1. Gene
  2. ITGB6 - integrin subunit beta 6 Gene

ITGB6 - integrin subunit beta 6 Gene

Homo sapiens

Also known as AI1H

Gene ID: 3694 | Gene type: protein coding

About ITGB6

Cytogenetic location: 2q24.2 Genomic coordinates (GRCh38): 2:160,099,671-160,200,272 (from NCBI)

This gene has 8 transcripts (splice variants), 203 orthologues, 8 paralogues and is associated with 4 phenotypes. Biased expression in lung (RPKM 25.8), urinary bladder (RPKM 17.2) and 12 other tissues.

Summary

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]

ITGB6 Products(7)

mRNA Protein Name
NM_000888.5 NP_000879.2 integrin beta-6 isoform a precursor
NM_001282353.2 NP_001269282.1 integrin beta-6 isoform a precursor
NM_001282354.2 NP_001269283.1 integrin beta-6 isoform b precursor
NM_001282355.2 NP_001269284.1 integrin beta-6 isoform c precursor
NM_001282388.2 NP_001269317.1 integrin beta-6 isoform d
NM_001282389.2 NP_001269318.1 integrin beta-6 isoform e
NM_001282390.2 NP_001269319.1 integrin beta-6 isoform f
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
17158881 GOA
Biological Process GO Annotation Evidence Reference Source
involved in cell adhesion mediated by integrin IDA
IDA: Inferred from direct assay
17158881 GOA
Cellular Component GO Annotation Evidence Reference Source
located in focal adhesion IDA
IDA: Inferred from direct assay
17158881 GOA
part of integrin alphav-beta6 complex IDA
IDA: Inferred from direct assay
22278742 GOA
part of integrin alphav-beta6 complex IPI
IPI: Inferred from physical interaction
25383667 GOA
part of receptor complex IDA
IDA: Inferred from direct assay
23382219 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ITGB6 Protein Structure

Integrin_beta

Integrin_beta: Integrin beta chain VWA domain (30 - 454)

EGF_2

EGF_2: EGF-like domain (549 - 574)

Integrin_B_tail

Integrin_B_tail: Integrin beta tail domain (624 - 707)

Integrin_b_cyt

Integrin_b_cyt: Integrin beta cytoplasmic domain (731 - 776)

  • 0
  • 200
  • 400
  • 600
  • 788 a.a.
Protein Preferred Names Protein Names

integrin beta-6

integrin, beta 6

Recombinant ITGB6 Proteins

Cat. No. Product Name Accession Purity
HY-P73867 Integrin alpha V beta 6 Protein, Human (HEK293, Flag-His) P06756-1 (F31-V992)&P18564-1 (G22-N707) ≥95%
HY-P77721 Integrin alpha V beta 6 Protein, Human (HEK293, His-Avi) P06756-1 (F31-V992)&P18564-1 (G22-N707) ≥95%
HY-P700768 ITGB6 Protein, Human (HEK293, His) P18564-1 (G22-N707) ≥95%

Related Diseases

Diseases Alias
Amelogenesis Imperfecta, Type Ih

AI1H

Amelogenesis Imperfecta Type 1h

Amelogenesis Imperfecta Type Ih

Amelogenesis Imperfecta 1h

Amelogenesis Imperfecta, Type 1h

Alopecia-Mental Retardation Syndrome 1

APMR1

Alopecia-Intellectual Disability Syndrome 1

Amr Syndrome

Alopecia-Intellectual Disability Syndrome

Amr Syndrome 1

Alopecia With Severe Intellectual Deficit

Apmr

Alopecia Intellectual Disbility Syndrome 1

Perniola-Krajewska-Carnevale Syndrome

Alopecia - Intellectual Disability Syndrome

Alopecia With Mental Retardation Syndrome 1

Perniola Krajewska Carnevale Syndrome

Amelogenesis Imperfecta, Type Iiia

Ai3

Adhcai

Amelogenesis Imperfecta Type 3

AI3A

Amelogenesis Imperfecta, Type Iii

Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Dominant

Amelogenesis Imperfecta Type 3a

Amelogenesis Imperfecta Hypomineralization Type

Amelogenesis Imperfecta Type Iii

Hypocalcified Amelogenesis Imperfecta

Amelogenesis Imperfecta, Type 3

Amelogenesis Imperfecta, Hypomineralization Type

Autosomal Dominant Amelogenesis Imperfecta Hypocalcification Type

Amelogenesis Imperfecta 3a

Amelogenesis Imperfecta Hypocalcification Type Autosomal Dominant

Hypoplastic Amelogenesis Imperfecta

Amelogenesis Imperfecta Type 1

Amelogenesis Imperfecta, Hypoplastic Type

Amelogenesis Imperfecta Local Hypoplastic Form

Amelogenesis Imperfecta

Ai

Congenital Enamel Hypoplasia

Al - [Amelogenesis Imperfecta]

Mouth Disease

Mouth Diseases

Mouth Disorders

Pulmonary Emphysema
Premature Ovarian Failure 19

POF19

Primary Ovarian Insufficiency 19

Poi19

Ovarian Failure, Premature, Type 19

Bullous Keratopathy

Bk - [Bullous Keratopathy]

Arrhythmogenic Right Ventricular Cardiomyopathy

Arrhythmogenic Right Ventricular Dysplasia

Arvc

Arvd

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Arvc Cardiomyopathy

Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia

Arvd/C

Right Ventricular Dysplasia, Arrhythmogenic

Ventricular Dysplasia, Right, Arrhythmogenic

Cardiomyopathy, Ventricular, Right, Arrhythmogenic

Dysplasia, Arrhythmogenic Right Ventricular

Cholangiolocellular Carcinoma
Epidermolysis Bullosa, Junctional 5b, With Pyloric Atresia

Junctional Epidermolysis Bullosa With Pyloric Atresia

Carmi Syndrome

Epidermolysis Bullosa, Junctional, With Pyloric Atresia

Jeb-Pa

JEB5B

Epidermolysis Bullosa Junctionalis With Pyloric Atresia

Aplasia Cutis Congenita With Gastrointestinal Atresia

Epidermolysis Bullosa, Junctional, With Pyloric Atresia And Aplasia Cutis Congenita

Eb-Pa-Acc

Junctional Epidermolysis Bullosa-Pyloric Atresia Syndrome

Jeb With Pyloric Atresia

Epidermolysis Bullosa Letalis, With Pyloric Atresia

Pa-Jeb

Epidermolysis Bullosa With Pyloric Atresia

Junctional Epidermolysis Bullosa

Epidermolysis Bullosa, Junctional

Jeb

Epidermolysis Bullosa Atrophicans

Congenital Junctional Epidermolysis Bullosa

Epidermolysis Bullosa Junctional

Junctional Eb - [Epidermolysis Bullosa]

Jeb - [Junctional Epidermolysis Bullosa]

Lucidolytic Epidermolysis Bullosa

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus ITGB6 RGD RGD:1303119
Bos taurus ITGB6 VGNC VGNC:30331
Felis catus ITGB6 VGNC VGNC:67855
Macaca mulatta ITGB6 VGNC VGNC:73789
Canis familiaris ITGB6 VGNC VGNC:42141
Mus musculus ITGB6 MGD MGI:96615
Others ITGB6 NCBI