FlyBase Gene Report: Dmel\PDZ-GEF

General Information

Symbol

Dmel\PDZ-GEF

Species

D. melanogaster

Name

PDZ domain-containing guanine nucleotide exchange factor

Annotation Symbol

CG9491

Feature Type

protein_coding_gene

FlyBase ID

FBgn0265778

Gene Model Status

Current

Stock Availability

8 publicly available

Gene Summary

PDZ domain-containing guanine nucleotide exchange factor (PDZ-GEF) encodes a guanine nucleotide exchange factor for the product of Rap1. The product of PDZ-GEF contributes to ventral furrow formation, border cell migration, macrophage migration, epithelial migration and morphogenesis, eye development, ovary development, spermathecae formation, germline stem cell maintenance in the testis, adherens junction formation, and anchorage of stem cells to niche. [Date last reviewed: 2019-03-14] (FlyBase Gene Snapshot)

All Summaries

Gene Snapshot
Alliance
Auto summary
Pathway
Gene Group
Interactive Fly

Also Known As

Gef26, dizzy, dPDZ-GEF, l(2)k13720, GEF

Key Links

Genomic Location

Cytogenetic map

Sequence location

2L:6,323,767..6,332,789 [+]

Recombination map

2-19

RefSeq locus

NT_033779 REGION:6323767..6332789

Sequence

Get Decorated FASTA

Genomic Maps

JBrowse GBrowse

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Other Genome Views

The following external sites may use different assemblies or annotations than FlyBase.

Function

GO Summary Ribbons

Gene Ontology (GO) Annotations (22 terms)

Molecular Function (2 terms)

Terms Based on Experimental Evidence (1 term)

CV Term

Evidence

References

enables small GTPase binding

inferred from physical interaction with FLYBASE:Rap1; FB:FBgn0004636

(Boettner and Van Aelst, 2007)

Terms Based on Predictions or Assertions (1 term)

CV Term

Evidence

References

enables guanyl-nucleotide exchange factor activity

inferred from biological aspect of ancestor with PANTHER:PTN007734601

(assigned by GO_Central )

(Gaudet et al., 2011)

inferred from sequence or structural similarity with HGNC:16854

(FlyBase Curators, 2008-)

Biological Process (16 terms)

Terms Based on Experimental Evidence (14 terms)

CV Term

Evidence

References

involved_in adherens junction assembly

inferred from genetic interaction with FLYBASE:Rap1; FB:FBgn0004636

(Wang et al., 2006)

involved_in compound eye development

inferred from mutant phenotype

(Huelsmann et al., 2006)

involved_in dorsal closure

inferred from mutant phenotype

(Boettner and Van Aelst, 2007)

inferred from genetic interaction with FLYBASE:Rap1; FB:FBgn0004636, FLYBASE:cno; FB:FBgn0259212, FLYBASE:zip; FB:FBgn0287873

(Boettner and Van Aelst, 2007)

involved_in germ-line stem cell population maintenance

inferred from mutant phenotype

(Wang et al., 2006)

involved_in hemocyte migration

inferred from mutant phenotype

(Siekhaus et al., 2010, Huelsmann et al., 2006)

involved_in imaginal disc-derived male genitalia development

inferred from mutant phenotype

(Huelsmann et al., 2006)

involved_in imaginal disc-derived wing morphogenesis

inferred from mutant phenotype

(Huelsmann et al., 2006)

involved_in MAPK cascade

inferred from genetic interaction with FLYBASE:Raf; FB:FBgn0003079

(Lee et al., 2002)

inferred from genetic interaction with FLYBASE:rl; FB:FBgn0003256

(Lee et al., 2002)

inferred from genetic interaction with FLYBASE:Dsor1; FB:FBgn0010269

(Lee et al., 2002)

involved_in oogenesis

inferred from mutant phenotype

(Wang et al., 2006, Lee et al., 2002)

involved_in positive regulation of sevenless signaling pathway

inferred from genetic interaction with FLYBASE:cnk; FB:FBgn0286070

(Baril et al., 2014)

involved_in R7 cell fate commitment

inferred from mutant phenotype

(Baril et al., 2014)

involved_in regulation of compound eye photoreceptor development

inferred from mutant phenotype

(Lee et al., 2002)

involved_in regulation of embryonic cell shape

inferred from mutant phenotype

(Huelsmann et al., 2006)

involved_in substrate-dependent cell migration, cell extension

inferred from mutant phenotype

(Huelsmann et al., 2006)

Terms Based on Predictions or Assertions (2 terms)

CV Term

Evidence

References

involved_in positive regulation of GTPase activity

inferred from biological aspect of ancestor with PANTHER:PTN007734601

(assigned by GO_Central )

(Gaudet et al., 2011)

inferred from sequence or structural similarity with HGNC:16854

(FlyBase Curators, 2008-)

involved_in Ras protein signal transduction

inferred from biological aspect of ancestor with PANTHER:PTN007734601

(assigned by GO_Central )

(Gaudet et al., 2011)

Cellular Component (4 terms)

Terms Based on Experimental Evidence (2 terms)

CV Term

Evidence

References

colocalizes_with adherens junction

inferred from direct assay

(Boettner and Van Aelst, 2007)

located_in apicolateral plasma membrane

inferred from direct assay

(Boettner and Van Aelst, 2007)

Terms Based on Predictions or Assertions (2 terms)

CV Term

Evidence

References

is_active_in apical plasma membrane

inferred from biological aspect of ancestor with PANTHER:PTN001896698

(assigned by GO_Central )

(Gaudet et al., 2011)

is_active_in plasma membrane

inferred from biological aspect of ancestor with PANTHER:PTN007734601

(assigned by GO_Central )

(Gaudet et al., 2011)

Gene Group (FlyBase)

RAS GUANINE NUCLEOTIDE EXCHANGE FACTORS

Pathway (FlyBase)

Positive Regulators of Sevenless Signaling Pathway

Protein Family (UniProt)

Protein Signatures (InterPro)

Summaries

Gene Snapshot

Gene Group (FlyBase)

RAS GUANINE NUCLEOTIDE EXCHANGE FACTORS -: RasGEFs are Guanine Nucleotide Exchange Factors (GEFs) for Ras family GTPases. The RasGEFs are characterized by a CDC25 homology domain. (Adapted from FBrf0220530).

Pathway (FlyBase)

Positive Regulators of Sevenless Signaling Pathway -: Positive regulators of Sevenless signaling up-regulate the pathway, promoting cell fate to that of an R7 photoreceptor. (Adapted from FBrf0127283 and FBrf0221727).

Gene Model and Products

Number of Transcripts

Number of Unique Polypeptides

Please see the JBrowse view of Dmel\PDZ-GEF for information on other features

To submit a correction to a gene model please use the Contact FlyBase form

Protein Domains (via Pfam)

Isoform displayed:

Pfam protein domains

InterPro name

classification

start

end

Protein Domains (via SMART)

Isoform displayed:

SMART protein domains

InterPro name

classification

start

end

Structure New Section

Protein 3D structure (Predicted by AlphaFold) (AlphaFold entry Q9VMF3)

If you don't see the viewer to the right, refresh your browser.

Model Confidence:

Very high (pLDDT > 90)
Confident (90 > pLDDT > 70)
Low (70 > pLDDT > 50)
Very low (pLDDT < 50)

AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Some regions with low pLDDT may be unstructured in isolation.

Comments on Gene Model

Low-frequency RNA-Seq exon junction(s) not annotated.

Annotated transcripts do not represent all supported alternative splices within 5' UTR.

Gene model reviewed during 5.46

Tissue-specific extension of 3' UTRs observed during later stages (FBrf0218523, FBrf0219848); all variants may not be annotated

Sequence Ontology: Class of Gene

gene

nuclear_gene

protein_coding_gene

Transcript Data

Annotated Transcripts

Name

FlyBase ID

RefSeq ID

Length (nt)

Assoc. CDS (aa)

PDZ-GEF-RA

FBtr0079249

NM_135168

6067

1573

PDZ-GEF-RB

FBtr0300038

NM_001144325

5912

1569

PDZ-GEF-RC

FBtr0300039

NM_001144326

5471

1422

PDZ-GEF-RD

FBtr0333242

NM_001273197

6823

1569

Additional Transcript Data and Comments

Reported size (kB)

Comments

External Data

Crossreferences

Polypeptide Data

Annotated Polypeptides

Name

FlyBase ID

Predicted MW (kDa)

Length (aa)

Theoretical pI

RefSeq ID

GenBank

PDZ-GEF-PA

FBpp0078879

171.7

1573

7.48

NP_609012

AAF52365

PDZ-GEF-PB

FBpp0289315

171.1

1569

7.37

NP_001137797

ACL83003

PDZ-GEF-PC

FBpp0289316

155.0

1422

7.25

NP_001137798

ACL83004

PDZ-GEF-PD

FBpp0305443

171.1

1569

7.37

NP_001260126

AGB92662

Polypeptides with Identical Sequences

The group(s) of polypeptides indicated below share identical sequence to each other.

1569 aa isoforms: PDZ-GEF-PB, PDZ-GEF-PD

Additional Polypeptide Data and Comments

Reported size (kDa)

Comments

External Data

Crossreferences

InterPro - A database of protein families, domains and functional sites

Linkouts

Sequences Consistent with the Gene Model

Nucleotide / Polypeptide Records

UniProt

Mapped Features

Click to get a list of regulatory features (enhancers, TFBS, etc.) and gene disruptions (point mutations, indels, etc.) within or overlapping Dmel\PDZ-GEF using the Feature Mapper tool.

External Data

Crossreferences

Eukaryotic Promoter Database - A collection of databases of experimentally validated promoters for selected model organisms.

PDZ-GEF_1

Linkouts

Expression Data

Expression Summary Ribbons

Colored tiles in ribbon indicate that expression data has been curated by FlyBase for that anatomical location. Colorless tiles indicate that there is no curated data for that location.

For complete stage-specific expression data, view the modENCODE Development RNA-Seq section under High-Throughput Expression below.

Transcript Expression

in situ

Stage

Tissue/Position (including subcellular localization)

Reference

adult stage | female

ovary

(Singh et al., 2006)

Additional Descriptive Data

Marker for

Subcellular Localization

CV Term

Polypeptide Expression

immunolocalization

Stage

Tissue/Position (including subcellular localization)

Reference

adult stage | female

spermathecal duct

(Singh et al., 2006)

mass spectroscopy

Stage

Tissue/Position (including subcellular localization)

Reference

adult stage

adult head

• membrane

(Aradska et al., 2015)

Additional Descriptive Data

PDZ-GEF protein is strongly expressed in spermathecal ducts and stalks.

(Singh et al., 2006)

Marker for

Subcellular Localization

CV Term

Evidence

References

colocalizes_with adherens junction

inferred from direct assay

(Boettner and Van Aelst, 2007)

located_in apicolateral plasma membrane

inferred from direct assay

(Boettner and Van Aelst, 2007)

Expression Deduced from Reporters

Reporter: P{PDZ-GEF-GAL4::VP16}

Stage

Tissue/Position (including subcellular localization)

Reference

embryonic stage 13 -- 15

ectoderm

(Boettner and Van Aelst, 2007)

High-Throughput Expression Data

Associated Tools

GBrowse - Visual display of RNA-Seq signals

View Dmel\PDZ-GEF in GBrowse 2

RNA-Seq by Region - Search RNA-Seq expression levels by exon or genomic region

View exonic expression by developmental stage for Dmel\PDZ-GEF

View exonic expression by tissue for Dmel\PDZ-GEF

Bulk Downloads

RNA-Seq RPKM values for all genes

Reference

See Gelbart and Emmert, 2013 for analysis details and data files for all genes.

Developmental Proteome: Life Cycle

Developmental Proteome: Embryogenesis

External Data and Images

Linkouts

DRscDB - A single-cell RNA-seq resource for data mining and data comparison across species

33881/tissue=All

EMBL-EBI Single Cell Expression Atlas - Single cell expression across species

FBgn0265778

FlyAtlas - Adult expression by tissue, using Affymetrix Dros2 array

FBgn0021873

FlyAtlas2 - A Drosophila melanogaster expression atlas with RNA-Seq, miRNA-Seq and sex-specific data

FBgn0265778

Fly-FISH - A database of Drosophila embryo and larvae mRNA localization patterns

CG9491

Images

FlyBase Wiki

Image Based Resources

Alleles, Insertions, Transgenic Constructs, and Aberrations

Classical and Insertion Alleles ( 25 )

For All Classical and Insertion Alleles Show

Other relevant insertions

Transgenic Constructs ( 14 )

For All Alleles Carried on Transgenic Constructs Show

Transgenic constructs containing/affecting coding region of PDZ-GEF

Transgenic constructs containing regulatory region of PDZ-GEF

Aberrations (Deficiencies and Duplications) ( 8 )

Inferred from experimentation ( 8 )

Gene not disrupted in

Df(2L)E110

(Spradling et al., 1999, BDGP Project Members, 1994-1999)

In(2LR)DTD116^LDTD24^R

(BDGP Project Members, 1994-1999)

Gene disrupted in

Df(2L)BSC5

(Deal and Cook, 2001.5.3)

Df(2L)BSC185

(Christensen and Cook, 2006.8.29)

Df(2L)BSC186

(Christensen and Cook, 2006.8.29)

Df(2L)BSC296

(Christensen et al., 2008.10.20)

Df(2L)Exel6016

(Ryder, 2004.4.26)

Df(2L)Exel9038

(Ryder, 2004.4.26)

Inferred from location ( 0 )

Alleles Representing Disease-Implicated Variants

Phenotypes

For more details about a specific phenotype click on the relevant allele symbol.

Lethality

Allele

lethal, with Scer\GAL4^da.G32

PDZ-GEF^dsRNA.UAS

lethal | recessive

PDZ-GEF^k13720

lethal | recessive | heat sensitive

PDZ-GEF^k13720

lethal - all die during embryonic stage (with Df(2L)BSC5)

PDZ-GEF³

partially lethal

partially lethal (with PDZ-GEF³)

partially lethal (with PDZ-GEF⁴)

partially lethal (with PDZ-GEF⁵)

PDZ-GEF⁴

partially lethal (with PDZ-GEF⁶)

PDZ-GEF⁴

partially lethal (with PDZ-GEF^EP388)

partially lethal (with PDZ-GEF^k13720)

partially lethal - majority die (with Df(2L)BSC5)

partially lethal - majority die | recessive

PDZ-GEF³

viable

viable, with Scer\GAL4^- :

PDZ-GEF^EP388

viable, with Dcr-2^UAS.cDa, Scer\GAL4^elav.PLu

PDZ-GEF^GD14231

viable, with Scer\GAL4^Mef2.PR

PDZ-GEF^GD14231

viable, with Scer\GAL4^pnr-MD237

PDZ-GEF^GD14231

viable, with Scer\GAL4^tin.CΔ4

PDZ-GEF^GD14231

Sterility

Allele

female sterile | recessive

PDZ-GEF^k13720

fertile

PDZ-GEF^rv-1

sterile (with PDZ-GEF³)

PDZ-GEF⁴

sterile (with PDZ-GEF⁴)

sterile (with PDZ-GEF⁵)

PDZ-GEF⁴

sterile (with PDZ-GEF⁶)

PDZ-GEF⁴

sterile | recessive

PDZ-GEF³

Other Phenotypes

Allele

abnormal cell adhesion | oogenesis, with Scer\GAL4^slbo.2.6

PDZ-GEF^HM05139

abnormal cell migration | embryonic stage

PDZ-GEF^k13720

abnormal cell migration | embryonic stage (with Df(2L)BSC5)

abnormal cell migration | oogenesis | oogenesis, with Scer\GAL4^slbo.2.6

PDZ-GEF^HM05139

abnormal cell shape, with Scer\GAL4^srp

PDZ-GEF^EP388

abnormal cell shape | embryonic stage

PDZ-GEF^k13720

abnormal cell shape | somatic clone - Minute background | third instar larval stage

PDZ-GEF^k13720

abnormal cell shape | third instar larval stage, with Scer\GAL4^en.PU

PDZ-GEF^UAS.EGFP

abnormal planar polarity

PDZ-GEF³

abnormal planar polarity | somatic clone

PDZ-GEF³

abnormal size | adult stage

PDZ-GEF³

decreased cell number | spermatogenesis (with PDZ-GEF³)

PDZ-GEF⁴

decreased cell number | spermatogenesis (with PDZ-GEF⁴)

decreased cell number | spermatogenesis (with PDZ-GEF⁵)

PDZ-GEF⁴

decreased cell number | spermatogenesis (with PDZ-GEF⁶)

PDZ-GEF⁴

majority die during embryonic stage

PDZ-GEF^k13720

majority die during embryonic stage (with Df(2L)BSC5)

PDZ-GEF^k13720

short lived | heat sensitive, with Scer\GAL4^tin.CΔ4

PDZ-GEF^GD14231

some die during embryonic stage (with PDZ-GEF^C1)

PDZ-GEF^k13720

some die during embryonic stage (with PDZ-GEF^C2)

PDZ-GEF^k13720

some die during embryonic stage (with PDZ-GEF^k13720)

visible

visible, with Scer\GAL4^GMR.PF

PDZ-GEF^EP388

visible, with Scer\GAL4^hs.2sev

PDZ-GEF^EP388

visible, with Scer\GAL4^pnr-MD237

PDZ-GEF^GD14231

visible (with PDZ-GEF³)

visible (with PDZ-GEF⁴)

visible (with PDZ-GEF⁵)

PDZ-GEF⁴

visible (with PDZ-GEF⁶)

PDZ-GEF⁴

visible (with PDZ-GEF^EP388)

visible (with PDZ-GEF^EP388), with Scer\GAL4^- :

PDZ-GEF^k13720

visible (with PDZ-GEF^k13720)

visible (with PDZ-GEF^k13720), with Scer\GAL4^- :

PDZ-GEF^EP388

visible | adult stage, with Scer\GAL4^en.PU

visible | adult stage | somatic clone - Minute background

PDZ-GEF^k13720

visible | recessive

PDZ-GEF^k13720

visible | somatic clone

PDZ-GEF^k13720

Phenotype manifest in

Allele

abdominal segment motor neuron | third instar larval stage, with Scer\GAL4^Toll-6-D42

PDZ-GEF^KK102612

anterior crossvein | absent, with Scer\GAL4^en.PU

PDZ-GEF^{dsRNA.UAS.WIZ}

axon | third instar larval stage, with Scer\GAL4^Toll-6-D42

PDZ-GEF^KK102612

border follicle cell, with Scer\GAL4^slbo.2.6

PDZ-GEF^HM05139

cell-cell adherens junction & hub cell (with PDZ-GEF³)

PDZ-GEF⁴

cell-cell adherens junction & hub cell (with PDZ-GEF⁴)

PDZ-GEF³

cyst progenitor cell (with PDZ-GEF³)

PDZ-GEF⁴

cyst progenitor cell (with PDZ-GEF⁴)

PDZ-GEF³

ectoderm | embryonic stage

PDZ-GEF^k13720

ectoderm | embryonic stage (with Df(2L)BSC5)

embryo

PDZ-GEF^k13720

embryo (with Df(2L)BSC5)

embryo (with PDZ-GEF^C1)

PDZ-GEF^k13720

embryo (with PDZ-GEF^C2)

PDZ-GEF^k13720

embryo (with PDZ-GEF^k13720)

embryonic/first instar larval cuticle | embryonic stage

PDZ-GEF^k13720

embryonic/first instar larval cuticle | embryonic stage (with Df(2L)BSC5)

embryonic/larval neuromuscular junction | third instar larval stage, with Scer\GAL4^Toll-6-D42

PDZ-GEF^KK102612

embryonic/larval plasmatocyte

embryonic/larval plasmatocyte, with Scer\GAL4^srp

epithelial cell | embryonic stage

PDZ-GEF^k13720

eye

eye, with Scer\GAL4^GMR.PF

PDZ-GEF^EP388

eye, with Scer\GAL4^hs.2sev

PDZ-GEF^EP388

eye (with Df(2L)BSC5)

eye (with PDZ-GEF³)

eye (with PDZ-GEF⁴)

eye (with PDZ-GEF⁵)

PDZ-GEF⁴

eye (with PDZ-GEF⁶)

PDZ-GEF⁴

eye (with PDZ-GEF^EP388)

eye (with PDZ-GEF^EP388), with Scer\GAL4^- :

PDZ-GEF^k13720

eye (with PDZ-GEF^k13720)

eye (with PDZ-GEF^k13720), with Scer\GAL4^- :

PDZ-GEF^EP388

eye | somatic clone

PDZ-GEF^k13720

eye photoreceptor cell

eye photoreceptor cell (with PDZ-GEF^EP388), with Scer\GAL4^- :

PDZ-GEF^k13720

eye photoreceptor cell (with PDZ-GEF^k13720), with Scer\GAL4^- :

PDZ-GEF^EP388

eye photoreceptor cell | ectopic, with Scer\GAL4^GMR.PF

PDZ-GEF^EP388

eye photoreceptor cell | somatic clone

germinal proliferation center (with PDZ-GEF³)

PDZ-GEF⁴

germinal proliferation center (with PDZ-GEF⁴)

PDZ-GEF³

hemocyte | embryonic stage

PDZ-GEF^Δ1

hemocyte | embryonic stage (with Df(2L)BSC185)

PDZ-GEF^Δ1

hub cell (with PDZ-GEF³)

PDZ-GEF⁴

hub cell (with PDZ-GEF⁴)

PDZ-GEF³

larval ventral nerve cord

larval ventral nerve cord, with Scer\GAL4^srp

PDZ-GEF^EP388

male genitalia

male genitalia (with Df(2L)BSC5)

male germline stem cell (with PDZ-GEF³)

PDZ-GEF⁴

male germline stem cell (with PDZ-GEF⁴)

male germline stem cell (with PDZ-GEF⁵)

PDZ-GEF⁴

male germline stem cell (with PDZ-GEF⁶)

PDZ-GEF⁴

male germline stem cell | third instar larval stage (with PDZ-GEF³)

PDZ-GEF⁴

male germline stem cell | third instar larval stage (with PDZ-GEF⁴)

PDZ-GEF³

microtubule | third instar larval stage, with Scer\GAL4^Toll-6-D42

PDZ-GEF^KK102612

ommatidium

ommatidium, with Scer\GAL4^GMR.PF

PDZ-GEF^EP388

ommatidium | somatic clone

outer photoreceptor cell

PDZ-GEF^E-174

outer photoreceptor cell (with Df(2L)BSC5)

ovariole

PDZ-GEF^k13720

ovary

PDZ-GEF^unspecified

photoreceptor cell R7

PDZ-GEF^E-174

photoreceptor cell R7 (with Df(2L)BSC5)

photoreceptor cell R7 | somatic clone, with Scer\GAL4^Act5C.PP

PDZ-GEF^KK102612

posterior crossvein, with Scer\GAL4^en.PU

PDZ-GEF^UAS.EGFP

posterior crossvein | absent, with Scer\GAL4^en.PU

PDZ-GEF^{dsRNA.UAS.WIZ}

presumptive embryonic/larval nervous system, with Scer\GAL4^srp

PDZ-GEF^dsRNA.UAS

spermatheca | increased number

PDZ-GEF³

spermatheca | increased number (with PDZ-GEF³)

PDZ-GEF⁴

spermatheca | increased number (with PDZ-GEF⁴)

spermatheca | increased number (with PDZ-GEF⁵)

PDZ-GEF⁴

spermatheca | increased number (with PDZ-GEF⁶)

PDZ-GEF⁴

trichogen cell, with Scer\GAL4^pnr-MD237

PDZ-GEF^GD14231

wing

wing, with Scer\GAL4^en.PU

wing (with PDZ-GEF³)

wing (with PDZ-GEF⁴)

wing (with PDZ-GEF⁵)

PDZ-GEF⁴

wing (with PDZ-GEF⁶)

PDZ-GEF⁴

wing (with PDZ-GEF^EP388)

wing (with PDZ-GEF^k13720)

wing | somatic clone - Minute background

PDZ-GEF^k13720

wing blade

wing blade (with Df(2L)BSC5)

wing disc | somatic clone - Minute background | third instar larval stage

PDZ-GEF^k13720

wing disc | third instar larval stage, with Scer\GAL4^en.PU

PDZ-GEF^UAS.EGFP

wing hair, with Scer\GAL4^en.PU

PDZ-GEF^UAS.EGFP

wing hair | somatic clone - Minute background

PDZ-GEF^k13720

wing margin

PDZ-GEF^k13720

wing margin, with Scer\GAL4^en.PU

PDZ-GEF^{dsRNA.UAS.WIZ}

wing margin bristle, with Scer\GAL4^en.PU

PDZ-GEF^{dsRNA.UAS.WIZ}

wing margin bristle | somatic clone - Minute background

PDZ-GEF^k13720

wing vein | ectopic

PDZ-GEF³

wing vein L2, with Scer\GAL4^en.PU

PDZ-GEF^UAS.EGFP

wing vein L3, with Scer\GAL4^en.PU

PDZ-GEF^UAS.EGFP

Orthologs

Downloads

Download All DIOPT Orthologs

Human Orthologs (via DIOPT v8.0)

Homo sapiens (Human) (21)

Species\Gene Symbol

Score

Best Score

Best Reverse Score

Source

Alignment

Complementation?

Transgene?

Hsap\RAPGEF2

12 of 15

Yes

Hsap\RAPGEF6

12 of 15

Yes

2 of 15

2 of 15

2 of 15

2 of 15

2 of 15

Yes

2 of 15

2 of 15

2 of 15

2 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

Model Organism Orthologs (via DIOPT v8.0)

Mus musculus (laboratory mouse) (36)

Species\Gene Symbol

Score

Best Score

Best Reverse Score

Source

Alignment

Complementation?

Transgene?

Mmus\Rapgef6

12 of 15

Yes

Mmus\Rapgef2

8 of 15

Yes

Mmus\1700001J03Rik

2 of 15

Yes

Mmus\1700123K08Rik

2 of 15

Yes

Mmus\4930449I24Rik

2 of 15

Yes

Mmus\4930474N05Rik

2 of 15

Yes

Mmus\4930596D02Rik

2 of 15

Yes

Mmus\4933421I07Rik

2 of 15

Yes

Mmus\Gm3402

2 of 15

Yes

Mmus\Gm3404

2 of 15

Yes

Mmus\Gm3415

2 of 15

Yes

Mmus\Gm6309

2 of 15

Yes

Mmus\Gm6370

2 of 15

Yes

Mmus\Gm6408

2 of 15

Yes

2 of 15

2 of 15

2 of 15

2 of 15

2 of 15

Yes

2 of 15

2 of 15

2 of 15

1 of 15

1 of 15

Yes

Mmus\Gm4871

1 of 15

Mmus\Gm5565

1 of 15

Yes

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

Rattus norvegicus (Norway rat) (22)

Rnor\Rapgef2

9 of 13

Yes

Rnor\Rapgef6

8 of 13

Yes

Rnor\LOC102552619

2 of 13

Yes

Rnor\Ralgds

2 of 13

Rnor\Rapgef5

2 of 13

Rnor\RGD1561017

2 of 13

Yes

Rnor\RGD1561114

2 of 13

Yes

Rnor\RGD1564129

2 of 13

Yes

2 of 13

2 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

Yes

Rnor\RGD1559804

1 of 13

Yes

Rnor\RGD1562508

1 of 13

Yes

Rnor\Rgl1

1 of 13

Rnor\Sos1

1 of 13

Xenopus tropicalis (Western clawed frog) (13)

Xtro\ralgds

2 of 12

Yes

Xtro\rapgef2

2 of 12

Yes

Xtro\rapgef3

2 of 12

Yes

Xtro\rapgef5

2 of 12

Yes

Xtro\rapgef6

2 of 12

Yes

Xtro\rapgefl1

2 of 12

Yes

Xtro\rgl3

2 of 12

Yes

Xtro\zbtb22

2 of 12

Yes

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

Danio rerio (Zebrafish) (22)

Drer\si:dkey-253i9.4

11 of 15

Yes

Drer\rapgef2

10 of 15

Yes

Drer\rapgef6

6 of 15

Yes

2 of 15

2 of 15

2 of 15

2 of 15

Yes

Drer\rgl2

2 of 15

Drer\rgl3a

2 of 15

Drer\si:ch211-251j10.3

2 of 15

2 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

Drer\si:ch211-234p18.3

1 of 15

Drer\zgc:171558

1 of 15

Caenorhabditis elegans (Nematode, roundworm) (5)

Cele\pxf-1

11 of 15

Yes

1 of 15

1 of 15

1 of 15

1 of 15

Arabidopsis thaliana (thale-cress) (0)

No records found.

Saccharomyces cerevisiae (Brewer's yeast) (2)

Scer\CDC25

1 of 15

Yes

Scer\LTE1

1 of 15

Yes

Schizosaccharomyces pombe (Fission yeast) (2)

Spom\efc25

1 of 12

Yes

Spom\ste6

1 of 12

Yes

Other Organism Orthologs (via OrthoDB)

Paralogs

Downloads

Download All DIOPT Paralogs

Paralogs (via DIOPT v8.0)

Drosophila melanogaster (Fruit fly) (8)

Gene Symbol

Score

Source

Alignment

C3G

3 of 10

Epac

3 of 10

Rgl

3 of 10

Sos

3 of 10

2 of 10

2 of 10

2 of 10

1 of 10

Human Disease Associations

FlyBase Human Disease Model Reports

amyotrophic lateral sclerosis (postulated), RAPGEF2-related

Disease Model Summary Ribbon

Disease Ontology (DO) Annotations

Models Based on Experimental Evidence ( 0 )

Allele

Disease

Evidence

References

Potential Models Based on Orthology ( 1 )

Human Ortholog

Disease

Evidence

References

RAPGEF2; Rap guanine nucleotide exchange factor 2

model of familial adult myoclonic epilepsy 7

IEA

(FlyBase, 2019-)

Modifiers Based on Experimental Evidence ( 0 )

Allele

Disease

Interaction

References

Disease Associations of Human Orthologs (via DIOPT v8.0 and OMIM)

Note that ortholog calls supported by only 1 or 2 algorithms (DIOPT score < 3) are not shown.

Homo sapiens (Human)

Gene name

Score

OMIM

OMIM Phenotype

DO term

Complementation?

Transgene?

RAPGEF2; Rap guanine nucleotide exchange factor 2

12 of 15

609530

EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7; FAME7

familial adult myoclonic epilepsy 7

RAPGEF6; Rap guanine nucleotide exchange factor 6

12 of 15

610499

Functional Complementation Data

Functional complementation data is computed by FlyBase using a combination of the orthology data obtained from DIOPT and OrthoDB and the allele-level genetic interaction data curated from the literature.

Interactions

Summary of Physical Interactions

esyN Network Diagram

Interactions Browser

View in Interactions Browser

Please see the Physical Interaction reports below for full details

protein-protein

Physical Interaction

Assay

References

PDZ-GEF - Rap1

two hybrid

(Boettner and Van Aelst, 2007)

Summary of Genetic Interactions

esyN Network Diagram

esyN Network Key:

Suppression

Enhancement

View in Interactions Browser

Please look at the allele data for full details of the genetic interactions

Starting gene(s)

Interaction type

Interacting gene(s)

Reference

PDZ-GEF

suppressible

cno

(Boettner and Van Aelst, 2007)

PDZ-GEF

enhanceable

cno

(Boettner and Van Aelst, 2007)

suppressible

(Lee et al., 2002)

suppressible

(Wang et al., 2006)

PDZ-GEF

suppressible

mys

(Huelsmann et al., 2006)

suppressible

(Lee et al., 2002)

suppressible

(Boettner and Van Aelst, 2007, Huelsmann et al., 2006, Wang et al., 2006, Lee et al., 2002)

PDZ-GEF

enhanceable

Rap1

(Boettner and Van Aelst, 2007, Singh et al., 2006)

PDZ-GEF

enhanceable

Rap2l

(Singh et al., 2006)

PDZ-GEF

suppressible

Ras85D

(Lee et al., 2002)

PDZ-GEF

suppressible

(Lee et al., 2002)

PDZ-GEF

suppressible

shg

(Singh et al., 2006, Wang et al., 2006)

PDZ-GEF

enhanceable

zip

(Boettner and Van Aelst, 2007)

Starting gene(s)

Interaction type

Interacting gene(s)

Reference

cnk

enhanceable

PDZ-GEF

(Baril et al., 2014)

cno

enhanceable

PDZ-GEF

(Boettner and Van Aelst, 2007)

Raf

enhanceable

PDZ-GEF

(Baril et al., 2014)

zip

enhanceable

PDZ-GEF

(Boettner and Van Aelst, 2007)

External Data

Linkouts

DroID - A comprehensive database of gene and protein interactions.

FBgn0265778

MIST (genetic) - An integrated Molecular Interaction Database

PDZ-GEF

MIST (protein-protein) - An integrated Molecular Interaction Database

PDZ-GEF

Pathways

Signaling Pathways (FlyBase)

Positive Regulators of Sevenless Signaling Pathway -: Positive regulators of Sevenless signaling up-regulate the pathway, promoting cell fate to that of an R7 photoreceptor. (Adapted from FBrf0127283 and FBrf0221727).

Metabolic Pathways

FlyMet - A comprehensive tissue-specific metabolomics resource for Drosophila.

FBgn0265778

External Data

Linkouts

Reactome - An open-source, open access, manually curated and peer-reviewed pathway database.

RAF/MAP kinase cascade

Genomic Location and Detailed Mapping Data

Chromosome (arm)

Recombination map

2-19

Cytogenetic map

26C2-26C3

Sequence location

2L:6,323,767..6,332,789 [+]

FlyBase Computed Cytological Location

Cytogenetic map

Evidence for location

26C2-26C3

Experimentally Determined Cytological Location

Cytogenetic map

Notes

References

26C2-26C3

(determined by in situ hybridisation)

(Spradling et al., 1999)

26C2-26C3

(BDGP Project Members, 1994-1999)

Experimentally Determined Recombination Data

Location

2-19

(FlyBase, 2016)

2-20.4

(Comeron et al., 2012)

Left of (cM)

Right of (cM)

Notes

Stocks and Reagents

Stocks (8)

Aberrations including deletions of this gene Aberrations including duplications of this gene

Bloomington

28928

y¹ v¹; P{TRiP.HM05139}attP2

11102

y¹ w^67c23; P{lacW}PDZ-GEF^k13720/CyO

31248

y¹ v¹; P{TRiP.JF01765}attP2/TM3, Sb¹

82547

y¹ sc^* v¹ sev²¹; P{WKO.P1-A4}attP40

82980

y¹ sc^* v¹ sev²¹; P{TRiP.HMS06089}attP40

Kyoto

114352

y^d2 w¹¹¹⁸ P{ey-FLP.N}2; P{lacW}PDZ-GEF^k13720 P{neoFRT}40A/CyO y⁺

VDRC

v105159

P{KK102612}VIE-260B

v27017

w¹¹¹⁸; P{GD14231}v27017

Genomic Clones (29)

Please Note FlyBase no longer curates genomic clone accessions so this list may not be complete

cDNA Clones (44)

Please Note This section lists cDNAs and ESTs that fall within the genomic extent of the gene model, which may include cDNAs and ESTs of genes within introns, or of overlapping genes. Please see GBrowse for alignment of the cDNAs and ESTs to the gene model.

cDNA clones, fully sequenced

BDGP DGC clones

Other clones

Drosophila Genomics Resource Center cDNA clones

For each fully sequenced cDNA the DGRC maintains various forms of the cDNA (e.g tagged or untagged) in several different host vectors for subsequent cloning and expression in Drosophila and Drosophila cell lines.

FBgn0265778

cDNA Clones, End Sequenced (ESTs)

BDGP DGC clones

Other clones

RNAi and Array Information

Linkouts

GenomeRNAi - A database for cell-based and in vivo RNAi phenotypes and reagents

33881

Antibody Information

Laboratory Generated Antibodies

polyclonal

(Singh et al., 2006)

Commercially Available Antibodies

Other Information

Relationship to Other Genes

Source for database identify of

Source for identity of: PDZ-GEF Gef26

(FlyBase, 2009-)

Source for identity of: Gef26 CG9491

(FlyBase, 1996-)

Source for database merge of

Source for merge of: Gef26 PDZ-GEF

(FlyBase, 1992-)

Source for merge of: Gef26 dizzy

(Edwards, 2003.2.11)

Source for merge of: Gef26 l(2)k13720

(Edwards, 2000.3.3)

Source for merge of: PDZ-GEF GEF

(FlyBase, 1992-)

Additional comments

FlyBase curator comment: Renamed from 'Gef26' to 'PDZ-GEF' because: i) 'Gef26' isn't very informative; ii) There are no recorded publications that use 'Gef26'; iii) the first paper to characterize the gene (FBrf0152217) called the gene 'PDZ-GEF'; iv) 'PDZ-GEF' is descriptive and popular in the literature.

(FlyBase, 2009-)

Source for identity of Gef26 CG9491 was sequence comparison ( date:011113 ).

(FlyBase, 1996-)

Other Comments

Gef26 is required for macrophage shape and migration during embryogenesis and depends on the function of the R and mys proteins.

(Huelsmann et al., 2006)

Gef26 is necessary for the maintenance (formation?) of adherens junctions which anchor male germline stem cells to the hub in the testis.

(Wang et al., 2006)

Plays a role in the development of the spermathecae.

(Singh et al., 2005)

Mutant females show supernumerary spermathecae.

(Singh et al., 2005)

PDZ-GEF is the first component of a conserved "inside-out" signalling pathway which changes the adhesive properties of macrophages via integrins.

(Huelsmann et al., 2004)

dsRNA made from templates generated with primers directed against this gene tested in RNAi screen for effects on Kc167 and S2R⁺ cell morphology.

(Kiger et al., 2003)

Retinal axons make abnormal projections to their targets in the lamina in Gef26 mutants, while the photoreceptors appear normal.

(Bottalico et al., 2002)

Origin and Etymology

Discoverer

Etymology

Identification

External Crossreferences and Linkouts ( 54 )

Sequence Crossreferences

NCBI Gene - Gene integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.

33881

GenBank Nucleotide - A collection of sequences from several sources, including GenBank, RefSeq, TPA, and PDB.

GenBank Protein - A collection of sequences from several sources, including translations from annotated coding regions in GenBank, RefSeq and TPA, as well as records from SwissProt, PIR, PRF, and PDB.

RefSeq - A comprehensive, integrated, non-redundant, well-annotated set of reference sequences including genomic, transcript, and protein.

UniProt/GCRP - The gene-centric reference proteome (GCRP) provides a 1:1 mapping between genes and UniProt accessions in which a single 'canonical' isoform represents the product(s) of each protein-coding gene.

Q9VMF3

UniProt/TrEMBL - Automatically annotated and unreviewed records of protein sequence and functional information

Other crossreferences

AlphaFold DB - AlphaFold provides open access to protein structure predictions for the human proteome and other key proteins of interest, to accelerate scientific research.

Q9VMF3

Drosophila Genomics Resource Center - Drosophila Genomics Resource Center (DGRC) cDNA clones

FBgn0265778

DRscDB - A single-cell RNA-seq resource for data mining and data comparison across species

33881/tissue=All

EMBL-EBI Single Cell Expression Atlas - Single cell expression across species

FBgn0265778

Eukaryotic Promoter Database - A collection of databases of experimentally validated promoters for selected model organisms.

PDZ-GEF_1

FlyAtlas - Adult expression by tissue, using Affymetrix Dros2 array

FBgn0021873

FlyAtlas2 - A Drosophila melanogaster expression atlas with RNA-Seq, miRNA-Seq and sex-specific data

FBgn0265778

Fly-FISH - A database of Drosophila embryo and larvae mRNA localization patterns

CG9491

FlyMet - A comprehensive tissue-specific metabolomics resource for Drosophila.

FBgn0265778

GenomeRNAi - A database for cell-based and in vivo RNAi phenotypes and reagents

33881

iBeetle-Base - RNAi phenotypes in the red flour beetle (Tribolium castaneum)

TC003942

InterPro - A database of protein families, domains and functional sites

KEGG Genes - Molecular building blocks of life in the genomic space.

Dmel_CG9491

MARRVEL_MODEL - MARRVEL (model organism gene)

33881

Linkouts

DroID - A comprehensive database of gene and protein interactions.

FBgn0265778

MIST (genetic) - An integrated Molecular Interaction Database

PDZ-GEF

MIST (protein-protein) - An integrated Molecular Interaction Database

PDZ-GEF

Reactome - An open-source, open access, manually curated and peer-reviewed pathway database.

RAF/MAP kinase cascade

Synonyms and Secondary IDs (17)

Reported As

Symbol Synonym

CG9491

(Keleman et al., 2009.8.5, Perkins et al., 2009, van Dam et al., 2009, Ni et al., 2008, Lee et al., 2002, Stein et al., 2002, Anholt and Mackay, 2001)

D-PDZGEF

(Dupuy et al., 2005)

DGEF

(Hou et al., 2005, Singh et al., 2005)

Dzy

(Sun et al., 2020, Spahn et al., 2012)

EC2-8

(Baril et al., 2014)

GEF

(Edwards et al., 2003)

Gef26

(Heo et al., 2018, Dorn and Dorn, 2015, Baril et al., 2014, Wang et al., 2013, Aranjuez et al., 2012, Japanese National Institute of Genetics, 2012.5.21, Diez et al., 2011, Friedman et al., 2011, Michel et al., 2011, van Dam et al., 2009, Christensen et al., 2008.10.20, Bakal et al., 2007, Bakal et al., 2007, Boettner and Van Aelst, 2007, Christensen and Cook, 2006.8.29, Christensen and Cook, 2006.8.29, Singh et al., 2006, Wang et al., 2006)

PDF-GEF Dizzy

(Marchese et al., 2007)

PDZ-GEF

(Meltzer et al., 2019, Ray et al., 2019, Raza et al., 2019, Sawant et al., 2018, Baril et al., 2014, Zhang and Therrien, 2008)

dPDZ-GEF

(Boettner and Van Aelst, 2007, Huelsmann et al., 2006, Lee et al., 2002)

dizzy

(Schmidt et al., 2018, Wang et al., 2013, Michel et al., 2011, Siekhaus et al., 2010, Huelsmann et al., 2006, Marchese et al., 2005, Bottalico, 2001.10.15)

dzy

(Bonello et al., 2018, Ott et al., 2008)

gef26

(Ou et al., 2019, Heo et al., 2017)

l(2)k13720

(Spradling et al., 1999, BDGP Project Members, 1994-1999)

Name Synonyms

Dizzy

(Gilmour et al., 2017, Parsons and Foley, 2016, Vlisidou and Wood, 2015, Wang et al., 2014, Spahn et al., 2012, Ott et al., 2008)

GEF

Gef26

PDZ domain-containing guanine nucleotide exchange factor