• Gene id: 257019

Gene Summary

• Gene Symbol: FRMD3   Gene   UCSC   Ensembl
• Aliases: 4.1O, EPB41L4O, EPB41LO, P410
• Gene name: FERM domain containing 3
• Alternate names: FERM domain-containing protein 3, band 4.1-like protein 4, band 4.1-like protein 4O, ovary type protein 4.1, protein 4.1O,
• Gene location: 9q21.32 (83585796: 83242989)     Exons: 22     NC_000009.12
• Gene summary(Entrez): The protein encoded by this gene is a single pass membrane protein primarily found in ovaries. A similar protein in erythrocytes helps determine the shape of red blood cells, but the function of the encoded protein has not been determined. There is some e
• OMIM: 607619

Protein Summary

• Protein general information: A2A2Y4  
  • Name: FERM domain containing protein 3 (Band 4.1 like protein 4O) (Ovary type protein 4.1) (4.1O)
  • Length: 597  
  • Mass: 68772
  • Tissue specificity: Ovary-specific. {ECO
• Sequence:

  MFASCHCVPRGRRTMKMIHFRSSSVKSLSQEMRCTIRLLDDSEISCHIQRETKGQFLIDHICNYYSLLEKDYFGI
  RYVDPEKQRHWLEPNKSIFKQMKTHPPYTMCFRVKFYPHEPLKIKEELTRYLLYLQIKRDIFHGRLLCSFSDAAY
  LGACIVQAELGDYDPDEHPENYISEFEIFPKQSQKLERKIVEIHKNELRGQSPPVAEFNLLLKAHTLETYGVDPH
  PCKDSTGTTTFLGFTAAGFVVFQGNKRIHLIKWPDVCKLKFEGKTFYVIGTQKEKKAMLAFHTSTPAACKHLWKC
  GVENQAFYKYAKSSQIKTVSSSKIFFKGSRFRYSGKVAKEVVEASSKIQREPPEVHRANITQSRSSHSLNKQLII
  NMEPLQPLLPSPSEQEEELPLGEGVPLPKEENISAPLISSSPVKAAREYEDPPSEEEDKIKEEPLTISELVYNPS
  ASLLPTPVDDDEIDMLFDCPSRLELEREDTDSFEDLEADENAFLIAEEEELKEARRALSWSYDILTGHIRVNPLV
  KSFSRLLVVGLGLLLFVFPLLLLLLESGIDLSFLCEIRQTPEFEQFHYEYYCPLKEWVAGKVHLILYMLGCS

• Structural information:
  • Protein Domains: (32..31-)
    (/note="FERM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00084"-)
  • Interpro: IPR019749  IPR000798  IPR014847  IPR014352  IPR035963   IPR019748  IPR019747  IPR000299  IPR018979  IPR018980  IPR011993  IPR029071  
  • Prosite: PS00660 PS50057
  • CDD: cd14473
  • STRING: ENSP00000303508
• Other Databases: GeneCards:  FRMD3  Malacards:  FRMD3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031032	actomyosin structure organization	IBA	biological process
GO:0005856	cytoskeleton	IBA	cellular component
GO:0008092	cytoskeletal protein binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq