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 l... See more...

Aliases for ITGB6 Gene

Aliases for ITGB6 Gene

  • Integrin Subunit Beta 6 2 3 5
  • Integrin, Beta 6 2 3
  • Integrin Beta-6 3 4
  • ITGB6 5
  • 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 Alopecia-Intellectual Disability Syndrome. Among its related pathways are Integrin Pathway and Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include virus receptor activity. An important paralog of this gene is ITGB3.

UniProtKB/Swiss-Prot Summary for ITGB6 Gene

  • Integrin alpha-V:beta-6 (ITGAV:ITGB6) is a receptor for fibronectin and cytotactin (PubMed:17545607, PubMed:17158881). It recognizes the sequence R-G-D in its ligands (PubMed:17545607, PubMed:17158881). Internalisation of integrin alpha-V/beta-6 via clathrin-mediated endocytosis promotes carcinoma cell invasion (PubMed:17545607, PubMed:17158881). ITGAV:ITGB6 acts as a receptor for fibrillin-1 (FBN1) and mediates R-G-D-dependent cell adhesion to FBN1 (PubMed:17158881). Integrin alpha-V:beta-6 (ITGAV:ITGB6) mediates R-G-D-dependent release of transforming growth factor beta-1 (TGF-beta-1) from regulatory Latency-associated peptide (LAP), thereby playing a key role in TGF-beta-1 activation (PubMed:15184403, PubMed:22278742, PubMed:28117447).
  • (Microbial infection) Integrin ITGAV:ITGB6 acts as a receptor for Coxsackievirus A9 and Coxsackievirus B1.
  • (Microbial infection) Integrin ITGAV:ITGB6 acts as a receptor for Herpes simplex virus-1/HHV-1 (PubMed:24367260).

Gene Wiki entry for ITGB6 Gene

Additional gene information for ITGB6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ITGB6 Gene

Genomics for ITGB6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ITGB6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J160251 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 604.4 -52.8 -52764 3.5 CTCF REST TRIM22 ZBTB20 RAD21 SP1 SMARCA5 ESR1 ATF3 ZNF444 ITGB6 piR-38419 ENSG00000285155 lnc-MARCH7-5 RBMS1
GH02J160197 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 600.7 +1.6 1553 3.9 CEBPB ESR1 HNF4A FEZF1 ITGB6 LY75 ENSG00000226266 piR-56883-092 ENSG00000285155 PLA2R1
GH02J160219 Enhancer 1.7 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 39.9 -24.8 -24788 11.8 HNRNPL CREB1 GATAD2A TEAD4 PRDM10 ZNF629 TFE3 NFKBIZ ZHX2 JUND ITGB6 LY75 PLA2R1 RBMS1 CD302 lnc-MARCH7-5 piR-38419 ENSG00000285155
GH02J160268 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 26.9 -70.1 -70118 3.4 HNRNPL GATAD2A CTCF TEAD4 PRDM10 ZNF629 TFE3 IKZF1 ZNF692 ZIC2 ENSG00000285155 LINC02478 ITGB6 MARCHF7 BAZ2B ENSG00000226266 WDSUB1 PLA2R1 piR-35729-033 RBMS1
GH02J160287 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 36.8 -94.6 -94558 15.1 ZSCAN4 POLR2A CEBPB FOS CTCF EP300 ZFHX2 SIN3A JUNB BHLHE40 ITGB6 PLA2R1 RBMS1 CD302 lnc-ITGB6-2 lnc-ITGB6-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ITGB6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ITGB6

Top Transcription factor binding sites by QIAGEN in the ITGB6 gene promoter:
  • Nkx2-5
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3
  • STAT4
  • STAT5A
  • STAT5B
  • STAT6

Genomic Locations for ITGB6 Gene

Genomic Locations for ITGB6 Gene
chr2:160,099,666-160,200,313
(GRCh38/hg38)
Size:
100,648 bases
Orientation:
Minus strand
chr2:160,956,177-161,128,399
(GRCh37/hg19)
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 (PubMed:11807098, PubMed:17545607, PubMed:17158881). Interacts with FLNB (PubMed:11807098). Interacts with HAX1 (PubMed:17545607). ITGAV:ITGB6 interacts with FBN1 (PubMed:17158881). ITGAV:ITGB6 interacts with TGFB1 (PubMed:22278742, PubMed:28117447).
    • (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 Asn48, Asn97, Asn260, Asn387, Asn396, Asn463, Asn471, Asn541, and Asn575
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

No data available for DME Specific Peptides for ITGB6 Gene

Domains & Families for ITGB6 Gene

Gene Families for ITGB6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for ITGB6 Gene

InterPro:
Blocks:
  • Von Willebrand factor type A domain signature
  • Integrin beta, C-terminal
  • Integrin beta subunit signature
ProtoNet:

Suggested Antigen Peptide Sequences for ITGB6 Gene

GenScript: Design optimal peptide antigens:
  • Integrin beta (C9JA97_HUMAN)
  • Integrin beta (E9PEE8_HUMAN)
  • Integrin beta-6 (ITB6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P18564

UniProtKB/Swiss-Prot:

ITB6_HUMAN :
  • Belongs to the integrin beta chain family.
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

UniProtKB/Swiss-Prot Function:
Integrin alpha-V:beta-6 (ITGAV:ITGB6) is a receptor for fibronectin and cytotactin (PubMed:17545607, PubMed:17158881). It recognizes the sequence R-G-D in its ligands (PubMed:17545607, PubMed:17158881). Internalisation of integrin alpha-V/beta-6 via clathrin-mediated endocytosis promotes carcinoma cell invasion (PubMed:17545607, PubMed:17158881). ITGAV:ITGB6 acts as a receptor for fibrillin-1 (FBN1) and mediates R-G-D-dependent cell adhesion to FBN1 (PubMed:17158881). Integrin alpha-V:beta-6 (ITGAV:ITGB6) mediates R-G-D-dependent release of transforming growth factor beta-1 (TGF-beta-1) from regulatory Latency-associated peptide (LAP), thereby playing a key role in TGF-beta-1 activation (PubMed:15184403, PubMed:22278742, PubMed:28117447).
UniProtKB/Swiss-Prot Function:
(Microbial infection) Integrin ITGAV:ITGB6 acts as a receptor for Coxsackievirus A9 and Coxsackievirus B1.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Integrin ITGAV:ITGB6 acts as a receptor for Herpes simplex virus-1/HHV-1 (PubMed:24367260).
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

Phenotypes From GWAS Catalog for ITGB6 Gene

Gene Ontology (GO) - Molecular Function for ITGB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001618 virus receptor activity IEA --
GO:0005178 integrin binding IEA,IBA 21873635
GO:0005515 protein binding IPI 17158881
GO:0038023 signaling receptor activity IEA --
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ITGB6

Clone Products

  • Addgene plasmids for ITGB6

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
cytoskeleton 4
nucleus 4
extracellular 3
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
  • Centrosome (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ITGB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005813 centrosome IDA --
GO:0005886 plasma membrane TAS --
GO:0005925 focal adhesion IBA,IDA 17158881
GO:0008305 integrin complex IEA,TAS 2365683
genes like me logo Genes that share ontologies with ITGB6: view

Pathways & Interactions for ITGB6 Gene

PathCards logo

SuperPathways for ITGB6 Gene

SuperPathway Contained pathways
1 MAPK Erk Pathway
2 Apoptotic Pathways in Synovial Fibroblasts
.66
.65
.64
.62
.57
3 ERK Signaling
.61
.61
.58
.51
.49
4 Integrin Pathway
.67
.67
.56
.56
.38
5 Focal Adhesion
.33
genes like me logo Genes that share pathways with ITGB6: view

Pathways by source for ITGB6 Gene

SIGNOR curated interactions for ITGB6 Gene

Activates:
Is activated by:
Is inactivated 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,IBA 21873635
GO:0007229 integrin-mediated signaling pathway IEA,IBA 21873635
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

mRNA/cDNA for ITGB6 Gene

7 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ITGB6

Clone Products

  • Addgene plasmids for ITGB6

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

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, MaxQB, and MOPED for ITGB6 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ITGB6

SOURCE GeneReport for Unigene cluster for ITGB6 Gene:

Hs.470399

Evidence on tissue expression from TISSUES for ITGB6 Gene

  • Pancreas(4.6)
  • Muscle(4.5)
  • Skin(4.4)
  • Lung(2.6)
  • Kidney(2.3)
  • Intestine(2.3)
  • Heart(2.1)
  • Stomach(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ITGB6 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • skeleton
Regions:
Head and neck:
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
genes like me logo Genes that share expression patterns with ITGB6: view

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 30 31
  • 99.37 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ITGB6 30 31
  • 92.55 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ITGB6 30 31
  • 89.79 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Itgb6 30
  • 87.11 (n)
Mouse
(Mus musculus)
Mammalia Itgb6 30 17 31
  • 86.13 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ITGB6 31
  • 83 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ITGB6 31
  • 83 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ITGB6 30 31
  • 73.23 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ITGB6 31
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia itgb6 30
  • 67.1 (n)
Zebrafish
(Danio rerio)
Actinopterygii itgb6 30 31
  • 61 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta mys 32
  • 35 (a)
&bgr;Int-&ngr; 32
  • 31 (a)
Worm
(Caenorhabditis elegans)
Secernentea pat-3 32
  • 37 (a)
Species where no ortholog for ITGB6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for ITGB6: view image

Paralogs for ITGB6 Gene

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

  • ITB6_HUMAN
  • C9JA97_HUMAN
  • E9PEE8_HUMAN
  • F8WBJ8_HUMAN

Pseudogenes.org Pseudogenes for ITGB6 Gene

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

Variants for ITGB6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ITGB6 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
667250 Uncertain Significance: not specified 160,174,056(-) AT/A FRAMESHIFT_VARIANT
708935 Benign: not provided 160,126,522(-) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT
709023 Likely Benign: not provided 160,195,536(-) G/A SYNONYMOUS_VARIANT
713050 Likely Benign: not provided 160,172,671(-) A/T MISSENSE_VARIANT
713340 Benign: not provided 160,174,088(-) T/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ITGB6 Gene

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

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

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)

Additional Variant Information for ITGB6 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ITGB6 Gene

MalaCards: The human disease database

(9) MalaCards diseases for ITGB6 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
amelogenesis imperfecta, type ih
  • ai1h
alopecia-intellectual disability syndrome
  • alopecia-mental retardation syndrome 1
amelogenesis imperfecta, type iiia
  • ai3a
hypoplastic amelogenesis imperfecta
  • amelogenesis imperfecta type 1
amelogenesis imperfecta
  • ai
- 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.

Additional Disease Information for ITGB6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 GW … Watson JD (Immunogenetics 1992) 2 3 23
  2. Force interacts with macromolecular structure in activation of TGF-β. (PMID: 28117447) Dong X … Springer TA (Nature 2017) 3 4
  3. ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta. (PMID: 24305999) Wang SK … Hu JC (Human molecular genetics 2014) 3 4
  4. αvβ6- and αvβ8-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 pathogens 2013) 3 4
  5. GARP regulates the bioavailability and activation of TGFβ. (PMID: 22278742) Wang R … Springer TA (Molecular biology of the cell 2012) 3 4

Products for ITGB6 Gene

  • Signalway ELISA kits for ITGB6
  • Signalway Proteins for ITGB6

Sources for ITGB6 Gene