PARVB parvin beta
Gene ID: 29780, updated on 17-Jun-2024Gene type: protein coding
Also known as: CGI-56
- See all available tests in GTR for this gene
- Go to complete Gene record for PARVB
- Go to Variation Viewer for PARVB variants
Summary
This gene encodes a member of the parvin family of actin-binding proteins, which play a role in cytoskeleton organization and cell adhesion. These proteins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. This family member binds to alphaPIX and alpha-actinin, and it can inhibit the activity of integrin-linked kinase. This protein also functions in tumor suppression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetic polymorphisms of the human PNPLA3 gene are strongly associated with severity of non-alcoholic fatty liver disease in Japanese. GeneReviews: Not available | |
| Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100. GeneReviews: Not available | |
| Genome-wide association study of hematological and biochemical traits in a Japanese population. GeneReviews: Not available | |
| Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. GeneReviews: Not available | |
| Genome-wide scan revealed that polymorphisms in the PNPLA3, SAMM50, and PARVB genes are associated with development and progression of nonalcoholic fatty liver disease in Japan. GeneReviews: Not available | |
| Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. GeneReviews: Not available |
Genomic context
- Location:
- 22q13.31
- Sequence:
- Chromosome: 22; NC_000022.11 (43999211..44172939)
- Total number of exons:
- 20
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PARVB variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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