DNAJC15
gene geneOn this page
Also known as MCJ
Summary
DNAJC15 (DnaJ heat shock protein family (Hsp40) member C15, HGNC:20325) is a protein-coding gene on chromosome 13q14.11, encoding DnaJ homolog subfamily C member 15 (Q9Y5T4). Negative regulator of the mitochondrial respiratory chain.
Predicted to enable ATPase activator activity. Predicted to be involved in protein import into mitochondrial matrix. Predicted to act upstream of or within several processes, including cellular response to starvation; negative regulation of mitochondrial electron transport, NADH to ubiquinone; and negative regulation of protein-containing complex assembly. Located in mitochondrion.
Source: NCBI Gene 29103 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 61 total
- MANE Select transcript:
NM_013238
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20325 |
| Approved symbol | DNAJC15 |
| Name | DnaJ heat shock protein family (Hsp40) member C15 |
| Location | 13q14.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MCJ |
| Ensembl gene | ENSG00000120675 |
| Ensembl biotype | protein_coding |
| OMIM | 615339 |
| Entrez | 29103 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000379221, ENST00000474320, ENST00000885099, ENST00000885100
RefSeq mRNA: 1 — MANE Select: NM_013238
NM_013238
CCDS: CCDS9388
Canonical transcript exons
ENST00000379221 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000817254 | 43078612 | 43078688 |
| ENSE00000817255 | 43085768 | 43085838 |
| ENSE00001001657 | 43107178 | 43114213 |
| ENSE00003519888 | 43023586 | 43023734 |
| ENSE00003546263 | 43068930 | 43069003 |
| ENSE00003558761 | 43065686 | 43065737 |
Expression profiles
Bgee: expression breadth ubiquitous, 283 present calls, max score 97.37.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 66.1746 / max 434.1932, expressed in 1675 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 134897 | 62.1819 | 1675 |
| 134895 | 2.8009 | 786 |
| 134896 | 0.8060 | 393 |
| 134894 | 0.3857 | 149 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| jejunal mucosa | UBERON:0000399 | 97.37 | gold quality |
| seminal vesicle | UBERON:0000998 | 96.36 | gold quality |
| heart right ventricle | UBERON:0002080 | 95.77 | gold quality |
| corpus epididymis | UBERON:0004359 | 94.66 | gold quality |
| oocyte | CL:0000023 | 94.48 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 94.48 | gold quality |
| myocardium | UBERON:0002349 | 94.41 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 93.88 | gold quality |
| adult organism | UBERON:0007023 | 93.67 | gold quality |
| nephron tubule | UBERON:0001231 | 93.57 | gold quality |
| medial globus pallidus | UBERON:0002477 | 93.55 | gold quality |
| colonic mucosa | UBERON:0000317 | 93.26 | gold quality |
| duodenum | UBERON:0002114 | 92.93 | gold quality |
| jejunum | UBERON:0002115 | 92.87 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 92.67 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 92.43 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 92.27 | gold quality |
| parotid gland | UBERON:0001831 | 91.80 | gold quality |
| periodontal ligament | UBERON:0008266 | 91.65 | gold quality |
| ileal mucosa | UBERON:0000331 | 91.44 | gold quality |
| endothelial cell | CL:0000115 | 91.34 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 90.95 | gold quality |
| lower lobe of lung | UBERON:0008949 | 90.91 | gold quality |
| caput epididymis | UBERON:0004358 | 90.73 | gold quality |
| cauda epididymis | UBERON:0004360 | 90.63 | gold quality |
| biceps brachii | UBERON:0001507 | 90.59 | gold quality |
| saphenous vein | UBERON:0007318 | 90.57 | gold quality |
| cranial nerve II | UBERON:0000941 | 90.56 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 90.49 | gold quality |
| endometrium | UBERON:0001295 | 90.48 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8559 | yes | 321.54 |
| E-MTAB-8271 | yes | 7.28 |
| E-MTAB-6819 | no | 1464.94 |
| E-MTAB-10018 | no | 1051.78 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
82 targeting DNAJC15, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-557 | 99.96 | 70.01 | 1640 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-6499-3P | 99.90 | 66.38 | 1212 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-205-5P | 99.81 | 70.05 | 1557 |
| HSA-MIR-6505-5P | 99.73 | 69.25 | 1595 |
| HSA-MIR-4428 | 99.73 | 66.41 | 1733 |
| HSA-MIR-4719 | 99.73 | 72.10 | 3329 |
| HSA-MIR-1296-3P | 99.72 | 64.04 | 636 |
Literature-anchored findings (GeneRIF, showing 16)
- loss of expression of MCJ by DNA methylation is associated with drug-resistance in ovarian cancer (PMID:14729589)
- evidence of MCJ hypermethylation in intracranial primitive neuroectodermal tumours (PNETs) (medulloblastomas, supratentorial PNETs & ependymomas); data indicate epigenetic inactivation of MCJ may play a role in development of pediatric brain tumours (PMID:16049974)
- MCJ is required in these cells to prevent c-Jun-mediated expression of ABCB1 and maintain drug response. (PMID:17283040)
- Following transient expression of MDR-1 and MCJ, changes in the sensitivity of Sk-Ov-3 cells to paclitaxel were detected whereas expression of Src, Bcl-2 and Bcl-X(L) decreased the sensitivity of Sk-Ov-3 cells to carboplatin. (PMID:18324624)
- MCJ functions as J co-chaperone of the human TIM23 pre-protein translocase. (PMID:23263864)
- Report functional connection between mitochondrial inner membrane protein translocation machinery-associated J-protein DnaJC15 and regulation of cell death pathways. (PMID:24603329)
- Changes in the expression levels of IRS1, IRS2, RIPK2, RSPO1, and DNA JC15 genes might contribute to the development of insulin resistance and glucose intolerance in the obese boys. (PMID:26040030)
- These results identify the MCJ gene as a transcriptional target of IFNgamma and provide evidence of the dynamic adaptation of normal tissues to changes in the environment as a way to adapt metabolically to new conditions (PMID:26419808)
- this study shows that memory CD8+ T cells lacking MCJ provide superior protection against influenza virus infection (PMID:27234056)
- Both DnaJC15 and DnaJC19 formed two distinct subcomplexes with Magmas at the import channel. (PMID:27330077)
- Acetaminophen interferes with the formation of mitochondrial respiratory supercomplexes via the mitochondrial negative regulator MCJ. Study also show higher levels of MCJ in livers from patients with acetaminophen-induced liver injury. (PMID:29233977)
- Notably, the top signal of differentiated ASE between inter-continental populations was observed in DNAJC15, of which the derived allele of rs12015, a single nucleotide polymorphism (SNP), showed significantly higher expression than did the ancestral allele specifically in European individuals. (PMID:29346564)
- DNAJC15 as a new target gene responsible for ETV7-mediated Doxorubicin-resistance. (PMID:30025229)
- The mitochondrial negative regulator MCJ modulates the interplay between microbiota and the host during ulcerative colitis. (PMID:31953445)
- Silencing hepatic MCJ attenuates non-alcoholic fatty liver disease (NAFLD) by increasing mitochondrial fatty acid oxidation. (PMID:32620763)
- MCJ: A mitochondrial target for cardiac intervention in pulmonary hypertension. (PMID:38241373)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dnajc15 | ENSDARG00000038309 |
| mus_musculus | Dnajc15 | ENSMUSG00000022013 |
| rattus_norvegicus | Dnajc15 | ENSRNOG00000009063 |
| drosophila_melanogaster | CG7394 | FBGN0036173 |
| caenorhabditis_elegans | dnj-21 | WBGENE00001039 |
Paralogs (1): DNAJC19 (ENSG00000205981)
Protein
Protein identifiers
DnaJ homolog subfamily C member 15 — Q9Y5T4 (reviewed: Q9Y5T4)
Alternative names: Cell growth-inhibiting gene 22 protein, Methylation-controlled J protein
All UniProt accessions (1): Q9Y5T4
UniProt curated annotations — full annotation on UniProt →
Function. Negative regulator of the mitochondrial respiratory chain. Prevents mitochondrial hyperpolarization state and restricts mitochondrial generation of ATP. Acts as an import component of the TIM23 translocase complex. Stimulates the ATPase activity of HSPA9.
Subunit / interactions. Interacts with the TIM23 complex. Directly interacts with PAM16/MAGMAS; this interaction counteracts DNAJC15-dependent stimulation of HSPA9 ATPase activity. Associates with complex I of the mitochondrial electron transfer chain; this interaction may interfere with the formation of supercomplexes that facilitate the transfer of electrons between complexes.
Subcellular location. Mitochondrion inner membrane.
Tissue specificity. Expressed at highest levels in heart, followed by liver and kidney.
Disease relevance. Absent or down-regulated in many advanced cases of ovarian adenocarcinoma, due to hypermethylation and allelic loss. Loss of expression correlates with increased resistance to antineoplastic drugs, such as cisplatin.
RefSeq proteins (1): NP_037370* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001623 | DnaJ_domain | Domain |
| IPR036869 | J_dom_sf | Homologous_superfamily |
UniProt features (9 total): topological domain 2, sequence conflict 2, chain 1, transmembrane region 1, domain 1, modified residue 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y5T4-F1 | 78.66 | 0.47 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 104
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 209 (showing top):
GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, WALLACE_PROSTATE_CANCER_RACE_UP, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOZGIT_ESR1_TARGETS_DN, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, GOBP_REGULATION_OF_OXIDATIVE_PHOSPHORYLATION, GOBP_REGULATION_OF_LIPID_METABOLIC_PROCESS, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_OXIDATIVE_PHOSPHORYLATION, GOBP_ELECTRON_TRANSPORT_CHAIN
GO Biological Process (9): mitochondrial electron transport, NADH to ubiquinone (GO:0006120), intracellular protein transport (GO:0006886), cellular response to starvation (GO:0009267), regulation of lipid metabolic process (GO:0019216), protein import into mitochondrial matrix (GO:0030150), negative regulation of protein-containing complex assembly (GO:0031333), protein-containing complex assembly (GO:0065003), negative regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902957), protein transport (GO:0015031)
GO Molecular Function (2): ATPase activator activity (GO:0001671), protein binding (GO:0005515)
GO Cellular Component (5): PAM complex, Tim23 associated import motor (GO:0001405), mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), TIM23 mitochondrial import inner membrane translocase complex (GO:0005744), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular protein localization | 2 |
| inner mitochondrial membrane protein complex | 2 |
| aerobic electron transport chain | 1 |
| mitochondrial ATP synthesis coupled electron transport | 1 |
| protein transport | 1 |
| intracellular transport | 1 |
| cellular response to nutrient levels | 1 |
| cellular response to stress | 1 |
| response to starvation | 1 |
| lipid metabolic process | 1 |
| regulation of primary metabolic process | 1 |
| protein transmembrane import into intracellular organelle | 1 |
| protein localization to mitochondrion | 1 |
| import into the mitochondrion | 1 |
| mitochondrial protein import pathway | 1 |
| regulation of protein-containing complex assembly | 1 |
| negative regulation of cellular component organization | 1 |
| protein-containing complex assembly | 1 |
| cellular component assembly | 1 |
| protein-containing complex organization | 1 |
| mitochondrial electron transport, NADH to ubiquinone | 1 |
| regulation of mitochondrial electron transport, NADH to ubiquinone | 1 |
| negative regulation of mitochondrial ATP synthesis coupled electron transport | 1 |
| transport | 1 |
| establishment of protein localization | 1 |
| ATP-dependent activity | 1 |
| molecular function activator activity | 1 |
| binding | 1 |
| TIM23 mitochondrial import inner membrane translocase complex | 1 |
| mitochondrial matrix | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1234 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DNAJC15 | TIMM44 | O43615 | 817 |
| DNAJC15 | PAM16 | Q9Y3D7 | 810 |
| DNAJC15 | HSPA9 | P30036 | 726 |
| DNAJC15 | PPIF | P30405 | 712 |
| DNAJC15 | GRPEL1 | Q9HAV7 | 659 |
| DNAJC15 | DNAJC19 | Q96DA6 | 559 |
| DNAJC15 | TIMM21 | Q9BVV7 | 532 |
| DNAJC15 | DNAJC1 | Q96KC8 | 512 |
| DNAJC15 | DNAJC9 | Q8WXX5 | 501 |
| DNAJC15 | TIMM17B | O60830 | 500 |
| DNAJC15 | TIMM50 | Q3ZCQ8 | 499 |
| DNAJC15 | TIMM17A | Q99595 | 498 |
| DNAJC15 | DNAJC25 | Q9H1X3 | 497 |
| DNAJC15 | FAM216B | Q8N7L0 | 478 |
| DNAJC15 | DNAJC12 | Q9UKB3 | 476 |
| DNAJC15 | PSMA6 | P34062 | 476 |
IntAct
19 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DNAJC15 | PAM16 | psi-mi:“MI:0915”(physical association) | 0.710 |
| TIMM17B | TIMM23 | psi-mi:“MI:0914”(association) | 0.670 |
| SIAH1 | DNAJC15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DNAJC15 | FAM9B | psi-mi:“MI:0915”(physical association) | 0.560 |
| DNAJC15 | SIAH1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC39A4 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| HSPA9 | psi-mi:“MI:0882”(atpase reaction) | 0.440 | |
| DNAJC15 | TIMM17B | psi-mi:“MI:0914”(association) | 0.350 |
| DNAJC15 | GAPDHS | psi-mi:“MI:0914”(association) | 0.350 |
| SAAL1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| ATF5 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (173): DNAJC15 (Two-hybrid), FAM9B (Two-hybrid), DNAJC15 (Affinity Capture-Western), DNAJC15 (Affinity Capture-Western), PAM16 (Affinity Capture-Western), DNAJC15 (Affinity Capture-Western), TIMM17A (Affinity Capture-Western), TIMM17B (Affinity Capture-Western), DNAJC15 (Affinity Capture-MS), DNAJC15 (Affinity Capture-MS), HAX1 (Affinity Capture-MS), ANP32B (Affinity Capture-MS), YME1L1 (Affinity Capture-MS), DHX9 (Affinity Capture-MS), DNMT1 (Affinity Capture-MS)
ESM2 similar proteins: F3YDF1, F4JIN3, O13633, O36966, O59824, P14906, P32795, P34454, P40341, P42834, P43613, P54813, Q07914, Q0IIE8, Q0WT48, Q149L6, Q17433, Q17438, Q20748, Q28I38, Q2QUP1, Q4WI88, Q54QN1, Q58E03, Q58E76, Q59SI2, Q5B4H1, Q5HZT9, Q5R6H3, Q5RCP4, Q6BH37, Q6CEU0, Q6CNW2, Q6DDA1, Q6FPU1, Q6NVR9, Q6PAX2, Q6PBT7, Q759D2, Q78YY6
Diamond homologs: P42834, P91454, Q07914, Q3ZBN8, Q4I7T5, Q4WI88, Q54QN1, Q59SI2, Q5B4H1, Q5RCP4, Q5RF34, Q617M0, Q6BH37, Q6CEU0, Q6CNW2, Q6DDA1, Q6FPU1, Q6PBT7, Q759D2, Q78YY6, Q7RX75, Q8RV04, Q96DA6, Q9CQV7, Q9LYY2, Q9SF33, Q9UT37, Q9VTJ8, Q9Y5T4, A0A0D1E2P6, P42824, P42825, P43644, Q0JB88, Q94AW8, A4IR30, A9MXI3, B4T6D7, B4TIB5, B4TVZ6
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| DNAJC15 | “form complex” | “TIM23 complex” | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
61 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 35 |
| Likely benign | 7 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1085 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 13:43023730:GACTG:G | donor_gain | 1.0000 |
| 13:43023735:G:GG | donor_gain | 1.0000 |
| 13:43068921:A:AG | acceptor_gain | 1.0000 |
| 13:43068922:C:G | acceptor_gain | 1.0000 |
| 13:43068927:TAGG:T | acceptor_loss | 1.0000 |
| 13:43068928:A:AG | acceptor_gain | 1.0000 |
| 13:43068929:G:GG | acceptor_gain | 1.0000 |
| 13:43068929:GGTC:G | acceptor_gain | 1.0000 |
| 13:43068999:CTCCT:C | donor_gain | 1.0000 |
| 13:43069000:TCCT:T | donor_gain | 1.0000 |
| 13:43069000:TCCTG:T | donor_loss | 1.0000 |
| 13:43069001:CCT:C | donor_gain | 1.0000 |
| 13:43069001:CCTGT:C | donor_loss | 1.0000 |
| 13:43069002:CT:C | donor_gain | 1.0000 |
| 13:43069002:CTG:C | donor_loss | 1.0000 |
| 13:43069003:TGTA:T | donor_loss | 1.0000 |
| 13:43069004:G:GG | donor_gain | 1.0000 |
| 13:43069005:T:TC | donor_loss | 1.0000 |
| 13:43069006:AA:A | donor_loss | 1.0000 |
| 13:43069007:AGTTA:A | donor_loss | 1.0000 |
| 13:43069008:G:C | donor_loss | 1.0000 |
| 13:43069009:T:G | donor_gain | 1.0000 |
| 13:43085766:A:AG | acceptor_gain | 1.0000 |
| 13:43085767:G:GG | acceptor_gain | 1.0000 |
| 13:43023731:ACTG:A | donor_gain | 0.9900 |
| 13:43023732:CTG:C | donor_gain | 0.9900 |
| 13:43023733:TG:T | donor_gain | 0.9900 |
| 13:43023733:TGGT:T | donor_loss | 0.9900 |
| 13:43023734:GG:G | donor_gain | 0.9900 |
| 13:43023735:G:GA | donor_loss | 0.9900 |
AlphaMissense
957 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 13:43078639:T:C | F88L | 0.995 |
| 13:43078641:T:A | F88L | 0.995 |
| 13:43078641:T:G | F88L | 0.995 |
| 13:43107218:A:C | K141N | 0.994 |
| 13:43107218:A:T | K141N | 0.994 |
| 13:43085828:C:A | H124Q | 0.992 |
| 13:43085828:C:G | H124Q | 0.992 |
| 13:43107203:A:C | K136N | 0.992 |
| 13:43107203:A:T | K136N | 0.992 |
| 13:43107213:G:C | A140P | 0.990 |
| 13:43078640:T:G | F88C | 0.987 |
| 13:43085802:C:G | H116D | 0.987 |
| 13:43085825:T:A | N123K | 0.987 |
| 13:43085825:T:G | N123K | 0.987 |
| 13:43085826:C:G | H124D | 0.987 |
| 13:43107205:T:A | I137K | 0.987 |
| 13:43078679:T:C | L101S | 0.986 |
| 13:43107217:A:T | K141I | 0.986 |
| 13:43085799:G:C | A115P | 0.985 |
| 13:43078666:G:C | A97P | 0.983 |
| 13:43078667:C:A | A97D | 0.983 |
| 13:43078676:T:A | I100N | 0.983 |
| 13:43078640:T:C | F88S | 0.982 |
| 13:43078665:A:C | E96D | 0.981 |
| 13:43078665:A:T | E96D | 0.981 |
| 13:43078673:T:C | L99P | 0.980 |
| 13:43085827:A:G | H124R | 0.980 |
| 13:43078652:T:C | M92T | 0.979 |
| 13:43107205:T:G | I137R | 0.979 |
| 13:43107181:G:A | G129E | 0.977 |
dbSNP variants (sampled 300 via entrez): RS1000001561 (13:43051898 C>T), RS1000017042 (13:43024740 T>C), RS1000027301 (13:43103108 C>G), RS1000061408 (13:43102831 A>G), RS1000093772 (13:43060160 G>A), RS1000122674 (13:43048995 G>A), RS1000137970 (13:43058989 A>G), RS1000236134 (13:43095683 A>G), RS1000277473 (13:43054723 T>C), RS1000288023 (13:43080620 T>A,G), RS1000295504 (13:43041334 C>A,T), RS1000352736 (13:43043531 C>G,T), RS1000387499 (13:43053090 A>G), RS1000395982 (13:43047785 T>C), RS1000397169 (13:43054374 T>C)
Disease associations
OMIM: gene MIM:615339 | disease phenotypes: MIM:192350
GenCC curated gene-disease
Mondo (1): VACTERL/vater association (MONDO:0008642)
Orphanet (1): VACTERL/VATER association (Orphanet:887)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000477_45 | Cognitive performance | 9.000000e-06 |
| GCST008358_2 | Response to cognitive-behavioural therapy in anxiety and major depressive disorders | 5.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0003926 | neuropsychological test |
| EFO:0007820 | cognitive behavioural therapy |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 5 |
| Benzo(a)pyrene | affects methylation, decreases expression | 3 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases methylation | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| deguelin | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| abrine | decreases expression | 1 |
| pyrachlostrobin | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Decitabine | affects expression | 1 |
| Sunitinib | decreases expression | 1 |
| Atrazine | decreases expression | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Carbamazepine | affects expression | 1 |
| DDT | increases expression | 1 |
| Diclofenac | affects expression | 1 |
| Diuron | decreases expression | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Hydrogen Peroxide | increases expression, affects cotreatment | 1 |
| Phenobarbital | decreases expression | 1 |
| Progesterone | affects cotreatment, increases expression | 1 |
| Rotenone | increases expression | 1 |
| Smoke | decreases expression, increases abundance | 1 |
| Tetrachlorodibenzodioxin | decreases expression | 1 |
| Theophylline | affects cotreatment, increases expression | 1 |
| Isotretinoin | decreases expression | 1 |
Clinical trials (associated diseases)
1 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03799705 | Not specified | COMPLETED | Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): VACTERL/vater association