CHDH
gene geneOn this page
Summary
CHDH (choline dehydrogenase, HGNC:24288) is a protein-coding gene on chromosome 3p21.1, encoding Choline dehydrogenase, mitochondrial (Q8NE62).
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.
Source: NCBI Gene 55349 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 121 total
- MANE Select transcript:
NM_018397
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24288 |
| Approved symbol | CHDH |
| Name | choline dehydrogenase |
| Location | 3p21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000016391 |
| Ensembl biotype | protein_coding |
| Entrez | 55349 |
Gene structure
Transcript identifiers
Ensembl transcripts: 36 — 36 protein_coding
ENST00000315251, ENST00000467802, ENST00000481668, ENST00000875878, ENST00000875879, ENST00000875880, ENST00000875881, ENST00000875882, ENST00000875883, ENST00000875884, ENST00000875885, ENST00000875886, ENST00000875887, ENST00000875888, ENST00000875889, ENST00000875890, ENST00000875891, ENST00000875892, ENST00000875893, ENST00000875894, ENST00000875895, ENST00000911850, ENST00000911851, ENST00000959581, ENST00000959582, ENST00000959583, ENST00000959584, ENST00000959585, ENST00000959586, ENST00000959587, ENST00000959588, ENST00000959589, ENST00000959590, ENST00000959591, ENST00000959592, ENST00000959593
RefSeq mRNA: 1 — MANE Select: NM_018397
NM_018397
CCDS: CCDS2873
Canonical transcript exons
ENST00000315251 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000771820 | 53822491 | 53822642 |
| ENSE00000771821 | 53821647 | 53821776 |
| ENSE00000771822 | 53820474 | 53820608 |
| ENSE00000771823 | 53819532 | 53819674 |
| ENSE00000771824 | 53818938 | 53819040 |
| ENSE00001079877 | 53812335 | 53818195 |
| ENSE00001215234 | 53823306 | 53824067 |
| ENSE00001343824 | 53840929 | 53840999 |
| ENSE00001343837 | 53846083 | 53846419 |
Expression profiles
Bgee: expression breadth ubiquitous, 236 present calls, max score 98.41.
FANTOM5 (CAGE): breadth broad, TPM avg 1.9550 / max 50.8453, expressed in 648 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 42518 | 1.3193 | 553 |
| 42517 | 0.4416 | 210 |
| 42519 | 0.1544 | 75 |
| 42515 | 0.0341 | 12 |
| 42516 | 0.0055 | 3 |
Top tissues by expression
252 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| kidney epithelium | UBERON:0004819 | 98.41 | gold quality |
| renal medulla | UBERON:0000362 | 93.94 | gold quality |
| pylorus | UBERON:0001166 | 90.80 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 90.37 | gold quality |
| cerebellar vermis | UBERON:0004720 | 90.23 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 89.40 | gold quality |
| right lobe of liver | UBERON:0001114 | 88.94 | gold quality |
| liver | UBERON:0002107 | 88.19 | gold quality |
| cardia of stomach | UBERON:0001162 | 88.11 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 87.56 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 87.47 | gold quality |
| kidney | UBERON:0002113 | 87.17 | gold quality |
| ileal mucosa | UBERON:0000331 | 86.76 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 86.34 | gold quality |
| pancreatic ductal cell | CL:0002079 | 86.03 | silver quality |
| parotid gland | UBERON:0001831 | 85.46 | gold quality |
| ventral tegmental area | UBERON:0002691 | 85.32 | gold quality |
| trachea | UBERON:0003126 | 85.22 | gold quality |
| medial globus pallidus | UBERON:0002477 | 85.03 | gold quality |
| globus pallidus | UBERON:0001875 | 85.01 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 84.99 | gold quality |
| mammary duct | UBERON:0001765 | 84.88 | gold quality |
| vena cava | UBERON:0004087 | 84.71 | silver quality |
| subthalamic nucleus | UBERON:0001906 | 84.39 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 83.92 | gold quality |
| body of pancreas | UBERON:0001150 | 83.52 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 83.40 | gold quality |
| nipple | UBERON:0002030 | 83.34 | gold quality |
| upper arm skin | UBERON:0004263 | 83.00 | gold quality |
| medulla oblongata | UBERON:0001896 | 82.78 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.09 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
40 targeting CHDH, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-1276 | 99.36 | 68.18 | 1642 |
| HSA-MIR-520A-5P | 99.35 | 66.72 | 1632 |
| HSA-MIR-525-5P | 99.35 | 66.85 | 1615 |
| HSA-MIR-6808-5P | 99.31 | 66.23 | 2150 |
| HSA-MIR-504-3P | 99.30 | 67.18 | 1745 |
| HSA-MIR-324-3P | 99.26 | 66.31 | 1034 |
| HSA-MIR-7974 | 99.24 | 65.48 | 1137 |
| HSA-MIR-6734-3P | 99.15 | 66.27 | 1627 |
| HSA-MIR-939-3P | 98.97 | 65.07 | 2347 |
| HSA-MIR-4801 | 98.96 | 69.42 | 2096 |
| HSA-MIR-6756-3P | 98.94 | 66.79 | 1104 |
| HSA-MIR-3127-3P | 98.94 | 67.34 | 1055 |
| HSA-MIR-181A-2-3P | 98.91 | 67.60 | 1168 |
| HSA-MIR-29B-1-5P | 98.86 | 68.35 | 1364 |
| HSA-MIR-648 | 98.64 | 66.13 | 553 |
| HSA-MIR-4731-3P | 98.56 | 68.60 | 1860 |
| HSA-MIR-4722-5P | 98.46 | 66.34 | 1611 |
| HSA-MIR-4691-5P | 98.41 | 66.77 | 1343 |
| HSA-MIR-6792-3P | 98.41 | 66.86 | 1359 |
| HSA-MIR-4691-3P | 98.11 | 66.83 | 1204 |
| HSA-MIR-6742-3P | 97.95 | 64.50 | 1490 |
| HSA-MIR-6765-3P | 97.83 | 64.59 | 1165 |
| HSA-MIR-3921 | 97.81 | 67.45 | 1431 |
| HSA-MIR-4660 | 97.79 | 67.44 | 1328 |
| HSA-MIR-6747-3P | 97.73 | 64.84 | 1596 |
| HSA-MIR-4667-5P | 97.61 | 66.67 | 1683 |
| HSA-MIR-4653-5P | 97.22 | 67.72 | 1429 |
| HSA-MIR-1233-3P | 96.81 | 65.44 | 573 |
Literature-anchored findings (GeneRIF, showing 10)
- HOXB13, IL17BR, and CHDH are regulated by estrogen in breast cancer (PMID:17975144)
- single nucleotide polymorphisms of choline-metabolizing genes, PEMT -774G>C (rs12325817) and CHDH +432G>T (rs12676), were found be related to breast cancer risk (PMID:18230680)
- CHDH A119C and MTHFR C677T play an important role in modulating the homocysteine levels in Indian population. (PMID:20031640)
- CHDH and PLD2 as novel candidate genes, the nucleotide variants of which could be associated with the risk of tooth agenesis. (PMID:21308979)
- the PEMT -774G>C and CHDH +432G>T polymorphisms were associated with sperm concentration. This finding suggests a possible influence of these genes on sperm quality (PMID:22387881)
- The rs12676 single nucleotide polymorphism is associated with altered sperm motility patterns and dysmorphic mitochondrial structure in sperm. (PMID:22558321)
- CHDH is not a substrate of PARK2 but interacts with SQSTM1 independently of PARK2 to recruit SQSTM1 into depolarized mitochondria (PMID:25483962)
- CHDH gene is located at chromosome 3p21.1, a risk region implicated in previous brains of bipolar disorder genome-wide association studies (PMID:27562178)
- In genotypic combination analysis considering PEMT -744GG/CHDH +432GG/BHMT +742GG as the reference combination, PEMT -744GC/CHDH +432GG/BHMT +742GG genotypic combination was significantly higher in mothers of a down syndrome child compared with that in control mothers with an odds ratio of 2.061 (95% CI: 1.10-3.86, P=0.0342). (PMID:27677362)
- There is no correlation between single CHDH rs893363 and CHDH rs2289205 polymorphisms and the incidence of intrauterine fetal death. (PMID:28509322)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | chdh | ENSDARG00000100304 |
| mus_musculus | Chdh | ENSMUSG00000015970 |
| rattus_norvegicus | Chdh | ENSRNOG00000015859 |
| drosophila_melanogaster | ninaG | FBGN0037896 |
| caenorhabditis_elegans | WBGENE00007917 |
Protein
Protein identifiers
Choline dehydrogenase, mitochondrial — Q8NE62 (reviewed: Q8NE62)
All UniProt accessions (3): Q8NE62, C9J7D8, C9JYW4
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Mitochondrion inner membrane.
Pathway. Amine and polyamine biosynthesis; betaine biosynthesis via choline pathway; betaine aldehyde from choline (cytochrome c reductase route): step 1/1.
Similarity. Belongs to the GMC oxidoreductase family.
RefSeq proteins (1): NP_060867* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000172 | GMC_OxRdtase_N | Domain |
| IPR007867 | GMC_OxRtase_C | Domain |
| IPR012132 | GMC_OxRdtase | Family |
| IPR036188 | FAD/NAD-bd_sf | Homologous_superfamily |
Pfam: PF00732, PF05199
Enzyme classification (BRENDA):
- EC 1.1.99.1 — choline dehydrogenase (BRENDA: 9 organisms, 61 substrates, 27 inhibitors, 10 Km, 0 kcat entries)
Substrate kinetics (BRENDA)
5 substrates with measured Km, best-characterized 5. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| CHOLINE | 1.7–7 | 4 |
| PHENAZINE METHOSULFATE | 0.14–1.1 | 3 |
| 2,6-DICHLOROPHENOLINDOPHENOL | 1 | 1 |
| BETAINE ALDEHYDE | 3.1 | 1 |
| P-BENZOQUINONE | 0.83 | 1 |
Catalyzed reactions (Rhea), 1 shown:
- choline + A = betaine aldehyde + AH2 (RHEA:17433)
UniProt features (14 total): modified residue 6, sequence variant 3, transit peptide 1, chain 1, sequence conflict 1, active site 1, binding site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NE62-F1 | 92.84 | 0.90 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 511 (proton acceptor)
Ligand- & substrate-binding residues (1): 42–71
Post-translational modifications (6): 436, 484, 484, 496, 496, 580
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-6798163 | Choline catabolism |
MSigDB gene sets: 119 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, BENPORATH_ES_WITH_H3K27ME3, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, GOCC_MITOCHONDRIAL_ENVELOPE, GOBP_AMINO_ACID_BETAINE_METABOLIC_PROCESS, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, WONG_MITOCHONDRIA_GENE_MODULE, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_CH_OH_GROUP_OF_DONORS, GOBP_MODIFIED_AMINO_ACID_METABOLIC_PROCESS, MARIADASON_RESPONSE_TO_BUTYRATE_SULINDAC_6, TGGAAA_NFAT_Q4_01, GOCC_ORGANELLE_INNER_MEMBRANE, GAVIN_FOXP3_TARGETS_CLUSTER_P6, LINDGREN_BLADDER_CANCER_CLUSTER_1_DN
GO Biological Process (2): obsolete glycine betaine biosynthetic process from choline (GO:0019285), choline catabolic process (GO:0042426)
GO Molecular Function (5): choline dehydrogenase activity (GO:0008812), flavin adenine dinucleotide binding (GO:0050660), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on CH-OH group of donors (GO:0016614)
GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Metabolism of amino acids and derivatives | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| choline metabolic process | 1 |
| biogenic amine catabolic process | 1 |
| oxidoreductase activity, acting on CH-OH group of donors | 1 |
| nucleotide binding | 1 |
| anion binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| oxidoreductase activity | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
2634 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CHDH | BHMT | Q93088 | 744 |
| CHDH | SQSTM1 | Q13501 | 699 |
| CHDH | PEMT | Q9UBM1 | 636 |
| CHDH | MTR | Q99707 | 623 |
| CHDH | SARDH | Q9UL12 | 623 |
| CHDH | DMGDH | Q9UI17 | 580 |
| CHDH | MTHFR | P42898 | 565 |
| CHDH | ALDH7A1 | P49419 | 556 |
| CHDH | MTHFD1 | P11586 | 555 |
| CHDH | CHKA | P35790 | 544 |
| CHDH | DHODH | Q02127 | 540 |
| CHDH | AHCY | P23526 | 528 |
| CHDH | SQOR | Q9Y6N5 | 521 |
| CHDH | MTRR | Q9UBK8 | 519 |
| CHDH | H7C2H4 | H7C2H4 | 513 |
IntAct
40 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| COQ8A | COQ9 | psi-mi:“MI:0914”(association) | 0.670 |
| NDUFS7 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.640 |
| NOTCH2NLA | CHDH | psi-mi:“MI:0915”(physical association) | 0.560 |
| CHDH | NOTCH2NLA | psi-mi:“MI:0915”(physical association) | 0.560 |
| CHDH | KLK6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BPNT1 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| YBEY | NME4 | psi-mi:“MI:0914”(association) | 0.530 |
| CHDH | RPL8 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CHDH | SEZ6 | psi-mi:“MI:0915”(physical association) | 0.370 |
| YBEY | NUDT19 | psi-mi:“MI:0914”(association) | 0.350 |
| NDUFS7 | psi-mi:“MI:0914”(association) | 0.350 | |
| TRMT1 | HDAC3 | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM70 | FDXR | psi-mi:“MI:0914”(association) | 0.350 |
| COQ9 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.350 |
| NMES1 | COX7A2L | psi-mi:“MI:0914”(association) | 0.350 |
| COQ9 | ACOT7 | psi-mi:“MI:0914”(association) | 0.350 |
| FAM136A | ALDH1L1 | psi-mi:“MI:0914”(association) | 0.350 |
| NDUFA4 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.350 |
| COQ8B | COQ9 | psi-mi:“MI:0914”(association) | 0.350 |
| NMES1 | TIMM44 | psi-mi:“MI:0914”(association) | 0.350 |
| MAIP1 | COQ9 | psi-mi:“MI:0914”(association) | 0.350 |
| NDUFA4 | COX7A2L | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (30): NOTCH2NL (Two-hybrid), SQSTM1 (Affinity Capture-Western), CHDH (Affinity Capture-Western), MAP1LC3A (Affinity Capture-Western), CHDH (Affinity Capture-MS), CHDH (Affinity Capture-MS), CHDH (Affinity Capture-MS), CHDH (Affinity Capture-MS), CHDH (Affinity Capture-MS), CHDH (Affinity Capture-MS), CHDH (Affinity Capture-MS), CHDH (Affinity Capture-MS), CHDH (Affinity Capture-MS), CHDH (Affinity Capture-MS), CHDH (Affinity Capture-MS)
ESM2 similar proteins: A0A142PTM2, A0A161CEV4, A0A1L9WN49, A0A248QE08, A0A2V5GRB0, A0A3B1EFP9, A0A5C1RDA6, A4UHS8, A4XPI5, A5WA97, A6VEI3, A8GBX9, A8JHB7, B0KN19, B0RNU9, B2JS89, B3PTE0, B5ZUG2, B7V5R3, C3K3D3, C6DKY4, C8VDT4, M2Y151, M5EAX2, P18172, P18173, P9WEH2, Q02DZ0, Q0B711, Q12062, Q1IG70, Q1MJU4, Q2KB43, Q3K5H3, Q48CM7, Q4K4K7, Q4UYN5, Q4ZM63, Q5GMY3, Q5HL11
Diamond homologs: A0A075TRK9, A0A142PTM2, A0A161CEV4, A0A1U8QYA8, A0A2V5GRB0, A0A5C1RDA6, A0B2F7, A1CFL2, A4JJG6, A4TNP2, A4UHS8, A4XPI5, A5IW37, A5VPA6, A5WA97, A6QK99, A6U4Z2, A6U6Y8, A6VEI3, A6X2G7, A7FKL6, A7MFA8, A7X6Z3, A8AJN0, A8GBX9, A8Z5A4, A9AMZ9, A9M9H8, B0CKN4, B0KN19, B1JSR0, B1K707, B1Z034, B2FQ89, B2JS89, B2K8U4, B2TCJ8, B3PTE0, B4EHJ2, B4SHV9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
121 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 97 |
| Likely benign | 9 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2168 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:53817749:C:A | donor_gain | 1.0000 |
| 3:53818933:AGTAC:A | donor_loss | 1.0000 |
| 3:53818934:GTA:G | donor_loss | 1.0000 |
| 3:53818935:TACC:T | donor_loss | 1.0000 |
| 3:53818936:A:C | donor_loss | 1.0000 |
| 3:53820470:TCA:T | donor_loss | 1.0000 |
| 3:53820471:CAC:C | donor_loss | 1.0000 |
| 3:53820472:A:AT | donor_loss | 1.0000 |
| 3:53820604:AACCC:A | acceptor_gain | 1.0000 |
| 3:53820605:ACCC:A | acceptor_gain | 1.0000 |
| 3:53820606:CCC:C | acceptor_gain | 1.0000 |
| 3:53820606:CCCC:C | acceptor_gain | 1.0000 |
| 3:53820607:CC:C | acceptor_gain | 1.0000 |
| 3:53820607:CCC:C | acceptor_gain | 1.0000 |
| 3:53820608:CC:C | acceptor_gain | 1.0000 |
| 3:53820609:C:CC | acceptor_gain | 1.0000 |
| 3:53820609:C:T | acceptor_gain | 1.0000 |
| 3:53820612:A:AC | acceptor_gain | 1.0000 |
| 3:53820612:A:C | acceptor_gain | 1.0000 |
| 3:53821640:GACT:G | donor_loss | 1.0000 |
| 3:53821641:ACTC:A | donor_loss | 1.0000 |
| 3:53821642:CTCAC:C | donor_loss | 1.0000 |
| 3:53821643:TCA:T | donor_loss | 1.0000 |
| 3:53821644:C:CG | donor_loss | 1.0000 |
| 3:53821645:A:AC | donor_gain | 1.0000 |
| 3:53821645:ACCA:A | donor_loss | 1.0000 |
| 3:53821646:C:CC | donor_gain | 1.0000 |
| 3:53821772:TAAGC:T | acceptor_gain | 1.0000 |
| 3:53821776:CCTGG:C | acceptor_loss | 1.0000 |
| 3:53821777:C:CA | acceptor_loss | 1.0000 |
AlphaMissense
3853 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:53817897:G:C | N555K | 0.997 |
| 3:53817897:G:T | N555K | 0.997 |
| 3:53818031:G:C | H511D | 0.997 |
| 3:53820588:C:G | D336H | 0.996 |
| 3:53818038:G:C | S508R | 0.995 |
| 3:53818038:G:T | S508R | 0.995 |
| 3:53818040:T:G | S508R | 0.995 |
| 3:53819637:G:C | F386L | 0.995 |
| 3:53819637:G:T | F386L | 0.995 |
| 3:53819639:A:G | F386L | 0.995 |
| 3:53823561:A:G | W150R | 0.995 |
| 3:53823561:A:T | W150R | 0.995 |
| 3:53823604:A:C | N135K | 0.995 |
| 3:53823604:A:T | N135K | 0.995 |
| 3:53817925:G:A | S546F | 0.994 |
| 3:53817925:G:T | S546Y | 0.994 |
| 3:53818014:A:C | C516W | 0.994 |
| 3:53820587:T:A | D336V | 0.994 |
| 3:53820587:T:G | D336A | 0.994 |
| 3:53823573:C:G | D146H | 0.994 |
| 3:53817932:C:G | D544H | 0.993 |
| 3:53817937:A:T | V542D | 0.993 |
| 3:53819641:C:T | G385E | 0.993 |
| 3:53823535:C:A | W158C | 0.993 |
| 3:53823535:C:G | W158C | 0.993 |
| 3:53823537:A:G | W158R | 0.993 |
| 3:53823537:A:T | W158R | 0.993 |
| 3:53817931:T:A | D544V | 0.992 |
| 3:53818031:G:T | H511N | 0.992 |
| 3:53822629:G:C | S239R | 0.992 |
dbSNP variants (sampled 300 via entrez): RS1000090787 (3:53815509 T>C), RS1000124129 (3:53833551 TG>T), RS1000177999 (3:53830334 T>C), RS1000234981 (3:53839936 G>A), RS1000283119 (3:53833956 T>C), RS1000335796 (3:53834212 C>T), RS1000412172 (3:53823229 C>G), RS1000425843 (3:53841999 AG>A), RS1000443254 (3:53815198 A>G), RS1000583248 (3:53827782 G>A), RS1000648905 (3:53846022 C>A,G,T), RS1000701076 (3:53846188 C>T), RS1000709185 (3:53829484 G>C), RS1000799028 (3:53836396 C>G,T), RS1000855623 (3:53826811 T>A,C)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002115_6 | Axial length | 8.000000e-06 |
| GCST005951_50 | Body mass index | 5.000000e-11 |
| GCST007327_68 | Smoking status (ever vs never smokers) | 4.000000e-08 |
| GCST007929_91 | Medication use (calcium channel blockers) | 1.000000e-08 |
| GCST009569_1 | interleukin 17 receptor B levels | 2.000000e-18 |
| GCST010002_424 | Refractive error | 9.000000e-24 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005318 | axial length measurement |
| EFO:0004340 | body mass index |
| EFO:0004318 | smoking behavior |
| EFO:0009930 | Calcium channel blocker use measurement |
| EFO:0008176 | interleukin 17 receptor B measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs6801605 | CHDH | 0.00 | 0 |
CTD chemical–gene interactions
45 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, affects cotreatment, increases methylation | 2 |
| sodium arsenite | decreases expression | 2 |
| Leflunomide | decreases expression | 2 |
| Acetaminophen | decreases expression | 2 |
| Estradiol | increases expression | 2 |
| Nickel | decreases expression | 2 |
| Valproic Acid | affects cotreatment, decreases expression | 2 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| K 7174 | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| teriflunomide | decreases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| NSC 689534 | decreases expression, affects binding | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Arsenic | affects metabolic processing | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Calcitriol | increases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Choline | affects response to substance | 1 |
| Cisplatin | decreases expression | 1 |
| Copper | affects binding, decreases expression | 1 |
| Diclofenac | affects expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Formaldehyde | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.