1. Gene
  2. ITM2A - integral membrane protein 2A Gene

ITM2A - integral membrane protein 2A Gene

Homo sapiens

Also known as E25A; BRICD2A

Gene ID: 9452 | Gene type: protein coding

About ITM2A

Cytogenetic location: Xq21.1 Genomic coordinates (GRCh38): X:79,360,384-79,367,334 (from NCBI)

This gene has 6 transcripts (splice variants), 174 orthologues, 2 paralogues and is associated with 1 phenotype. Ubiquitous expression in ovary (RPKM 64.9), thyroid (RPKM 48.1) and 23 other tissues.

Summary

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 found for this gene. [provided by RefSeq, Jan 2010]

ITM2A Products(2)

mRNA Protein Name
NM_001171581.2 NP_001165052.1 integral membrane protein 2A isoform 2
NM_004867.5 NP_004858.1 integral membrane protein 2A isoform 1
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
15983050 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ITM2A Protein Structure

BRICHOS

BRICHOS: BRICHOS domain (133 - 227)

  • 0
  • 100
  • 200
  • 263 a.a.
Protein Preferred Names Protein Names

integral membrane protein 2A

BRICHOS domain containing 2A

ITM2A Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
ITM2A O43736 TMED9 Homo sapiens Q9BVK6 32296183
Intra
ITM2A O43736 TMED9 Homo sapiens Q9BVK6 32296183
Intra
ITM2A O43736 TMED9 Homo sapiens Q9BVK6 32296183
Intra
ITM2A O43736 TMEM179B Homo sapiens Q7Z7N9 32296183
Intra
ITM2A O43736 TMEM179B Homo sapiens Q7Z7N9 32296183
Intra
ITM2A O43736 TMEM179B Homo sapiens Q7Z7N9 32296183
Intra
ITM2A O43736 FNDC9 Homo sapiens Q8TBE3 32296183
Intra
ITM2A O43736 FNDC9 Homo sapiens Q8TBE3 32296183
Intra
ITM2A O43736 FNDC9 Homo sapiens Q8TBE3 32296183
Intra
ITM2A O43736 FCGR1A Homo sapiens P12314 32296183
Intra
ITM2A O43736 FCGR1A Homo sapiens P12314 32296183
Intra
ITM2A O43736 FCGR1A Homo sapiens P12314 32296183
Intra
ITM2A O43736 APP Homo sapiens P05067-4 15983050
Intra
ITM2A O43736 APP Homo sapiens P05067-4 15983050
Intra
ITM2A O43736 SIT1 Homo sapiens Q9Y3P8 32296183
Intra
ITM2A O43736 SIT1 Homo sapiens Q9Y3P8 32296183
Intra
ITM2A O43736 SIT1 Homo sapiens Q9Y3P8 32296183
Intra
ITM2A O43736 CLDN7 Homo sapiens O95471 32296183
Intra
ITM2A O43736 CLDN7 Homo sapiens O95471 32296183
Intra
ITM2A O43736 CLDN7 Homo sapiens O95471 32296183
Intra
ITM2A O43736 MEOX2 Homo sapiens P50222 25416956
Intra
ITM2A O43736 MEOX2 Homo sapiens P50222 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Cleft Palate With Or Without Ankyloglossia, X-Linked

Cleft Palate With Ankyloglossia

CPX

X-Linked Cleft Palate And Ankyloglossia

X-Linked Cleft Palate With Or Without Ankyloglossia

X-Linked Cleft Palate

X-Linked Cleft Palate With Ankyloglossia

Cleft Palate, With/Without Ankyloglossia, X-Linked

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus ITM2A VGNC VGNC:67865
Macaca mulatta ITM2A VGNC VGNC:73798
Bos taurus ITM2A VGNC VGNC:30339
Mus musculus ITM2A MGD MGI:107706
Rattus norvegicus ITM2A RGD RGD:1559423