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

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

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
Others ITM2A NCBI