CARTPT CART prepropeptide
Gene ID: 9607, updated on 28-Oct-2024Gene type: protein coding
Also known as: CART
- See all available tests in GTR for this gene
- Go to complete Gene record for CARTPT
- Go to Variation Viewer for CARTPT variants
Summary
This gene encodes a preproprotein that is proteolytically processed to generate multiple biologically active peptides. These peptides play a role in appetite, energy balance, maintenance of body weight, reward and addiction, and the stress response. Expression of a similar gene transcript in rodents is upregulated following administration of cocaine and amphetamine. Mutations in this gene are associated with susceptibility to obesity in humans. [provided by RefSeq, Feb 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study of HLA-DQB1*06:02 negative essential hypersomnia. GeneReviews: Not available | |
| Inherited obesity | See labs |
Genomic context
- Location:
- 5q13.2
- Sequence:
- Chromosome: 5; NC_000005.10 (71719275..71721045)
- Total number of exons:
- 3
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CARTPT variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CARTPT database
- 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
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.