DNAJB9

Summary

DNAJB9 (DnaJ heat shock protein family (Hsp40) member B9, HGNC:6968) is a protein-coding gene on chromosome 7q31.1, encoding DnaJ homolog subfamily B member 9 (Q9UBS3). Co-chaperone for Hsp70 protein HSPA5/BiP that acts as a key repressor of the ERN1/IRE1-mediated unfolded protein response (UPR).

This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. This gene is a member of the type 2 subgroup of DnaJ proteins. The encoded protein is localized to the endoplasmic reticulum. This protein is induced by endoplasmic reticulum stress and plays a role in protecting stressed cells from apoptosis.

Source: NCBI Gene 4189 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 46 total
• MANE Select transcript: NM_012328

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6968
Approved symbol	DNAJB9
Name	DnaJ heat shock protein family (Hsp40) member B9
Location	7q31.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000128590
Ensembl biotype	protein_coding
OMIM	602634
Entrez	4189

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 5 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000249356, ENST00000465725, ENST00000491582, ENST00000860473, ENST00000860474, ENST00000860475, ENST00000860476

RefSeq mRNA: 1 — MANE Select: NM_012328 NM_012328

CCDS: CCDS5752

Canonical transcript exons

ENST00000249356 — 3 exons

Exon	Start	End
ENSE00000881827	108571717	108571943
ENSE00001204258	108572899	108574850
ENSE00001942192	108569874	108570103

Expression profiles

Bgee: expression breadth ubiquitous, 299 present calls, max score 98.16.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 40.0861 / max 919.2817, expressed in 1816 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
80492	36.4374	1813
80493	3.0781	1351
80494	0.2519	102
80490	0.1799	54
80491	0.1387	34

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
choroid plexus epithelium	UBERON:0003911	98.16	gold quality
cartilage tissue	UBERON:0002418	97.91	gold quality
body of pancreas	UBERON:0001150	97.63	gold quality
nephron tubule	UBERON:0001231	97.50	gold quality
type B pancreatic cell	CL:0000169	97.38	gold quality
islet of Langerhans	UBERON:0000006	97.15	gold quality
germinal epithelium of ovary	UBERON:0001304	97.09	gold quality
pancreas	UBERON:0001264	96.93	gold quality
epithelial cell of pancreas	CL:0000083	96.87	gold quality
corpus epididymis	UBERON:0004359	96.78	gold quality
renal glomerulus	UBERON:0000074	96.68	gold quality
decidua	UBERON:0002450	96.59	gold quality
metanephric glomerulus	UBERON:0004736	96.57	gold quality
seminal vesicle	UBERON:0000998	96.43	gold quality
placenta	UBERON:0001987	96.42	gold quality
kidney epithelium	UBERON:0004819	96.24	gold quality
periodontal ligament	UBERON:0008266	96.18	gold quality
pericardium	UBERON:0002407	96.17	gold quality
endothelial cell	CL:0000115	96.13	gold quality
heart right ventricle	UBERON:0002080	96.05	gold quality
sperm	CL:0000019	95.90	gold quality
parietal pleura	UBERON:0002400	95.88	gold quality
caput epididymis	UBERON:0004358	95.84	gold quality
parotid gland	UBERON:0001831	95.83	gold quality
right lobe of liver	UBERON:0001114	95.74	gold quality
pancreatic ductal cell	CL:0002079	95.72	gold quality
myocardium	UBERON:0002349	95.36	gold quality
pleura	UBERON:0000977	95.34	gold quality
liver	UBERON:0002107	95.31	gold quality
pituitary gland	UBERON:0000007	95.12	gold quality

Single-cell (SCXA)

Detected in 14 experiment(s), a significant marker in 11.

Experiment	Marker?	Max mean expression
E-MTAB-9154	yes	2323.20
E-MTAB-6075	yes	482.06
E-CURD-88	yes	264.59
E-MTAB-8410	yes	54.21
E-HCAD-4	yes	49.26
E-CURD-46	yes	48.55
E-HCAD-1	yes	42.93
E-HCAD-11	yes	27.71
E-MTAB-5061	yes	14.23
E-MTAB-10553	yes	13.41
E-GEOD-110499	no	2687.39
E-MTAB-6379	no	1274.66
E-GEOD-100618	no	565.95
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ATF4, ATF6, GLI1, XBP1

miRNA regulators (miRDB)

139 targeting DNAJB9, 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-8485	100.00	77.57	4731
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-1193	100.00	65.93	529
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-6835-3P	99.93	70.49	2904

Literature-anchored findings (GeneRIF, showing 13)

• ERdj4 and ERdj5 promote turnover of misfolded SP-C and this activity is dependent on their ability to stimulate BiP ATPase activity. (PMID:18400946)
• these results demonstrate that DNAJB9 is a downstream target of p53 that belongs to the group of negative feedback regulators of p53. (PMID:25146923)
• Study reports that the endoplasmic reticulum luminal co-chaperone ERdj4/DNAJB9 is a selective IRE1 repressor that promotes a complex between the luminal Hsp70 BiP and the luminal stress-sensing domain of IRE1alpha. (PMID:29198525)
• Study detected a 4-fold higher abundance of serum DNAJB9 in fibrillary glomerulonephritis (FGN) patients when compared to controls, including patients with other glomerular diseases. Serum DNAJB9 levels were also negatively associated with estimated glomerular filtration rate in patients with FGN. (PMID:31010480)
• New developments in the diagnosis of fibrillary glomerulonephritis. (PMID:31227146)
• Targeting DNAJB9, a novel ER luminal co-chaperone, to rescue DeltaF508-CFTR. (PMID:31285458)
• these observations support a competition model whereby waning ER stress passively partitions ERdj4 and BiP to IRE1(LD) to initiate active repression of UPR signalling. (PMID:31873072)
• Long non-coding RNA SNHG5 regulates chemotherapy resistance through the miR-32/DNAJB9 axis in acute myeloid leukemia. (PMID:31884339)
• Hepatic DNAJB9 Drives Anabolic Biasing to Reduce Steatosis and Obesity. (PMID:32049014)
• Clinicopathological characteristics and outcome of patients with fibrillary glomerulonephritis: DNAJB9 is a valuable histologic marker. (PMID:32557205)
• DNAJB9-positive monotypic fibrillary glomerulonephritis is not associated with monoclonal gammopathy in the vast majority of patients. (PMID:32622524)
• DNAJB9 suppresses the metastasis of triple-negative breast cancer by promoting FBXO45-mediated degradation of ZEB1. (PMID:33966034)
• Expression of DNAJB9 and some other genes is more sensitive to SWCNTs in normal human astrocytes than glioblastoma cells. (PMID:37561833)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	dnajb9b	ENSDARG00000016886
danio_rerio	dnajb9a	ENSDARG00000052072
mus_musculus	Dnajb9	ENSMUSG00000014905
rattus_norvegicus	Dnajb9	ENSRNOG00000004006
drosophila_melanogaster	CG32640	FBGN0052640
drosophila_melanogaster	CG32641	FBGN0052641

Paralogs (11): DNAJB11 (ENSG00000090520), DNAJB6 (ENSG00000105993), DNAJB1 (ENSG00000132002), DNAJB2 (ENSG00000135924), DNAJB5 (ENSG00000137094), DNAJB12 (ENSG00000148719), DNAJB4 (ENSG00000162616), DNAJB14 (ENSG00000164031), DNAJB7 (ENSG00000172404), DNAJB8 (ENSG00000179407), DNAJB13 (ENSG00000187726)

Protein

Protein identifiers

DnaJ homolog subfamily B member 9 — Q9UBS3 (reviewed: Q9UBS3)

Alternative names: Endoplasmic reticulum DNA J domain-containing protein 4, Microvascular endothelial differentiation gene 1 protein

All UniProt accessions (2): Q9UBS3, Q6FIF1

UniProt curated annotations — full annotation on UniProt →

Function. Co-chaperone for Hsp70 protein HSPA5/BiP that acts as a key repressor of the ERN1/IRE1-mediated unfolded protein response (UPR). J domain-containing co-chaperones stimulate the ATPase activity of Hsp70 proteins and are required for efficient substrate recognition by Hsp70 proteins. In the unstressed endoplasmic reticulum, interacts with the luminal region of ERN1/IRE1 and selectively recruits HSPA5/BiP: HSPA5/BiP disrupts the dimerization of the active ERN1/IRE1 luminal region, thereby inactivating ERN1/IRE1. Also involved in endoplasmic reticulum-associated degradation (ERAD) of misfolded proteins. Required for survival of B-cell progenitors and normal antibody production.

Subunit / interactions. Interacts with HSPA5/BiP; interaction is direct. Interacts with ERN1/IRE1 (via the luminal region). Interacts with DERL1.

Subcellular location. Endoplasmic reticulum lumen.

Tissue specificity. Widely expressed. Expressed at highest level in the liver, placenta and kidney.

Domain organisation. The J domain stimulates the ATPase activity of HSPA5/BiP, while the divergent targeting domain is required for efficient substrate recognition by HSPA5/BiP. The divergent targeting domain specifically recognizes and binds to aggregation-prone sequences.

RefSeq proteins (1): NP_036460* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001623	DnaJ_domain	Domain
IPR018253	DnaJ_domain_CS	Conserved_site
IPR036869	J_dom_sf	Homologous_superfamily
IPR051948	Hsp70_co-chaperone_J-domain	Family

Pfam: PF00226

UniProt features (13 total): helix 5, signal peptide 1, chain 1, strand 1, domain 1, region of interest 1, modified residue 1, sequence variant 1, turn 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2CTR	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UBS3-F1	65.62	0.03

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): 133

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-381038	XBP1(S) activates chaperone genes

MSigDB gene sets: 326 (showing top): GOBP_NEGATIVE_REGULATION_OF_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, REACTOME_UNFOLDED_PROTEIN_RESPONSE_UPR, GOBP_IRE1_MEDIATED_UNFOLDED_PROTEIN_RESPONSE, GOBP_B_CELL_ACTIVATION, TGCACTT_MIR519C_MIR519B_MIR519A, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, ATACCTC_MIR202, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, USF_C, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_UP, GOBP_CELLULAR_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN

GO Biological Process (6): positive regulation of immunoglobulin production (GO:0002639), response to unfolded protein (GO:0006986), B cell differentiation (GO:0030183), response to endoplasmic reticulum stress (GO:0034976), ERAD pathway (GO:0036503), negative regulation of IRE1-mediated unfolded protein response (GO:1903895)

GO Molecular Function (4): Hsp70 protein binding (GO:0030544), protein-folding chaperone binding (GO:0051087), misfolded protein binding (GO:0051787), protein binding (GO:0005515)

GO Cellular Component (6): nucleolus (GO:0005730), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), endoplasmic reticulum lumen (GO:0005788), endoplasmic reticulum membrane (GO:0005789), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
IRE1alpha activates chaperones	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein binding	2
immunoglobulin production	1
regulation of immunoglobulin production	1
positive regulation of production of molecular mediator of immune response	1
response to topologically incorrect protein	1
lymphocyte differentiation	1
B cell activation	1
cellular response to stress	1
proteasomal protein catabolic process	1
response to endoplasmic reticulum stress	1
response to chemical	1
IRE1-mediated unfolded protein response	1
negative regulation of endoplasmic reticulum unfolded protein response	1
regulation of IRE1-mediated unfolded protein response	1
heat shock protein binding	1
protein-folding chaperone binding	1
binding	1
nuclear lumen	1
intracellular membraneless organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
endoplasmic reticulum	1
intracellular organelle lumen	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
extracellular vesicle	1

Protein interactions and networks

STRING

2613 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DNAJB9	HSPA5	P11021	919
DNAJB9	HYOU1	Q9Y4L1	892
DNAJB9	SIL1	Q9H173	869
DNAJB9	EDEM1	Q92611	800
DNAJB9	XBP1	P17861	783
DNAJB9	HSP90B1	P14625	748
DNAJB9	ATF6	P18850	716
DNAJB9	ERN1	O75460	698
DNAJB9	HERPUD1	Q15011	697
DNAJB9	EDEM3	Q9BZQ6	617
DNAJB9	PDIA4	P13667	586
DNAJB9	ATF4	P18848	577
DNAJB9	THAP5	Q7Z6K1	569
DNAJB9	PPP1R15A	O75807	553
DNAJB9	PDIA6	Q15084	553

IntAct

113 interactions, top by confidence:

A	B	Type	Score
TNFSF14	TMEM11	psi-mi:“MI:0914”(association)	0.670
FAM136A	RBFOX3	psi-mi:“MI:0914”(association)	0.640
FGF3	GTPBP10	psi-mi:“MI:0914”(association)	0.530
ST8SIA3	KLRG2	psi-mi:“MI:0914”(association)	0.530
MANSC1	KLRG2	psi-mi:“MI:0914”(association)	0.530
PLXDC2	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
LRRC4C	DVL2	psi-mi:“MI:0914”(association)	0.530
ZACN	GPAA1	psi-mi:“MI:0914”(association)	0.530
BRINP3	BUB1	psi-mi:“MI:0914”(association)	0.530
TRHDE	MAN1A2	psi-mi:“MI:0914”(association)	0.530
CLEC18A	HSPA5	psi-mi:“MI:0914”(association)	0.530
GABRD	ATF6	psi-mi:“MI:0914”(association)	0.530
CHST6	CANX	psi-mi:“MI:0914”(association)	0.530
PLAUR	XRCC3	psi-mi:“MI:0914”(association)	0.530
TMED6	SMPD2	psi-mi:“MI:0914”(association)	0.530
DNAJC3	DEDD	psi-mi:“MI:0914”(association)	0.530
PKD2L2	PKD2	psi-mi:“MI:0914”(association)	0.530
ECEL1	CANX	psi-mi:“MI:0914”(association)	0.530
ECEL1	CLGN	psi-mi:“MI:0914”(association)	0.530
EGFL8	MPO	psi-mi:“MI:0914”(association)	0.530

BioGRID (251): DNAJB9 (Affinity Capture-MS), DNAJB9 (Affinity Capture-MS), DNAJB9 (Affinity Capture-MS), DNAJB9 (Affinity Capture-MS), DNAJB9 (Affinity Capture-MS), DNAJB9 (Affinity Capture-MS), DNAJB9 (Affinity Capture-MS), DNAJB9 (Affinity Capture-MS), DNAJB9 (Affinity Capture-MS), DNAJB9 (Affinity Capture-MS), DNAJB9 (Affinity Capture-MS), DNAJB9 (Affinity Capture-MS), DNAJB9 (Affinity Capture-MS), DNAJB9 (Synthetic Growth Defect), DNAJB9 (Affinity Capture-MS)

ESM2 similar proteins: G3H0N9, O13633, O35723, O54946, O75190, P25294, P25686, P35191, P39102, P48353, P53940, P78004, P87239, P97554, Q09912, Q0IIE8, Q0III6, Q0WTI8, Q10MW6, Q149L6, Q17438, Q28I38, Q4R7Y5, Q54ED3, Q58DR2, Q5F3Z5, Q5FWN8, Q5R6H3, Q5R8H0, Q5R9A4, Q5UP23, Q5XGU5, Q6AYU3, Q6P642, Q7ZXQ8, Q862Z4, Q8GWW8, Q8NHS0, Q8SRK0, Q8TA83

Diamond homologs: A4W6D6, A5W9N6, A6ZQH0, A7GT07, A7MIK3, A7TGR0, A7ZKA5, A8AI78, A8G9K9, A8GR21, A9KE65, A9MH53, A9N6S2, A9NDK6, A9VHU0, B0BWH0, B0JW23, B0KK26, B1J5W7, B1WVR2, B4T2U5, B4TEN5, B4TSM3, B5BBH2, B5F1Z5, B5FR40, B5R049, B5R6G3, B5YU43, B7HPL2, B7JN38, B7KEJ8, B7LFA9, B7MIE6, B7NLC5, B7UNY3, B8CXL0, B9E6X0, B9IY80, C0Q893

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
DNAJB9	“up-regulates activity”	HSPA5	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	41
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

517 predictions. Top by Δscore:

Variant	Effect	Δscore
7:108571713:TTA:T	acceptor_loss	1.0000
7:108571714:TAGG:T	acceptor_loss	1.0000
7:108571715:A:AG	acceptor_gain	1.0000
7:108571715:A:T	acceptor_loss	1.0000
7:108571715:AG:A	acceptor_gain	1.0000
7:108571716:G:GA	acceptor_loss	1.0000
7:108571716:G:GG	acceptor_gain	1.0000
7:108571716:GG:G	acceptor_gain	1.0000
7:108571716:GGAT:G	acceptor_gain	1.0000
7:108571940:GAAG:G	donor_gain	1.0000
7:108571943:GGTAA:G	donor_loss	1.0000
7:108571944:G:GG	donor_gain	1.0000
7:108571944:GTAA:G	donor_loss	1.0000
7:108571945:T:A	donor_loss	1.0000
7:108572895:TCAGC:T	acceptor_loss	1.0000
7:108572896:CAG:C	acceptor_loss	1.0000
7:108572897:A:AG	acceptor_gain	1.0000
7:108572897:AGCA:A	acceptor_loss	1.0000
7:108572898:G:GA	acceptor_gain	1.0000
7:108572898:GC:G	acceptor_gain	1.0000
7:108572898:GCAT:G	acceptor_gain	1.0000
7:108571709:T:A	acceptor_gain	0.9900
7:108571714:TAGGA:T	acceptor_gain	0.9900
7:108571716:GGA:G	acceptor_gain	0.9900
7:108571716:GGATA:G	acceptor_gain	0.9900
7:108571879:G:GT	donor_gain	0.9900
7:108571942:AG:A	donor_gain	0.9900
7:108571943:GG:G	donor_gain	0.9900
7:108572898:GCA:G	acceptor_gain	0.9900
7:108572898:GCATA:G	acceptor_gain	0.9900

AlphaMissense

1507 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:108571862:T:C	F46L	0.999
7:108571864:T:A	F46L	0.999
7:108571864:T:G	F46L	0.999
7:108571886:C:G	H54D	0.999
7:108571875:C:A	A50D	0.998
7:108571888:C:A	H54Q	0.998
7:108571888:C:G	H54Q	0.998
7:108571925:T:C	F67L	0.998
7:108571927:C:A	F67L	0.998
7:108571927:C:G	F67L	0.998
7:108572929:G:C	R83P	0.998
7:108571818:T:C	L31S	0.997
7:108571855:G:C	K43N	0.997
7:108571855:G:T	K43N	0.997
7:108571886:C:A	H54N	0.997
7:108571943:G:C	A73P	0.997
7:108572911:T:A	L77H	0.997
7:108572911:T:C	L77P	0.997
7:108571926:T:C	F67S	0.996
7:108571937:G:C	A71P	0.996
7:108573288:T:A	C203S	0.996
7:108573289:G:C	C203S	0.996
7:108571859:G:C	A45P	0.995
7:108571865:C:G	H47D	0.995
7:108571863:T:C	F46S	0.994
7:108571874:G:C	A50P	0.994
7:108571887:A:G	H54R	0.994
7:108571926:T:G	F67C	0.994
7:108572899:C:A	A73E	0.994
7:108573339:T:A	C220S	0.994

dbSNP variants (sampled 300 via entrez): RS1000847253 (7:108574904 C>T), RS1001283581 (7:108568753 G>T), RS1001363431 (7:108574669 T>C), RS1001374272 (7:108571118 T>C), RS1001508720 (7:108570772 G>A), RS1002247238 (7:108573894 G>C,T), RS1002375791 (7:108572425 C>T), RS1002908644 (7:108570962 T>C), RS1003048033 (7:108570019 G>A), RS1003129427 (7:108571234 C>T), RS1003242472 (7:108572407 C>A), RS1003577858 (7:108570237 C>T), RS1004374359 (7:108570663 G>T), RS1004708497 (7:108572044 T>A,C), RS1004926157 (7:108572273 A>T)

Disease associations

OMIM: gene MIM:602634 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST001286_4	Smoking behavior	2.000000e-06
GCST001286_5	Smoking behavior	3.000000e-07
GCST001286_6	Smoking behavior	9.000000e-07
GCST009391_196	Metabolite levels	4.000000e-07
GCST010989_125	Body size at age 10	3.000000e-09

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004318	smoking behavior
EFO:0010483	gentisic acid measurement
EFO:0009819	comparative body size at age 10, self-reported

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	affects cotreatment, increases expression, affects expression	10
Tunicamycin	decreases reaction, increases expression	7
sodium arsenite	increases abundance, increases expression, decreases expression, affects cotreatment	6
Cadmium Chloride	decreases expression, increases expression	6
Tobacco Smoke Pollution	affects expression, increases expression	5
Aflatoxin B1	affects expression, decreases expression, decreases methylation	4
bisphenol A	affects expression, affects cotreatment, increases expression	3
trichostatin A	affects cotreatment, decreases expression	3
Benzo(a)pyrene	affects expression, decreases expression, increases expression	3
Valproic Acid	affects expression, decreases expression, increases expression	3
Thapsigargin	increases expression	3
Particulate Matter	increases reaction, increases abundance, increases expression, decreases expression, affects expression	3
bisphenol F	increases expression, affects cotreatment	2
cobaltous chloride	increases expression	2
nefazodone	affects cotreatment, increases expression	2
Acetaminophen	increases expression, affects cotreatment	2
Air Pollutants	increases abundance, increases expression, decreases expression	2
Amiodarone	increases expression	2
Chenodeoxycholic Acid	affects cotreatment, increases expression, decreases expression	2
Cisplatin	affects expression, decreases expression	2
Copper	affects binding, increases expression	2
Deoxycholic Acid	affects cotreatment, increases expression, decreases expression	2
Estradiol	affects cotreatment, increases expression	2
Formaldehyde	increases expression	2
Glycochenodeoxycholic Acid	decreases expression, affects cotreatment, increases expression	2
Glycocholic Acid	affects cotreatment, increases expression, decreases expression	2
Glycodeoxycholic Acid	increases expression, decreases expression, affects cotreatment	2
Progesterone	increases expression	2
Rotenone	increases expression, affects expression	2
Tretinoin	affects cotreatment, decreases expression, increases expression	2

Clinical trials (associated diseases)

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