DNAJC15

gene
On 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

FieldValue
HGNC IDHGNC:20325
Approved symbolDNAJC15
NameDnaJ heat shock protein family (Hsp40) member C15
Location13q14.11
Locus typegene with protein product
StatusApproved
AliasesMCJ
Ensembl geneENSG00000120675
Ensembl biotypeprotein_coding
OMIM615339
Entrez29103

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

ExonStartEnd
ENSE000008172544307861243078688
ENSE000008172554308576843085838
ENSE000010016574310717843114213
ENSE000035198884302358643023734
ENSE000035462634306893043069003
ENSE000035587614306568643065737

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 IDTPM avgSamples expressed
13489762.18191675
1348952.8009786
1348960.8060393
1348940.3857149

Top tissues by expression

287 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
jejunal mucosaUBERON:000039997.37gold quality
seminal vesicleUBERON:000099896.36gold quality
heart right ventricleUBERON:000208095.77gold quality
corpus epididymisUBERON:000435994.66gold quality
oocyteCL:000002394.48gold quality
left ventricle myocardiumUBERON:000656694.48gold quality
myocardiumUBERON:000234994.41gold quality
tendon of biceps brachiiUBERON:000818893.88gold quality
adult organismUBERON:000702393.67gold quality
nephron tubuleUBERON:000123193.57gold quality
medial globus pallidusUBERON:000247793.55gold quality
colonic mucosaUBERON:000031793.26gold quality
duodenumUBERON:000211492.93gold quality
jejunumUBERON:000211592.87gold quality
palpebral conjunctivaUBERON:000181292.67gold quality
mucosa of sigmoid colonUBERON:000499392.43gold quality
cardiac muscle of right atriumUBERON:000337992.27gold quality
parotid glandUBERON:000183191.80gold quality
periodontal ligamentUBERON:000826691.65gold quality
ileal mucosaUBERON:000033191.44gold quality
endothelial cellCL:000011591.34gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451190.95gold quality
lower lobe of lungUBERON:000894990.91gold quality
caput epididymisUBERON:000435890.73gold quality
cauda epididymisUBERON:000436090.63gold quality
biceps brachiiUBERON:000150790.59gold quality
saphenous veinUBERON:000731890.57gold quality
cranial nerve IIUBERON:000094190.56gold quality
pigmented layer of retinaUBERON:000178290.49gold quality
endometriumUBERON:000129590.48gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 3.

ExperimentMarker?Max mean expression
E-MTAB-8559yes321.54
E-MTAB-8271yes7.28
E-MTAB-6819no1464.94
E-MTAB-10018no1051.78
E-ANND-3no0.00

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):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-6867-5P100.0082.213464
HSA-MIR-5193100.0067.261744
HSA-MIR-1213699.9872.815713
HSA-LET-7F-2-3P99.9870.982588
HSA-MIR-1185-1-3P99.9871.042593
HSA-MIR-1185-2-3P99.9871.042593
HSA-MIR-3065-5P99.9771.563281
HSA-MIR-50799.9770.111915
HSA-MIR-302C-5P99.9772.563642
HSA-MIR-570-3P99.9672.414910
HSA-MIR-365899.9673.874379
HSA-MIR-55799.9670.011640
HSA-MIR-101-3P99.9475.032230
HSA-MIR-9983-3P99.9471.483631
HSA-MIR-314399.9371.963104
HSA-MIR-4760-3P99.9370.502385
HSA-MIR-311999.9271.342390
HSA-MIR-589-3P99.9169.622088
HSA-MIR-6499-3P99.9066.381212
HSA-MIR-627-3P99.9071.423316
HSA-MIR-990299.8969.152250
HSA-MIR-95-5P99.8972.173973
HSA-MIR-153-5P99.8973.866317
HSA-MIR-137-3P99.8774.742401
HSA-MIR-6875-3P99.8270.262983
HSA-MIR-205-5P99.8170.051557
HSA-MIR-6505-5P99.7369.251595
HSA-MIR-442899.7366.411733
HSA-MIR-471999.7372.103329
HSA-MIR-1296-3P99.7264.04636

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

OrganismSymbolGene ID
danio_reriodnajc15ENSDARG00000038309
mus_musculusDnajc15ENSMUSG00000022013
rattus_norvegicusDnajc15ENSRNOG00000009063
drosophila_melanogasterCG7394FBGN0036173
caenorhabditis_elegansdnj-21WBGENE00001039

Paralogs (1): DNAJC19 (ENSG00000205981)

Protein

Protein identifiers

DnaJ homolog subfamily C member 15Q9Y5T4 (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)

IDNameType
IPR001623DnaJ_domainDomain
IPR036869J_dom_sfHomologous_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)

ModelpLDDTFraction very-high
AF-Q9Y5T4-F178.660.47

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:

CategoryTerms
intracellular protein localization2
inner mitochondrial membrane protein complex2
aerobic electron transport chain1
mitochondrial ATP synthesis coupled electron transport1
protein transport1
intracellular transport1
cellular response to nutrient levels1
cellular response to stress1
response to starvation1
lipid metabolic process1
regulation of primary metabolic process1
protein transmembrane import into intracellular organelle1
protein localization to mitochondrion1
import into the mitochondrion1
mitochondrial protein import pathway1
regulation of protein-containing complex assembly1
negative regulation of cellular component organization1
protein-containing complex assembly1
cellular component assembly1
protein-containing complex organization1
mitochondrial electron transport, NADH to ubiquinone1
regulation of mitochondrial electron transport, NADH to ubiquinone1
negative regulation of mitochondrial ATP synthesis coupled electron transport1
transport1
establishment of protein localization1
ATP-dependent activity1
molecular function activator activity1
binding1
TIM23 mitochondrial import inner membrane translocase complex1
mitochondrial matrix1
cytoplasm1
intracellular membrane-bounded organelle1
organelle inner membrane1
mitochondrial membrane1
cellular anatomical structure1

Protein interactions and networks

STRING

1234 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
DNAJC15TIMM44O43615817
DNAJC15PAM16Q9Y3D7810
DNAJC15HSPA9P30036726
DNAJC15PPIFP30405712
DNAJC15GRPEL1Q9HAV7659
DNAJC15DNAJC19Q96DA6559
DNAJC15TIMM21Q9BVV7532
DNAJC15DNAJC1Q96KC8512
DNAJC15DNAJC9Q8WXX5501
DNAJC15TIMM17BO60830500
DNAJC15TIMM50Q3ZCQ8499
DNAJC15TIMM17AQ99595498
DNAJC15DNAJC25Q9H1X3497
DNAJC15FAM216BQ8N7L0478
DNAJC15DNAJC12Q9UKB3476
DNAJC15PSMA6P34062476

IntAct

19 interactions, top by confidence:

ABTypeScore
DNAJC15PAM16psi-mi:“MI:0915”(physical association)0.710
TIMM17BTIMM23psi-mi:“MI:0914”(association)0.670
SIAH1DNAJC15psi-mi:“MI:0915”(physical association)0.560
DNAJC15FAM9Bpsi-mi:“MI:0915”(physical association)0.560
DNAJC15SIAH1psi-mi:“MI:0915”(physical association)0.560
SLC39A4TMEM120Bpsi-mi:“MI:0914”(association)0.530
HSPA9psi-mi:“MI:0882”(atpase reaction)0.440
DNAJC15TIMM17Bpsi-mi:“MI:0914”(association)0.350
DNAJC15GAPDHSpsi-mi:“MI:0914”(association)0.350
SAAL1TMEM223psi-mi:“MI:0914”(association)0.350
ATF5IGF2BP3psi-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.

AEffectBMechanism
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):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance35
Likely benign7
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1085 predictions. Top by Δscore:

VariantEffectΔscore
13:43023730:GACTG:Gdonor_gain1.0000
13:43023735:G:GGdonor_gain1.0000
13:43068921:A:AGacceptor_gain1.0000
13:43068922:C:Gacceptor_gain1.0000
13:43068927:TAGG:Tacceptor_loss1.0000
13:43068928:A:AGacceptor_gain1.0000
13:43068929:G:GGacceptor_gain1.0000
13:43068929:GGTC:Gacceptor_gain1.0000
13:43068999:CTCCT:Cdonor_gain1.0000
13:43069000:TCCT:Tdonor_gain1.0000
13:43069000:TCCTG:Tdonor_loss1.0000
13:43069001:CCT:Cdonor_gain1.0000
13:43069001:CCTGT:Cdonor_loss1.0000
13:43069002:CT:Cdonor_gain1.0000
13:43069002:CTG:Cdonor_loss1.0000
13:43069003:TGTA:Tdonor_loss1.0000
13:43069004:G:GGdonor_gain1.0000
13:43069005:T:TCdonor_loss1.0000
13:43069006:AA:Adonor_loss1.0000
13:43069007:AGTTA:Adonor_loss1.0000
13:43069008:G:Cdonor_loss1.0000
13:43069009:T:Gdonor_gain1.0000
13:43085766:A:AGacceptor_gain1.0000
13:43085767:G:GGacceptor_gain1.0000
13:43023731:ACTG:Adonor_gain0.9900
13:43023732:CTG:Cdonor_gain0.9900
13:43023733:TG:Tdonor_gain0.9900
13:43023733:TGGT:Tdonor_loss0.9900
13:43023734:GG:Gdonor_gain0.9900
13:43023735:G:GAdonor_loss0.9900

AlphaMissense

957 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
13:43078639:T:CF88L0.995
13:43078641:T:AF88L0.995
13:43078641:T:GF88L0.995
13:43107218:A:CK141N0.994
13:43107218:A:TK141N0.994
13:43085828:C:AH124Q0.992
13:43085828:C:GH124Q0.992
13:43107203:A:CK136N0.992
13:43107203:A:TK136N0.992
13:43107213:G:CA140P0.990
13:43078640:T:GF88C0.987
13:43085802:C:GH116D0.987
13:43085825:T:AN123K0.987
13:43085825:T:GN123K0.987
13:43085826:C:GH124D0.987
13:43107205:T:AI137K0.987
13:43078679:T:CL101S0.986
13:43107217:A:TK141I0.986
13:43085799:G:CA115P0.985
13:43078666:G:CA97P0.983
13:43078667:C:AA97D0.983
13:43078676:T:AI100N0.983
13:43078640:T:CF88S0.982
13:43078665:A:CE96D0.981
13:43078665:A:TE96D0.981
13:43078673:T:CL99P0.980
13:43085827:A:GH124R0.980
13:43078652:T:CM92T0.979
13:43107205:T:GI137R0.979
13:43107181:G:AG129E0.977

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):

StudyTraitp-value
GCST000477_45Cognitive performance9.000000e-06
GCST008358_2Response to cognitive-behavioural therapy in anxiety and major depressive disorders5.000000e-06

EFO canonical traits (2, from GWAS)

EFO IDTrait name
EFO:0003926neuropsychological test
EFO:0007820cognitive 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.

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects cotreatment, increases expression, affects expression5
Benzo(a)pyreneaffects methylation, decreases expression3
Air Pollutantsdecreases expression, increases abundance2
methylmercuric chloridedecreases expression1
triphenyl phosphateaffects expression1
bisphenol Adecreases methylation1
potassium chromate(VI)decreases expression1
deguelinincreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
abrinedecreases expression1
pyrachlostrobinincreases expression1
dorsomorphinaffects cotreatment, increases expression1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acidincreases expression1
Decitabineaffects expression1
Sunitinibdecreases expression1
Atrazinedecreases expression1
Cadmiumdecreases expression, increases abundance1
Carbamazepineaffects expression1
DDTincreases expression1
Diclofenacaffects expression1
Diurondecreases expression1
Estradiolaffects cotreatment, increases expression1
Hydrogen Peroxideincreases expression, affects cotreatment1
Phenobarbitaldecreases expression1
Progesteroneaffects cotreatment, increases expression1
Rotenoneincreases expression1
Smokedecreases expression, increases abundance1
Tetrachlorodibenzodioxindecreases expression1
Theophyllineaffects cotreatment, increases expression1
Isotretinoindecreases expression1

Clinical trials (associated diseases)

1 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT03799705Not specifiedCOMPLETEDGenetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): VACTERL/vater association