CASS4 Cas scaffold protein family member 4
Gene ID: 57091, updated on 2-Nov-2024Gene type: protein coding
Also known as: CAS4; HEFL; HEPL; C20orf32
- See all available tests in GTR for this gene
- Go to complete Gene record for CASS4
- Go to Variation Viewer for CASS4 variants
Summary
Enables protein tyrosine kinase binding activity. Involved in several processes, including positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; positive regulation of protein tyrosine kinase activity; and positive regulation of substrate adhesion-dependent cell spreading. Located in cytoplasm and focal adhesion. [provided by Alliance of Genome Resources, Nov 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium. GeneReviews: Not available | |
| Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. GeneReviews: Not available |
Genomic context
- Location:
- 20q13.31
- Sequence:
- Chromosome: 20; NC_000020.11 (56412036..56460382)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CASS4 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
- Variation ViewerRelated Variants
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