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Aliases for ITM2A Gene

Aliases for ITM2A Gene

  • Integral Membrane Protein 2A 2 3 5
  • BRICHOS Domain Containing 2A 2 3
  • Protein E25 4
  • BRICD2A 3
  • E25A 3

External Ids for ITM2A Gene

Previous GeneCards Identifiers for ITM2A Gene

  • GC0XM074161
  • GC0XM075577
  • GC0XM076657
  • GC0XM077371
  • GC0XM078422
  • GC0XM078615
  • GC0XM072195

Summaries for ITM2A Gene

Entrez Gene Summary for ITM2A Gene

  • 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]

GeneCards Summary for ITM2A Gene

ITM2A (Integral Membrane Protein 2A) is a Protein Coding gene. An important paralog of this gene is ITM2C.

Gene Wiki entry for ITM2A Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITM2A Gene

Genomics for ITM2A Gene

Regulatory Elements for ITM2A Gene

Promoters for ITM2A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ITM2A on UCSC Golden Path with GeneCards custom track

Genomic Location for ITM2A Gene

Chromosome:
X
Start:
79,360,384 bp from pter
End:
79,367,667 bp from pter
Size:
7,284 bases
Orientation:
Minus strand

Genomic View for ITM2A Gene

Genes around ITM2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITM2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITM2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITM2A Gene

Proteins for ITM2A Gene

  • Protein details for ITM2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43736-ITM2A_HUMAN
    Recommended name:
    Integral membrane protein 2A
    Protein Accession:
    O43736
    Secondary Accessions:
    • B2R7X5
    • B4E062
    • Q6IBC9

    Protein attributes for ITM2A Gene

    Size:
    263 amino acids
    Molecular mass:
    29741 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ITM2A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ITM2A Gene

Proteomics data for ITM2A Gene at MOPED

Post-translational modifications for ITM2A Gene

  • Ubiquitination at Lys 3, Lys 14, and Lys 37
  • Glycosylation at Asn 166
  • Modification sites at PhosphoSitePlus

Other Protein References for ITM2A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ITM2A Gene

Domains & Families for ITM2A Gene

Gene Families for ITM2A Gene

Protein Domains for ITM2A Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ITM2A Gene

Graphical View of Domain Structure for InterPro Entry

O43736

UniProtKB/Swiss-Prot:

ITM2A_HUMAN :
  • Contains 1 BRICHOS domain.
  • Belongs to the ITM2 family.
Domain:
  • Contains 1 BRICHOS domain.
Family:
  • Belongs to the ITM2 family.
genes like me logo Genes that share domains with ITM2A: view

Function for ITM2A Gene

Molecular function for ITM2A Gene

GENATLAS Biochemistry:
integral membrane protein,type 2,involved in osteo and chondrogenic differentiation,involved in transcriptional regulation of cartilage or bone specific gene

Gene Ontology (GO) - Molecular Function for ITM2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15983050
genes like me logo Genes that share ontologies with ITM2A: view
genes like me logo Genes that share phenotypes with ITM2A: view

Animal Models for ITM2A Gene

MGI Knock Outs for ITM2A:

Animal Model Products

  • Taconic Biosciences Mouse Models for ITM2A

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ITM2A Gene

Localization for ITM2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITM2A Gene

Membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ITM2A Gene COMPARTMENTS Subcellular localization image for ITM2A gene
Compartment Confidence
cytosol 3
plasma membrane 2
golgi apparatus 1

No data available for Gene Ontology (GO) - Cellular Components for ITM2A Gene

Pathways & Interactions for ITM2A Gene

SuperPathways for ITM2A Gene

No Data Available

Interacting Proteins for ITM2A Gene

Gene Ontology (GO) - Biological Process for ITM2A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ITM2A Gene

Drugs & Compounds for ITM2A Gene

No Compound Related Data Available

Transcripts for ITM2A Gene

Unigene Clusters for ITM2A Gene

Integral membrane protein 2A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ITM2A Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b
SP1: - - -
SP2: -
SP3: - - - -
SP4: - - - - -
SP5: - - - - - - - -
SP6: - - - - - -
SP7: -

Relevant External Links for ITM2A Gene

GeneLoc Exon Structure for
ITM2A
ECgene alternative splicing isoforms for
ITM2A

Expression for ITM2A Gene

mRNA expression in normal human tissues for ITM2A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ITM2A Gene



SOURCE GeneReport for Unigene cluster for ITM2A Gene Hs.17109

genes like me logo Genes that share expression patterns with ITM2A: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for ITM2A Gene

Orthologs for ITM2A Gene

This gene was present in the common ancestor of animals.

Orthologs for ITM2A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ITM2A 35
  • 99.49 (n)
  • 100 (a)
ITM2A 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ITM2A 36
  • 76 (a)
OneToOne
ITM2A 35
  • 87.1 (n)
  • 85 (a)
mouse
(Mus musculus)
Mammalia Itm2a 36
  • 95 (a)
OneToOne
Itm2a 16
Itm2a 35
  • 89.61 (n)
  • 95.06 (a)
oppossum
(Monodelphis domestica)
Mammalia ITM2A 36
  • 46 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ITM2A 36
  • 60 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Itm2a 35
  • 88.59 (n)
  • 93.92 (a)
chicken
(Gallus gallus)
Aves ITM2A 36
  • 59 (a)
OneToOne
ITM2A 35
  • 69.72 (n)
  • 66.14 (a)
lizard
(Anolis carolinensis)
Reptilia ITM2A 36
  • 54 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.24778 35
tropical clawed frog
(Silurana tropicalis)
Amphibia itm2a 35
  • 62.74 (n)
  • 62.2 (a)
Str.6142 35
fruit fly
(Drosophila melanogaster)
Insecta CG3662 36
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C25F6.7 36
  • 16 (a)
OneToMany
Species with no ortholog for ITM2A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for ITM2A Gene

ENSEMBL:
Gene Tree for ITM2A (if available)
TreeFam:
Gene Tree for ITM2A (if available)

Paralogs for ITM2A Gene

Paralogs for ITM2A Gene

(2) SIMAP similar genes for ITM2A Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ITM2A: view

Variants for ITM2A Gene

Sequence variations from dbSNP and Humsavar for ITM2A Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs35056863 - 79,363,451(-) TGGAG(C/T)CTGCA intron-variant, reference, missense
rs35629312 - 79,361,343(-) TCGCA(C/G)AGACC reference, missense
rs13789 -- 79,360,717(-) TGGTG(C/G)AGCAA utr-variant-3-prime
rs14518 -- 79,361,170(-) TTCAA(A/C)AAACG reference, missense
rs1751094 -- 79,360,853(-) CTTTG(A/C)ATTTA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ITM2A Gene

Variant ID Type Subtype PubMed ID
nsv519126 CNV Gain 19592680

Variation tolerance for ITM2A Gene

Residual Variation Intolerance Score: 59.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.24; 24.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ITM2A Gene

HapMap Linkage Disequilibrium report
ITM2A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITM2A Gene

Disorders for ITM2A Gene

Relevant External Links for ITM2A

Genetic Association Database (GAD)
ITM2A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ITM2A

No disorders were found for ITM2A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ITM2A Gene

Publications for ITM2A Gene

  1. Many sequence variants affecting diversity of adult human height. (PMID: 18391951) Gudbjartsson D.F. … Stefansson K. (Nat. Genet. 2008) 3 48 67
  2. Genomic organization and chromosomal localization of the Itm2a gene. (PMID: 9892734) Pittois K. … Merregaert J. (Mamm. Genome 1999) 2 3
  3. Isolation of markers for chondro-osteogenic differentiation using cDNA library subtraction. Molecular cloning and characterization of a gene belonging to a novel multigene family of integral membrane proteins. (PMID: 8702637) Deleersnijder W. … Merregaert J. (J. Biol. Chem. 1996) 2 3
  4. The central role of EED in the orchestration of polycomb group complexes. (PMID: 24457600) Cao Q. … Chinnaiyan A.M. (Nat Commun 2014) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for ITM2A Gene

Sources for ITM2A Gene

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