FlyBase Gene Report: Dmel\mfr

FB2026_01 , released March 12, 2026

FB2026_01 , released March 12, 2026

Gene: Dmel\mfr

General Information

Symbol

Dmel\mfr

Species

D. melanogaster

Name

misfire

Annotation Symbol

CG5747

Feature Type

protein_coding_gene

FlyBase ID

FBgn0266757

Gene Model Status

Stock Availability

8 publicly available

Gene Summary

misfire (mfr) is a ferlin gene that encodes a protein involved in gamete generation. [Date last reviewed: 2019-09-26] (FlyBase Gene Snapshot)

All Summaries

Gene Snapshot
Alliance
Auto summary
Interactive Fly

Also Known As

Otoferlin

Key Links

Genomic Location

Cytogenetic map

Sequence location

3L:8,905,918..8,912,671 [-]

Recombination map

3-27

RefSeq locus

NT_037436 REGION:8905918..8912671

Sequence

Get Decorated FASTA

Genomic Maps

Other Genome Views

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

Function

Gene Ontology (GO) Annotations (9 terms)

Molecular Function (0 terms)

Terms Based on Experimental Evidence (0 terms)

Terms Based on Predictions or Assertions (0 terms)

Biological Process (8 terms)

Terms Based on Experimental Evidence (6 terms)

CV Term

Evidence

References

involved_in chorion-containing eggshell pattern formation

inferred from mutant phenotype

(Smith, 2007)

involved_in egg activation

inferred from mutant phenotype

(Smith, 2007)

involved_in fertilization

inferred from mutant phenotype

(Smith, 2007)

involved_in regulation of embryonic development

inferred from mutant phenotype

(Smith, 2007)

involved_in sperm capacitation

inferred from mutant phenotype

(Smith, 2007)

involved_in sperm plasma membrane disassembly

inferred from mutant phenotype

(Smith, 2007)

Terms Based on Predictions or Assertions (2 terms)

CV Term

Evidence

References

involved_in plasma membrane organization

inferred from biological aspect of ancestor with PANTHER:PTN000284089

(GO Reference Genome Project, 2011-)

involved_in synaptic vesicle exocytosis

inferred from sequence or structural similarity

(Littleton, 2000)

Cellular Component (1 term)

Terms Based on Experimental Evidence (0 terms)

Terms Based on Predictions or Assertions (1 term)

CV Term

Evidence

References

located_in synaptic vesicle

inferred from sequence or structural similarity

(Littleton, 2000)

Gene Group (FlyBase)

Protein Family (UniProt)

-

Protein Signatures (InterPro)

Summaries

Gene Snapshot

misfire (mfr) is a ferlin gene that encodes a protein involved in gamete generation. [Date last reviewed: 2019-09-26]

Gene Model and Products

Number of Transcripts

7

Number of Unique Polypeptides

7

Please see the JBrowse view of Dmel\mfr 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

Protein 3D structure (Predicted by AlphaFold) (AlphaFold entry B7Z0E5)

If you don't see a structure in the viewer, 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.

Experimentally Determined Structures

Crossreferences

Comments on Gene Model

Gene model reviewed during 5.55

Gene model reviewed during 5.45

Gene model includes transcripts encoding non-overlapping portions of the full CDS (FBrf0200139).

Transcript Data

Annotated Transcripts

Name

FlyBase ID

RefSeq ID

Length (nt)

Assoc. CDS (aa)

FBtr0273285

5143

1045

FBtr0273286

5583

1398

FBtr0273287

5105

1351

FBtr0273288

5744

639

FBtr0273289

5172

1647

FBtr0273290

5218

1439

FBtr0273291

5082

648

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

UniProt

RefSeq ID

GenBank

FBpp0271793

118.7

1045

6.23

FBpp0271794

160.0

1398

6.49

FBpp0271795

154.5

1351

6.82

FBpp0271796

72.7

639

8.92

FBpp0271797

188.7

1647

6.48

FBpp0271798

165.0

1439

6.70

FBpp0271799

74.8

648

7.10

Polypeptides with Identical Sequences

None of the polypeptides share 100% sequence identity.

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

Mapped Features

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

External Data

Crossreferences

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

mfr_1

Linkouts

Expression Data

Testis-specificity index

The testis specificity index was calculated from modENCODE tissue expression data by Vedelek et al., 2018 to indicate the degree of testis enrichment compared to other tissues. Scores range from -2.52 (underrepresented) to 5.2 (very high testis bias).

2.61

Transcript Expression

Additional Descriptive Data

Marker for

Subcellular Localization

CV Term

Polypeptide Expression

Additional Descriptive Data

Marker for

Subcellular Localization

CV Term

Evidence

References

Expression Deduced from Reporters

High-Throughput Expression Data

Associated Tools

JBrowse - Visual display of RNA-Seq signals

View Dmel\mfr in JBrowse

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

View exonic expression by developmental stage for Dmel\mfr

View exonic expression by tissue for Dmel\mfr

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

39016/tissue=All

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

FBgn0266757

FlyAtlas - Adult expression by tissue, using Affymetrix Dros2 array

FBgn0035935

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

FBgn0266757

Images

Image Based Resources

Alleles, Insertions, Transgenic Constructs, and Aberrations

Classical and Insertion Alleles ( 18 )

For All Classical and Insertion Alleles Show

Other relevant insertions

Transgenic Constructs ( 5 )

For All Alleles Carried on Transgenic Constructs Show

Transgenic constructs containing/affecting coding region of mfr

Transgenic constructs containing regulatory region of mfr

Aberrations (Deficiencies and Duplications) ( 2 )

Inferred from experimentation ( 2 )

Gene disrupted in

(Smith, 2007)

(Smith, 2007)

Inferred from location ( 6 )

Variants

Variant Molecular Consequences

Alleles Representing Disease-Implicated Variants

Phenotypes

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

Sterility

Allele

female semi-sterile (with mfr^Z1386)

mfr^Z4070

female semi-sterile (with mfr^Z4070)

mfr^Z1386

male sterile (with Df(3L)ED4415)

male sterile (with Df(3L)hry-i22)

Other Phenotypes

Allele

abnormal developmental rate | embryonic stage (with mfr^Z1386)

mfr^Z4070

abnormal developmental rate | embryonic stage (with mfr^Z4070)

mfr^Z1386

Phenotype manifest in

Allele

dorsal appendage (with Df(3L)hry-i22)

dorsal appendage (with mfr^Z0695)

dorsal appendage (with mfr^Z1386)

dorsal appendage (with mfr^Z4070)

egg chamber (with Df(3L)hry-i22)

egg chamber (with mfr^Z0695)

egg chamber (with mfr^Z1386)

egg chamber (with mfr^Z4070)

male pronucleus

plasma membrane & spermatozoon

mfr^Z0695

spermatozoon & nucleus

mfr¹

Orthologs

Downloads

Download All DIOPT Orthologs

Human Orthologs (via DIOPT v9.1)

Species\Gene Symbol

Score

Best Score

Best Reverse Score

Source

Alignment

Complementation?

Transgene?

Homo sapiens (Human) (6)

13 of 14

Yes

Yes

12 of 14

No

Yes

10 of 14

No

Yes

10 of 14

No

Yes

9 of 14

No

Yes

7 of 14

No

Yes

Model Organism Orthologs (via DIOPT v9.1)

Species\Gene Symbol

Score

Best Score

Best Reverse Score

Source

Alignment

Complementation?

Transgene?

Rattus norvegicus (Norway rat) (6)

12 of 14

Yes

Yes

12 of 14

Yes

Yes

11 of 14

No

Yes

10 of 14

No

Yes

10 of 14

No

Yes

9 of 14

No

Yes

Mus musculus (laboratory mouse) (6)

13 of 14

Yes

Yes

12 of 14

No

Yes

11 of 14

No

Yes

10 of 14

No

Yes

10 of 14

No

Yes

8 of 14

No

Yes

Xenopus tropicalis (Western clawed frog) (17)

10 of 13

Yes

Yes

9 of 13

No

Yes

8 of 13

No

Yes

7 of 13

No

Yes

Xtro\LOC100492989

7 of 13

No

Yes

7 of 13

No

Yes

7 of 13

No

Yes

6 of 13

No

Yes

Xtro\LOC100487361

6 of 13

No

Yes

Xtro\LOC100488564

6 of 13

No

Yes

6 of 13

No

Yes

Xtro\LOC101733599

4 of 13

No

Yes

1 of 13

No

Yes

1 of 13

No

No

1 of 13

No

No

Xtro\LOC101734097

1 of 13

No

Yes

1 of 13

No

No

Danio rerio (Zebrafish) (8)

13 of 14

Yes

Yes

12 of 14

No

Yes

11 of 14

No

Yes

10 of 14

No

Yes

10 of 14

No

Yes

10 of 14

No

Yes

9 of 14

No

Yes

Drer\LOC110440100

1 of 14

No

Yes

Caenorhabditis elegans (Nematode, roundworm) (2)

9 of 14

Yes

Yes

2 of 14

No

Yes

Anopheles gambiae (African malaria mosquito) (2)

Agam\AgaP_AGAP000389

9 of 12

Yes

Yes

Agam\AgaP_AGAP004862

9 of 12

Yes

Yes

Arabidopsis thaliana (thale-cress) (0)

Saccharomyces cerevisiae (Brewer's yeast) (0)

Schizosaccharomyces pombe (Fission yeast) (0)

Escherichia coli (enterobacterium) (0)

Other Organism Orthologs (via OrthoDB)

Data provided directly from OrthoDB:mfr. Refer to their site for version information.

Paralogs

Downloads

Download All DIOPT Paralogs

Paralogs (via DIOPT v9.1)

Gene Symbol

Score

Source

Alignment

Drosophila melanogaster (Fruit fly) (1)

1 of 13

Human Disease Associations

FlyBase Human Disease Model Reports

Disease Ontology (DO) Annotations

Models Based on Experimental Evidence ( 0 )

Allele

Disease

Evidence

References

Potential Models Based on Orthology ( 4 )

Human Ortholog

Disease

Evidence

References

OTOF; otoferlin

model of autosomal recessive nonsyndromic deafness 9

IEA

(FlyBase, 2019-)

DYSF; dysferlin

model of Miyoshi muscular dystrophy 1

IEA

(FlyBase, 2019-)

model of distal myopathy with anterior tibial onset

IEA

(FlyBase, 2019-)

model of autosomal recessive limb-girdle muscular dystrophy type 2B

IEA

(FlyBase, 2019-)

Modifiers Based on Experimental Evidence ( 1 )

Allele

Disease

Interaction

References

exacerbates atypical teratoid rhabdoid tumor

modeled by Snr1^KK101602

(Tegeder et al., 2019)

Disease Associations of Human Orthologs (via DIOPT v9.1 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?

FER1L6; fer-1 like family member 6

13 of 14

OTOF; otoferlin

12 of 14

DEAFNESS, AUTOSOMAL RECESSIVE 9; DFNB9

autosomal recessive nonsyndromic deafness 9

DYSF; dysferlin

10 of 14

MYOF; myoferlin

10 of 14

ANGIOEDEMA, HEREDITARY, 7; HAE7

FER1L5; fer-1 like family member 5

9 of 14

FER1L4; fer-1 like family member 4 (pseudogene)

7 of 14

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

Interaction Browsers

Summary of Genetic Interactions

Interaction Browsers

View in FlyBase Interactions Browser View in MIST tool (external link)

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

Starting gene(s)

Interaction type

Interacting gene(s)

Reference

Starting gene(s)

Interaction type

Interacting gene(s)

Reference

suppressible

(Tegeder et al., 2019)

External Data

Linkouts

DroID - A comprehensive database of gene and protein interactions.

FBgn0266757

Pathways

Signaling Pathways (FlyBase)

Metabolic Pathways

FlyBase

External Links

External Data

Linkouts

Class of Gene

protein_coding_gene

Genomic Location and Detailed Mapping Data

Chromosome (arm)

3L

Recombination map

3-27

Cytogenetic map

Sequence location

3L:8,905,918..8,912,671 [-]

FlyBase Computed Cytological Location

Cytogenetic map

Evidence for location

66E3-66E3

Limits computationally determined from genome sequence between P{PZ}l(3)01629⁰¹⁶²⁹&P{PZ}mRpL12¹⁰⁵³⁴ and P{EP}Hsp26^EP3336&P{EP}Hsp26^EP3315

Experimentally Determined Cytological Location

Cytogenetic map

Notes

References

Experimentally Determined Recombination Data

Location

3-27

(FlyBase, 2016)

3-21.2

(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

24747

w¹¹¹⁸; Mi{ET1}mfr^MB05150

51769

y¹ v¹; P{TRiP.HMC03324}attP40

59548

y¹ w^*; Mi{MIC}mfr^MI14613

98524

y¹ w^*; TI{CRIMIC.TG4.0}mfr^{CR70821-TG4.0}

35689

y¹ sc^* v¹ sev²¹; P{TRiP.GLV21054}attP2

37641

y¹ w^*; Mi{MIC}mfr^MI04347/TM3, Sb¹ Ser¹

5747Ra-1

v103726

P{KK102150}VIE-260B

Genomic Clones (37)

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

cDNA Clones (0)

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 JBrowse 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.

cDNA Clones, End Sequenced (ESTs)

BDGP DGC clones

Other clones

RNAi and Array Information

Linkouts

Antibody Information

Laboratory Generated Antibodies

Commercially Available Antibodies

Cell Line Information

Publicly Available Cell Lines

Other Stable Cell Lines

Other Comments

Homozygous mutant males are sterile, producing a normal amount of motile sperm that are capable of being transferred to the female upon copulation, but almost completely fail to produce progeny. Mutant sperm show a defect in fertilisation; they fail to form male pronuclei.

(Yamamoto et al., 2004)

Relationship to Other Genes

Source for database merge of

Source for merge of: mfr Otoferlin

(Adolfsen and Littleton, 2001)

Additional comments

Nomenclature History

Source for database identify of

Source for identity of: mfr CG5747

(Ohsako et al., 2005)

Nomenclature comments

Etymology

Synonyms and Secondary IDs (4)

Reported As

Symbol Synonym

CG5747

(Ni et al., 2011.7.19, Ni et al., 2010.12.1, Keleman et al., 2009.8.5, Driscoll and Gerstbrein, 2003, Adolfsen and Littleton, 2001)

Otoferlin

mfr

(Sutton et al., 2024, Hagen et al., 2021, McKinney et al., 2021, Tegeder et al., 2019, Gene Disruption Project members, 2018-, Kuleesha et al., 2016, Japanese National Institute of Genetics, 2012.5.21, Seong et al., 2011, Smith, 2007, Ohsako et al., 2003)

Name Synonyms

Otoferlin

(Littleton, 2000)

misfire

(Gokhale et al., 2015, Lek et al., 2010, Nurminsky, 2007, Smith, 2007, Wilson et al., 2007, Ohsako et al., 2003)

Secondary FlyBase IDs

FBgn0035935
FBgn0044828

Datasets (0)

Study focus (0)

Experimental Role

Project

Project Type

Title

Study result (0)

Result

Result Type

Title

External Crossreferences and Linkouts ( 52 )

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.

39016

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.

B7Z0E5

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.

B7Z0E5

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

39016/tissue=All

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

FBgn0266757

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

FBgn0266757

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

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

dme:Dmel_CG5747

MARRVEL_MODEL - MARRVEL (model organism gene)

39016

Linkouts

DroID - A comprehensive database of gene and protein interactions.

FBgn0266757

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

mfr_1

FlyAtlas - Adult expression by tissue, using Affymetrix Dros2 array

FBgn0035935

FlyCyc Genes - Genes from a BioCyc PGDB for Dmel

FBGN0266757

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

FBgn0266757

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

References (43)