• Gene id: 9452

Gene Summary

• Gene Symbol: ITM2A   Gene   UCSC   Ensembl
• Aliases: BRICD2A, E25A
• Gene name: integral membrane protein 2A
• Alternate names: integral membrane protein 2A, BRICHOS domain containing 2A,
• Gene location: Xq21.1 (79367551: 79360383)     Exons: 6     NC_000023.11
• Gene summary(Entrez): This gene encodes a type II membrane protein that belongs to the ITM2 family. Studies in mouse suggest that it may be involved in osteo- and chondrogenic differentiation. Alternatively spliced transcript variants encoding different isoforms have been foun
• OMIM: 300222

Protein Summary

• Protein general information: O43736  
  • Name: Integral membrane protein 2A (Protein E25)
  • Length: 263  
  • Mass: 29741
• Sequence:

  MVKIAFNTPTAVQKEEARQDVEALLSRTVRTQILTGKELRVATQEKEGSSGRCMLTLLGLSFILAGLIVGGACIY
  KYFMPKSTIYRGEMCFFDSEDPANSLRGGEPNFLPVTEEADIREDDNIAIIDVPVPSFSDSDPAAIIHDFEKGMT
  AYLDLLLGNCYLMPLNTSIVMPPKNLVELFGKLASGRYLPQTYVVREDLVAVEEIRDVSNLGIFIYQLCNNRKSF
  RLRRRDLLLGFNKRAIDKCWKIRHFPNEFIVETKICQE

• Structural information:
  • Protein Domains: (133..22-)
    (/note="BRICHOS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00255"-)
  • Interpro: IPR007084  IPR040145  
  • Prosite: PS50869
  • STRING: ENSP00000362395
• Other Databases: GeneCards:  ITM2A  Malacards:  ITM2A

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0002377	immunoglobulin production	IEA	biological process
GO:0002317	plasma cell differentiation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0042985	negative regulation of amyloid precursor protein biosynthetic process	IBA	biological process
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0001540	amyloid-beta binding	IBA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881