ITGB6
Integrin beta-6
Also known as: ITB6_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P18564
- Gene
- ITGB6
- Ensembl
- ENSG00000115221
- Chromosome
- 2
- Canonical length
- 788 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted membrane proteins
- Subcellular location
- Nucleoplasm,Cell Junctions,Centrosome,Acrosome,Connecting piece,Mid piece,Principal piece,End piece
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
788 residues, UniProt reviewed canonical sequence.
>P18564|ITGB6
1 MGIELLCLFF LFLGRNDHVQ GGCALGGAET CEDCLLIGPQ CAWCAQENFT HPSGVGERCD
61 TPANLLAKGC QLNFIENPVS QVEILKNKPL SVGRQKNSSD IVQIAPQSLI LKLRPGGAQT
121 LQVHVRQTED YPVDLYYLMD LSASMDDDLN TIKELGSRLS KEMSKLTSNF RLGFGSFVEK
181 PVSPFVKTTP EEIANPCSSI PYFCLPTFGF KHILPLTNDA ERFNEIVKNQ KISANIDTPE
241 GGFDAIMQAA VCKEKIGWRN DSLHLLVFVS DADSHFGMDS KLAGIVIPND GLCHLDSKNE
301 YSMSTVLEYP TIGQLIDKLV QNNVLLIFAV TQEQVHLYEN YAKLIPGATV GLLQKDSGNI
361 LQLIISAYEE LRSEVELEVL GDTEGLNLSF TAICNNGTLF QHQKKCSHMK VGDTASFSVT
421 VNIPHCERRS RHIIIKPVGL GDALELLVSP ECNCDCQKEV EVNSSKCHHG NGSFQCGVCA
481 CHPGHMGPRC ECGEDMLSTD SCKEAPDHPS CSGRGDCYCG QCICHLSPYG NIYGPYCQCD
541 NFSCVRHKGL LCGGNGDCDC GECVCRSGWT GEYCNCTTST DSCVSEDGVL CSGRGDCVCG
601 KCVCTNPGAS GPTCERCPTC GDPCNSKRSC IECHLSAAGQ AREECVDKCK LAGATISEEE
661 DFSKDGSVSC SLQGENECLI TFLITTDNEG KTIIHSINEK DCPKPPNIPM IMLGVSLAIL
721 LIGVVLLCIW KLLVSFHDRK EVAKFEAERS KAKWQTGTNP LYRGSTSTFK NVTYKHREKQ
781 KVDLSTDCLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ITGB6 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.32
- Highest tissue expression
- 75 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 75 nTPM
- tongue: 60 nTPM
- lung: 43 nTPM
- urinary bladder: 42 nTPM
- kidney: 39 nTPM
- parathyroid gland: 30 nTPM
Single-cell type
- papillary tip epithelial cells: 466 nCPM
- loop of henle epithelial cells: 447 nCPM
- renal connecting tubule cells: 346 nCPM
- epididymal basal cells: 279 nCPM
- urothelial cells: 273 nCPM
- distal convoluted tubule cells: 246 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- amygdala: 0 nTPM
- basal ganglia: 0 nTPM
- cerebellum: 0 nTPM
- cerebral cortex: 0 nTPM
- choroid plexus: 0 nTPM
- hippocampal formation: 0 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ITGB6.
Disease | AllUniProt
Conditions ITGB6 is implicated in, by any mechanism.
- Amelogenesis imperfecta 1H (AI1H) MIM:616221
Disease | GeneticClinVar
11 pathogenic / likely-pathogenic of 224 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Amelogenesis imperfecta type 1H
- Adolescent alopeciam dentogingival abnormalitites and intellectual disability
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.23
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.69
- DepMap mean gene effect
- -0.07
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- amelogenesis
- bone development
- bronchiole development
- cell adhesion
- cell adhesion mediated by integrin
- cell migration
- cell morphogenesis
- cell-cell adhesion
- cell-matrix adhesion
- cellular response to ionizing radiation
- enamel mineralization
- hard palate development
- inflammatory response
- integrin-mediated signaling pathway
- Langerhans cell differentiation
- lung alveolus development
- memory T cell differentiation
- phospholipid homeostasis
- response to virus
- skin development
- surfactant homeostasis
- transforming growth factor beta production
- transforming growth factor beta receptor signaling pathway
- wound healing
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Integrin beta subunit, VWA domain
- Integrin beta subunit, tail
- Epidermal growth factor-like domain, extracellular
- Integrin beta subunit, cytoplasmic domain
- Integrin beta subunit
- PSI domain
- Integrin domain superfamily
- Integrin beta N-terminal
- Integrin beta tail domain superfamily
- von Willebrand factor A-like domain superfamily
- Integrin beta, epidermal growth factor-like domain 1
- Integrin beta, epidermal growth factor-like domain 2
- Integrins beta, I-EGF domain, conserved site
- Integrin beta chain VWA domain
- Integrin beta tail domain
- EGF-like domain
- Integrin beta cytoplasmic domain
- Integrin plexin domain
- Integrin beta epidermal growth factor like domain 1
- Integrin EGF domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ITGB6 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ITGB6 as an antibody target. Whether an autoantibody or antibody against ITGB6 could matter depends on whether native ITGB6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ITGB6 is annotated at the cell surface, where native ITGB6 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label ITGB6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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