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ITM2A integral membrane protein 2A [ Homo sapiens (human) ]

Gene ID: 9452, updated on 13-Mar-2020

Summary

Official Symbol
ITM2Aprovided by HGNC
Official Full Name
integral membrane protein 2Aprovided by HGNC
Primary source
HGNC:HGNC:6173
See related
Ensembl:ENSG00000078596 MIM:300222
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
E25A; BRICD2A
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]
Expression
Ubiquitous expression in ovary (RPKM 64.9), thyroid (RPKM 48.1) and 23 other tissues See more
Orthologs

Genomic context

See ITM2A in Genome Data Viewer
Location:
Xq21.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (79360384..79367552, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (78615881..78623164, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985690 Neighboring gene collagen triple helix repeat containing 1 pseudogene 1 Neighboring gene kinesin family member 4C, pseudogene Neighboring gene CORO1C pseudogene 1 Neighboring gene uncharacterized LOC105373282

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Many sequence variants affecting diversity of adult human height.
NHGRI GWA Catalog
Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
amyloid-beta binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
immunoglobulin production IEA
Inferred from Electronic Annotation
more info
 
negative regulation of amyloid precursor protein biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma cell differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
integral membrane protein 2A
Names
BRICHOS domain containing 2A

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016412.1 RefSeqGene

    Range
    5219..12169
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001171581.1NP_001165052.1  integral membrane protein 2A isoform 2

    See identical proteins and their annotated locations for NP_001165052.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) is missing an in-frame coding exon compared to variant 1, resulting in a shorter isoform (2) lacking a 44 aa protein segment compared to isoform 1.
    Source sequence(s)
    AK303238, AY359051, BM561934, DA365726
    Consensus CDS
    CCDS55455.1
    UniProtKB/Swiss-Prot
    O43736
    Related
    ENSP00000415533.2, ENST00000434584.2
    Conserved Domains (1) summary
    smart01039
    Location:89181
    BRICHOS; The BRICHOS domain is found in a variety of proteins implicated in dementia, respiratory distress and cancer
  2. NM_004867.5NP_004858.1  integral membrane protein 2A isoform 1

    See identical proteins and their annotated locations for NP_004858.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AY359051, BC040437, BM561934, DA365726
    Consensus CDS
    CCDS14444.1
    UniProtKB/Swiss-Prot
    O43736
    Related
    ENSP00000362395.2, ENST00000373298.7
    Conserved Domains (1) summary
    smart01039
    Location:133225
    BRICHOS; The BRICHOS domain is found in a variety of proteins implicated in dementia, respiratory distress and cancer

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    79360384..79367552 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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