Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes an I-domain-containing alpha integrin that undergoes post-translational cleavage in the extracellular domain, yielding disulfide-linked heavy and light chains. In combination with the beta 7 integrin, this protein forms the E-cadherin binding integrin known as t... See more...

Aliases for ITGAE Gene

Aliases for ITGAE Gene

  • Integrin Subunit Alpha E 2 3 5
  • Integrin, Alpha E (Antigen CD103, Human Mucosal Lymphocyte Antigen 1; Alpha Polypeptide) 2 3
  • Human Mucosal Lymphocyte Antigen 1, Alpha Polypeptide 2 3
  • Mucosal Lymphocyte 1 Antigen 3 4
  • Integrin Alpha-IEL 3 4
  • Integrin Alpha-E 3 4
  • HML-1 Antigen 3 4
  • HUMINAE 2 3
  • CD103 2 3
  • Antigen CD103, Human Mucosal Lymphocyte Antigen 1; Alpha Polypeptide 3
  • Antigen CD103 2
  • CD103 Antigen 4
  • ITGAE 5

External Ids for ITGAE Gene

Previous GeneCards Identifiers for ITGAE Gene

  • GC17M003930
  • GC17M003960
  • GC17M003568
  • GC17M003824
  • GC17M003564
  • GC17M003513
  • GC17M003617

Summaries for ITGAE Gene

Entrez Gene Summary for ITGAE Gene

  • Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes an I-domain-containing alpha integrin that undergoes post-translational cleavage in the extracellular domain, yielding disulfide-linked heavy and light chains. In combination with the beta 7 integrin, this protein forms the E-cadherin binding integrin known as the human mucosal lymphocyte-1 antigen. This protein is preferentially expressed in human intestinal intraepithelial lymphocytes (IEL), and in addition to a role in adhesion, it may serve as an accessory molecule for IEL activation. [provided by RefSeq, Jul 2008]

GeneCards Summary for ITGAE Gene

ITGAE (Integrin Subunit Alpha E) is a Protein Coding gene. Diseases associated with ITGAE include Hairy Cell Leukemia and Splenic Marginal Zone Lymphoma. Among its related pathways are Integrin Pathway and Degradation of the extracellular matrix. An important paralog of this gene is ITGAD.

UniProtKB/Swiss-Prot Summary for ITGAE Gene

  • Integrin alpha-E/beta-7 is a receptor for E-cadherin. It mediates adhesion of intra-epithelial T-lymphocytes to epithelial cell monolayers.

Gene Wiki entry for ITGAE Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ITGAE Gene

Genomics for ITGAE Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ITGAE Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the ITGAE gene promoter:
  • AML1a
  • MZF-1
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • PPAR-gamma1
  • PPAR-gamma2
  • RFX1

Genomic Locations for ITGAE Gene

Latest Assembly
chr17:3,714,628-3,803,766
(GRCh38/hg38)
Size:
89,139 bases
Orientation:
Minus strand

Previous Assembly
chr17:3,617,922-3,704,482
(GRCh37/hg19 by Entrez Gene)
Size:
86,561 bases
Orientation:
Minus strand

chr17:3,617,922-3,704,537
(GRCh37/hg19 by Ensembl)
Size:
86,616 bases
Orientation:
Minus strand

Genomic View for ITGAE Gene

Genes around ITGAE on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ITGAE Gene

Proteins for ITGAE Gene

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

    Protein Symbol:
    P38570-ITAE_HUMAN
    Recommended name:
    Integrin alpha-E
    Protein Accession:
    P38570
    Secondary Accessions:
    • Q17RS6
    • Q9NZU9

    Protein attributes for ITGAE Gene

    Size:
    1179 amino acids
    Molecular mass:
    130159 Da
    Quaternary structure:
    • Heterodimer of an alpha and a beta subunit. The alpha subunit is composed of a heavy and a light chains linked by a disulfide bond. Alpha-E associates with beta-7.

neXtProt entry for ITGAE Gene

Post-translational modifications for ITGAE Gene

  • Glycosylation at Asn49, Asn271, Asn321, Asn444, Asn726, Asn782, Asn857, Asn934, Asn954, Asn1065, and Asn1096
  • Modification sites at PhosphoSitePlus

Antibodies for research

No data available for DME Specific Peptides for ITGAE Gene

Domains & Families for ITGAE Gene

Gene Families for ITGAE Gene

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

Protein Domains for ITGAE Gene

InterPro:
Blocks:
  • Von Willebrand factor type A domain signature
  • Integrins alpha chain
  • Integrin alpha chain, C-terminal cytoplasmic region
  • FG-GAP

Suggested Antigen Peptide Sequences for ITGAE Gene

GenScript: Design optimal peptide antigens:
  • Mucosal lymphocyte 1 antigen (ITAE_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P38570

UniProtKB/Swiss-Prot:

ITAE_HUMAN :
  • The integrin I-domain (insert) is a VWFA domain. Integrins with I-domains do not undergo protease cleavage.
  • Belongs to the integrin alpha chain family.
Domain:
  • The integrin I-domain (insert) is a VWFA domain. Integrins with I-domains do not undergo protease cleavage.
Family:
  • Belongs to the integrin alpha chain family.
genes like me logo Genes that share domains with ITGAE: view

Function for ITGAE Gene

Molecular function for ITGAE Gene

UniProtKB/Swiss-Prot Function:
Integrin alpha-E/beta-7 is a receptor for E-cadherin. It mediates adhesion of intra-epithelial T-lymphocytes to epithelial cell monolayers.
UniProtKB/Swiss-Prot Induction:
Integrin alpha-E/beta-7 is induced by TGFB1.

Phenotypes From GWAS Catalog for ITGAE Gene

Gene Ontology (GO) - Molecular Function for ITGAE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ITGAE: view
genes like me logo Genes that share phenotypes with ITGAE: view

Animal Models for ITGAE Gene

MGI Knock Outs for ITGAE:
  • Itgae Itgae<tm1b(EUCOMM)Wtsi>
  • Itgae Itgae<tm1Cmp>

Inhibitory RNAs for research

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

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

Localization for ITGAE Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITGAE Gene

Membrane. Single-pass type I 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 ITGAE gene
Compartment Confidence
plasma membrane 5
extracellular 3
nucleus 3
endoplasmic reticulum 3
cytoskeleton 2
mitochondrion 2
endosome 2
cytosol 2
lysosome 2
golgi apparatus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for ITGAE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0008305 integrin complex TAS,IEA --
GO:0009897 external side of plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ITGAE: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ITGAE Gene

Pathways & Interactions for ITGAE Gene

PathCards logo

SuperPathways for ITGAE Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
.66
.65
.64
.62
.57
2 ERK Signaling
.61
.61
.58
.51
.49
3 Integrin Pathway
.67
.67
.56
.56
.38
4 Actin Nucleation by ARP-WASP Complex
.66
.66
.41
.35
5 Focal Adhesion
.33
genes like me logo Genes that share pathways with ITGAE: view

Pathways by source for ITGAE Gene

1 KEGG pathway for ITGAE Gene
34 Qiagen pathways for ITGAE Gene
  • Actin Nucleation and Branching
  • Actin Nucleation by ARP-WASP Complex
  • Actin-Based Motility by Rho Family GTPases
  • Akt Signaling
  • Calpain Protease Regulates Cellular Mechanics

Gene Ontology (GO) - Biological Process for ITGAE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007229 integrin-mediated signaling pathway IEA --
GO:0030198 extracellular matrix organization TAS --
genes like me logo Genes that share ontologies with ITGAE: view

No data available for SIGNOR curated interactions for ITGAE Gene

Drugs & Compounds for ITGAE Gene

(1) Drugs for ITGAE Gene - From: ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
RGD (Arg-Gly-Asp) Peptides Pharma Inhibits integrin binding to RGD motifs 0

(1) Additional Compounds for ITGAE Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for ITGAE Gene

Compound Action Cas Number
RGD (Arg-Gly-Asp) Peptides Inhibits integrin binding to RGD motifs 99896-85-2
genes like me logo Genes that share compounds with ITGAE: view

Drug products for research

Transcripts for ITGAE Gene

mRNA/cDNA for ITGAE Gene

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

Inhibitory RNAs for research

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

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

No ASD Table

Relevant External Links for ITGAE Gene

GeneLoc Exon Structure for
ITGAE

Expression for ITGAE Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ITGAE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ITGAE Gene

This gene is overexpressed in Liver (63.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ITGAE Gene



Protein tissue co-expression partners for ITGAE Gene

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

SOURCE GeneReport for Unigene cluster for ITGAE Gene:

Hs.513867

mRNA Expression by UniProt/SwissProt for ITGAE Gene:

P38570-ITAE_HUMAN
Tissue specificity: Expressed on a subclass of T-lymphocytes known as intra-epithelial lymphocytes which are located between mucosal epithelial cells.

Evidence on tissue expression from TISSUES for ITGAE Gene

  • Blood(4.6)
  • Lymph node(3.6)
  • Spleen(3.6)
  • Intestine(3.3)
  • Bone marrow(3.1)
  • Lung(2.9)
  • Skin(2.8)
  • Heart(2.6)
  • Nervous system(2.6)
  • Kidney(2.6)
  • Liver(2.6)
  • Muscle(2.4)
  • Stomach(2.4)
  • Pancreas(2.2)
  • Eye(2)
genes like me logo Genes that share expression patterns with ITGAE: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ITGAE Gene

Orthologs for ITGAE Gene

This gene was present in the common ancestor of chordates.

Orthologs for ITGAE Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ITGAE 29 30
  • 98.75 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ITGAE 29 30
  • 82.39 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ITGAE 29 30
  • 79.69 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Itgae 29 16 30
  • 78.81 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Itgae 29
  • 78.35 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia ITGAE 30
  • 49 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ITGAE 30
  • 48 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 24 (a)
ManyToMany
Zebrafish
(Danio rerio)
Actinopterygii LOC100536705 29
  • 48.06 (n)
ITGAE (1 of 2) 30
  • 28 (a)
OneToMany
ITGAE (2 of 2) 30
  • 24 (a)
OneToMany
Species where no ortholog for ITGAE was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ITGAE Gene

ENSEMBL:
Gene Tree for ITGAE (if available)
TreeFam:
Gene Tree for ITGAE (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ITGAE: view image
Alliance of Genome Resources:
Additional Orthologs for ITGAE

Paralogs for ITGAE Gene

Pseudogenes.org Pseudogenes for ITGAE Gene

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

Variants for ITGAE Gene

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

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs3830684 Benign: not provided 3,761,183(-) A/AATT
NM_002208.5(ITGAE):c.434-7_434-6insTAA
INTRON
rs1716 -- p.Arg950Trp
rs220479 -- p.Ile477Val
rs2272606 -- p.Arg482Gln
rs2976230 -- p.Val1019Ala

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ITGAE Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv1004185 CNV insertion 20482838
esv1749908 CNV insertion 17803354
esv24017 CNV loss 19812545
esv2761940 CNV gain 21179565
esv3639754 CNV loss 21293372
esv3892952 CNV loss 25118596
esv996976 CNV deletion 20482838
nsv1055740 CNV gain 25217958
nsv1065489 CNV gain 25217958
nsv1071327 CNV deletion 25765185
nsv1109044 CNV deletion 24896259
nsv1116181 CNV deletion 24896259
nsv1948 CNV deletion 18451855
nsv1949 CNV insertion 18451855
nsv469791 CNV loss 16826518
nsv574237 CNV loss 21841781
nsv833342 CNV loss 17160897

Variation tolerance for ITGAE Gene

Residual Variation Intolerance Score: 79.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.02; 87.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ITGAE Gene

Human Gene Mutation Database (HGMD)
ITGAE
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITGAE
Leiden Open Variation Database (LOVD)
ITGAE

SNP Genotyping and Copy Number Assays for research

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

Disorders for ITGAE Gene

MalaCards: The human disease database

(17) MalaCards diseases for ITGAE Gene - From: COP and GCD

Disorder Aliases PubMed IDs
hairy cell leukemia
  • hcl-v
splenic marginal zone lymphoma
  • smzl
sarcoid meningitis
  • meningitis in sarcoidosis
mycosis fungoides
  • mycosis fungoides lymphoma
enteropathy-associated t-cell lymphoma
  • eatcl
- elite association - COSMIC cancer census association via MalaCards
Search ITGAE in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ITGAE

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ITGAE: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ITGAE Gene

Publications for ITGAE Gene

  1. Molecular cloning of the human mucosal lymphocyte integrin alpha E subunit. Unusual structure and restricted RNA distribution. (PMID: 8119947) Shaw SK … Parker CM (The Journal of biological chemistry 1994) 2 3 4 22
  2. A family of beta 7 integrins on human mucosal lymphocytes. (PMID: 1542691) Parker CM … Brenner MB (Proceedings of the National Academy of Sciences of the United States of America 1992) 3 4 22
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  4. Dengue hemorrhagic fever is associated with polymorphisms in JAK1. (PMID: 20588308) Silva LK … Teixeira MG (European journal of human genetics : EJHG 2010) 3 40
  5. Disease association of the CD103 polymorphisms in Taiwan Chinese Graves' ophthalmopathy patients. (PMID: 20417566) Liu YH … Tsai FJ (Ophthalmology 2010) 3 40

Products for ITGAE Gene

Sources for ITGAE Gene