ITGB4 integrin subunit beta 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ITGB4provided by HGNC
Official Full Name: integrin subunit beta 4provided by HGNC
Primary source: HGNC:HGNC:6158
See related: Ensembl:ENSG00000132470 MIM:147557; AllianceGenome:HGNC:6158
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
Also known as: CD104; GP150; JEB5A; JEB5B
Summary: Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Mutations in this gene are associated with epidermolysis bullosa with pyloric atresia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Broad expression in stomach (RPKM 27.7), skin (RPKM 23.3) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q25.1

Exon count:: 43

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (75721459..75757818)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (76614671..76651043)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (73717539..73753899)

Chromosome 17 - NC_000017.11 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?

YKL40/Integrin beta4 Axis Induced by the Interaction between Cancer Cells and Tumor-Associated Macrophages Is Involved in the Progression of High-Grade Serous Ovarian Carcinoma.
Title: YKL40/Integrin β4 Axis Induced by the Interaction between Cancer Cells and Tumor-Associated Macrophages Is Involved in the Progression of High-Grade Serous Ovarian Carcinoma.
The association between integrin beta4 overexpression and lymphovascular invasion in papillary thyroid cancer.
Title: The association between integrin β4 overexpression and lymphovascular invasion in papillary thyroid cancer.
NEDD4L mediates ITGB4 ubiquitination and degradation to suppress esophageal carcinoma progression.
Title: NEDD4L mediates ITGB4 ubiquitination and degradation to suppress esophageal carcinoma progression.
Exosome-transmitted FOSL1 from cancer-associated fibroblasts drives colorectal cancer stemness and chemo-resistance through transcriptionally activating ITGB4.
Title: Exosome-transmitted FOSL1 from cancer-associated fibroblasts drives colorectal cancer stemness and chemo-resistance through transcriptionally activating ITGB4.
MDFI promotes the proliferation and tolerance to chemotherapy of colorectal cancer cells by binding ITGB4/LAMB3 to activate the AKT signaling pathway.
Title: MDFI promotes the proliferation and tolerance to chemotherapy of colorectal cancer cells by binding ITGB4/LAMB3 to activate the AKT signaling pathway.
ING3 inhibits the malignant progression of lung adenocarcinoma by negatively regulating ITGB4 expression to inactivate Src/FAK signaling.
Title: ING3 inhibits the malignant progression of lung adenocarcinoma by negatively regulating ITGB4 expression to inactivate Src/FAK signaling.
Unraveling dedifferentiation and metastasis traces in pancreatic ductal adenocarcinoma ductal cells: Insights from single-cell RNA sequencing analysis of ITGB4 and C19orf33.
Title: Unraveling dedifferentiation and metastasis traces in pancreatic ductal adenocarcinoma ductal cells: Insights from single-cell RNA sequencing analysis of ITGB4 and C19orf33.
ITGB4 upregulation is associated with progression of lower grade glioma.
Title: ITGB4 upregulation is associated with progression of lower grade glioma.
Identification of ITGB4 as a novel tumor promoting gene in lung adenocarcinoma (LUAD).
Title: Identification of ITGB4 as a novel tumor promoting gene in lung adenocarcinoma (LUAD).
Integrin beta4 induced epithelial-to-mesenchymal transition involves miR-383 mediated regulation of GATA6 levels.
Title: Integrin β4 induced epithelial-to-mesenchymal transition involves miR-383 mediated regulation of GATA6 levels.

Submit: New GeneRIF Correction See all GeneRIFs (200)

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

Associated conditions

Description	Tests
Epidermolysis bullosa, junctional 5A, intermediate MedGen: C5676956 OMIM: 619816 GeneReviews: Not available	Compare labs
Junctional epidermolysis bullosa with pyloric atresia MedGen: C5676875 OMIM: 226730 GeneReviews: Junctional Epidermolysis Bullosa, Epidermolysis Bullosa with Pyloric Atresia	Compare labs

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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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	A monoclonal antibody to beta 4 integrin inhibited cellular attachment of HIV-1 Tat by over 90%, suggesting an interaction between Tat and the beta 4 integrin subunit in cell attachment to Tat	PubMed
retropepsin	gag-pol	Beta4 integrin and alpha3 integrin are cleaved by the HIV-1 protease in human embryonic fibroblasts	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH18101 (e-PCR)
- UniSTS:33806

ksks329 (e-PCR)
- UniSTS:514374

RH47571 (e-PCR)
- UniSTS:80458

D17S2049 (e-PCR)
- UniSTS:31843

SHGC-111569 (e-PCR)
- UniSTS:168404

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to insulin-like growth factor I 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
contributes_to neuregulin binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell adhesion	NAS Non-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 motility	IMP Inferred from Mutant Phenotype more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in filopodium assembly	IEA Inferred from Electronic Annotation more info
involved_in hemidesmosome assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in hemidesmosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in integrin-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in mesodermal cell differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in nail development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in peripheral nervous system myelin formation	IEA Inferred from Electronic Annotation more info
involved_in response to wounding	IDA Inferred from Direct Assay more info	PubMed
involved_in skin morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in trophoblast cell migration	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in basal plasma membrane	IEA Inferred from Electronic Annotation more info
located_in basement membrane	IEA Inferred from Electronic Annotation more info
located_in cell junction	IDA Inferred from Direct Assay more info
located_in cell leading edge	IDA Inferred from Direct Assay more info	PubMed
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
located_in hemidesmosome	IDA Inferred from Direct Assay more info	PubMed
part_of integrin complex	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear membrane	IDA Inferred from Direct Assay more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay 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-4

Names: CD104 antigen

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.

Genomic

NG_007372.2 RefSeqGene

Range

5002..41361

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000213.5 → NP_000204.3 integrin beta-4 isoform 1 precursor

See identical proteins and their annotated locations for NP_000204.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AC087749, AI318403, CA391583, X51841, X52186, X53587

Consensus CDS

CCDS11727.1

UniProtKB/Swiss-Prot

A0AVL6, O14690, O14691, O15339, O15340, O15341, P16144, Q0VF97, Q9UIQ4

UniProtKB/TrEMBL

B7ZLD8

Related

ENSP00000200181.3, ENST00000200181.8

Conserved Domains (6) summary

cd00063
Location:1220 → 1313

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam00041
Location:1529 → 1611

fn3; Fibronectin type III domain

pfam00362
Location:37 → 453

Integrin_beta; Integrin, beta chain

pfam03160
Location:990 → 1084

Calx-beta; Calx-beta domain

pfam07965
Location:626 → 709

Integrin_B_tail; Integrin beta tail domain

pfam07974
Location:543 → 573

EGF_2; EGF-like domain
NM_001005619.1 → NP_001005619.1 integrin beta-4 isoform 2 precursor

See identical proteins and their annotated locations for NP_001005619.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in one place but has an additional in-frame exon in another place, as compared to variant 1. The encoded isoform 2 thus differs in two regions, as compared to isoform 1.

Source sequence(s)

AI318403, X51841, X52186, X53587

Consensus CDS

CCDS32736.1

UniProtKB/TrEMBL

B7ZLD8

Conserved Domains (6) summary

cd00063
Location:1220 → 1313

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam00041
Location:1512 → 1594

fn3; Fibronectin type III domain

pfam00362
Location:37 → 453

Integrin_beta; Integrin, beta chain

pfam03160
Location:990 → 1084

Calx-beta; Calx-beta domain

pfam07965
Location:626 → 709

Integrin_B_tail; Integrin beta tail domain

pfam07974
Location:543 → 573

EGF_2; EGF-like domain
NM_001005731.3 → NP_001005731.1 integrin beta-4 isoform 3 precursor

See identical proteins and their annotated locations for NP_001005731.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an in-frame exon in the coding region, as compared to variant 1. The encoded isoform 3 thus lacks an internal segment, as compared to isoform 1.

Source sequence(s)

AI318403, CA391583, X51841, X52186, X53587

Consensus CDS

CCDS58599.1

UniProtKB/TrEMBL

B7ZLD8

Related

ENSP00000405536.3, ENST00000450894.7

Conserved Domains (6) summary

cd00063
Location:1220 → 1313

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam00041
Location:1459 → 1541

fn3; Fibronectin type III domain

pfam00362
Location:37 → 453

Integrin_beta; Integrin, beta chain

pfam03160
Location:990 → 1084

Calx-beta; Calx-beta domain

pfam07965
Location:626 → 709

Integrin_B_tail; Integrin beta tail domain

pfam07974
Location:543 → 573

EGF_2; EGF-like domain
NM_001321123.2 → NP_001308052.1 integrin beta-4 isoform 3 precursor

Status: REVIEWED

Source sequence(s)

BC143742, CA391583, X51841, X52186

Consensus CDS

CCDS58599.1

UniProtKB/TrEMBL

B7ZLD8

Related

ENSP00000463651.1, ENST00000579662.5

Conserved Domains (6) summary

cd00063
Location:1220 → 1313

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam00041
Location:1459 → 1541

fn3; Fibronectin type III domain

pfam00362
Location:37 → 453

Integrin_beta; Integrin, beta chain

pfam03160
Location:990 → 1084

Calx-beta; Calx-beta domain

pfam07965
Location:626 → 709

Integrin_B_tail; Integrin beta tail domain

pfam07974
Location:543 → 573

EGF_2; EGF-like domain

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_000017.11 Reference GRCh38.p14 Primary Assembly

Range

75721459..75757818

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005257311.5 → XP_005257368.1 integrin beta-4 isoform X2

See identical proteins and their annotated locations for XP_005257368.1

UniProtKB/TrEMBL

B7ZLD8

Conserved Domains (6) summary

cd00063
Location:1220 → 1313

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam00041
Location:1582 → 1664

fn3; Fibronectin type III domain

pfam00362
Location:37 → 453

Integrin_beta; Integrin, beta chain

pfam03160
Location:990 → 1084

Calx-beta; Calx-beta domain

pfam07965
Location:626 → 709

Integrin_B_tail; Integrin beta tail domain

pfam07974
Location:543 → 573

EGF_2; EGF-like domain
XM_047435927.1 → XP_047291883.1 integrin beta-4 isoform X7

Related

ENSP00000400217.2, ENST00000449880.7
XM_047435929.1 → XP_047291885.1 integrin beta-4 isoform X10
XM_005257309.3 → XP_005257366.1 integrin beta-4 isoform X2

See identical proteins and their annotated locations for XP_005257366.1

UniProtKB/TrEMBL

B7ZLD8

Conserved Domains (6) summary

cd00063
Location:1220 → 1313

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam00041
Location:1582 → 1664

fn3; Fibronectin type III domain

pfam00362
Location:37 → 453

Integrin_beta; Integrin, beta chain

pfam03160
Location:990 → 1084

Calx-beta; Calx-beta domain

pfam07965
Location:626 → 709

Integrin_B_tail; Integrin beta tail domain

pfam07974
Location:543 → 573

EGF_2; EGF-like domain
XM_047435926.1 → XP_047291882.1 integrin beta-4 isoform X3
XM_006721866.4 → XP_006721929.1 integrin beta-4 isoform X1

UniProtKB/TrEMBL

B7ZLD8

Conserved Domains (6) summary

cd00063
Location:1255 → 1348

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam00041
Location:1617 → 1699

fn3; Fibronectin type III domain

pfam00362
Location:72 → 488

Integrin_beta; Integrin, beta chain

pfam03160
Location:1025 → 1119

Calx-beta; Calx-beta domain

pfam07965
Location:661 → 744

Integrin_B_tail; Integrin beta tail domain

pfam07974
Location:578 → 608

EGF_2; EGF-like domain
XM_006721867.4 → XP_006721930.1 integrin beta-4 isoform X4

UniProtKB/TrEMBL

B7ZLD8

Conserved Domains (6) summary

cd00063
Location:1255 → 1348

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam00041
Location:1564 → 1646

fn3; Fibronectin type III domain

pfam00362
Location:72 → 488

Integrin_beta; Integrin, beta chain

pfam03160
Location:1025 → 1119

Calx-beta; Calx-beta domain

pfam07965
Location:661 → 744

Integrin_B_tail; Integrin beta tail domain

pfam07974
Location:578 → 608

EGF_2; EGF-like domain
XM_011524751.3 → XP_011523053.1 integrin beta-4 isoform X6

UniProtKB/TrEMBL

B7ZLD8

Conserved Domains (6) summary

cd00063
Location:1255 → 1348

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam00041
Location:1627 → 1712

fn3; Fibronectin type III domain

pfam00362
Location:72 → 488

Integrin_beta; Integrin, beta chain

pfam03160
Location:1025 → 1119

Calx-beta; Calx-beta domain

pfam07965
Location:661 → 744

Integrin_B_tail; Integrin beta tail domain

pfam07974
Location:578 → 608

EGF_2; EGF-like domain
XM_006721868.4 → XP_006721931.1 integrin beta-4 isoform X5

UniProtKB/TrEMBL

B7ZLD8

Conserved Domains (6) summary

cd00063
Location:1255 → 1348

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam00041
Location:1547 → 1629

fn3; Fibronectin type III domain

pfam00362
Location:72 → 488

Integrin_beta; Integrin, beta chain

pfam03160
Location:1025 → 1119

Calx-beta; Calx-beta domain

pfam07965
Location:661 → 744

Integrin_B_tail; Integrin beta tail domain

pfam07974
Location:578 → 608

EGF_2; EGF-like domain
XM_006721870.4 → XP_006721933.1 integrin beta-4 isoform X8

UniProtKB/TrEMBL

B7ZLD8

Conserved Domains (6) summary

cd00063
Location:1255 → 1348

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam00041
Location:1494 → 1576

fn3; Fibronectin type III domain

pfam00362
Location:72 → 488

Integrin_beta; Integrin, beta chain

pfam03160
Location:1025 → 1119

Calx-beta; Calx-beta domain

pfam07965
Location:661 → 744

Integrin_B_tail; Integrin beta tail domain

pfam07974
Location:578 → 608

EGF_2; EGF-like domain
XM_047435928.1 → XP_047291884.1 integrin beta-4 isoform X9
XM_011524752.3 → XP_011523054.1 integrin beta-4 isoform X11

Conserved Domains (3) summary

cd00063
Location:535 → 628

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam00041
Location:897 → 979

fn3; Fibronectin type III domain

pfam03160
Location:305 → 399

Calx-beta; Calx-beta domain