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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CARTPT
CART prepropeptide
Chromosome 5 · 5q13.2
NCBI Gene: 9607Ensembl: ENSG00000164326.5HGNC: HGNC:24323UniProt: Q16568
86PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
intracellular glucose homeostasispositive regulation of epinephrine secretionpositive regulation of transmission of nerve impulsesecretory granulepleural empyemapneumothoraxobesityVon Willebrand disease
✦AI Summary

CARTPT encodes the cocaine- and amphetamine-regulated transcript prepropeptide, which functions as a multifaceted regulatory peptide with roles in metabolism, bone development, and neural signaling. In pancreatic islets, CART increases insulin secretion, reduces glucagon secretion, and protects beta cells against apoptosis while promoting proliferation, with expression levels elevated in Type 2 diabetes patients 1. During skeletal development, CARTPT expression is normally suppressed by the chr5 remodeling protein ATRX, and aberrant CARTPT upregulation impairs osteoclast differentiation by decreasing the RANKL/OPG ratio 2. The gene shows significant interactions with dietary quality indices, affecting metabolic parameters including glucose homeostasis, insulin sensitivity, and lipid profiles in obese individuals 34. Genetic variants in CARTPT, particularly rs2239670, mediate metabolic syndrome risk through glycemic index pathways 5. In cardiovascular disease, CARTPT-expressing smooth muscle cells are enriched in male thoracic aortic aneurysms, where CART promotes osteochondrogenic differentiation and vascular calcification 6. Additionally, CARTPT plays a role in addiction-related behaviors, with epigenetic modifications at the CARTPT locus influencing cocaine memory acquisition and extinction 7.

Sources cited
1
CART increases insulin secretion, reduces glucagon secretion, protects beta cells, and is elevated in T2D
PMID: 34896575
2
ATRX suppresses CARTPT expression during skeletal development; CARTPT affects osteoclast differentiation
PMID: 39744954
3
CARTPT gene polymorphism interacts with diet quality indices to affect metabolic parameters
PMID: 31918705
4
CARTPT variants interact with DASH and Mediterranean diet scores affecting glucose and insulin
PMID: 34876220
5
CARTPT rs2239670 mediates metabolic syndrome risk through glycemic index pathways
PMID: 36404325
6
CARTPT-expressing SMCs enriched in male aortic aneurysms promote osteochondrogenic differentiation
PMID: 37823268
7
CARTPT chromatin modifications influence cocaine memory acquisition and extinction
PMID: 41332651
Disease Associationsⓘ20
pleural empyemaOpen Targets
0.20Weak
pneumothoraxOpen Targets
0.20Weak
obesityOpen Targets
0.17Weak
Von Willebrand diseaseOpen Targets
0.16Weak
amblyopiaOpen Targets
0.14Weak
psoriatic arthritisOpen Targets
0.12Weak
pheochromocytoma/paraganglioma syndrome 1Open Targets
0.12Weak
MODYOpen Targets
0.09Suggestive
diabetes mellitusOpen Targets
0.07Suggestive
type 1 diabetes mellitusOpen Targets
0.07Suggestive
hyperinsulinism due to INSR deficiencyOpen Targets
0.06Suggestive
hyperinsulinemic hypoglycemia, familial, 2Open Targets
0.06Suggestive
hyperinsulinemic hypoglycemia, familial, 1Open Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
hyperinsulinism due to glucokinase deficiencyOpen Targets
0.06Suggestive
type 2 diabetes mellitusOpen Targets
0.06Suggestive
breast cancerOpen Targets
0.06Suggestive
hypoinsulinemic hypoglycemia and body hemihypertrophyOpen Targets
0.06Suggestive
obesity due to melanocortin 4 receptor deficiencyOpen Targets
0.06Suggestive
exercise-induced hyperinsulinismOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ECI2Protein interaction98%GHRLProtein interaction98%POMCProtein interaction98%HSDL2Protein interaction89%AGRPProtein interaction88%HCRTProtein interaction88%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
1%
Ovary
1%
Liver
0%
Lung
0%
Heart
0%
Gene Interaction Network
Click a node to explore
CARTPTECI2GHRLPOMCHSDL2AGRPHCRT
PROTEIN STRUCTURE
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PDB1HY9 · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.96LoF Tolerant
pLIⓘ
0.13Tolerant
Observed/Expected LoF0.48 [0.26–0.96]
RankingsWhere CARTPT stands among ~20K protein-coding genes
  • #5,532of 20,598
    Most Researched86
  • #8,980of 17,882
    Most Constrained (LOEUF)0.96
Genes detectedCARTPT
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Single-Molecule Spatial Transcriptomics of Human Thoracic Aortic Aneurysms Uncovers Calcification-Related
PMID: 37823268
Arterioscler Thromb Vasc Biol · 2023
1.00
2
Cocaine and amphetamine-regulated transcript prepropeptide gene (CARTPT) polymorphism interacts with Diet Quality Index-International (DQI-I) and Healthy Eating Index (HEI) to affect hypothalamic hormones and cardio-metabolic risk factors among obese individuals.
PMID: 31918705
J Transl Med · 2020
0.90
3
ATRX silences Cartpt expression in osteoblastic cells during skeletal development.
PMID: 39744954
J Clin Invest · 2025
0.80
4
Hypothalamic-pituitary hormones will be affected by the interaction between 5q13-14-rs2239670 (CARTPT) gene variants and diet in different obesity phenotypes.
PMID: 34876220
BMC Res Notes · 2021
0.70
5
Dietary glycemic index and glycemic load mediate the effect of CARTPT rs2239670 gene polymorphism on metabolic syndrome and metabolic risk factors among adults with obesity.
PMID: 36404325
BMC Endocr Disord · 2022
0.60