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Aliases for ITGB7 Gene

Aliases for ITGB7 Gene

  • Integrin Subunit Beta 7 2 3 5
  • Gut Homing Receptor Beta Subunit 4
  • Integrin, Beta 7 2

External Ids for ITGB7 Gene

Previous GeneCards Identifiers for ITGB7 Gene

  • GC12M053680
  • GC12M053498
  • GC12M053301
  • GC12M051871
  • GC12M053585
  • GC12M050628

Summaries for ITGB7 Gene

Entrez Gene Summary for ITGB7 Gene

  • This gene encodes a protein that is a member of the integrin superfamily. Members of this family are adhesion receptors that function in signaling from the extracellular matrix to the cell. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. The encoded protein forms dimers with an alpha4 chain or an alphaE chain and plays a role in leukocyte adhesion. Dimerization with alpha4 forms a homing receptor for migration of lymphocytes to the intestinal mucosa and Peyer's patches. Dimerization with alphaE permits binding to the ligand epithelial cadherin, a calcium-dependent adhesion molecule. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]

GeneCards Summary for ITGB7 Gene

ITGB7 (Integrin Subunit Beta 7) is a Protein Coding gene. Diseases associated with ITGB7 include Exfoliative Ichthyosis and Peach Allergy. Among its related pathways are GPCR Pathway and MAPK-Erk Pathway. GO annotations related to this gene include receptor activity and virus receptor activity. An important paralog of this gene is ITGB2.

UniProtKB/Swiss-Prot for ITGB7 Gene

  • Integrin alpha-4/beta-7 (Peyer patches-specific homing receptor LPAM-1) is an adhesion molecule that mediates lymphocyte migration and homing to gut-associated lymphoid tissue (GALT). Integrin alpha-4/beta-7 interacts with the cell surface adhesion molecules MADCAM1 which is normally expressed by the vascular endothelium of the gastrointestinal tract. Interacts also with VCAM1 and fibronectin, an extracellular matrix component. It recognizes one or more domains within the alternatively spliced CS-1 region of fibronectin. Interactions involves the tripeptide L-D-T in MADCAM1, and L-D-V in fibronectin. Binds to HIV-1 gp120, thereby allowing the virus to enter GALT, which is thought to be the major trigger of AIDS disease. Interaction would involve a tripeptide L-D-I in HIV-1 gp120. Integrin alpha-E/beta-7 (HML-1) is a receptor for E-cadherin.

Gene Wiki entry for ITGB7 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITGB7 Gene

Genomics for ITGB7 Gene

Regulatory Elements for ITGB7 Gene

Enhancers for ITGB7 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G053060 1.6 Ensembl ENCODE dbSUPER 10.9 +140.4 140382 13.5 HDGF PKNOX1 FOXA2 MLX AGO1 ARID4B SIN3A YBX1 DMAP1 ZNF2 PFDN5 AAAS LOC283335 LOC100652999 IGFBP6 SOAT2 ZNF740 ITGB7 RNU6-333P ESPL1
GH12G053294 1.4 ENCODE dbSUPER 11.2 -90.4 -90370 6.5 CREB3L1 AGO1 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 TBX21 MEF2D ESPL1 AAAS MAP3K12 ATP5G2 ZNF740 MFSD5 ITGB7 SOAT2 AMHR2 IGFBP6
GH12G053320 1.2 ENCODE 10.8 -114.1 -114078 2.3 CREB3L1 FEZF1 DMAP1 YBX1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 ESPL1 AAAS MAP3K12 C12orf10 PFDN5 SP7 CBX5 RARG AMHR2 ITGB7
GH12G053289 0.8 dbSUPER 11.6 -82.9 -82889 2.3 PKNOX1 ZBTB21 ZFP64 ZNF101 ZNF697 NFE2 ZNF433 ZNF654 ZNF680 ZBTB11 ESPL1 AAAS MAP3K12 ITGB7 MFSD5 CBX5 RNU6-333P SOAT2 IGFBP6 AMHR2
GH12G053287 0.7 ENCODE 11.2 -80.6 -80572 0.2 HDGF CTCF PKNOX1 MXI1 ARNT WRNIP1 SIN3A RAD21 POLR2A ZNF143 ESPL1 MFSD5 ITGB7 ZNF740 CSAD SOAT2 IGFBP6 PFDN5
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ITGB7 on UCSC Golden Path with GeneCards custom track

Genomic Location for ITGB7 Gene

Chromosome:
12
Start:
53,191,318 bp from pter
End:
53,207,310 bp from pter
Size:
15,993 bases
Orientation:
Minus strand

Genomic View for ITGB7 Gene

Genes around ITGB7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITGB7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITGB7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITGB7 Gene

Proteins for ITGB7 Gene

  • Protein details for ITGB7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P26010-ITB7_HUMAN
    Recommended name:
    Integrin beta-7
    Protein Accession:
    P26010
    Secondary Accessions:
    • Q9UCP7
    • Q9UCS7

    Protein attributes for ITGB7 Gene

    Size:
    798 amino acids
    Molecular mass:
    86903 Da
    Quaternary structure:
    • Heterodimer of an alpha and a beta subunit. Beta-7 associates with either alpha-4 or alpha-E. Integrin alpha-4/beta-7 interacts with MADCAM1, VCAM1, fibronectin, and may also interact with HIV-1 gp120. Interacts with FLNA (via filamin repeats 4, 9, 12, 17, 19, 21, and 23) (PubMed:19828450).

    Three dimensional structures from OCA and Proteopedia for ITGB7 Gene

    Alternative splice isoforms for ITGB7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ITGB7 Gene

Post-translational modifications for ITGB7 Gene

  • Glycosylation at isoforms=268, isoforms=2279, isoforms=2434, isoforms=2477, posLast=531531, posLast=590590, posLast=665665, and posLast=674674
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for ITGB7 (Integrin beta 7)

No data available for DME Specific Peptides for ITGB7 Gene

Domains & Families for ITGB7 Gene

Gene Families for ITGB7 Gene

Suggested Antigen Peptide Sequences for ITGB7 Gene

Graphical View of Domain Structure for InterPro Entry

P26010

UniProtKB/Swiss-Prot:

ITB7_HUMAN :
  • Domain I contains three cation-binding sites: the ligand-integrin-binding site (LIMBS), the metal ion-dependent adhesion site (MIDAS), and the adjacent to MIDAS site (ADMIDAS). In the absence of a ligand or in calcium-dependent binding, only ADMIDAS is occupied. In magnesium-dependent binding all three sites bind metal ions. LIMBS positively modify ligand binding whereas ADMIDAS negatively modify ligand binding.
  • Belongs to the integrin beta chain family.
Domain:
  • Domain I contains three cation-binding sites: the ligand-integrin-binding site (LIMBS), the metal ion-dependent adhesion site (MIDAS), and the adjacent to MIDAS site (ADMIDAS). In the absence of a ligand or in calcium-dependent binding, only ADMIDAS is occupied. In magnesium-dependent binding all three sites bind metal ions. LIMBS positively modify ligand binding whereas ADMIDAS negatively modify ligand binding.
Family:
  • Belongs to the integrin beta chain family.
genes like me logo Genes that share domains with ITGB7: view

Function for ITGB7 Gene

Molecular function for ITGB7 Gene

GENATLAS Biochemistry:
integrin,beta 7,cell surface adhesion receptor mediating cell-adhesion to extra cellular matrix or to other cells,through hetero dimerization and connecting to the cytoskeleton and various signaling molecules within cells
UniProtKB/Swiss-Prot Function:
Integrin alpha-4/beta-7 (Peyer patches-specific homing receptor LPAM-1) is an adhesion molecule that mediates lymphocyte migration and homing to gut-associated lymphoid tissue (GALT). Integrin alpha-4/beta-7 interacts with the cell surface adhesion molecules MADCAM1 which is normally expressed by the vascular endothelium of the gastrointestinal tract. Interacts also with VCAM1 and fibronectin, an extracellular matrix component. It recognizes one or more domains within the alternatively spliced CS-1 region of fibronectin. Interactions involves the tripeptide L-D-T in MADCAM1, and L-D-V in fibronectin. Binds to HIV-1 gp120, thereby allowing the virus to enter GALT, which is thought to be the major trigger of AIDS disease. Interaction would involve a tripeptide L-D-I in HIV-1 gp120. Integrin alpha-E/beta-7 (HML-1) is a receptor for E-cadherin.
UniProtKB/Swiss-Prot Induction:
Integrin alpha-E/beta-7 is induced by TGFB1.

Gene Ontology (GO) - Molecular Function for ITGB7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001618 virus receptor activity IEA --
GO:0004872 receptor activity IEA --
GO:0005515 protein binding IPI 1542691
GO:0046872 metal ion binding IEA --
GO:0050839 cell adhesion molecule binding IMP 23986478
genes like me logo Genes that share ontologies with ITGB7: view
genes like me logo Genes that share phenotypes with ITGB7: view

Animal Models for ITGB7 Gene

MGI Knock Outs for ITGB7:

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for ITGB7 Gene

Localization for ITGB7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITGB7 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 ITGB7 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ITGB7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0008305 integrin complex TAS,IEA 2040616
GO:0009986 cell surface IDA 18308860
GO:0016020 membrane IEA,IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ITGB7: view

Pathways & Interactions for ITGB7 Gene

genes like me logo Genes that share pathways with ITGB7: view

SIGNOR curated interactions for ITGB7 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ITGB7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003366 cell-matrix adhesion involved in ameboidal cell migration IMP 23986478
GO:0007155 cell adhesion TAS,IEA 2040616
GO:0007160 cell-matrix adhesion IEA,IMP 18308860
GO:0007229 integrin-mediated signaling pathway IEA,IMP 23986478
GO:0030198 extracellular matrix organization TAS --
genes like me logo Genes that share ontologies with ITGB7: view

Drugs & Compounds for ITGB7 Gene

(10) Drugs for ITGB7 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vedolizumab Approved Pharma Target, antibody 58
R1295 Investigational Pharma antagonist, Target 0
MLN-02 Investigational Pharma Target 0
Firategrast Pharma α4β1/α4β7 integrin antagonist 0
TR-14035 Pharma α4β7 and α4β1 integrins antagonist 0

(1) Additional Compounds for ITGB7 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(2) ApexBio Compounds for ITGB7 Gene

Compound Action Cas Number
Firategrast α4β1/α4β7 integrin antagonist 402567-16-2
TR-14035 α4β7 and α4β1 integrins antagonist 232271-19-1
genes like me logo Genes that share compounds with ITGB7: view

Drug Products

Transcripts for ITGB7 Gene

Unigene Clusters for ITGB7 Gene

Integrin, beta 7:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ITGB7 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^
SP1: - - - -
SP2: - - - - -
SP3: - - -
SP4: - -
SP5: - -
SP6:
SP7:

ExUns: 16
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for ITGB7 Gene

GeneLoc Exon Structure for
ITGB7
ECgene alternative splicing isoforms for
ITGB7

Expression for ITGB7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ITGB7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ITGB7 Gene

This gene is overexpressed in Whole Blood (x12.6) and Spleen (x4.9).

Protein differential expression in normal tissues from HIPED for ITGB7 Gene

This gene is overexpressed in Pancreas (23.1), Peripheral blood mononuclear cells (14.9), and CD8 Tcells (14.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ITGB7 Gene



Protein tissue co-expression partners for ITGB7 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ITGB7 Gene:

ITGB7

SOURCE GeneReport for Unigene cluster for ITGB7 Gene:

Hs.654470

mRNA Expression by UniProt/SwissProt for ITGB7 Gene:

P26010-ITB7_HUMAN
Tissue specificity: Expressed in a variety of leukocyte lines.

Evidence on tissue expression from TISSUES for ITGB7 Gene

  • Blood(4.6)
  • Intestine(4.5)
  • Spleen(3.5)
  • Lymph node(2.2)
genes like me logo Genes that share expression patterns with ITGB7: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ITGB7 Gene

Orthologs for ITGB7 Gene

This gene was present in the common ancestor of animals.

Orthologs for ITGB7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ITGB7 34 35
  • 99.54 (n)
cow
(Bos Taurus)
Mammalia ITGB7 34 35
  • 87.68 (n)
dog
(Canis familiaris)
Mammalia ITGB7 34 35
  • 86.93 (n)
rat
(Rattus norvegicus)
Mammalia Itgb7 34
  • 84.64 (n)
mouse
(Mus musculus)
Mammalia Itgb7 34 16 35
  • 84.46 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ITGB7 35
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ITGB7 35
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itgb7 34
  • 57.79 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC797491 34
  • 53.18 (n)
itgb7 35
  • 44 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta mys 36 35
  • 35 (a)
bgrInt-ngr 36
  • 30 (a)
worm
(Caenorhabditis elegans)
Secernentea pat-3 36 35
  • 37 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.871 35
  • 34 (a)
OneToMany
Species where no ortholog for ITGB7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 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)

Evolution for ITGB7 Gene

ENSEMBL:
Gene Tree for ITGB7 (if available)
TreeFam:
Gene Tree for ITGB7 (if available)

Paralogs for ITGB7 Gene

(7) SIMAP similar genes for ITGB7 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with ITGB7: view

Variants for ITGB7 Gene

Sequence variations from dbSNP and Humsavar for ITGB7 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000171571 -- 53,207,104(+) ACCCT(C/T)GGTAT intron-variant
rs1000271331 -- 53,209,356(+) GAAGG(A/C/T)GTGTG upstream-variant-2KB
rs1000596895 -- 53,196,917(+) GGACG(A/G)TGATG intron-variant
rs1001132570 -- 53,203,439(+) GGTCA(A/G)GAGTT intron-variant
rs1001444508 -- 53,190,984(+) TTCTC(C/T)ACAGA downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for ITGB7 Gene

Variant ID Type Subtype PubMed ID
dgv2644n54 CNV loss 21841781
dgv2645n54 CNV loss 21841781
dgv27n6 CNV deletion 16902084
nsv469404 CNV loss 19166990
nsv470295 CNV gain 18288195
nsv517066 CNV loss 19592680
nsv52501 CNV deletion 16902084
nsv52510 CNV deletion 16902084
nsv52860 CNV deletion 16902084
nsv558994 CNV loss 21841781
nsv832417 CNV gain 17160897

Variation tolerance for ITGB7 Gene

Residual Variation Intolerance Score: 6.43% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.81; 47.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ITGB7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITGB7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITGB7 Gene

Disorders for ITGB7 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ITGB7 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
exfoliative ichthyosis
  • autosomal recessive exfoliative ichthyosis
peach allergy
  • prunus persica fruit allergy
hiv-1
  • aids, slow progression to
ichthyosis bullosa of siemens
  • bullous type ichthyosis
- elite association - COSMIC cancer census association via MalaCards
Search ITGB7 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ITGB7

Genetic Association Database (GAD)
ITGB7
Human Genome Epidemiology (HuGE) Navigator
ITGB7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ITGB7
genes like me logo Genes that share disorders with ITGB7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ITGB7 Gene

Publications for ITGB7 Gene

  1. Complete amino acid sequence of an integrin beta subunit (beta 7) identified in leukocytes. (PMID: 2040616) Erle D.J. … Pytela R. (J. Biol. Chem. 1991) 2 3 4 22 64
  2. Single nucleotide polymorphism screening and association analysis--exclusion of integrin beta 7 and vitamin D receptor (chromosome 12q) as candidate genes for asthma. (PMID: 15663557) Vollmert C. … Wjst M. (Clin. Exp. Allergy 2004) 3 22 46 64
  3. The role of alpha and beta chains in ligand recognition by beta 7 integrins. (PMID: 10837471) Higgins J.M.G. … Brenner M.B. (J. Biol. Chem. 2000) 3 4 22 64
  4. The gene organization of the human beta 7 subunit, the common beta subunit of the leukocyte integrins HML-1 and LPAM-1. (PMID: 1382574) Jiang W.-M. … Krissansen G.W. (Int. Immunol. 1992) 3 4 22 64
  5. A family of beta 7 integrins on human mucosal lymphocytes. (PMID: 1542691) Parker C.M. … Brenner M.B. (Proc. Natl. Acad. Sci. U.S.A. 1992) 3 4 22 64

Products for ITGB7 Gene

Sources for ITGB7 Gene

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