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Aliases for ITGB6 Gene

Aliases for ITGB6 Gene

  • Integrin Subunit Beta 6 2 3 5
  • Integrin, Beta 6 2 3
  • Integrin Beta-6 3
  • AI1H 3

External Ids for ITGB6 Gene

Previous GeneCards Identifiers for ITGB6 Gene

  • GC02M158889
  • GC02M159484
  • GC02M160920
  • GC02M161158
  • GC02M160781
  • GC02M160664
  • GC02M152841

Summaries for ITGB6 Gene

Entrez Gene Summary for ITGB6 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 a dimer with an alpha v chain and this heterodimer can bind to ligands like fibronectin and transforming growth factor beta 1. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

GeneCards Summary for ITGB6 Gene

ITGB6 (Integrin Subunit Beta 6) is a Protein Coding gene. Diseases associated with ITGB6 include Amelogenesis Imperfecta, Type Ih and Hypocalcified Amelogenesis Imperfecta. Among its related pathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Apoptotic Pathways in Synovial Fibroblasts. GO annotations related to this gene include receptor activity and virus receptor activity. An important paralog of this gene is ITGB3.

UniProtKB/Swiss-Prot for ITGB6 Gene

  • Integrin alpha-V/beta-6 is a receptor for fibronectin and cytotactin. It recognizes the sequence R-G-D in its ligands. Internalisation of integrin alpha-V/beta-6 via clathrin-mediated endocytosis promotes carcinoma cell invasion. ITGAV:ITGB6 acts as a receptor for fibrillin-1 (FBN1) and mediates R-G-D-dependent cell adhesion to FBN1 (PubMed:17158881).

  • (Microbial infection) Integrin ITGAV:ITGB6 acts as a receptor for coxsackievirus A9 and coxsackievirus B1 (PubMed:9426447, PubMed:15194773). Integrin ITGAV:ITGB6 acts as a receptor for herpes simplex virus-1/HHV-1 (PubMed:24367260).

Gene Wiki entry for ITGB6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITGB6 Gene

Genomics for ITGB6 Gene

Regulatory Elements for ITGB6 Gene

Enhancers for ITGB6 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
GH02F160219 1.6 FANTOM5 Ensembl ENCODE 24.6 +46.9 46899 11.4 PKNOX1 ZNF48 ZNF766 CBX5 ZNF207 FOS SP5 ZHX2 JUNB REST ITGB6 LY75 PLA2R1 MIR4785 RBMS1 CD302 PIR61464
GH02F160241 1.4 FANTOM5 Ensembl ENCODE 27.5 +29.1 29072 3.6 TBP GTF2F1 ZNF146 JUN GATA3 POLR2A ZNF366 PRDM10 RCOR1 FOSL2 ITGB6 MIR4785 RBMS1 PIR61464 PLA2R1
GH02F160287 1.4 FANTOM5 Ensembl ENCODE 24.9 -19.7 -19703 8.5 HDGF CTCF CBX3 SIN3A CHD4 MAX RAD21 ZNF316 GATA3 CBX5 ITGB6 PLA2R1 MIR4785 RBMS1 CD302 LOC100505984 GC02M160337
GH02F160363 1.6 FANTOM5 Ensembl ENCODE 18.4 -101.5 -101513 20.0 SIN3A FEZF1 YY1 GLIS2 ZNF143 ZNF263 ZNF202 SP3 REST TBX21 PLA2R1 ITGB6 MIR4785 RBMS1 GC02M160337 LOC100419108
GH02F160201 1.6 FANTOM5 Ensembl ENCODE 17.6 +65.0 64991 9.8 PKNOX1 MLX SIN3A ZNF48 SLC30A9 CBX5 ZNF143 FOS REST TBX21 LY75 ITGB6 MIR4785 RBMS1 ENSG00000226266 PLA2R1 CD302 PIR61464
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ITGB6 on UCSC Golden Path with GeneCards custom track

Promoters for ITGB6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001547982 1588 1001 ATF1 CREB3L1 MLX ARID4B SIN3A FEZF1 GLI4 DMAP1 ZNF48 ZNF2

Genomic Location for ITGB6 Gene

Chromosome:
2
Start:
160,099,666 bp from pter
End:
160,271,888 bp from pter
Size:
172,223 bases
Orientation:
Minus strand

Genomic View for ITGB6 Gene

Genes around ITGB6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITGB6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITGB6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITGB6 Gene

Proteins for ITGB6 Gene

  • Protein details for ITGB6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P18564-ITB6_HUMAN
    Recommended name:
    Integrin beta-6
    Protein Accession:
    P18564
    Secondary Accessions:
    • B2R9W5
    • C9JA97
    • Q0VA95
    • Q16500
    • Q53RG5
    • Q53RR6

    Protein attributes for ITGB6 Gene

    Size:
    788 amino acids
    Molecular mass:
    85936 Da
    Quaternary structure:
    • Heterodimer of an alpha and a beta subunit. Beta-6 associates with alpha-V. Interacts with FLNB. Interacts with HAX1. ITGAV:ITGB6 interacts with FBN1 (PubMed:17158881).
    • (Microbial infection) Integrin ITGAV:ITGB6 interacts with coxsackievirus A9, coxsackievirus B1 capsid proteins (PubMed:9426447, PubMed:15194773).
    • (Microbial infection) Integrin ITGAV:ITGB6 interacts with herpes simplex virus-1/HHV-1 gH:gL proteins.

    Three dimensional structures from OCA and Proteopedia for ITGB6 Gene

    Alternative splice isoforms for ITGB6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ITGB6 Gene

Post-translational modifications for ITGB6 Gene

  • Glycosylation at Asn 48, Asn 97, Asn 260, Asn 387, Asn 396, Asn 463, Asn 471, Asn 541, and Asn 575
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for ITGB6 (Integrin beta 6)
  • Cloud-Clone Corp. Antibodies for ITGB6

No data available for DME Specific Peptides for ITGB6 Gene

Domains & Families for ITGB6 Gene

Gene Families for ITGB6 Gene

Suggested Antigen Peptide Sequences for ITGB6 Gene

Graphical View of Domain Structure for InterPro Entry

P18564

UniProtKB/Swiss-Prot:

ITB6_HUMAN :
  • Contains 1 VWFA domain.
  • Belongs to the integrin beta chain family.
Domain:
  • Contains 1 VWFA domain.
Family:
  • Belongs to the integrin beta chain family.
genes like me logo Genes that share domains with ITGB6: view

Function for ITGB6 Gene

Molecular function for ITGB6 Gene

GENATLAS Biochemistry:
integrin,beta 6,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-V/beta-6 is a receptor for fibronectin and cytotactin. It recognizes the sequence R-G-D in its ligands. Internalisation of integrin alpha-V/beta-6 via clathrin-mediated endocytosis promotes carcinoma cell invasion. ITGAV:ITGB6 acts as a receptor for fibrillin-1 (FBN1) and mediates R-G-D-dependent cell adhesion to FBN1 (PubMed:17158881).
UniProtKB/Swiss-Prot Function:
(Microbial infection) Integrin ITGAV:ITGB6 acts as a receptor for coxsackievirus A9 and coxsackievirus B1 (PubMed:9426447, PubMed:15194773). Integrin ITGAV:ITGB6 acts as a receptor for herpes simplex virus-1/HHV-1 (PubMed:24367260).

Gene Ontology (GO) - Molecular Function for ITGB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001618 virus receptor activity IEA --
GO:0004872 receptor activity IEA --
GO:0005178 integrin binding IEA --
GO:0005515 protein binding IPI 17158881
genes like me logo Genes that share ontologies with ITGB6: view
genes like me logo Genes that share phenotypes with ITGB6: view

Human Phenotype Ontology for ITGB6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ITGB6 Gene

MGI Knock Outs for ITGB6:

Animal Model Products

miRNA for ITGB6 Gene

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ITGB6 Gene

Localization for ITGB6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITGB6 Gene

Membrane; Single-pass type I membrane protein. Cell junction, focal adhesion.

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 ITGB6 gene
Compartment Confidence
plasma membrane 5
extracellular 5
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for ITGB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005925 focal adhesion IEA,IDA 17158881
GO:0008305 integrin complex IEA --
GO:0009897 external side of plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ITGB6: view

Pathways & Interactions for ITGB6 Gene

genes like me logo Genes that share pathways with ITGB6: view

SIGNOR curated interactions for ITGB6 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ITGB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006954 inflammatory response IEA --
GO:0007155 cell adhesion IEA,TAS 2365683
GO:0007160 cell-matrix adhesion IEA --
GO:0007229 integrin-mediated signaling pathway IEA --
GO:0016032 viral process IEA --
genes like me logo Genes that share ontologies with ITGB6: view

Drugs & Compounds for ITGB6 Gene

(1) Drugs for ITGB6 Gene - From: DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
GLPG0187 Pharma 0
genes like me logo Genes that share compounds with ITGB6: view

Transcripts for ITGB6 Gene

Unigene Clusters for ITGB6 Gene

Integrin, beta 6:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ITGB6 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a · 16b
SP1: -
SP2:
SP3: - -
SP4: - - -
SP5: -

Relevant External Links for ITGB6 Gene

GeneLoc Exon Structure for
ITGB6
ECgene alternative splicing isoforms for
ITGB6

Expression for ITGB6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ITGB6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ITGB6 Gene

This gene is overexpressed in Kidney - Cortex (x8.9), Lung (x6.2), Muscle - Skeletal (x5.6), Esophagus - Mucosa (x5.3), and Bladder (x4.4).

Protein differential expression in normal tissues from HIPED for ITGB6 Gene

This gene is overexpressed in Islet of Langerhans (26.5), Serum (18.5), and Plasma (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ITGB6 Gene



NURSA nuclear receptor signaling pathways regulating expression of ITGB6 Gene:

ITGB6

SOURCE GeneReport for Unigene cluster for ITGB6 Gene:

Hs.470399
genes like me logo Genes that share expression patterns with ITGB6: view

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for ITGB6 Gene

Orthologs for ITGB6 Gene

This gene was present in the common ancestor of animals.

Orthologs for ITGB6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ITGB6 34 35
  • 99.37 (n)
dog
(Canis familiaris)
Mammalia ITGB6 34 35
  • 92.55 (n)
cow
(Bos Taurus)
Mammalia ITGB6 34 35
  • 89.79 (n)
rat
(Rattus norvegicus)
Mammalia Itgb6 34
  • 87.11 (n)
mouse
(Mus musculus)
Mammalia Itgb6 34 16 35
  • 86.13 (n)
oppossum
(Monodelphis domestica)
Mammalia ITGB6 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ITGB6 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves ITGB6 34 35
  • 73.23 (n)
lizard
(Anolis carolinensis)
Reptilia ITGB6 35
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itgb6 34
  • 67.1 (n)
zebrafish
(Danio rerio)
Actinopterygii itgb6 34 35
  • 61 (n)
fruit fly
(Drosophila melanogaster)
Insecta mys 36
  • 35 (a)
bgrInt-ngr 36
  • 31 (a)
worm
(Caenorhabditis elegans)
Secernentea pat-3 36
  • 37 (a)
Species where no ortholog for ITGB6 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)
  • 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)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 ITGB6 Gene

ENSEMBL:
Gene Tree for ITGB6 (if available)
TreeFam:
Gene Tree for ITGB6 (if available)

Paralogs for ITGB6 Gene

(8) SIMAP similar genes for ITGB6 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for ITGB6 Gene

genes like me logo Genes that share paralogs with ITGB6: view

Variants for ITGB6 Gene

Sequence variations from dbSNP and Humsavar for ITGB6 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs140015315 Amelogenesis imperfecta 1H (AI1H) [MIM:616221], Pathogenic 160,195,535(+) GGAGG(C/T)GGAGA reference, missense
rs730880298 Amelogenesis imperfecta 1H (AI1H) [MIM:616221], Pathogenic 160,195,376(-) CCAAC(A/C)CTTGC reference, missense
rs730882118 Amelogenesis imperfecta 1H (AI1H) [MIM:616221], Pathogenic 160,172,665(-) TCTCA(A/T)TTTGG reference, missense
rs730880297 Pathogenic 160,126,416(-) GTGAA(C/T)GATGT intron-variant, reference, stop-gained
rs779692470 Pathogenic 160,172,592(+) GTATT(C/T)ATTCT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ITGB6 Gene

Variant ID Type Subtype PubMed ID
nsv956646 CNV deletion 24416366
nsv583497 CNV loss 21841781
nsv528083 CNV loss 19592680
nsv1010774 CNV gain 25217958
nsv1001502 CNV gain 25217958
esv3593131 CNV loss 21293372
esv3593128 CNV loss 21293372
esv3593127 CNV loss 21293372
esv3560439 CNV deletion 23714750
esv2721038 CNV deletion 23290073

Variation tolerance for ITGB6 Gene

Residual Variation Intolerance Score: 57.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.41; 54.42% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ITGB6 Gene

Human Gene Mutation Database (HGMD)
ITGB6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITGB6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITGB6 Gene

Disorders for ITGB6 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ITGB6 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
amelogenesis imperfecta, type ih
  • amelogenesis imperfecta type 1h
hypocalcified amelogenesis imperfecta
  • amelogenesis imperfecta type 3
hypoplastic amelogenesis imperfecta
  • amelogenesis imperfecta type 1
pulmonary emphysema
- elite association - COSMIC cancer census association via MalaCards
Search ITGB6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ITB6_HUMAN
  • Amelogenesis imperfecta 1H (AI1H) [MIM:616221]: A disorder characterized by defective enamel formation, resulting in hypoplastic and hypomineralized tooth enamel that may be rough, pitted, and/or discolored. {ECO:0000269 PubMed:24305999, ECO:0000269 PubMed:24319098}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ITGB6

Genetic Association Database (GAD)
ITGB6
Human Genome Epidemiology (HuGE) Navigator
ITGB6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ITGB6
genes like me logo Genes that share disorders with ITGB6: view

No data available for Genatlas for ITGB6 Gene

Publications for ITGB6 Gene

  1. Chromosomal locations of the genes coding for the integrin beta 6 and beta 7 subunits. (PMID: 1729173) Krissansen G.W. … Watson J.D. (Immunogenetics 1992) 2 3 22 64
  2. I+vI^6- and I+vI^8-integrins serve as interchangeable receptors for HSV gH/gL to promote endocytosis and activation of membrane fusion. (PMID: 24367260) Gianni T. … Campadelli-Fiume G. (PLoS Pathog. 2013) 3 4 64
  3. ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta. (PMID: 24305999) Wang S.K. … Hu J.C. (Hum. Mol. Genet. 2013) 3 4 64
  4. Genetic variants at 2q24 are associated with susceptibility to type 2 diabetes. (PMID: 20418489) Qi L. … . (Hum. Mol. Genet. 2010) 3 46 64
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64

Products for ITGB6 Gene

Sources for ITGB6 Gene

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