• Gene id: 3321

Gene Summary

• Gene Symbol: IGSF3   Gene   UCSC   Ensembl
• Aliases: EWI-3, LCDD, V8
• Gene name: immunoglobulin superfamily member 3
• Alternate names: immunoglobulin superfamily member 3, glu-Trp-Ile EWI motif-containing protein 3, immunoglobin superfamily, member 3,
• Gene location: 1p13.1 (116667754: 116574397)     Exons: 15     NC_000001.11
• Gene summary(Entrez): The protein encoded by this gene is an immunoglobulin-like membrane protein containing several V-type Ig-like domains. A mutation in this gene has been associated with bilateral nasolacrimal duct obstruction (LCDD). [provided by RefSeq, Jun 2016]
• OMIM: 612741

Protein Summary

• Protein general information: O75054  
  • Name: Immunoglobulin superfamily member 3 (IgSF3) (Glu Trp Ile EWI motif containing protein 3) (EWI 3)
  • Length: 1194  
  • Mass: 135196
  • Tissue specificity: Expressed in a wide range of tissues with High expression in Placenta, kidney and lung. {ECO
• Sequence:

  MKCFFPVLSCLAVLGVVSAQRQVTVQEGPLYRTEGSHITIWCNVSGYQGPSEQNFQWSIYLPSSPEREVQIVSTM
  DSSFPYAIYTQRVRGGKIFIERVQGNSTLLHITDLQARDAGEYECHTPSTDKQYFGSYSAKMNLVVIPDSLQTTA
  MPQTLHRVEQDPLELTCEVASETIQHSHLSVAWLRQKVGEKPVEVISLSRDFMLHSSSEYAQRQSLGEVRLDKLG
  RTTFRLTIFHLQPSDQGEFYCEAAEWIQDPDGSWYAMTRKRSEGAVVNVQPTDKEFTVRLETEKRLHTVGEPVEF
  RCILEAQNVPDRYFAVSWAFNSSLIATMGPNAVPVLNSEFAHREARGQLKVAKESDSVFVLKIYHLRQEDSGKYN
  CRVTEREKTVTGEFIDKESKRPKNIPIIVLPLKSSISVEVASNASVILEGEDLRFSCSVRTAGRPQGRFSVIWQL
  VDRQNRRSNIMWLDRDGTVQPGSSYWERSSFGGVQMEQVQPNSFSLGIFNSRKEDEGQYECHVTEWVRAVDGEWQ
  IVGERRASTPISITALEMGFAVTAISRTPGVTYSDSFDLQCIIKPHYPAWVPVSVTWRFQPVGTVEFHDLVTFTR
  DGGVQWGDRSSSFRTRTAIEKAESSNNVRLSISRASDTEAGKYQCVAELWRKNYNNTWTRLAERTSNLLEIRVLQ
  PVTKLQVSKSKRTLTLVENKPIQLNCSVKSQTSQNSHFAVLWYVHKPSDADGKLILKTTHNSAFEYGTYAEEEGL
  RARLQFERHVSGGLFSLTVQRAEVSDSGSYYCHVEEWLLSPNYAWYKLAEEVSGRTEVTVKQPDSRLRLSQAQGN
  LSVLETRQVQLECVVLNRTSITSQLMVEWFVWKPNHPERETVARLSRDATFHYGEQAAKNNLKGRLHLESPSPGV
  YRLFIQNVAVQDSGTYSCHVEEWLPSPSGMWYKRAEDTAGQTALTVMRPDASLQVDTVVPNATVSEKAAFQLDCS
  IVSRSSQDSRFAVAWYSLRTKAGGKRSSPGLEEQEEEREEEEEEDDDDDDDPTERTALLSVGPDAVFGPEGSPWE
  GRLRFQRLSPVLYRLTVLQASPQDTGNYSCHVEEWLPSPQKEWYRLTEEESAPIGIRVLDTSPTLQSIICSNDAL
  FYFVFFYPFPIFGILIITILLVRFKSRNSSKNSDGKNGVPLLWIKEPHLNYSPTCLEPPVLSIHPGAID

• Structural information:
  • Protein Domains: (20..13-)
    1 (/note="Ig-like-C2-type)
    (143..26-)
    2 (/note="Ig-like-C2-type)
    (276..38-)
    3 (/note="Ig-like-C2-type)
    (401..53-)
    4 (/note="Ig-like-C2-type)
    (545..66-)
    5 (/note="Ig-like-C2-type)
    (676..80-)
    (/note="Ig-lik-)
  • Interpro: IPR007110  IPR036179  IPR013783  IPR003599  IPR003598   IPR013106  
  • Prosite: PS50835
  • STRING: ENSP00000358495
• Other Databases: GeneCards:  IGSF3  Malacards:  IGSF3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016021	integral component of membrane	IBA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0032808	lacrimal gland development	IMP	biological process
GO:0003674	molecular_function	ND	molecular function
GO:0009986	cell surface	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq