CIB1 calcium and integrin binding 1
Gene ID: 10519, updated on 2-Nov-2024Gene type: protein coding
Also known as: CIB; EV3; CIBP; KIP1; PRKDCIP; SIP2-28
- See all available tests in GTR for this gene
- Go to complete Gene record for CIB1
- Go to Variation Viewer for CIB1 variants
Summary
This gene encodes a member of the EF-hand domain-containing calcium-binding superfamily. The encoded protein interacts with many other proteins, including the platelet integrin alpha-IIb-beta-3, DNA-dependent protein kinase, presenilin-2, focal adhesion kinase, p21 activated kinase, and protein kinase D. The encoded protein may be involved in cell survival and proliferation, and is associated with several disease states including cancer and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Epidermodysplasia verruciformis, susceptibility to, 3 | not available |
Genomic context
- Location:
- 15q26.1
- Sequence:
- Chromosome: 15; NC_000015.10 (90229975..90265759, complement)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CIB1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- 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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