CAMTA1 calmodulin binding transcription activator 1
Gene ID: 23261, updated on 3-Apr-2024Gene type: protein coding
Also known as: CECBA; CANPMR
- See all available tests in GTR for this gene
- Go to complete Gene record for CAMTA1
- Go to Variation Viewer for CAMTA1 variants
Summary
The protein encoded by this gene contains a CG1 DNA-binding domain, a transcription factor immunoglobulin domain, ankyrin repeats, and calmodulin-binding IQ motifs. The encoded protein is thought to be a transcription factor and may be a tumor suppressor. However, a translocation event is sometimes observed between this gene and the WWTR1 gene, with the resulting WWTR1-CAMTA1 oncoprotein leading to epithelioid hemangioendothelioma, a malignant vascular cancer. [provided by RefSeq, Mar 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Cerebellar dysfunction with variable cognitive and behavioral abnormalities | See labs |
| Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD. GeneReviews: Not available | |
| Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. GeneReviews: Not available | |
| Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu GeneReviews: Not available | |
| Genome-wide association study of periodontal pathogen colonization. GeneReviews: Not available | |
| Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2017-12-14) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2017-12-14) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 1p36.31-p36.23
- Sequence:
- Chromosome: 1; NC_000001.11 (6785454..7769706)
- Total number of exons:
- 42
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CAMTA1 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
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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