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Gene : ITGB4 Homo sapiens

Name  ? integrin subunit beta 4 Cytological Location  17q25.1
Brief Description  integrin subunit beta 4
Description  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]
  • synonyms:
  • NM_000213,
  • HGNC:6158,
  • GP150,
  • integrin, beta 4,
  • CD104,
  • CD104,
  • uc002jpj.4,
  • OTTHUMG00000179814,
  • ITGB4
  • identifiers:
  • 3691,
  • ENSG00000132470,
  • ITGB4

Genome feature

Region: gene ? Length: 36481  
Location: 17:75721339-75757819 Cyto location: 17q25.1


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

3 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

691 SN Ps

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results