ITGB7 integrin subunit beta 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ITGB7provided by HGNC
Official Full Name: integrin subunit beta 7provided by HGNC
Primary source: HGNC:HGNC:6162
See related: Ensembl:ENSG00000139626 MIM:147559; AllianceGenome:HGNC:6162
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
Summary: 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]
Expression: Broad expression in spleen (RPKM 15.4), lymph node (RPKM 15.4) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.13

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (53191323..53207251, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (53156921..53172850, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (53585107..53601035, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cryo-EM structure of I domain-containing integrin alphaEbeta7.
Title: Cryo-EM structure of I domain-containing integrin αEβ7.
Expression of integrin beta-7 is epigenetically enhanced in multiple myeloma subgroups with high-risk cytogenetics.
Title: Expression of integrin β-7 is epigenetically enhanced in multiple myeloma subgroups with high-risk cytogenetics.
Integrated analysis reveals the participation of IL4I1, ITGB7, and FUT7 in reshaping the TNBC immune microenvironment by targeting glycolysis.
Title: Integrated analysis reveals the participation of IL4I1, ITGB7, and FUT7 in reshaping the TNBC immune microenvironment by targeting glycolysis.
The association of alpha4beta7 expression with HIV acquisition and disease progression in people who inject drugs and men who have sex with men: Case control studies.
Title: The association of α4β7 expression with HIV acquisition and disease progression in people who inject drugs and men who have sex with men: Case control studies.
Expression of activated integrin beta7 in multiple myeloma patients.
Title: Expression of activated integrin β7 in multiple myeloma patients.
The V2 loop of HIV gp120 delivers costimulatory signals to CD4(+) T cells through Integrin alpha4beta7 and promotes cellular activation and infection.
Title: The V2 loop of HIV gp120 delivers costimulatory signals to CD4(+) T cells through Integrin α(4)β(7) and promotes cellular activation and infection.
Abnormal Peyer patch development and B-cell gut homing drive IgA deficiency in Kabuki syndrome.
Title: Abnormal Peyer patch development and B-cell gut homing drive IgA deficiency in Kabuki syndrome.
Racial differences in alpha4beta7 expression on CD4+ T cells of HIV-negative men and women who inject drugs.
Title: Racial differences in α4β7 expression on CD4+ T cells of HIV-negative men and women who inject drugs.
Increased frequencies of pre-HIV alpha4beta7(+) CD4(+) T cells were also associated with higher postinfection expression of lipopolysaccharide binding protein, a microbial translocation marker, suggestive of more extensive gut damage.
Title: Integrin α(4)β(7) expression on peripheral blood CD4(+) T cells predicts HIV acquisition and disease progression outcomes.
Transmission of integrin beta7 transmembrane domain topology enables gut lymphoid tissue development.
Title: Transmission of integrin β7 transmembrane domain topology enables gut lymphoid tissue development.

Submit: New GeneRIF Correction See all GeneRIFs (44)

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
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 infected patients exhibit an upregulation of ITGA4/ITGB7 positive lymphocytes in peripheral blood of immunological nonresponder clinical samples	PubMed
Knockdown of integrin, beta 7 (ITGB7) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 Env (gp120) V2/V3 loops bind to ITGA4 and ITGB7 (a4b7), which can be inhibited by anti-V2 peptide or integrin or anti-V3 antibodies	PubMed
	env	HIV-1 Env gp120 amino acids from position 158 to 192 bind alpha-4/beta-7 integrin (ITGA4/ITGB7)	PubMed
	env	HIV-1 Env gp120 with P/SDI/V-ITGA4/ITGB7 binding motifs interact more with ITGA4/ITGB7	PubMed
	env	HIV-1 Env gp120/41 (JRFL Env in the contaxt of HIV-Gag-GFP VLP) binds to ITGB7 on the surface of basophils	PubMed
	env	Increased integrin alpha4beta7 affinity is mediated by sequences encoded in gp120 V1/V2 and also influenced by N-linked glycosylation sites located in gp120 C3/V4	PubMed
	env	Little or no integrin alpha4beta7 binding is detected with multiple HIV-1 gp120s and gp140s, including gp120s from transmitted/founder strains, or when gp120 is produced in CHO, 293T, and 293S/GnT1(-/-) cells	PubMed
	env	The peptide segment at positions 166-178 of the V2 loop of HIV-1 gp120 appears to harbor a cryptic determinant of integrin alpha4beta7 binding on primary human T cells	PubMed
	env	Integrin alpha4beta 7 mediates HIV-1 gp120 binding to natural killer cells. The residues 182-184 in the V2 loop of gp120 is required for the binding between gp120 and integrin alpha4beta7	PubMed
	env	Treatment of B cells with HIV-1 gp120 upregulates the expression of FCRL4 and limits the proliferative expansion of B cells in an integrin alpha 4/beta 7-dependent manner	PubMed
	env	HIV-1 gp120 binds to human B cells through integrin alpha 4/beta 7	PubMed
	env	HIV-1 gp120/41 Envelope proteins form a complex with integrin alpha4beta7 and chemokine receptor CCR5 on the CD4-negative gamma-delta T cell membrane, which leads to activation of the p38-caspase pathway and induces the death of gamma-delta cells	PubMed
	env	The gp120-integrin alpha4beta7 complex mediates LFA-1 activation on T cells and increases the efficiency of infection by promoting synapse formation	PubMed
Envelope surface glycoprotein gp160, precursor	env	Little or no integrin alpha4beta7 binding is detected with multiple HIV-1140s in human cells	PubMed
Envelope transmembrane glycoprotein gp41	env	HIV-1 gp120/41 Envelope proteins form a complex with integrin alpha4beta7 and chemokine receptor CCR5 on the CD4-negative gamma-delta T cell membrane, which leads to activation of the p38-caspase pathway and induces the death of gamma-delta cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RK1228_1229 (e-PCR)
- UniSTS:15186

D12S1937 (e-PCR)
- UniSTS:14701

SHGC-148278 (e-PCR)
- UniSTS:176295

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cell adhesion molecule binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables integrin binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables virus receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in T cell migration	IEA Inferred from Electronic Annotation more info
involved_in cell adhesion	TAS Traceable Author Statement more info	PubMed
involved_in cell adhesion mediated by integrin	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-matrix adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-matrix adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in cell-matrix adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-matrix adhesion involved in ameboidal cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heterotypic cell-cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in immune response in gut-associated lymphoid tissue	NAS Non-traceable Author Statement more info	PubMed
involved_in integrin-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in integrin-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in integrin-mediated signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in leukocyte migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in leukocyte tethering or rolling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in receptor clustering	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in substrate adhesion-dependent cell spreading	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in symbiont entry into host cell	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
is_active_in focal adhesion	IBA Inferred from Biological aspect of Ancestor more info
part_of integrin alpha4-beta7 complex	IDA Inferred from Direct Assay more info	PubMed
part_of integrin alpha4-beta7 complex	IPI Inferred from Physical Interaction more info	PubMed
part_of integrin complex	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	HDA more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: integrin beta-7

Names: gut homing receptor beta subunit; integrin beta 7 subunit

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.

mRNA and Protein(s)

NM_000889.3 → NP_000880.1 integrin beta-7 isoform a precursor

See identical proteins and their annotated locations for NP_000880.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1 and 3-8 all encode the same isoform (a).

Source sequence(s)

DC296007, S80335

Consensus CDS

CCDS8849.1

UniProtKB/Swiss-Prot

P26010, Q9UCP7, Q9UCS7

Related

ENSP00000267082.4, ENST00000267082.10

Conserved Domains (5) summary

smart00187
Location:50 → 476

INB; Integrin beta subunits (N-terminal portion of extracellular region)

pfam07965
Location:645 → 717

Integrin_B_tail; Integrin beta tail domain

pfam07974
Location:607 → 635

EGF_2; EGF-like domain

pfam08725
Location:750 → 791

Integrin_b_cyt; Integrin beta cytoplasmic domain

pfam12785
Location:537 → 645

VESA1_N; Variant erythrocyte surface antigen-1
NM_001414156.1 → NP_001401085.1 integrin beta-7 isoform a precursor

Status: REVIEWED

Source sequence(s)

AC073573

UniProtKB/Swiss-Prot

P26010, Q9UCP7, Q9UCS7
NM_001414157.1 → NP_001401086.1 integrin beta-7 isoform a precursor

Status: REVIEWED

Source sequence(s)

AC073573

UniProtKB/Swiss-Prot

P26010, Q9UCP7, Q9UCS7
NM_001414158.1 → NP_001401087.1 integrin beta-7 isoform a precursor

Status: REVIEWED

Source sequence(s)

AC073573

UniProtKB/Swiss-Prot

P26010, Q9UCP7, Q9UCS7

Related

ENSP00000408741.3, ENST00000422257.7
NM_001414159.1 → NP_001401088.1 integrin beta-7 isoform a precursor

Status: REVIEWED

Source sequence(s)

AC073573

UniProtKB/Swiss-Prot

P26010, Q9UCP7, Q9UCS7
NM_001414160.1 → NP_001401089.1 integrin beta-7 isoform a precursor

Status: REVIEWED

Source sequence(s)

AC073573

UniProtKB/Swiss-Prot

P26010, Q9UCP7, Q9UCS7
NM_001414161.1 → NP_001401090.1 integrin beta-7 isoform a precursor

Status: REVIEWED

Source sequence(s)

AC073573

UniProtKB/Swiss-Prot

P26010, Q9UCP7, Q9UCS7
NM_001414162.1 → NP_001401091.1 integrin beta-7 isoform b precursor

Status: REVIEWED

Source sequence(s)

AC073573
NM_001414163.1 → NP_001401092.1 integrin beta-7 isoform b precursor

Status: REVIEWED

Source sequence(s)

AC073573
NM_001414164.1 → NP_001401093.1 integrin beta-7 isoform b precursor

Status: REVIEWED

Source sequence(s)

AC073573
NM_001414165.1 → NP_001401094.1 integrin beta-7 isoform c precursor

Status: REVIEWED

Source sequence(s)

AC073573
NM_001414166.1 → NP_001401095.1 integrin beta-7 isoform c precursor

Status: REVIEWED

Source sequence(s)

AC073573
NM_001414167.1 → NP_001401096.1 integrin beta-7 isoform c precursor

Status: REVIEWED

Source sequence(s)

AC073573
NM_001414169.1 → NP_001401098.1 integrin beta-7 isoform d precursor

Status: REVIEWED

Source sequence(s)

AC073573
NM_001414170.1 → NP_001401099.1 integrin beta-7 isoform d precursor

Status: REVIEWED

Source sequence(s)

AC073573
NM_001414171.1 → NP_001401100.1 integrin beta-7 isoform d precursor

Status: REVIEWED

Source sequence(s)

AC073573
NM_001414172.1 → NP_001401101.1 integrin beta-7 isoform d precursor

Status: REVIEWED

Source sequence(s)

AC073573

Related

ENSP00000455374.2, ENST00000550743.6
NM_001414173.1 → NP_001401102.1 integrin beta-7 isoform e

Status: REVIEWED

Source sequence(s)

AC073573

RNA

NR_104181.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks one alternate 5' exon and three alternate 3' exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC073573, AI804573, AK300960

Related

ENST00000542497.5
NR_182253.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC073573
NR_182254.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC073573