Gene Gene information from NCBI Gene database.
Entrez ID 55349
Gene name Choline dehydrogenase
Gene symbol CHDH
Synonyms (NCBI Gene)
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Chromosome 3
Chromosome location 3p21.1
Summary The protein encoded by this gene is a choline dehydrogenase that localizes to the mitochondrion. Variations in this gene can affect susceptibility to choline deficiency. A few transcript variants have been found for this gene, but the full-length nature o
miRNA miRNA information provided by mirtarbase database.
168
miRTarBase ID miRNA Experiments Reference
MIRT016262 hsa-miR-193b-3p Microarray 20304954
MIRT026237 hsa-miR-192-5p Microarray 19074876
MIRT626439 hsa-miR-10a-5p HITS-CLIP 23824327
MIRT626438 hsa-miR-10b-5p HITS-CLIP 23824327
MIRT626437 hsa-miR-500b-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 32814053
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane IBA
GO:0005743 Component Mitochondrial inner membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NE62
Protein name Choline dehydrogenase, mitochondrial (CDH) (CHD) (EC 1.1.99.1)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00732 GMC_oxred_N 41 339 GMC oxidoreductase Domain
PF05199 GMC_oxred_C 429 567 GMC oxidoreductase Domain
Sequence
Sequence length 594
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycine, serine and threonine metabolism
One carbon pool by folate
Metabolic pathways
  Choline catabolism
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Gastric cancer Benign rs115218486 RCV005913358
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Androgen Insensitivity Syndrome Associate 35732329
Breast Neoplasms Associate 18230680
Carcinoma Embryonal Associate 8679447
Carcinoma Squamous Cell Associate 16917549
Choline Deficiency Associate 16816108
Esophageal Neoplasms Associate 36588458
Fibrocartilaginous embolism Associate 39953636
Gastrointestinal Stromal Tumors Associate 24133624
Intervertebral Disc Degeneration Associate 39953636
Multiple Organ Failure Associate 16816108