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Aliases for CHDH Gene

Aliases for CHDH Gene

  • Choline Dehydrogenase 2 3 5
  • EC 4 63
  • CDH 3 4
  • CHD 3 4

External Ids for CHDH Gene

Previous GeneCards Identifiers for CHDH Gene

  • GC03M053019
  • GC03M053706
  • GC03M053808
  • GC03M053826

Summaries for CHDH Gene

Entrez Gene Summary for CHDH Gene

  • 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 of only one has been characterized to date. [provided by RefSeq, Dec 2010]

GeneCards Summary for CHDH Gene

CHDH (Choline Dehydrogenase) is a Protein Coding gene. Diseases associated with CHDH include Choline Deficiency Disease and Tooth Agenesis. Among its related pathways are Glycerophospholipid biosynthesis and Metabolism. GO annotations related to this gene include oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen and oxidoreductase activity, acting on CH-OH group of donors.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHDH Gene

Genomics for CHDH Gene

Regulatory Elements for CHDH Gene

Enhancers for CHDH Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CHDH on UCSC Golden Path with GeneCards custom track

Promoters for CHDH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CHDH on UCSC Golden Path with GeneCards custom track

Genomic Location for CHDH Gene

53,812,335 bp from pter
53,846,393 bp from pter
34,059 bases
Minus strand

Genomic View for CHDH Gene

Genes around CHDH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHDH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHDH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHDH Gene

Proteins for CHDH Gene

  • Protein details for CHDH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Choline dehydrogenase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • Q9NY17

    Protein attributes for CHDH Gene

    594 amino acids
    Molecular mass:
    65358 Da
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    No Data Available

neXtProt entry for CHDH Gene

Proteomics data for CHDH Gene at MOPED

Selected DME Specific Peptides for CHDH Gene

Post-translational modifications for CHDH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CHDH Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for CHDH Gene

Suggested Antigen Peptide Sequences for CHDH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the GMC oxidoreductase family.
  • Belongs to the GMC oxidoreductase family.
genes like me logo Genes that share domains with CHDH: view

No data available for Gene Families for CHDH Gene

Function for CHDH Gene

Molecular function for CHDH Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Choline + acceptor = betaine aldehyde + reduced acceptor.

Enzyme Numbers (IUBMB) for CHDH Gene

Gene Ontology (GO) - Molecular Function for CHDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase activity IEA --
GO:0050660 flavin adenine dinucleotide binding IEA --
genes like me logo Genes that share ontologies with CHDH: view
genes like me logo Genes that share phenotypes with CHDH: view

Animal Models for CHDH Gene

MGI Knock Outs for CHDH:

Animal Model Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CHDH Gene

Localization for CHDH Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHDH Gene

Mitochondrion inner membrane.

Subcellular locations from

Jensen Localization Image for CHDH Gene COMPARTMENTS Subcellular localization image for CHDH gene
Compartment Confidence
mitochondrion 5
cytosol 1
nucleus 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for CHDH Gene

Pathways & Interactions for CHDH Gene

genes like me logo Genes that share pathways with CHDH: view

UniProtKB/Swiss-Prot Q8NE62-CHDH_HUMAN

  • Pathway: Amine and polyamine biosynthesis; betaine biosynthesis via choline pathway; betaine aldehyde from choline (cytochrome c reductase route): step 1/1.

Gene Ontology (GO) - Biological Process for CHDH Gene


No data available for SIGNOR curated interactions for CHDH Gene

Drugs & Compounds for CHDH Gene

(6) Drugs for CHDH Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Choline Approved Nutra Enzyme, substrate 139
FAD Approved Pharma 0
spermine Approved Nutra Full agonist, Agonist 0
putrescine Experimental Pharma Antagonist, Pore Blocker 0
spermidine Experimental Pharma Antagonist, Pore Blocker 0

(3) Additional Compounds for CHDH Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Betaine aldehyde
  • (formylmethyl)trimethyl-Ammonium
  • (Formylmethyl)trimethylammonium
  • Betaine aldehyde
  • BTL
  • Glycine betaine aldehyde
  • N'-Acetylspermine
  • N'-Monoacetylspermine
  • N(1)-Acetylspermine
  • N-(3-((4-((3-Aminopropyl)amino)butyl)amino)propyl)-Acetamide
  • N-Acetylspermine
  • -1,3-propanediamine
  • 1,7-Diamino-4-azaheptane
  • 3, 3'-Diaminodipropylamine
  • 3, {3'-Iminobis[propylamine]}
  • 3,3'-Diamino-Dipropylamine
genes like me logo Genes that share compounds with CHDH: view

Transcripts for CHDH Gene

Unigene Clusters for CHDH Gene

Choline dehydrogenase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CHDH Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d ^ 6 ^ 7a · 7b ^ 8 ^ 9
SP1: -
SP2: -

Relevant External Links for CHDH Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CHDH Gene

mRNA expression in normal human tissues for CHDH Gene

mRNA differential expression in normal tissues according to GTEx for CHDH Gene

This gene is overexpressed in Liver (x7.0) and Kidney - Cortex (x5.9).

Protein differential expression in normal tissues from HIPED for CHDH Gene

This gene is overexpressed in Salivary gland (22.4), Kidney (19.1), and Liver (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CHDH Gene

SOURCE GeneReport for Unigene cluster for CHDH Gene Hs.126688

genes like me logo Genes that share expression patterns with CHDH: view

Protein tissue co-expression partners for CHDH Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for CHDH Gene

Orthologs for CHDH Gene

This gene was present in the common ancestor of animals.

Orthologs for CHDH Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia CHDH 35
  • 87.69 (n)
  • 89.71 (a)
  • 89 (a)
(Canis familiaris)
Mammalia CHDH 35
  • 88.59 (n)
  • 89.55 (a)
  • 73 (a)
(Mus musculus)
Mammalia Chdh 35
  • 83.14 (n)
  • 83.93 (a)
Chdh 16
Chdh 36
  • 82 (a)
(Pan troglodytes)
Mammalia CHDH 35
  • 99.49 (n)
  • 99.33 (a)
  • 99 (a)
(Rattus norvegicus)
Mammalia Chdh 35
  • 83 (n)
  • 85.19 (a)
(Monodelphis domestica)
Mammalia CHDH 36
  • 77 (a)
(Ornithorhynchus anatinus)
Mammalia CHDH 36
  • 83 (a)
(Gallus gallus)
Aves CHDH 35
  • 67.35 (n)
  • 77.57 (a)
  • 74 (a)
(Anolis carolinensis)
Reptilia CHDH 36
  • 70 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.31969 35
(Danio rerio)
Actinopterygii chdh 35
  • 70.39 (n)
  • 74.29 (a)
chdh 36
  • 72 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG12398 37
  • 35 (a)
CG12539 37
  • 34 (a)
CG6142 37
  • 36 (a)
CG9503 37
  • 35 (a)
CG9509 37
  • 31 (a)
CG9512 37
  • 33 (a)
CG9514 37
  • 37 (a)
CG9517 37
  • 36 (a)
CG9518 37
  • 38 (a)
CG9519 37
  • 35 (a)
CG9521 37
  • 41 (a)
CG9522 37
  • 34 (a)
Gld 37
  • 34 (a)
ninaG 37
  • 27 (a)
CG12398 36
  • 32 (a)
CG12539 36
  • 29 (a)
CG6142 36
  • 32 (a)
CG9503 36
  • 32 (a)
CG9509 36
  • 27 (a)
CG9512 36
  • 30 (a)
CG9514 36
  • 28 (a)
CG9517 36
  • 24 (a)
CG9518 36
  • 31 (a)
CG9519 36
  • 31 (a)
CG9521 36
  • 31 (a)
CG9522 36
  • 31 (a)
Eo 36
  • 25 (a)
Gld 36
  • 30 (a)
ninaG 36
  • 26 (a)
(Caenorhabditis elegans)
Secernentea C34C6.4 37
  • 55 (a)
C34C6.4 35
  • 52.98 (n)
  • 57.82 (a)
C34C6.4 36
  • 52 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5658 36
  • 67 (a)
Species with no ortholog for CHDH:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CHDH Gene

Gene Tree for CHDH (if available)
Gene Tree for CHDH (if available)

Paralogs for CHDH Gene

No data available for Paralogs for CHDH Gene

Variants for CHDH Gene

Sequence variations from dbSNP and Humsavar for CHDH Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs9001 - 53,823,890(-) GGACG(A/C)GTACA reference, missense
rs34974961 - 53,818,982(+) GGGGA(C/T)TGGCA reference, synonymous-codon, missense
rs12676 - 53,823,776(-) CGTGC(G/T)CGCGG reference, missense
rs2276838 -- 53,824,137(+) CCTGC(C/T)GGGAC intron-variant
rs2289206 -- 53,844,425(-) CATGG(A/G)GTCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CHDH Gene

Variant ID Type Subtype PubMed ID
nsv876803 CNV Loss 21882294
dgv283n21 CNV Loss 19592680
nsv876804 CNV Gain 21882294
nsv876805 CNV Loss 21882294

Variation tolerance for CHDH Gene

Residual Variation Intolerance Score: 12% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.41; 88.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHDH Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHDH Gene

Disorders for CHDH Gene

MalaCards: The human disease database

(2) MalaCards diseases for CHDH Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
choline deficiency disease
  • choline deficiency
tooth agenesis
  • familial tooth agenesis
- elite association - COSMIC cancer census association via MalaCards
Search CHDH in MalaCards View complete list of genes associated with diseases

Relevant External Links for CHDH

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CHDH: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CHDH Gene

Publications for CHDH Gene

  1. Common genetic polymorphisms affect the human requirement for the nutrient choline. (PMID: 16816108) da Costa K.A. … Zeisel S.H. (FASEB J. 2006) 3 23 25 48 67
  2. Cystathionine beta-synthase 844Ins68 polymorphism is not associated with the levels of homocysteine and cysteine in an Indian population. (PMID: 20175737) Kumar J. … Sengupta S. (Biomarkers 2010) 3 23
  3. Single nucleotide polymorphisms in homocysteine metabolism pathway genes: association of CHDH A119C and MTHFR C677T with hyperhomocysteinemia. (PMID: 20031640) Kumar J. … Sengupta S. (Circ Cardiovasc Genet 2009) 3 23
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. Choline dehydrogenase interacts with SQSTM1/p62 to recruit LC3 and stimulate mitophagy. (PMID: 25483962) Park S. … Jung Y.K. (Autophagy 2014) 3

Products for CHDH Gene

Sources for CHDH Gene