ITGB8 integrin subunit beta 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ITGB8provided by HGNC
Official Full Name: integrin subunit beta 8provided by HGNC
Primary source: HGNC:HGNC:6163
See related: Ensembl:ENSG00000105855 MIM:604160; AllianceGenome:HGNC:6163
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 is a member of the integrin beta chain family and encodes a single-pass type I membrane protein with a VWFA domain and four cysteine-rich repeats. This protein noncovalently binds to an alpha subunit to form a heterodimeric integrin complex. In general, integrin complexes mediate cell-cell and cell-extracellular matrix interactions and this complex plays a role in human airway epithelial proliferation. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
Expression: Broad expression in kidney (RPKM 12.1), brain (RPKM 11.6) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p21.1

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (20329766..20415754)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (20464766..20550710)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (20370523..20455377)

Chromosome 7 - NC_000007.14 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
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?

Interaction of Integrin alphavbeta8 With Type I Collagen Promotes Squamous Cell Carcinoma Cell Motility via RAC1 Activation.
Title: Interaction of Integrin αvβ8 With Type I Collagen Promotes Squamous Cell Carcinoma Cell Motility via RAC1 Activation.
Specificity of TGF-beta1 signal designated by LRRC33 and integrin alphaVbeta8.
Title: Specificity of TGF-β1 signal designated by LRRC33 and integrin α(V)β(8).
Integrin subunit beta 8 contributes to lenvatinib resistance in HCC.
Title: Integrin subunit beta 8 contributes to lenvatinib resistance in HCC.
Paradoxical role of beta8 integrin on angiogenesis and vasculogenic mimicry in glioblastoma.
Title: Paradoxical role of β8 integrin on angiogenesis and vasculogenic mimicry in glioblastoma.
lncRNA ITGB8-AS1 functions as a ceRNA to promote colorectal cancer growth and migration through integrin-mediated focal adhesion signaling.
Title: lncRNA ITGB8-AS1 functions as a ceRNA to promote colorectal cancer growth and migration through integrin-mediated focal adhesion signaling.
Circular RNA TTBK2 regulates cell proliferation, invasion and ferroptosis via miR-761/ITGB8 axis in glioma.
Title: Circular RNA TTBK2 regulates cell proliferation, invasion and ferroptosis via miR-761/ITGB8 axis in glioma.
The long non-coding RNA PVT1/miR-145-5p/ITGB8 axis regulates cell proliferation, apoptosis, migration and invasion in non-small cell lung cancer cells.
Title: The long non-coding RNA PVT1/miR-145-5p/ITGB8 axis regulates cell proliferation, apoptosis, migration and invasion in non-small cell lung cancer cells.
Data uncovered that ITGB8 was a target gene of miR-106b. ITGB8 mRNA and protein levels decreased in colon cancer cells overexpressing miR-106b.
Title: Has_circ_0055625 from circRNA profile increases colon cancer cell growth by sponging miR-106b-5p.
ITGB8 gene SNPs may be implicated in the risk of hemorrhagic event after a traumatic brain injury.
Title: Effect of integrin AV and B8 gene polymorphisms in patients with traumatic brain injury.
Lack of a binding site for one of three betaI domain divalent cations and a unique beta6-alpha7 loop conformation in beta8 facilitate movements of the alpha1 and alpha1' helices at the ligand binding pocket toward the high affinity state.
Title: General structural features that regulate integrin affinity revealed by atypical αVβ8.

Submit: New GeneRIF Correction See all GeneRIFs (45)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

RH17734 (e-PCR)
- UniSTS:26901

RH102478 (e-PCR)
- UniSTS:96812

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

ITGB8 (e-PCR)
- UniSTS:503617

GDB:1317418 (e-PCR)
- UniSTS:18254

RH66568 (e-PCR)
- UniSTS:62299

ITGB8 (e-PCR)
- UniSTS:71013

RH120257 (e-PCR)
- UniSTS:132713

RH92522 (e-PCR)
- UniSTS:88964

RH71155 (e-PCR)
- UniSTS:19106

AB049869 (e-PCR)
- UniSTS:479907

ITGB8_762 (e-PCR)
- UniSTS:280793

SHGC-12785 (e-PCR)
- UniSTS:9706

D7S1900 (e-PCR)
- UniSTS:40426

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables extracellular matrix protein binding	IDA Inferred from Direct Assay 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

Process	Evidence Code	Pubs
involved_in Langerhans cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cartilage development	IMP Inferred from Mutant Phenotype more info	PubMed
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 migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
NOT involved_in cell-matrix adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-matrix adhesion	NAS Non-traceable Author Statement more info	PubMed
involved_in ganglioside metabolic process	IEA Inferred from Electronic Annotation more info
involved_in hard palate development	IEA Inferred from Electronic Annotation more info
involved_in immune response	IEA Inferred from Electronic Annotation more info
involved_in integrin-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in integrin-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in placenta blood vessel development	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to virus	IEA Inferred from Electronic Annotation more info
involved_in transforming growth factor beta receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in vasculogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

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 alphav-beta8 complex	IDA Inferred from Direct Assay more info	PubMed
part_of integrin alphav-beta8 complex	IPI Inferred from Physical Interaction more info	PubMed
part_of integrin complex	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: integrin beta-8

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_002214.3 → NP_002205.1 integrin beta-8 precursor

See identical proteins and their annotated locations for NP_002205.1

Status: REVIEWED

Source sequence(s)

AC004130, AW516961, BC002630, BI861225, M73780

Consensus CDS

CCDS5370.1

UniProtKB/Swiss-Prot

A4D133, B4DHD4, P26012

Related

ENSP00000222573.3, ENST00000222573.5

Conserved Domains (1) summary

smart00187
Location:54 → 469

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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

20329766..20415754

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011515393.3 → XP_011513695.1 integrin beta-8 isoform X2

Conserved Domains (1) summary

smart00187
Location:46 → 461

INB; Integrin beta subunits (N-terminal portion of extracellular region)
XM_017012179.2 → XP_016867668.1 integrin beta-8 isoform X1

UniProtKB/Swiss-Prot

A4D133, B4DHD4, P26012

Conserved Domains (1) summary

smart00187
Location:54 → 469

INB; Integrin beta subunits (N-terminal portion of extracellular region)
XM_047420345.1 → XP_047276301.1 integrin beta-8 isoform X4
XM_047420341.1 → XP_047276297.1 integrin beta-8 isoform X4
XM_011515394.3 → XP_011513696.1 integrin beta-8 isoform X3

Conserved Domains (1) summary

smart00187
Location:43 → 458

INB; Integrin beta subunits (N-terminal portion of extracellular region)
XM_017012178.2 → XP_016867667.1 integrin beta-8 isoform X1

UniProtKB/Swiss-Prot

A4D133, B4DHD4, P26012

Conserved Domains (1) summary

smart00187
Location:54 → 469

INB; Integrin beta subunits (N-terminal portion of extracellular region)
XM_047420342.1 → XP_047276298.1 integrin beta-8 isoform X4
XM_047420343.1 → XP_047276299.1 integrin beta-8 isoform X4
XM_017012183.2 → XP_016867672.1 integrin beta-8 isoform X4

UniProtKB/Swiss-Prot

P26012

Related

ENSP00000441561.1, ENST00000537992.5

Conserved Domains (1) summary

cl00057
Location:1 → 334

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
XM_017012182.2 → XP_016867671.1 integrin beta-8 isoform X4

UniProtKB/Swiss-Prot

P26012

Conserved Domains (1) summary

cl00057
Location:1 → 334

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
XM_017012180.2 → XP_016867669.1 integrin beta-8 isoform X4

UniProtKB/Swiss-Prot

P26012

Conserved Domains (1) summary

cl00057
Location:1 → 334

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
XM_047420344.1 → XP_047276300.1 integrin beta-8 isoform X4