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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CHDH Gene

protein-coding   GIFtS: 60
GCID: GC03M053850

Choline Dehydrogenase

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Choline Dehydrogenase1 2
CDH2 3
CHD2 3
EC 1.1.99.13 8
Choline Dehydrogenase, Mitochondrial2

External Ids:    HGNC: 242881   Entrez Gene: 553492   Ensembl: ENSG000000163917   UniProtKB: Q8NE623   

Export aliases for CHDH gene to outside databases

Previous GC identifers: GC03M053019 GC03M053706 GC03M053808 GC03M053826


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 orofacial cleft, and tooth agenesis, and among its related super-pathways are Metabolism. GO annotations related to this gene include flavin adenine dinucleotide binding and choline dehydrogenase activity.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.2  NT_022517.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CHDH gene promoter:
         Tal-1beta   ITF-2   NF-kappaB   NF-kappaB1   GATA-2   YY1   c-Ets-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHDH promoter sequence
   Search SABiosciences Chromatin IP Primers for CHDH

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHDH


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21.1   Ensembl cytogenetic band:  3p21.1   HGNC cytogenetic band: 3p21

CHDH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHDH gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M053850:  view genomic region     (about GC identifiers)

Start:
53,850,324 bp from pter      End:
53,880,420 bp from pter
Size:
30,097 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CHDH_HUMAN, Q8NE62 (See protein sequence)
Recommended Name: Choline dehydrogenase, mitochondrial precursor  
Size: 594 amino acids; 65358 Da
Cofactor: FAD (By similarity)
Subcellular location: Mitochondrion inner membrane (By similarity)
Secondary accessions: Q9NY17

Explore the universe of human proteins at neXtProt for CHDH: NX_Q8NE62

Explore proteomics data for CHDH at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8NE62

  • 4/6 DME Specific Peptides for CHDH (Q8NE62) (see all 6)
     VLLLEAG  VDASIMP  VYVRGHA  NLQDHLE 

    CHDH Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CHDH Protein Expression
    REFSEQ proteins: NP_060867.2  
    ENSEMBL proteins: 
     ENSP00000319851   ENSP00000418273   ENSP00000419863  

    Human Recombinant Protein Products for CHDH: 
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    OriGene Protein Over-expression Lysate for CHDH
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for CHDH
    GenScript Custom Purified and Recombinant Proteins Services for CHDH
    Novus Biologicals CHDH Protein
    Novus Biologicals CHDH Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CHDH 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane IEA--

    CHDH for ontologies           About GeneDecksing



    CHDH Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for CHDH 

    Assay Products for CHDH: 
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CHDH 
    Cloud-Clone Corp. CLIAs for CHDH


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR012132 GMC_OxRdtase
     IPR007867 GMC_OxRtase_C
     IPR000172 GMC_OxRdtase_N

    Graphical View of Domain Structure for InterPro Entry Q8NE62

    ProtoNet protein and cluster: Q8NE62

    1 Blocks protein domain: IPB000172 Glucose-methanol-choline oxidoreductase

    UniProtKB/Swiss-Prot: CHDH_HUMAN, Q8NE62
    Similarity: Belongs to the GMC oxidoreductase family


    CHDH for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CHDH_HUMAN, Q8NE62
    Catalytic activity: Choline + acceptor = betaine aldehyde + reduced acceptor

         Enzyme Number (IUBMB): EC 1.1.99.11 2

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008812choline dehydrogenase activity IEA--
    GO:0016614oxidoreductase activity, acting on CH-OH group of donors ----
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ----
    GO:0050660flavin adenine dinucleotide binding IEA--
         
    CHDH for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CHDH:
     Decreased homologous recombina  Increased G1 DNA content 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Chdh):
     cellular  reproductive system 

    CHDH for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Chdhtm1Zei for CHDH

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CHDH 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CHDH

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CHDH 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CHDH 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CHDH
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate CHDH:
    hsa-miR-1276 hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidCHDH 3' UTR sequence
    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector: CHDH (NM_018397)
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                         Customized lentivirus expression plasmids for stable overexpression of CHDH 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHDH


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CHDH About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolic pathways0.40
    2Glycine, serine and threonine metabolism
    Glycine, serine and threonine metabolism
    3choline degradation I
    choline degradation I

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for CHDH
        choline degradation I


    2         Kegg Pathways  (Kegg details for CHDH):
        Glycine, serine and threonine metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: CHDH_HUMAN, Q8NE62
    Pathway: Amine and polyamine biosynthesis; betaine biosynthesis via choline pathway; betaine aldehyde from choline
    (cytochrome c reductase route): step 1/1


    CHDH for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CHDH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/36 Interacting proteins for CHDH (Q8NE622, 3 ENSP000003198514) via UniProtKB, MINT, STRING, and/or I2D (see all 36)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    RPL8P629172, 3, ENSP000002625844MINT-8252516 I2D: score=2 STRING: ENSP00000262584
    SEZ6Q53EL92, 3, ENSP000003534404MINT-8252527 I2D: score=2 STRING: ENSP00000353440
    MDFIQ997503I2D: score=1 
    SDR39U1Q9NRG73I2D: score=1 
    ALDH7A1ENSP000003871234STRING: ENSP00000387123
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006066alcohol metabolic process ----
    GO:0016117carotenoid biosynthetic process ----
    GO:0019285glycine betaine biosynthetic process from choline IEA--
    GO:0055114oxidation-reduction process ----

    CHDH for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CHDH for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CHDH

    9 HMDB Compounds for CHDH    About this table
    CompoundSynonyms CAS #PubMed Ids
    Betaine(Carboxymethyl)trimethylammonium hydroxide inner salt (see all 31)107-43-7--
    Betaine aldehyde(Formylmethyl)trimethylammonium (see all 8)7418-61-3--
    Choline(2-Hydroxyethyl)trimethyl ammonium (see all 19)62-49-7--
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    N1-AcetylspermineN'-Acetylspermine (see all 6)25593-72-0--
    NorspermidineN-(3-aminopropyl)-1,3-Propanediamine (see all 28)56-18-8--
    Putrescine1,4-Butanediamine (see all 8)110-60-1--
    Spermidine1,5,10-Triazadecane (see all 15)124-20-9--
    Spermine1,5,10,14-Tetraazatetradecane (see all 18)71-44-3--

    1 DrugBank Compound for CHDH    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    CholineBilineurine (see all 7)62-49-7enzymesubstrate17629908 17147620 17375117 16920841 16816108

    3 Novoseek inferred chemical compound relationships for CHDH gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    betaine aldehyde 90.6 2 8160802 (1), 10505788 (1)
    betaine 72.7 3 10653964 (2), 8160802 (1)
    choline 72.6 15 15302401 (2), 10653964 (2), 16816108 (1), 20031640 (1) (see all 7)

    Search CenterWatch for drugs/clinical trials and news about CHDH

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CHDH gene: 
    NM_018397.4  

    Unigene Cluster for CHDH:

    Choline dehydrogenase
    Hs.126688  [show with all ESTs]
    Unigene Representative Sequence: NM_018397
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000315251(uc003dgz.3) ENST00000481668 ENST00000467802
    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate CHDH:
    hsa-miR-1276 hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidCHDH 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    GenScript: all cDNA clones in your preferred vector: CHDH (NM_018397)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CHDH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHDH
    Sirion Biotech Customized lentivirus for stable overexpression of CHDH 
                         Customized lentivirus expression plasmids for stable overexpression of CHDH 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for CHDH
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CHDH
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CHDH

    Additional mRNA sequence: 

    AJ272267.1 AK055402.1 AK297575.1 BC034502.1 

    4 DOTS entries:

    DT.207016  DT.209376  DT.95270119  DT.95270117 

    24/127 AceView cDNA sequences (see all 127):

    AI792632 AK055402 BF197431 C20981 AI241086 CB147231 BM052814 AW469152 
    AI733810 AI285166 BE464406 AA134288 AA582580 BM142449 BG060119 BM769931 
    BV205595 AI564145 BQ648069 BI765156 AA088826 AI695649 BM053126 AA088689 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for CHDH    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d ^ 6 ^ 7a · 7b ^ 8 ^ 9
    SP1:                                                                    -               
    SP2:                                -                                                   
    SP3:                                                                                    


    ECgene alternative splicing isoforms for CHDH

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CHDH expression in normal human tissues (normalized intensities)      CHDH embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CHDH Expression
    About this image


    CHDH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/14 selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Mature Choroid Plexus Cells Choroid Plexus
             Cerebral Cortex
             brain/midbrain   
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             heart/atrium   
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Eye (Sensory Organs)
             Retina

    See CHDH Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CHDH

    SOURCE GeneReport for Unigene cluster: Hs.126688
        SABiosciences Expression via Pathway-Focused PCR Array including CHDH: 
              Amino Acid Metabolism II in human mouse rat

    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for CHDH
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CHDH
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHDH

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CHDH gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chdh1 , 5 choline dehydrogenase1, 5 82.8(n)1
    83.93(a)1
      14 (18.40 cM)5
    2188651  NM_001136240.11  NP_001129712.11 
     300090235 
    chicken
    (Gallus gallus)
    Aves CHDH1 choline dehydrogenase 67.35(n)
    77.57(a)
      415993  XM_414335.3  XP_414335.3 
    lizard
    (Anolis carolinensis)
    Reptilia CHDH6
    Choline dehydrogenase
    70(a)
    1 ↔ 1
    2(160504753-160531282)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.319692 Xenopus laevis transcribed sequence 78.87(n)    CF547537.1 
    zebrafish
    (Danio rerio)
    Actinopterygii chdh1 choline dehydrogenase 70.53(n)
    74.51(a)
      100331020  XM_002663255.1  XP_002663301.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG95213 choline dehydrogenase 41(a)
    (best of 14)
      12F6   --
    worm
    (Caenorhabditis elegans)
    Secernentea C34C6.41 , 3 choline dehydrogenase3
    Protein C34C6.41
    55(a)3
    52.73(n)1
    57.63(a)1
      II(8696551-8698849)3
    1743901  NM_063445.41  NP_495846.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/741 SNPs in CHDH are shown (see all 741)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1829418981,2
    --53782436(+) AGCCCC/TGAGAC 1 -- ds50010--------
    rs1878558481,2
    --53782518(+) TGGCCA/GGTTTA 1 -- ds50010--------
    rs111303811,2
    C,F,A,H--53782531(+) ATTTTC/TTTTCT 1 -- ds500113Minor allele frequency- T:0.48NS EA NA CSA WA 772
    rs1915670301,2
    --53782549(+) CTCTTC/TGAACA 1 -- ds50010--------
    rs1396206721,2
    C--53782550(+) TCTTC-/GAACAA 1 -- ds50010--------
    rs1833508481,2
    --53782550(+) TCTTCA/GAACAA 1 -- ds50010--------
    rs1875380031,2
    C--53782623(+) GTGATG/TGGTTT 1 -- ds50010--------
    rs1921242291,2
    C--53782650(+) TCGAAC/GGTTTT 1 -- ds50010--------
    rs2008564061,2
    --53782683(+) TGTCG-/GACGCCCC 1 -- ds50010--------
    rs2020310621,2
    --53782684(+) GTCGG-/ACGCCCC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for CHDH (53850324 - 53880420 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for CHDH:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv876803CNV Loss21882294
    nsv876805CNV Loss21882294
    dgv283n21CNV Loss19592680
    nsv876804CNV Gain21882294


    Human Gene Mutation Database (HGMD): CHDH
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    7 diseases for CHDH:    About MalaCards
    orofacial cleft    tooth agenesis    tuberculosis    hepatitis b
    alcoholism    hepatitis    breast cancer


    CHDH for disorders           About GeneDecksing

    Genetic Association Database (GAD): CHDH
    Human Genome Epidemiology (HuGE) Navigator: CHDH (9 documents)

    Export disorders for CHDH gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CHDH gene, integrated from 9 sources (see all 27):
    (articles sorted by number of sources associating them with CHDH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Common genetic polymorphisms affect the human requirement for the nutrient choline. (PubMed id 16816108)1, 4, 7, 9 da Costa K.A....Zeisel S.H. (2006)
    2. Polymorphisms located in the region containing BHMT a nd BHMT2 genes as maternal protective factors for orofacial clefts. (PubMed id 20662904)1, 4 Mostowska A....Jagodzinski P.P. (2010)
    3. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    4. Associations of folate and choline metabolism gene po lymorphisms with orofacial clefts. (PubMed id 19737740)1, 4 Mostowska A....Jagodzinski P.P. (2009)
    5. Choline metabolism and risk of breast cancer in a population-based study. (PubMed id 18230680)1, 4 Xu X....Chen J. (2008)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Cystathionine beta-synthase 844Ins68 polymorphism is not associated with the levels of homocysteine and cysteine in an Indian popula tion. (PubMed id 20175737)1, 9 Kumar J....Sengupta S. (2010)
    8. Single nucleotide polymorphisms in homocysteine metab olism pathway genes: association of CHDH A119C and MTHFR C677T with hyperhomocy steinemia. (PubMed id 20031640)1, 9 Kumar J....Ramakrishnan L. (2009)
    9. Phosphatidylethanolamine N-methyltransferase and choli ne dehydrogenase gene polymorphisms are associated with human sperm concentratio n. (PubMed id 22387881)1 Lazaros L....Georgiou I. (2012)
    10. Choline dehydrogenase polymorphism rs12676 is a functi onal variation and is associated with changes in human sperm cell function. (PubMed id 22558321)1 Johnson A.R....Zeisel S.H. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55349 HGNC: 24288 AceView: CHDH Ensembl:ENSG00000016391 euGenes: HUgn55349
    ECgene: CHDH Kegg: 55349 H-InvDB: CHDH

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CHDH Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CHDH gene:
    Search GeneIP for patents involving CHDH

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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