Gene Gene information from NCBI Gene database.
Entrez ID 84310
Gene name Cholesin
Gene symbol CHLSN
Synonyms (NCBI Gene)
C7orf50YCR016W
Chromosome 7
Chromosome location 7p22.3
miRNA miRNA information provided by mirtarbase database.
75
miRTarBase ID miRNA Experiments Reference
MIRT852531 hsa-miR-1301 CLIP-seq
MIRT852532 hsa-miR-18a CLIP-seq
MIRT852533 hsa-miR-18b CLIP-seq
MIRT852534 hsa-miR-3665 CLIP-seq
MIRT852535 hsa-miR-3937 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674
GO:0005179 Function Hormone activity IDA 38503280
GO:0005515 Function Protein binding IPI 25416956, 32296183, 32814053
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IDA 38503280
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
621174 22421 ENSG00000146540
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BRJ6
Protein name Protein cholesin
Protein function Hormone secreted from the intestine in response to cholesterol, where it acts to inhibit cholesterol synthesis in the liver and VLDL secretion,leading to a reduction in circulating cholesterol levels. Acts through binding to its receptor, GPR146
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10180 WKF 104 166 WKF domain Domain
Tissue specificity TISSUE SPECIFICITY: Secreted from the instestine, secretion is induced by feeding and cholesterol absorption. {ECO:0000269|PubMed:38503280}.
Sequence
MAKQKRKVPEVTEKKNKKLKKASAEGPLLGPEAAPSGEGAGSKGEAVLRPGLDAEPELSP
EEQRVLERKLKKERKKEERQRLREAGLVAQHPPARRSGAELALDYLCRWAQKHKNWRFQK
TRQTWLLLHMYDSDKVPDEHFSTLLAYLEGLQGRARELTVQKAEAL
MRELDEEGSDPPLP
GRAQRIRQVLQLLS
Sequence length 194
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIFFUSE GASTRIC ADENOCARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GASTRIC CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 30107520 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 30107520
★☆☆☆☆
Found in Text Mining only
Pituitary Neoplasms Pituitary neoplasm Pubtator 35432200 Associate
★☆☆☆☆
Found in Text Mining only
Ventricular Dysfunction Left Ventricular dysfunction Pubtator 33100131 Associate
★☆☆☆☆
Found in Text Mining only