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] See more...

Aliases for ITM2A Gene

Aliases for ITM2A Gene

  • Integral Membrane Protein 2A 2 3 4 5
  • BRICHOS Domain Containing 2A 2 3
  • BRICD2A 2 3
  • E25A 2 3
  • Protein E25 4
  • ITM2A 5

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. Diseases associated with ITM2A include Cleft Palate With Or Without Ankyloglossia, X-Linked and Ankyloglossia With Or Without Tooth Anomalies. An important paralog of this gene is ITM2B.

Gene Wiki entry for ITM2A Gene

Additional gene information for ITM2A Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ITM2A Gene

Genomics for ITM2A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ITM2A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ079365 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 621.6 +1.9 1914 5.9 MTA2 REST DPF2 HDAC1 SOX6 PKNOX1 GATAD2B TCF12 EP300 SOX13 ITM2A lnc-ITM2A-1 piR-51006-019 GPR174
GH0XJ078942 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 13.8 +420.8 420794 8.9 POLR2A STAT3 RELA IKZF2 PKNOX1 EED SIN3A ARID3A RAD21 DPF2 P2RY10 ITM2A TAF9B piR-46847-295 GPR174
GH0XJ079142 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 15.9 +217.0 216951 15.5 ZNF512 PRDM1 RELA IKZF2 TRIM22 SCRT2 EED YBX1 POLR2A ARID3A ITM2A P2RY10 GPR174 RTL3 LPAR4 lnc-P2RY10-1 CTHRC1P1 lnc-ITM2A-3
GH0XJ079106 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 15.1 +259.3 259252 3.8 RELA IKZF2 ARID3A RELB RUNX3 BCL11A ELF1 NBN IKZF1 NR2F1 lnc-GPR174-2 ITM2A GPR174 P2RY10 LPAR4
GH0XJ079159 Promoter/Enhancer 1.2 Ensembl ENCODE dbSUPER 13.7 +203.4 203414 9 IKZF2 YY1 PKNOX1 ARID3A DPF2 RUNX3 CBFB ARNT NBN JUNB ITM2A RTL3 LPAR4 CTHRC1P1 lnc-ITM2A-3 lnc-P2RY10-1 GPR174
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ITM2A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ITM2A

Top Transcription factor binding sites by QIAGEN in the ITM2A gene promoter:
  • FOXJ2
  • FOXJ2 (long isoform)
  • FOXO4
  • GATA-1
  • GATA-2
  • GATA-3
  • Zic3

Genomic Locations for ITM2A Gene

Genomic Locations for ITM2A Gene
chrX:79,360,384-79,367,667
(GRCh38/hg38)
Size:
7,284 bases
Orientation:
Minus strand
chrX:78,615,881-78,623,164
(GRCh37/hg19)
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

Post-translational modifications for ITM2A Gene

  • Glycosylation at Asn166
  • Ubiquitination at Lys3, Lys14, and Lys37
  • 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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ITM2A Gene

InterPro:
Blocks:
  • BRICHOS domain
ProtoNet:

Suggested Antigen Peptide Sequences for ITM2A Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50935, highly similar to Integral membrane protein 2A (B4E062_HUMAN)
  • Protein E25 (ITM2A_HUMAN)
  • ITM2A protein (Q6IBC9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43736

UniProtKB/Swiss-Prot:

ITM2A_HUMAN :
  • Belongs to the ITM2 family.
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

Phenotypes From GWAS Catalog for ITM2A Gene

Gene Ontology (GO) - Molecular Function for ITM2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 amyloid-beta binding IBA 21873635
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ITM2A gene
Compartment Confidence
plasma membrane 4
cytosol 3
golgi apparatus 3
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ITM2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IBA 21873635
GO:0005886 plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ITM2A: view

Pathways & Interactions for ITM2A Gene

PathCards logo

SuperPathways for ITM2A Gene

No Data Available

Gene Ontology (GO) - Biological Process for ITM2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002317 plasma cell differentiation IEA --
GO:0002377 immunoglobulin production IEA --
GO:0042985 negative regulation of amyloid precursor protein biosynthetic process IBA 21873635
genes like me logo Genes that share ontologies with ITM2A: view

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

mRNA/cDNA for ITM2A Gene

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ITM2A

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

Expression for ITM2A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for ITM2A Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ITM2A

SOURCE GeneReport for Unigene cluster for ITM2A Gene:

Hs.17109

Evidence on tissue expression from TISSUES for ITM2A Gene

  • Nervous system(5)
  • Blood(4.5)
  • Pancreas(4.5)
  • Lung(3)
  • Bone(2.8)
  • Muscle(2.6)
  • Heart(2.5)
  • Thyroid gland(2.4)
  • Lymph node(2.4)
  • Liver(2.3)
  • Bone marrow(2.1)
  • Eye(2.1)
genes like me logo Genes that share expression patterns with ITM2A: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30 31
  • 99.49 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Itm2a 30 17 31
  • 89.61 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Itm2a 30
  • 88.59 (n)
Cow
(Bos Taurus)
Mammalia ITM2A 30 31
  • 87.1 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ITM2A 31
  • 60 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ITM2A 31
  • 46 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ITM2A 30 31
  • 69.72 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ITM2A 31
  • 54 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia itm2a 30
  • 62.74 (n)
Str.6142 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.24778 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG3662 31
  • 17 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea C25F6.7 31
  • 16 (a)
OneToMany
Species where no ortholog for ITM2A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for ITM2A: view image

Paralogs for ITM2A Gene

Paralogs for ITM2A Gene

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

  • ITM2A_HUMAN
  • Q6IBC9_HUMAN
genes like me logo Genes that share paralogs with ITM2A: view

Variants for ITM2A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ITM2A Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
714929 Benign: not provided 79,362,701(-) A/G INTRON_VARIANT
769489 Benign: not provided 79,361,426(-) C/T SYNONYMOUS_VARIANT
rs35056863 - p.Ala72Val
rs35629312 - p.Arg230Thr

Additional dbSNP identifiers (rs#s) for ITM2A Gene

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)

Additional Variant Information for ITM2A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITM2A

SNP Genotyping and Copy Number Assay Products

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

Disorders for ITM2A Gene

MalaCards: The human disease database

(3) MalaCards diseases for ITM2A Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search ITM2A in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ITM2A

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

No data available for 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 DF … Stefansson K (Nature genetics 2008) 3 41
  2. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4
  5. Genomic organization and chromosomal localization of the Itm2a gene. (PMID: 9892734) Pittois K … Merregaert J (Mammalian genome : official journal of the International Mammalian Genome Society 1999) 2 3

Products for ITM2A Gene

Sources for ITM2A Gene