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ITGB4 integrin, beta 4 [ Homo sapiens (human) ]

Gene ID: 3691, updated on 27-Sep-2014
Official Symbol
ITGB4provided by HGNC
Official Full Name
integrin, beta 4provided by HGNC
Primary source
HGNC:HGNC:6158
See related
Ensembl:ENSG00000132470; HPRD:00946; MIM:147557; Vega:OTTHUMG00000179814
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
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]
See ITGB4 in Epigenomics, MapViewer
Location:
17q25
Exon count:
43
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 17 NC_000017.11 (75721436..75757818)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (73717516..73753899)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RecQ protein-like 5 Neighboring gene small integral membrane protein 6 Neighboring gene SAP30 binding protein Neighboring gene galactokinase 1 Neighboring gene H3 histone, family 3B (H3.3B)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

  • Alpha6-Beta4 Integrin Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Alpha6-Beta4 Integrin Signaling Pathway, organism-specific biosystem"Integrins are cell surface heterodimeric protein complex consisting of one alpha and one beta chain. Integrins act as cell adhesion molecules as well as participate in cellular signaling. The ligand...
  • Arrhythmogenic right ventricular cardiomyopathy, organism-specific biosystem (from WikiPathways)
    Arrhythmogenic right ventricular cardiomyopathy, organism-specific biosystemAdapted from KEGG: http://www.genome.jp/kegg/pathway/hsa/hsa05412.html
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
  • Assembly of collagen fibrils and other multimeric structures, organism-specific biosystem (from REACTOME)
    Assembly of collagen fibrils and other multimeric structures, organism-specific biosystemCollagen trimers in triple-helical form, referred to as procollagen or collagen molecules, are exported from the ER and trafficked through the Golgi network before secretion into the extracellular sp...
  • Cell junction organization, organism-specific biosystem (from REACTOME)
    Cell junction organization, organism-specific biosystem
    Cell junction organization
  • Cell-Cell communication, organism-specific biosystem (from REACTOME)
    Cell-Cell communication, organism-specific biosystemCell-to-Cell communication is crucial for multicellular organisms because it allows organisms to coordinate the activity of their cells. Some cell-to-cell communication requires direct cell-cell cont...
  • Collagen formation, organism-specific biosystem (from REACTOME)
    Collagen formation, organism-specific biosystemCollagen is a family of at least 29 structural proteins derived from over 40 human genes (Myllyharju & Kivirikko 2004). It is the main component of connective tissue, and the most abundant protein in...
  • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
    Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • Dilated cardiomyopathy, conserved biosystem (from KEGG)
    Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • ECM-receptor interaction, organism-specific biosystem (from KEGG)
    ECM-receptor interaction, organism-specific biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
  • ECM-receptor interaction, conserved biosystem (from KEGG)
    ECM-receptor interaction, conserved biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
  • Focal Adhesion, organism-specific biosystem (from WikiPathways)
    Focal Adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • Focal adhesion, organism-specific biosystem (from KEGG)
    Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • Focal adhesion, conserved biosystem (from KEGG)
    Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • Integrin-mediated cell adhesion, organism-specific biosystem (from WikiPathways)
    Integrin-mediated cell adhesion, organism-specific biosystemIntegrins are receptors that mediate attachment between a cell and the tissues surrounding it, which may be other cells or the extracellular matrix (ECM). They also play a role in cell signaling and ...
  • Laminin interactions, organism-specific biosystem (from REACTOME)
    Laminin interactions, organism-specific biosystemLaminins are a large family of conserved, multidomain trimeric basement membrane proteins. There are many theoretical trimer combinations but only 18 have been described (Domogatskaya et al. 2012, Mi...
  • Non-integrin membrane-ECM interactions, organism-specific biosystem (from REACTOME)
    Non-integrin membrane-ECM interactions, organism-specific biosystemSeveral non-integrin membrane proteins interact with extracellular matrix proteins. Transmembrane proteoglycans may associate with integrins and growth factor receptors to influence their function, o...
  • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
    PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
    PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
    Regulation of actin cytoskeleton, organism-specific biosystem
    Regulation of actin cytoskeleton
  • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
    Regulation of actin cytoskeleton, conserved biosystem
    Regulation of actin cytoskeleton
  • Syndecan interactions, organism-specific biosystem (from REACTOME)
    Syndecan interactions, organism-specific biosystemSyndecans are type I transmembrane proteins, with an N-terminal ectodomain that contains several consensus sequences for glycosaminoglycan (GAG) attachment and a short C-terminal cytoplasmic domain. ...
  • Type I hemidesmosome assembly, organism-specific biosystem (from REACTOME)
    Type I hemidesmosome assembly, organism-specific biosystemHemidesmosomes (HDs) are specialized multiprotein junctional complexes that connect the keratin cytoskeleton of epithelial cells to the extracellular matrix and play a critical role in the maintenan...
  • Validated targets of C-MYC transcriptional repression, organism-specific biosystem (from Pathway Interaction Database)
    Validated targets of C-MYC transcriptional repression, organism-specific biosystem
    Validated targets of C-MYC transcriptional repression
  • Validated transcriptional targets of AP1 family members Fra1 and Fra2, organism-specific biosystem (from Pathway Interaction Database)
    Validated transcriptional targets of AP1 family members Fra1 and Fra2, organism-specific biosystem
    Validated transcriptional targets of AP1 family members Fra1 and Fra2
  • a6b1 and a6b4 Integrin signaling, organism-specific biosystem (from Pathway Interaction Database)
    a6b1 and a6b4 Integrin signaling, organism-specific biosystem
    a6b1 and a6b4 Integrin signaling
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G-protein coupled receptor binding IPI
Inferred from Physical Interaction
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
receptor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
amelogenesis IMP
Inferred from Mutant Phenotype
more info
 
autophagy IMP
Inferred from Mutant Phenotype
more info
 
cell adhesion NAS
Non-traceable Author Statement
more info
PubMed 
cell junction assembly TAS
Traceable Author Statement
more info
 
cell motility IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell-matrix adhesion IMP
Inferred from Mutant Phenotype
more info
 
digestive tract development IMP
Inferred from Mutant Phenotype
more info
 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
filopodium assembly IEA
Inferred from Electronic Annotation
more info
 
hemidesmosome assembly IDA
Inferred from Direct Assay
more info
PubMed 
hemidesmosome assembly IMP
Inferred from Mutant Phenotype
more info
 
hemidesmosome assembly TAS
Traceable Author Statement
more info
 
integrin-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
mesodermal cell differentiation IEP
Inferred from Expression Pattern
more info
 
nail development IMP
Inferred from Mutant Phenotype
more info
 
renal system development IMP
Inferred from Mutant Phenotype
more info
 
response to wounding IDA
Inferred from Direct Assay
more info
PubMed 
skin development IMP
Inferred from Mutant Phenotype
more info
 
Component Evidence Code Pubs
basal plasma membrane IEA
Inferred from Electronic Annotation
more info
 
basement membrane IEA
Inferred from Electronic Annotation
more info
 
cell leading edge IDA
Inferred from Direct Assay
more info
PubMed 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
hemidesmosome IDA
Inferred from Direct Assay
more info
PubMed 
integrin complex IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IDA
Inferred from Direct Assay
more info
 
Preferred Names
integrin beta-4
Names
integrin beta-4
GP150
CD104 antigen
integrin beta-4 subunit

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

  1. NG_007372.1 

    Range
    5001..41384
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See proteins identical to 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/TrEMBL
    A0A024R8T0
    UniProtKB/Swiss-Prot
    P16144
    Related
    ENSP00000200181, OTTHUMP00000262488, ENST00000200181, OTTHUMT00000448334
    Conserved Domains (5) summary
    smart00187
    Location:37453
    INB; Integrin beta subunits (N-terminal portion of extracellular region)
    cd00063
    Location:15281609
    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 ...
    pfam03160
    Location:9901084
    Calx-beta; Calx-beta domain
    pfam07965
    Location:626711
    Integrin_B_tail; Integrin beta tail domain
    pfam07974
    Location:547573
    EGF_2; EGF-like domain
  2. NM_001005619.1NP_001005619.1  integrin beta-4 isoform 2 precursor

    See proteins identical to 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/Swiss-Prot
    P16144
    Related
    ENSP00000400217, OTTHUMP00000262490, ENST00000449880, OTTHUMT00000448338
    Conserved Domains (5) summary
    smart00187
    Location:37453
    INB; Integrin beta subunits (N-terminal portion of extracellular region)
    cd00063
    Location:15111592
    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 ...
    pfam03160
    Location:9901084
    Calx-beta; Calx-beta domain
    pfam07965
    Location:626711
    Integrin_B_tail; Integrin beta tail domain
    pfam07974
    Location:547573
    EGF_2; EGF-like domain
  3. NM_001005731.1NP_001005731.1  integrin beta-4 isoform 3 precursor

    See proteins identical to 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
    A0A024R8K7
    UniProtKB/Swiss-Prot
    P16144
    Related
    ENSP00000405536, OTTHUMP00000262489, ENST00000450894, OTTHUMT00000448335
    Conserved Domains (5) summary
    smart00187
    Location:37453
    INB; Integrin beta subunits (N-terminal portion of extracellular region)
    cd00063
    Location:14581539
    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 ...
    pfam03160
    Location:9901084
    Calx-beta; Calx-beta domain
    pfam07965
    Location:626711
    Integrin_B_tail; Integrin beta tail domain
    pfam07974
    Location:547573
    EGF_2; EGF-like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000017.11 

    Range
    75721436..75757818
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005257311.2XP_005257368.1  

    See proteins identical to XP_005257368.1

    UniProtKB/TrEMBL
    A0A024R8N2
    Conserved Domains (5) summary
    smart00187
    Location:37453
    INB; Integrin beta subunits (N-terminal portion of extracellular region)
    cd00063
    Location:15811662
    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 ...
    pfam03160
    Location:9901084
    Calx-beta; Calx-beta domain
    pfam07965
    Location:626711
    Integrin_B_tail; Integrin beta tail domain
    pfam07974
    Location:543573
    EGF_2; EGF-like domain
  2. XM_005257309.1XP_005257366.1  

    See proteins identical to XP_005257366.1

    UniProtKB/TrEMBL
    A0A024R8N2
    Conserved Domains (5) summary
    smart00187
    Location:37453
    INB; Integrin beta subunits (N-terminal portion of extracellular region)
    cd00063
    Location:15811662
    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 ...
    pfam03160
    Location:9901084
    Calx-beta; Calx-beta domain
    pfam07965
    Location:626711
    Integrin_B_tail; Integrin beta tail domain
    pfam07974
    Location:543573
    EGF_2; EGF-like domain
  3. XM_005257312.1XP_005257369.1  

    See proteins identical to XP_005257369.1

    UniProtKB/TrEMBL
    A0A024R8K7
    UniProtKB/Swiss-Prot
    P16144
    Related
    ENSP00000463651, OTTHUMP00000262487, ENST00000579662, OTTHUMT00000448333
    Conserved Domains (5) summary
    smart00187
    Location:37453
    INB; Integrin beta subunits (N-terminal portion of extracellular region)
    cd00063
    Location:14581539
    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 ...
    pfam03160
    Location:9901084
    Calx-beta; Calx-beta domain
    pfam07965
    Location:626711
    Integrin_B_tail; Integrin beta tail domain
    pfam07974
    Location:547573
    EGF_2; EGF-like domain
  4. XM_006721866.1XP_006721929.1  

    Conserved Domains (5) summary
    smart00187
    Location:72488
    INB; Integrin beta subunits (N-terminal portion of extracellular region)
    cd00063
    Location:16161697
    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 ...
    pfam03160
    Location:10251119
    Calx-beta; Calx-beta domain
    pfam07965
    Location:661746
    Integrin_B_tail; Integrin beta tail domain
    pfam07974
    Location:578608
    EGF_2; EGF-like domain
  5. XM_006721867.1XP_006721930.1  

    Conserved Domains (5) summary
    smart00187
    Location:72488
    INB; Integrin beta subunits (N-terminal portion of extracellular region)
    cd00063
    Location:15631644
    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 ...
    pfam03160
    Location:10251119
    Calx-beta; Calx-beta domain
    pfam07965
    Location:661746
    Integrin_B_tail; Integrin beta tail domain
    pfam07974
    Location:582608
    EGF_2; EGF-like domain
  6. XM_006721868.1XP_006721931.1  

    Conserved Domains (5) summary
    smart00187
    Location:72488
    INB; Integrin beta subunits (N-terminal portion of extracellular region)
    cd00063
    Location:15461627
    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 ...
    pfam03160
    Location:10251119
    Calx-beta; Calx-beta domain
    pfam07965
    Location:661746
    Integrin_B_tail; Integrin beta tail domain
    pfam07974
    Location:578608
    EGF_2; EGF-like domain
  7. XM_006721870.1XP_006721933.1  

    Conserved Domains (5) summary
    smart00187
    Location:72488
    INB; Integrin beta subunits (N-terminal portion of extracellular region)
    cd00063
    Location:14931574
    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 ...
    pfam03160
    Location:10251119
    Calx-beta; Calx-beta domain
    pfam07965
    Location:661746
    Integrin_B_tail; Integrin beta tail domain
    pfam07974
    Location:582608
    EGF_2; EGF-like domain
  8. XM_006721869.1XP_006721932.1  

    Conserved Domains (5) summary
    cd00063
    Location:15271608
    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 ...
    pfam03160
    Location:9361030
    Calx-beta; Calx-beta domain
    pfam07965
    Location:572657
    Integrin_B_tail; Integrin beta tail domain
    pfam07974
    Location:489519
    EGF_2; EGF-like domain
    cl17693
    Location:1399
    Integrin_beta; Integrin, beta chain

Alternate HuRef

Genomic

  1. AC_000149.1 

    Range
    69141364..69178763
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 

    Range
    73782244..73818973
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)