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

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; AllianceGenome:HGNC:6173
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: mouse all
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Genomic context

Location:: Xq21.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (79360384..79367334, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (77797066..77804015, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (78615881..78622831, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association of ITM2A rs1751094 polymorphism on X chromosome in Korean pediatric patients with autoimmune thyroid disease.
Title: Association of ITM2A rs1751094 polymorphism on X chromosome in Korean pediatric patients with autoimmune thyroid disease.
[Study on the Relationship between Integrin 2A and Drug Resistance in Chronic Myeloid Leukemia].
Title: [Study on the Relationship between Integrin 2A and Drug Resistance in Chronic Myeloid Leukemia].
Integral Membrane Protein 2A Is a Negative Regulator of Canonical and Non-Canonical Hedgehog Signalling.
Title: Integral Membrane Protein 2A Is a Negative Regulator of Canonical and Non-Canonical Hedgehog Signalling.
Downregulation of ITM2A Gene Expression in Macrophages of Patients with Ankylosing Spondylitis.
Title: Downregulation of ITM2A Gene Expression in Macrophages of Patients with Ankylosing Spondylitis.
GPR174 and ITM2A Gene Polymorphisms rs3827440 and rs5912838 on the X chromosome in Korean Children with Autoimmune Thyroid Disease.
Title: GPR174 and ITM2A Gene Polymorphisms rs3827440 and rs5912838 on the X chromosome in Korean Children with Autoimmune Thyroid Disease.
The ITM2A is a novel positive regulator of autophagy through an mTOR-dependent manner.
Title: Integral membrane protein 2A inhibits cell growth in human breast cancer via enhancing autophagy induction.
ITM2A might be a susceptibility gene for Graves disease in the Xq21.1 locus, and environmental factors, such as viral and bacterial infections, probably contribute to GD pathogenesis by interacting with the risk SNP rs3827440 mediating the regulation of ITM2A expression.
Title: ITM2A Expands Evidence for Genetic and Environmental Interaction in Graves Disease Pathogenesis.
ITM2A is a new biomarker of poor prognosis in ovarian cancer and a novel tumor suppressor that induces cell cycle arrest, acts as a chemosensitizer, and has therapeutic potential for ovarian cancer.
Title: Loss of ITM2A, a novel tumor suppressor of ovarian cancer through G2/M cell cycle arrest, is a poor prognostic factor of epithelial ovarian cancer.
The upregulated gene with the largest effect size in ankylosing spondylitis was ITM2A, which plays a role in activation of T cells. (Meta-analysis)
Title: Meta-analysis of differentially expressed genes in ankylosing spondylitis.
ITM2A expression is positively regulated by PKA-CREB signaling and ITM2A expression interferes with autophagic flux by interacting with vacuolar ATPase.
Title: The integral membrane protein ITM2A, a transcriptional target of PKA-CREB, regulates autophagic flux via interaction with the vacuolar ATPase.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DXS346 (e-PCR)
- UniSTS:99697

WI-20932 (e-PCR)
- UniSTS:23165

ITM2A (e-PCR)
- UniSTS:506591

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables amyloid-beta binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of amyloid precursor protein biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in plasma cell differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: integral membrane protein 2A

Names: BRICHOS domain containing 2A

NCBI Reference Sequences (RefSeq)

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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

NG_016412.1 RefSeqGene

Range

5219..12169

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001171581.2 → NP_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/TrEMBL

Q53FG2

Related

ENSP00000415533.2, ENST00000434584.2

Conserved Domains (1) summary

smart01039
Location:89 → 181

BRICHOS; The BRICHOS domain is found in a variety of proteins implicated in dementia, respiratory distress and cancer
NM_004867.5 → NP_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

B2R7X5, B4E062, O43736, Q6IBC9

UniProtKB/TrEMBL

Q53FG2

Related

ENSP00000362395.2, ENST00000373298.7

Conserved Domains (1) summary

smart01039
Location:133 → 225

BRICHOS; The BRICHOS domain is found in a variety of proteins implicated in dementia, respiratory distress and cancer