DNAJC1

Summary

DNAJC1 (DnaJ heat shock protein family (Hsp40) member C1, HGNC:20090) is a protein-coding gene on chromosome 10p12.31, encoding DnaJ homolog subfamily C member 1 (Q96KC8). May modulate protein synthesis.

The membrane protein encoded by this gene is a DNAJ-like heat shock protein that binds the molecular chaperone BiP. In addition, the encoded protein contains two SANT domains that have been shown to bind serpin alpha1-antichymotrypsin and inter-alpha trypsin inhibitor heavy chain 4.

Source: NCBI Gene 64215 — RefSeq curated summary.

At a glance

• GWAS associations: 23
• Clinical variants (ClinVar): 94 total
• MANE Select transcript: NM_022365

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20090
Approved symbol	DNAJC1
Name	DnaJ heat shock protein family (Hsp40) member C1
Location	10p12.31
Locus type	gene with protein product
Status	Approved
Aliases	DNAJL1, ERdj1, MTJ1
Ensembl gene	ENSG00000136770
Ensembl biotype	protein_coding
OMIM	611207
Entrez	64215

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 10 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000376946, ENST00000376980, ENST00000447548, ENST00000476103, ENST00000483085, ENST00000883424, ENST00000883425, ENST00000883426, ENST00000883427, ENST00000883428, ENST00000883429, ENST00000963963, ENST00000963964, ENST00000963965

RefSeq mRNA: 1 — MANE Select: NM_022365 NM_022365

CCDS: CCDS7136

Canonical transcript exons

ENST00000376980 — 12 exons

Exon	Start	End
ENSE00000985308	21904522	21904612
ENSE00000985309	21882282	21882439
ENSE00000985312	21759170	21759618
ENSE00001092009	21918779	21918872
ENSE00001092011	21919832	21919929
ENSE00001472326	21756548	21756755
ENSE00001940957	22003213	22003730
ENSE00003578087	21805980	21806099
ENSE00003579669	21766261	21766309
ENSE00003689081	21920798	21920963
ENSE00003755754	21929040	21929141
ENSE00003759943	21928506	21928552

Expression profiles

Bgee: expression breadth ubiquitous, 278 present calls, max score 99.86.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.8964 / max 437.1018, expressed in 1817 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
108639	24.9087	1817
108638	0.9875	582
108640	0.6161	399
108637	0.3841	185

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	99.86	gold quality
pylorus	UBERON:0001166	99.24	gold quality
cardia of stomach	UBERON:0001162	98.68	gold quality
oocyte	CL:0000023	98.28	gold quality
parotid gland	UBERON:0001831	98.24	gold quality
lower lobe of lung	UBERON:0008949	98.24	gold quality
mammary duct	UBERON:0001765	97.76	gold quality
pericardium	UBERON:0002407	97.65	gold quality
renal medulla	UBERON:0000362	97.60	gold quality
mucosa of paranasal sinus	UBERON:0005030	97.58	gold quality
tibia	UBERON:0000979	97.57	gold quality
jejunal mucosa	UBERON:0000399	97.44	gold quality
cauda epididymis	UBERON:0004360	97.44	gold quality
sperm	CL:0000019	97.21	gold quality
superficial temporal artery	UBERON:0001614	97.20	gold quality
pigmented layer of retina	UBERON:0001782	97.19	gold quality
nipple	UBERON:0002030	97.06	gold quality
visceral pleura	UBERON:0002401	96.95	gold quality
trabecular bone tissue	UBERON:0002483	96.60	gold quality
tendon of biceps brachii	UBERON:0008188	96.34	gold quality
esophagus squamous epithelium	UBERON:0006920	96.32	gold quality
oral cavity	UBERON:0000167	96.27	gold quality
superior surface of tongue	UBERON:0007371	96.22	gold quality
epithelium of nasopharynx	UBERON:0001951	96.19	gold quality
caput epididymis	UBERON:0004358	96.06	gold quality
urethra	UBERON:0000057	96.00	gold quality
trachea	UBERON:0003126	95.91	gold quality
palpebral conjunctiva	UBERON:0001812	95.82	gold quality
gingiva	UBERON:0001828	95.82	gold quality
saphenous vein	UBERON:0007318	95.76	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-CURD-88	yes	80.11
E-HCAD-4	yes	38.65
E-CURD-122	yes	36.98
E-CURD-46	yes	32.00
E-MTAB-8410	yes	28.21
E-ANND-3	yes	22.04
E-MTAB-8271	no	522.74

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
VEGFA

miRNA regulators (miRDB)

32 targeting DNAJC1, 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-4795-3P	100.00	74.62	4024
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-3662	99.99	73.82	5684
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-3148	99.97	75.06	6478
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-544A	99.84	68.66	1965
HSA-MIR-202-3P	99.84	71.41	1290
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-20A-3P	99.44	69.10	1575
HSA-MIR-5589-3P	99.29	68.30	1443
HSA-MIR-5582-5P	99.27	71.42	1879
HSA-MIR-3978	99.24	68.39	2201
HSA-MIR-664A-3P	99.22	71.08	2696
HSA-MIR-6738-3P	99.03	67.14	1326
HSA-MIR-7850-5P	98.12	67.28	1111

Literature-anchored findings (GeneRIF, showing 3)

• ITIH4 and MTJ1 co-immunoprecipitate from total liver protein extracts and SANT domain of HTJ1 protects the ITIH4(588-930) recombinant fragment (PMID:16271702)
• Our results provide evidence for new loci influencing abdominal visceral (BBS9, ADCY8, KCNK9) and subcutaneous (MLLT10/DNAJC1/EBLN1) fat, and confirmed a locus (THNSL2) previously reported to be associated with abdominal fat in women. (PMID:26480920)
• DNAJC1 facilitates glioblastoma progression by promoting extracellular matrix reorganization and macrophage infiltration. (PMID:38909166)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	dnajc1	ENSDARG00000001940
mus_musculus	Dnajc1	ENSMUSG00000026740
rattus_norvegicus	Dnajc1	ENSRNOG00000000150
drosophila_melanogaster	CG7556	FBGN0030990
caenorhabditis_elegans		WBGENE00001020
caenorhabditis_elegans		WBGENE00001025
caenorhabditis_elegans	dnj-28	WBGENE00001046
caenorhabditis_elegans		WBGENE00008122

Paralogs (20): DNAJC11 (ENSG00000007923), DNAJC25 (ENSG00000059769), DNAJC10 (ENSG00000077232), DNAJC5 (ENSG00000101152), DNAJC3 (ENSG00000102580), DNAJC17 (ENSG00000104129), DNAJC2 (ENSG00000105821), DNAJC12 (ENSG00000108176), DNAJC4 (ENSG00000110011), DNAJC16 (ENSG00000116138), DNAJC14 (ENSG00000135392), DNAJC13 (ENSG00000138246), DNAJC5B (ENSG00000147570), DNAJC5G (ENSG00000163793), DNAJC7 (ENSG00000168259), DNAJC21 (ENSG00000168724), DNAJC18 (ENSG00000170464), DNAJC24 (ENSG00000170946), DNAJC30 (ENSG00000176410), DNAJC9 (ENSG00000213551)

Protein

Protein identifiers

DnaJ homolog subfamily C member 1 — Q96KC8 (reviewed: Q96KC8)

Alternative names: DnaJ protein homolog MTJ1

All UniProt accessions (2): Q96KC8, Q5T1X2

UniProt curated annotations — full annotation on UniProt →

Function. May modulate protein synthesis.

Subunit / interactions. Interacts (via J domain) with HSPA5. Interacts (via cytosolic domain) with ribosomes. Interacts (via SANT 2 domain) with SERPINA3; the interaction delays the formation of the covalent inhibitory complex SERPINA3-chymotrypsin, but does not alter the catalytic activity of SERPINA3. Interacts (via SANT 2 domain) with ITIH4 (via C-terminus); the interaction protects ITIH4 against in vitro cleavage by kallikrein.

Subcellular location. Endoplasmic reticulum membrane. Nucleus membrane. Microsome membrane.

RefSeq proteins (1): NP_071760* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001005	SANT/Myb	Domain
IPR001623	DnaJ_domain	Domain
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR017884	SANT_dom	Domain
IPR018253	DnaJ_domain_CS	Conserved_site
IPR036869	J_dom_sf	Homologous_superfamily
IPR052606	DnaJ_domain_protein	Family

Pfam: PF00226, PF23082

UniProt features (30 total): helix 7, modified residue 6, compositionally biased region 5, domain 3, topological domain 2, strand 2, signal peptide 1, chain 1, turn 1, transmembrane region 1, region of interest 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
2CQQ	SOLUTION NMR
2CQR	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96KC8-F1	71.45	0.30

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 (6): 381, 430, 479, 480, 484, 492

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 226 (showing top): GOBP_NEGATIVE_REGULATION_OF_PROTEOLYSIS, DARWICHE_SKIN_TUMOR_PROMOTER_UP, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_UP, DARWICHE_SQUAMOUS_CELL_CARCINOMA_UP, CAGCTG_AP4_Q5, GOBP_TRANSLATION, EVI1_05, GTGCCTT_MIR506, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOBP_REGULATION_OF_PROTEIN_SECRETION, GOBP_PROTEIN_MATURATION, FOSTER_TOLERANT_MACROPHAGE_DN, SMID_BREAST_CANCER_LUMINAL_B_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN

GO Biological Process (5): regulation of translation (GO:0006417), protein folding (GO:0006457), negative regulation of proteolysis (GO:0045861), regulation of protein secretion (GO:0050708), regulation of protein metabolic process (GO:0051246)

GO Molecular Function (4): ATPase activator activity (GO:0001671), DNA binding (GO:0003677), protein-folding chaperone binding (GO:0051087), protein binding (GO:0005515)

GO Cellular Component (7): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), endomembrane system (GO:0012505), membrane (GO:0016020), nuclear membrane (GO:0031965), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membrane-bounded organelle	2
organelle membrane	2
cellular anatomical structure	2
translation	1
post-transcriptional regulation of gene expression	1
regulation of protein metabolic process	1
cellular process	1
protein maturation	1
proteolysis	1
regulation of proteolysis	1
negative regulation of protein metabolic process	1
protein secretion	1
regulation of protein transport	1
regulation of secretion by cell	1
protein metabolic process	1
regulation of macromolecule metabolic process	1
regulation of primary metabolic process	1
ATP-dependent activity	1
molecular function activator activity	1
nucleic acid binding	1
protein binding	1
binding	1
cytoplasm	1
endomembrane system	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
membrane	1
cell periphery	1
vacuole	1
plasma membrane	1
nucleus	1
nuclear envelope	1

Protein interactions and networks

STRING

1810 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DNAJC1	HSPA5	P11021	960
DNAJC1	CTRB2	Q6GPI1	767
DNAJC1	CTRB1	P17538	754
DNAJC1	SERPINA3	P01011	746
DNAJC1	SEC63	Q9UGP8	656
DNAJC1	GPR78	Q96P69	559
DNAJC1	DNAJC12	Q9UKB3	525
DNAJC1	DNAJB11	Q9UBS4	524
DNAJC1	DNAJC6	O75061	523
DNAJC1	HSP90B1	P14625	518
DNAJC1	DNAJC15	Q9Y5T4	512
DNAJC1	COMTD1	Q86VU5	510
DNAJC1	GAK	O14976	461
DNAJC1	DNAJC28	Q9NX36	456
DNAJC1	DNAJC27	Q9NZQ0	453

IntAct

113 interactions, top by confidence:

A	B	Type	Score
ENTREP1	WWP2	psi-mi:“MI:0914”(association)	0.850
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
SERPINA3	DNAJC1	psi-mi:“MI:0915”(physical association)	0.580
CMTM7	DNAJC1	psi-mi:“MI:0915”(physical association)	0.560
ATP6V0C	DNAJC1	psi-mi:“MI:0915”(physical association)	0.560
TMEM201	DNAJC1	psi-mi:“MI:0915”(physical association)	0.560
PLP2	DNAJC1	psi-mi:“MI:0915”(physical association)	0.560
CYP4F2	DNAJC1	psi-mi:“MI:0915”(physical association)	0.560
AGTRAP	DNAJC1	psi-mi:“MI:0915”(physical association)	0.560
TNFRSF10C	DNAJC1	psi-mi:“MI:0915”(physical association)	0.560
DNAJC1	LAMP2	psi-mi:“MI:0915”(physical association)	0.560
DNAJC1	SH3GLB1	psi-mi:“MI:0915”(physical association)	0.560
DNAJC1	RMND1	psi-mi:“MI:0915”(physical association)	0.560
EVA1C	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
GPC3	CLGN	psi-mi:“MI:0914”(association)	0.530
HEATR3	SLC27A2	psi-mi:“MI:0914”(association)	0.530
FGG	KDM1A	psi-mi:“MI:0914”(association)	0.530
EVA1C	STK25	psi-mi:“MI:0914”(association)	0.530

BioGRID (452): DNAJC1 (Affinity Capture-MS), DNAJC1 (Affinity Capture-MS), DNAJC1 (Affinity Capture-MS), DNAJC1 (Affinity Capture-MS), DNAJC1 (Affinity Capture-MS), DNAJC1 (Two-hybrid), DNAJC1 (Affinity Capture-MS), DNAJC1 (Co-fractionation), DNAJC1 (Co-fractionation), DNAJC1 (Proximity Label-MS), DNAJC1 (Proximity Label-MS), DNAJC1 (Proximity Label-MS), HSPA5 (Reconstituted Complex), DNAJC1 (Affinity Capture-MS), DNAJC1 (Affinity Capture-MS)

ESM2 similar proteins: A1YVX4, A2ALW5, A3KMI0, A5DTG8, F4JIN3, O13633, O88379, P09758, P34454, P41229, P43613, P70302, P83093, P84903, P92029, Q0WT48, Q13586, Q149L6, Q17433, Q19293, Q28056, Q28I38, Q2QUP1, Q38JA7, Q3UZP0, Q58CP9, Q58E03, Q5BJW9, Q5EA26, Q5HZT9, Q61712, Q6PGC1, Q7XVN7, Q7Z478, Q7ZXQ8, Q8GUN6, Q8IMZ9, Q90830, Q91WT4, Q95KD5

Diamond homologs: A0A0P0VG31, A0LJ41, A1BHL1, A3QGW1, A4IR30, A6ZQH0, A7GT07, A7TGR0, A8F0U0, A8GMF8, A8GR21, A9IGC5, A9KE65, A9NDK6, A9VHU0, B0BWH0, B0UWR3, B1HUD0, B1YKT0, B2RLJ0, B7HCT9, B7HPL2, B7IYG6, B7JN38, B8CXL0, B8FUN3, B9DNJ9, B9E6X0, B9IY80, C1ESK7, C3L5R6, C3P8L9, C3PMM6, C4K111, C5D4U0, O52065, O75953, O89114, P0CW06, P0CW07

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 107 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Signaling by SCF-KIT	5	18.8×	3e-04
R-HSA-425366	5	13.7×	8e-04
Signaling by BRAF and RAF1 fusions	5	12.9×	8e-04
SLC-mediated transmembrane transport	7	6.3×	1e-03
Neutrophil degranulation	10	3.5×	3e-03
Transport of small molecules	9	3.4×	7e-03

GO biological processes:

GO term	Partners	Fold	FDR
ERAD pathway	6	11.4×	1e-02

Disease & clinical

Clinical variants and AI predictions

ClinVar

94 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	73
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3159 predictions. Top by Δscore:

Variant	Effect	Δscore
10:21766256:CTCA:C	donor_loss	1.0000
10:21766257:TCA:T	donor_loss	1.0000
10:21766258:CACCT:C	donor_loss	1.0000
10:21766260:C:CA	donor_loss	1.0000
10:21803903:T:TA	donor_gain	1.0000
10:21805979:CAT:C	donor_gain	1.0000
10:21806058:T:TA	donor_gain	1.0000
10:21806109:A:C	acceptor_gain	1.0000
10:21882278:TTAC:T	donor_loss	1.0000
10:21882279:TAC:T	donor_loss	1.0000
10:21882280:ACC:A	donor_loss	1.0000
10:21882440:C:CC	acceptor_gain	1.0000
10:21904514:AAACT:A	donor_loss	1.0000
10:21904515:AACTC:A	donor_loss	1.0000
10:21904516:ACTCA:A	donor_loss	1.0000
10:21904517:CTCAC:C	donor_loss	1.0000
10:21904518:T:TA	donor_loss	1.0000
10:21904519:C:CC	donor_loss	1.0000
10:21904520:A:AC	donor_gain	1.0000
10:21904520:A:C	donor_loss	1.0000
10:21904521:C:CA	donor_gain	1.0000
10:21904521:CT:C	donor_gain	1.0000
10:21904612:CCT:C	acceptor_gain	1.0000
10:21904613:C:CC	acceptor_gain	1.0000
10:21904614:T:C	acceptor_gain	1.0000
10:21918872:TC:T	acceptor_loss	1.0000
10:21918873:C:CA	acceptor_loss	1.0000
10:21918873:C:CC	acceptor_gain	1.0000
10:21918874:T:C	acceptor_loss	1.0000
10:21919826:TCTCA:T	donor_loss	1.0000

AlphaMissense

3593 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:21806019:C:A	W353C	1.000
10:21806019:C:G	W353C	1.000
10:21806021:A:G	W353R	1.000
10:21806021:A:T	W353R	1.000
10:21920832:G:T	A168D	1.000
10:21920904:C:A	R144M	1.000
10:21920927:C:A	W136C	1.000
10:21920927:C:G	W136C	1.000
10:21920929:A:G	W136R	1.000
10:21920929:A:T	W136R	1.000
10:21928511:C:A	R122S	1.000
10:21928511:C:G	R122S	1.000
10:21928530:A:G	L116S	1.000
10:21929046:A:C	F106L	1.000
10:21929046:A:T	F106L	1.000
10:21929047:A:C	F106C	1.000
10:21929047:A:G	F106S	1.000
10:21929048:A:C	F106V	1.000
10:21929048:A:G	F106L	1.000
10:21929076:C:A	K96N	1.000
10:21929076:C:G	K96N	1.000
10:21929083:G:T	P94Q	1.000
10:21929085:A:C	H93Q	1.000
10:21929085:A:T	H93Q	1.000
10:21929086:T:C	H93R	1.000
10:21929087:G:C	H93D	1.000
10:21929087:G:T	H93N	1.000
10:21929095:A:G	L90P	1.000
10:21929107:C:G	R86P	1.000
10:21929108:G:T	R86S	1.000

dbSNP variants (sampled 300 via entrez): RS1000010805 (10:21792706 C>T), RS1000015426 (10:21922308 A>T), RS1000017117 (10:21959455 G>A), RS1000038054 (10:21850271 G>A), RS1000046349 (10:21922085 T>G), RS1000063172 (10:21792425 T>C), RS1000069612 (10:21959291 ATT>A,AT,ATTT), RS1000100379 (10:21837086 T>C,G), RS1000104070 (10:21891696 T>C), RS1000110212 (10:21777341 AG>A), RS1000114077 (10:21820831 A>G), RS1000122992 (10:21896989 C>T), RS1000131014 (10:21923687 T>C), RS1000162810 (10:21940887 C>A), RS1000177903 (10:21934427 A>C)

Disease associations

OMIM: gene MIM:611207 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

23 associations (top):

Study	Trait	p-value
GCST001937_11	Breast cancer	4.000000e-14
GCST001937_63	Breast cancer	9.000000e-16
GCST001941_14	Ovarian cancer	2.000000e-08
GCST001941_15	Ovarian cancer	1.000000e-07
GCST003170_6	Subcutaneous adipose tissue	1.000000e-08
GCST004988_224	Breast cancer	2.000000e-19
GCST004988_273	Breast cancer	6.000000e-18
GCST007507_11	Benign prostatic hyperplasia and lower urinary tract symptoms	1.000000e-22
GCST008790_37	Urinary albumin-to-creatinine ratio	4.000000e-08
GCST008794_54	Urinary albumin-to-creatinine ratio	2.000000e-08
GCST010135_27	Oily fish consumption	2.000000e-19
GCST010136_13	Fruit consumption	1.000000e-08
GCST010136_20	Fruit consumption	3.000000e-08
GCST010136_26	Fruit consumption	5.000000e-20
GCST010138_13	Raw vegetable consumption	2.000000e-11
GCST010140_44	Pork consumption	2.000000e-19
GCST010142_54	Fish- and plant-related diet	8.000000e-17
GCST010142_65	Fish- and plant-related diet	5.000000e-11
GCST010142_85	Fish- and plant-related diet	2.000000e-24
GCST010703_303	Brain morphology (MOSTest)	1.000000e-27
GCST010774_18	Essential hypertension (time to event)	1.000000e-08
GCST010797_11	Breast cancer, ovarian cancer or prostate cancer (pleiotropy)	3.000000e-10
GCST011351_16	Aspartate aminotransferase levels	2.000000e-09

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0008008	lower urinary tract symptom
EFO:0007778	urinary albumin to creatinine ratio
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement
EFO:0004918	age at diagnosis
EFO:0004736	aspartate aminotransferase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

46 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases methylation, affects cotreatment, increases expression, affects expression	9
Cyclosporine	affects expression, increases expression, affects cotreatment	5
trichostatin A	affects cotreatment, increases expression	3
bisphenol A	affects expression, increases methylation	2
sodium arsenite	decreases expression, increases expression	2
(+)-JQ1 compound	increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tretinoin	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
dicrotophos	decreases expression	1
bis(tri-n-butyltin)oxide	increases expression	1
deoxynivalenol	increases expression	1
geraniol	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
butyraldehyde	increases expression	1
nickel sulfate	decreases expression	1
coumarin	decreases phosphorylation	1
nefazodone	affects cotreatment, increases expression	1
di-n-butylphosphoric acid	affects 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	increases expression	1
dorsomorphin	increases expression, affects cotreatment	1
Acetaminophen	increases expression	1
Arsenates	affects cotreatment, increases expression	1
Atrazine	affects cotreatment, increases expression	1
Benzo(a)pyrene	decreases expression	1
Chenodeoxycholic Acid	affects cotreatment, increases expression	1
Cholic Acids	affects cotreatment, affects expression	1
Cisplatin	increases expression	1

Clinical trials (associated diseases)

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