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

Gene ID: 9452, updated on 2-Nov-2024

Summary

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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

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See ITM2A in Genome Data Viewer
Location:
Xq21.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (79360384..79367334, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (77797066..77804015, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (78615881..78622831, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. [Study on the Relationship between Integrin 2A and Drug Resistance in Chronic Myeloid Leukemia]. Zhao NQ, et al. Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2023 Feb. PMID 36765470
  2. Downregulation of ITM2A Gene Expression in Macrophages of Patients with Ankylosing Spondylitis. Lari A, et al. Int Arch Allergy Immunol, 2021. PMID 34161951
  3. Association of ITM2A rs1751094 polymorphism on X chromosome in Korean pediatric patients with autoimmune thyroid disease. Cho WK, et al. Immun Inflamm Dis, 2023 Mar. PMID 36988246, Free PMC Article
  4. Integral membrane protein 2A inhibits cell growth in human breast cancer via enhancing autophagy induction. Zhou C, et al. Cell Commun Signal, 2019 Aug 22. PMID 31438969, Free PMC Article
  5. Enhanced ITM2A expression inhibits chondrogenic differentiation of mesenchymal stem cells. Boeuf S, et al. Differentiation, 2009 Sep-Oct. PMID 19541402

See all (36) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. [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].
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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
Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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

  1. NG_016412.1 RefSeqGene

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

mRNA and Protein(s)

  1. 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

  2. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    79360384..79367334 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    77797066..77804015 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O43736.2 GenPept UniProtKB/Swiss-Prot:O43736

Gene LinkOut

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