Human Disease Model Report: cancer, multiple, RAF-RHOGEF-related

General Information

Name

cancer, multiple, RAF-RHOGEF-related

FlyBase ID

FBhh0001072

Disease Ontology Term

cancer

Parent Disease

OMIM

Overview

Using an eye phenotype assay that had been successful previously (see FBhh0001071), a gain-of-function mutation of Dmel\Raf has been characterized in combination with overexpression of Dmel\RhoGEF2. Co-expression in somatic clones within the eye-antennal disc results in clonal tissue overgrowth through an extended larval stage; large undifferentiated clonal masses are observed in the basal sections of the posterior region of the eye disc.

Rho family guanine nucleotide exchange factors (RhoGEFs) comprise a large and diverse family that mediate activation of Rho GTPases in many different developmental contexts. Dmel\RhoGEF2 is orthologous to three human genes, ARHGEF11, ARHGEF12, ARHGEF1. Classical amorphic and hypomorphic alleles, RNAi-targeting constructs, and alleles caused by insertional mutagenesis have been generated for Dmel\RhoGEF2. Animals homozygous for loss-of-functions mutations of RhoGEF2 die during the embryonic stage. These disease model experiments make use of a transgenic overexpression genotype in somatic clones.

None of three human genes orthologous to Dmel\RhoGEF2, ARHGEF11, ARHGEF12, or ARHGEF1, has been introduced into flies. Multiple constructs of the human Hsap\RAF1 have been introduced into flies, but have not been used in the context of this human disease model; see the human disease model report 'cancer, multiple, RAF1-related' (FBhh0000558).

Animals homozygous for amorphic mutations of Dmel\Raf exhibit lethality in the late larval stage; imaginal discs are undeveloped. Embryos lacking all Dmel\Raf activity (derived from homozygous null germline clones in the mother and not rescued by paternal contribution) die in early embryogenesis. Many genetic and physical interactions of Dmel\Raf have been described; see below and in the Raf gene report.

[updated Jul. 2019 by FlyBase; FBrf0222196]

Disease Summary Information

Disease Summary: cancer, multiple, RAF-RHOGEF-related

OMIM report

Human gene(s) implicated

Symptoms and phenotype

The aberrant activity of Ras homologous (Rho) family small GTPases (20 human members) has been implicated in cancer and other human diseases. However, rather than direct mutational activation, Rho GTPases are activated most commonly by indirect mechanisms in disease. One prevalent mechanism involves aberrant Rho activation via the deregulated expression and/or activity of Rho family guanine nucleotide exchange factors (RhoGEFs). Many RhoGEFs can activate a single Rho GTPase, reflecting the very specific role of each RhoGEF in controlling distinct signaling mechanisms involved in Rho activation. (Cook et al., 2014; pubmed: 24037532)

(FlyBase Curators, 2013-)

Genetics

Cellular phenotype and pathology

Molecular information

RhoGEFs promote formation of the active GTP-bound state of Rho GTPases [Ras homologous (Rho) family small GTPases] (Cook et al., 2014; pubmed:24037532).

(FlyBase Curators, 2013-)

The activation of Rho GTPases is mediated by a large and diverse family of proteins, the guanine nucleotide exchange factors (RhoGEFs). GEFs work immediately upstream of Rho proteins to provide a direct link between Rho activation and cell-surface receptors for various cytokines, growth factors, adhesion molecules, and G-protein-coupled receptors (Goicoechea et al., 2014; pubmed:25482524).

(FlyBase Curators, 2013-)

External links

Gene2Function (human gene): RAF1
Gene Cards: RAF1
MedlinePlus (gene): RAF1
KEGG Disease Pathways: Pathways in Cancer
MARRVEL (human gene): RAF1
NCBI (Entrez) gene: RAF1; Raf-1 proto-oncogene, serine/threonine kinase

Disease synonyms

Related Diseases

Related human health report(s)

cancer, multiple, RAF1-related

cancer, multiple, RAS-RHOGEF-related

Ortholog Information

Human gene(s) in FlyBase

Hsap\RAF1

Human gene (HGNC)

Symbol / Name

RAF1; Raf-1 proto-oncogene, serine/threonine kinase

D. melanogaster ortholog (based on DIOPT)

Dmel\Raf

(DIOPT, 2013-)

Comments on ortholog(s)

Many to one: 3 human to 1 Drosophila. The three human genes are RAF1, BRAF, and ARAF.

Other mammalian ortholog(s) used

D. melanogaster Gene Information (2)

Dmel\RhoGEF2

Gene Snapshot

Rho guanine nucleotide exchange factor 2 (RhoGEF2) encodes a protein involved in actin organization and contractility. It contributes to multiple actin-based processes including wound healing, cell shape and cell contraction. [Date last reviewed: 2019-08-01]

Molecular function (GO)

Cellular component (GO)

Gene Groups / Pathways

RHOGEF

Comments on ortholog(s)

Moderate-scoring ortholog of human ARHGEF11, ARHGEF12, and ARHGEF1 (1 Drosophila to 3 human). Dmel\RhoGEF2 shares 21-22% identity and 33-34% similarity with ARHGEF11 and ARHGEF12; ARHGEF1 is a smaller protein with 24% identity and 38% similarity.

Orthologs and Alignments from DRSC

DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans

H. sapiens (Human)

Dmel\Raf

Gene Snapshot

Raf oncogene (Raf) encodes a serine-threonine protein kinase that acts downstream of the product of Ras85D. It activates the MEK/ERK pathway to regulate cell proliferation, differentiation and survival downstream of receptor tyrosine kinases such as those encoded by tor, Egfr, and sev. [Date last reviewed: 2019-03-14]

Molecular function (GO)

Cellular component (GO)

Gene Groups / Pathways

Comments on ortholog(s)

High-scoring ortholog of human RAF1, BRAF, and ARAF (1 Drosophila to 3 human); Dmel\Raf shares 43-47% identity and 56-60% similarity with the human genes.

Orthologs and Alignments from DRSC

DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans

H. sapiens (Human)

Other Genes Used: Viral, Bacterial, Synthetic (0)

Summary of Physical Interactions (102 groups)

RhoGEF2

protein-protein

Interacting group

Assay

References

RhoGEF2 - Cdc42

pull down, autoradiography

(Nakamura et al., 2017)

RhoGEF2 - drk

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

RhoGEF2 - dsh

anti tag coimmunoprecipitation, anti tag western blot

(Warrington et al., 2013)

RhoGEF2 - Eb1

pull down, Identification by mass spectrometry, anti tag coimmunoprecipitation, anti tag western blot

(Lin et al., 2022, Rogers et al., 2004)

RhoGEF2 - foxo

anti tag coimmunoprecipitation, Identification by mass spectrometry

(Vinayagam et al., 2016)

RhoGEF2 - gig

anti tag coimmunoprecipitation, Identification by mass spectrometry

(Vinayagam et al., 2016)

RhoGEF2 - Lmpt

anti tag coimmunoprecipitation, peptide massfingerprinting, experimental knowledge based

(Rhee et al., 2014)

RhoGEF2 - Rho1

pull down, autoradiography, western blot

(Lin et al., 2022, Nakamura et al., 2017)

RhoGEF2 - slam

anti bait coimmunoprecipitation, western blot

(Wenzl et al., 2010)

RhoGEF2 - T48

pull down, autoradiography

(Mathew et al., 2011, Kolsch et al., 2007)

RhoGEF2 - Traf4

pull down, autoradiography

(Mathew et al., 2011)

RhoGEF2 - Tsc1

anti tag coimmunoprecipitation, Identification by mass spectrometry

(Vinayagam et al., 2016)

Raf

protein-protein

Interacting group

Assay

References

Raf - 14-3-3ε

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - 14-3-3ζ

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - Act42A

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - Aldh

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - Apl

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - Arc1

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - AspRS-m

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - ave

anti tag coimmunoprecipitation, western blot, pull down, anti tag western blot

(Maisonneuve et al., 2024)

Raf - BCAS2

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - βCOP

anti tag coimmunoprecipitation, anti tag western blot, peptide massfingerprinting

(Friedman et al., 2011, Friedman et al., 2011)

Raf - βTub60D

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - βTub97EF

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - blanks

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - CCT1

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - Cdc37

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - CG3651

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - CG6961

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - CG9775

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - CG11417

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - CG11999

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - CG13117

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - CkIIα

enzymatic study, autoradiography

(Stark et al., 2011)

Raf - cnk

anti tag coimmunoprecipitation, western blot, peptide massfingerprinting, two hybrid

(Maisonneuve et al., 2024, Friedman et al., 2011, Therrien et al., 1998)

Raf - CSN8

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - CtsL1

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - Dlc90F

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - drk

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - Dsor1

anti tag coimmunoprecipitation, peptide massfingerprinting, two hybrid, anti tag western blot

(Maisonneuve et al., 2024, Friedman et al., 2011, Therrien et al., 1998)

Raf - eEF2

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - eIF4A

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - Eip63E

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - fmt

anti tag coimmunoprecipitation, peptide massfingerprinting, anti tag western blot

(Friedman et al., 2011, Friedman et al., 2011)

Raf - galla-2

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - GckIII

anti tag coimmunoprecipitation, anti tag western blot

(Friedman and Perrimon, 2006)

Raf - GCS2β

anti tag coimmunoprecipitation, peptide massfingerprinting, anti tag western blot

(Friedman et al., 2011, Friedman et al., 2011)

Raf - Gfat2

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - Gyf

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - Hrb87F

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - Hsp60A

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - Hsp70Ab

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - Hsp83

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - Ipo9

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - Kcmf1

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - krz

anti tag coimmunoprecipitation, anti tag western blot

(Tipping et al., 2010)

Raf - ksr

anti tag coimmunoprecipitation, anti tag western blot, peptide massfingerprinting

(Maisonneuve et al., 2024, Friedman et al., 2011)

Raf - Lk6

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - Mcad

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - morgue

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - NAT1

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - nesd

anti tag coimmunoprecipitation, anti tag western blot

(Friedman et al., 2011)

Raf - Nfs1

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - Nup50

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - Past1

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - Pdha1

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - PH4αEFB

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - pic

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - PpV

anti tag coimmunoprecipitation, anti tag western blot, peptide massfingerprinting

(Friedman et al., 2011, Friedman et al., 2011)

Raf - Psa

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - Pyk

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - Rack1

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - Rap1

two hybrid, anti tag coimmunoprecipitation, anti tag western blot

(Ding et al., 2010, Mishra et al., 2005)

Raf - Ras64B

pull down, autoradiography

(Vega-Cuesta et al., 2020, Yang and Terman, 2012)

Raf - Ras85D

two hybrid, anti tag coimmunoprecipitation, anti tag western blot, pull down

(Yang and Terman, 2012, Ding et al., 2010, Mishra et al., 2005)

Raf - rl

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - RpL3

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - RpL17

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - RpL27

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - RpL27A

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - RpL28

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - RpL35A

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - Rpn1

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - RpS15Aa

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - RpS18

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - RpS26

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - RpS27A

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - Rpt1

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - Rpt5

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - ScsβA

anti tag coimmunoprecipitation, anti tag western blot

(Friedman et al., 2011)

Raf - SERCA

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - sesB

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - shv

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - sip2

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - Slik

anti tag coimmunoprecipitation, anti tag western blot

(Hipfner and Cohen, 2003)

Raf - SPARC

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - Ssb-c31a

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - TBPH

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - Tim23

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - Tkt

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - wal

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Raf - yata

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Alleles Reported to Model Human Disease (Disease Ontology) (20 alleles)

RhoGEF2

Models Based on Experimental Evidence ( 2 )

Allele

Disease

Evidence

References

RhoGEF2^HMS01118

model of cancer

CEA with Stat92E^{ΔNΔC.UASp.Tag:HA}, scrib^KK101128

(Tamori et al., 2016)

RhoGEF2^RE.UAS

model of cancer

CEA with Raf^UAS.F179

(Khoo et al., 2013)

CEA with Ras85D^G12V.UAS

(Khoo et al., 2013)

Modifiers Based on Experimental Evidence ( 1 )

Allele

Disease

Interaction

References

RhoGEF2^unspecified

exacerbates Epstein-Barr virus hepatitis

modeled by EBV\BRLF1^GMR.PA

(Adamson and Lajeunesse, 2012)

exacerbates infectious mononucleosis

modeled by EBV\BRLF1^GMR.PA

(Adamson and Lajeunesse, 2012)

exacerbates viral infectious disease

modeled by EBV\BRLF1^GMR.PA

(Adamson and Lajeunesse, 2012)

Raf

Models Based on Experimental Evidence ( 5 )

Allele

Disease

Evidence

References

Raf^F22.hs

model of cancer

CEA

(Zhao et al., 2021)

Raf^UAS.F179

model of carcinoma

CEA with scrib¹

(Wei et al., 2021, Uhlirova et al., 2005)

model of cancer

CEA with RhoGEF2^RE.UAS

(Khoo et al., 2013)

CEA

(Xu et al., 2023, Ren et al., 2022, Brás et al., 2021, Lee et al., 2021, Pfeifle et al., 2019)

CEA with scrib¹

(Yang et al., 2022)

Raf^{A572E.UAS.Tag:FLAG}

model of cancer

CEA

(Pfeifle et al., 2019)

Raf^CA.UAS.cUa

model of high grade glioma

CEA

(Xie et al., 2023)

Raf^RNAi.UAS.cUa

model of cardiomyopathy

CEA

(Yu et al., 2013)

Modifiers Based on Experimental Evidence ( 10 )

Allele

Disease

Interaction

References

Raf¹²

ameliorates neurofibromatosis

modeled by Nf1^E2

(Walker et al., 2006)

Raf⁷

ameliorates multiple endocrine neoplasia type 2B

modeled by Ret^MEN2B.UAS

(Sonoshita et al., 2018)

Raf^DN.UAS

ameliorates carcinoma

modeled by Ras85D^V12.UAS

(Zoranovic et al., 2018)

Raf^F22.hs

model of cancer

is ameliorated by slif^UY681

(Zhao et al., 2021)

is ameliorated by Atg1^HMS02750

(Zhao et al., 2021)

is exacerbated by Atg101^6h

(Zhao et al., 2021)

is ameliorated by Atg16^MI00187

(Zhao et al., 2021)

is ameliorated by Atg5^HMS01244

(Zhao et al., 2021)

is ameliorated by Atg6^HMS01483

(Zhao et al., 2021)

is ameliorated by Balat^HMC06377

(Zhao et al., 2021)

is ameliorated by CarT^HMC04919

(Zhao et al., 2021)

is ameliorated by Cat^UAS.cAa

(Zhao et al., 2021)

is ameliorated by bsk^HMS00777

(Zhao et al., 2021)

is ameliorated by bsk^K53R.UAS

(Zhao et al., 2021)

is ameliorated by slif^HMC05846

(Zhao et al., 2021)

Raf^UAS.F179

exacerbates hematologic cancer

modeled by mxc¹

(Kurihara et al., 2020)

exacerbates carcinoma

modeled by ft^k07918

(Garoia et al., 2005)

modeled by ft^G-rv

(Garoia et al., 2005)

model of carcinoma

is ameliorated by hep^Act.UAS

(Uhlirova et al., 2005)

model of cancer

is ameliorated by Atg1^UAS.cSa

(Lee et al., 2021)

is exacerbated by mad2^GLC01381

(Brás et al., 2021)

is exacerbated by Mps1^GL00184

(Brás et al., 2021)

is exacerbated by Mps1^HMS01546

(Brás et al., 2021)

is ameliorated by dind^{RNAi.UAS.RNAi}

(Ren et al., 2022)

exacerbates cancer

modeled by Mps1^GL00184

(Brás et al., 2021)

modeled by Mps1^HMS01546

(Brás et al., 2021)

modeled by mad2^GLC01381

(Brás et al., 2021)

exacerbates gastrointestinal system cancer

modeled by Apc2^g10, Apc^Q8

(Wang et al., 2013)

Raf^XS-2541

ameliorates carcinoma

modeled by Ras85D^V12.UAS

(Karim and Rubin, 1998)

modeled by Ras85D^V12.ey

(Karim and Rubin, 1998)

Raf^GD9831

ameliorates Huntington's disease

modeled by Hsap\HTT^NT.128Q.UAS

(Miller et al., 2012)

Raf^KK100982

ameliorates autosomal dominant cerebellar ataxia

modeled by Hsap\ATXN1^82Q.UAS

(Park et al., 2013)

Raf^GL01125

ameliorates hematologic cancer

modeled by mxc¹

(Kurihara et al., 2020)

Raf^CA.UAS.cUa

model of high grade glioma

is ameliorated by slo^JF02146

(Xie et al., 2023)

is ameliorated by slo^KO

(Xie et al., 2023)

is exacerbated by slo^UAS.cXa

(Xie et al., 2023)

is ameliorated by slo^HMC04093

(Xie et al., 2023)

Hsap\RAF1

Models Based on Experimental Evidence ( 5 )

Allele

Disease

Evidence

References

Hsap\RAF1^gof.UAS

model of cardiomyopathy

CEA

(Yu et al., 2013)

model of cancer

CEA

(Wang et al., 2023, Markstein et al., 2014)

CEA with Pi3K92E^{UAS.Tag:MYC,Tag:PM(hKRAS)}

(Wang et al., 2023)

model of Noonan syndrome

CEA

(Yu et al., 2015)

Hsap\RAF1^S259A.UAS

model of Noonan syndrome

CEA

(Das et al., 2021)

Hsap\RAF1^S257L.UAS

model of Noonan syndrome

CEA

(Das et al., 2021)

Hsap\RAF1^L613V.UAS

model of Noonan syndrome

CEA

(Das et al., 2021)

Hsap\RAF1^D486G.UAS

model of Noonan syndrome

CEA

(Das et al., 2021)

Modifiers Based on Experimental Evidence ( 1 )

Allele

Disease

Interaction

References

Hsap\RAF1^gof.UAS

model of cardiomyopathy

is ameliorated by Dsor1^RNAi.UAS.cUa

(Yu et al., 2013)

is ameliorated by rl^RNAi.UAS.cUa

(Yu et al., 2013)

is ameliorated by Dsor1^RNAi.UAS.cUa

(Yu et al., 2013)

model of Noonan syndrome

is ameliorated by yki^JF03119

(Yu et al., 2015)

is ameliorated by Tgi^UAS.B

(Yu et al., 2015)

Alleles Representing Disease-Implicated Variants

Genetic Tools, Stocks and Reagents

Sources of Stocks

Contact lab of origin for a reagent not available from a public stock center.

Bloomington Stock Center Disease Page

Related mammalian, viral, bacterial, or synthetic transgenes

Allele

Transgene

Publicly Available Stocks

P{UAS-cRaf1.gof}ra2, y¹ w^*

Hsap\RAF1^{Δ305.FRT.αTub84B.Tag:Myr(Src64B)}

P{Hsap\RAF1.Delta305.FRT}

Hsap\RAF1^{Δ305.αTub84B.Tag:Myr(Src64B)}

P{Hsap\RAF1.Delta305.alphaTub84B}

Selected Drosophila transgenes

Allele

Transgene

Publicly Available Stocks

Raf^{A572E.UAS.Tag:FLAG}

P{UAS-Raf.A572E.FLAG}

w^*; P{UAS-Raf.gof}F179

Raf^F22.hs

P{Hsp70-Draf.gof}

w^*; P{Hsp70-Draf.gof}3/TM3, Sb¹

RNAi constructs available

Allele

Transgene

Publicly Available Stocks

w¹¹¹⁸; P{GD9831}v20909

y¹ v¹; P{TRiP.JF01185}attP2

Raf^JF01483

P{TRiP.JF01483}

y¹ v¹; P{TRiP.JF01483}attP2

y¹ v¹; P{TRiP.GL01125}attP40

Raf^HMC03854

P{TRiP.HMC03854}

y¹ sc^* v¹ sev²¹; P{TRiP.HMC03854}attP2

Raf^HMC04133

P{TRiP.HMC04133}

y¹ v¹; P{TRiP.HMC04133}attP2

RhoGEF2^RNAi.UAS

M{UAS-RhoGEF2.RNAi}

w^*; M{UAS-RhoGEF2.RNAi}ZH-86Fb

y¹ v¹; P{TRiP.JF01747}attP2

RhoGEF2^HMS01118

P{TRiP.HMS01118}

y¹ sc^* v¹ sev²¹; P{TRiP.HMS01118}attP2

Selected Drosophila classical alleles

Allele

Allele class

Mutagen

Publicly Available Stocks

Raf⁹²⁶

loss of function allele

ethyl methanesulfonate

Raf^raf-1

amorphic allele - genetic evidence

nitrosomethyl urea

Raf^XS-2541

X ray

Raf^raf-2

loss of function allele

Raf¹

amorphic allele - genetic evidence

X ray

Raf^400B8

amorphic allele - genetic evidence

1,2-dichloroethane

Raf¹¹

amorphic allele - genetic evidence

spontaneous

Raf¹¹/FM6, l(1)FMa¹/Dp(1;Y)Bar^Sw⁺y⁺

Raf^C2Z2

amorphic allele - genetic evidence

ethyl methanesulfonate

Raf⁷

loss of function allele

ethyl methanesulfonate

Raf⁷/FM7a

Raf¹²

hycanthon methanesulfonate

y¹ w^a Raf¹²/FM6, wⁱ Myc⁺

Raf¹⁰⁷

amorphic allele - genetic evidence

ethyl methanesulfonate

Raf⁶

amorphic allele - genetic evidence

ethyl methanesulfonate

Raf^X1

amorphic allele - genetic evidence

X ray

Raf⁵

amorphic allele - genetic evidence

ethyl methanesulfonate

RhoGEF2⁰⁴²⁹¹

loss of function allele

P-element activity

cn¹ P{PZ}RhoGEF2⁰⁴²⁹¹/CyO; ry⁵⁰⁶

RhoGEF2^1.1

loss of function allele

ethyl methanesulfonate

y¹ w^*; RhoGEF2^1.1/CyO; P{neoFRT}82B ssh^1-11/TM6B, P{Car20y}TPN1, Tb¹

RhoGEF2^4.4

loss of function allele

ethyl methanesulfonate

w^*; RhoGEF2^4.4/CyO, P{GAL4-Kr.C}DC3, P{UAS-GFP.S65T}DC7

RhoGEF2^4.1

loss of function allele

ethyl methanesulfonate

y¹ w^*; P{FRT(w^hs)}G13 RhoGEF2^4.1/CyO

RhoGEF2^unspecified

References (3)

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