DNAJA2

Summary

DNAJA2 (DnaJ heat shock protein family (Hsp40) member A2, HGNC:14884) is a protein-coding gene on chromosome 16q11.2, encoding DnaJ homolog subfamily A member 2 (O60884). Co-chaperone of Hsc70.

The protein encoded by this gene belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain. The product of this gene works as a cochaperone of Hsp70s in protein folding and mitochondrial protein import in vitro.

Source: NCBI Gene 10294 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 45 total
• Druggable target: yes
• MANE Select transcript: NM_005880

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14884
Approved symbol	DNAJA2
Name	DnaJ heat shock protein family (Hsp40) member A2
Location	16q11.2
Locus type	gene with protein product
Status	Approved
Aliases	HIRIP4, DNAJ, CPR3, DNJ3
Ensembl gene	ENSG00000069345
Ensembl biotype	protein_coding
OMIM	611322
Entrez	10294

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000317089, ENST00000563158, ENST00000569553, ENST00000617000, ENST00000898901, ENST00000917412, ENST00000968499, ENST00000968500

RefSeq mRNA: 1 — MANE Select: NM_005880 NM_005880

CCDS: CCDS10726

Canonical transcript exons

ENST00000317089 — 9 exons

Exon	Start	End
ENSE00000682853	46971349	46971572
ENSE00000682855	46971896	46971955
ENSE00001308081	46955362	46957220
ENSE00002611132	46973495	46973674
ENSE00003473638	46968084	46968164
ENSE00003533248	46967513	46967646
ENSE00003614046	46959275	46959419
ENSE00003670389	46959003	46959130
ENSE00003690454	46964611	46964807

Expression profiles

Bgee: expression breadth ubiquitous, 289 present calls, max score 96.68.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 86.7471 / max 819.9124, expressed in 1825 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
157232	85.1295	1825
157231	1.6176	998

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	96.68	gold quality
gastrocnemius	UBERON:0001388	95.65	gold quality
muscle of leg	UBERON:0001383	95.58	gold quality
endothelial cell	CL:0000115	95.56	gold quality
sperm	CL:0000019	95.52	gold quality
hindlimb stylopod muscle	UBERON:0004252	95.51	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	95.43	gold quality
adrenal tissue	UBERON:0018303	95.22	gold quality
germinal epithelium of ovary	UBERON:0001304	95.15	gold quality
mucosa of paranasal sinus	UBERON:0005030	95.13	gold quality
cortical plate	UBERON:0005343	95.03	gold quality
right atrium auricular region	UBERON:0006631	94.99	gold quality
prefrontal cortex	UBERON:0000451	94.84	gold quality
cardiac atrium	UBERON:0002081	94.82	gold quality
pigmented layer of retina	UBERON:0001782	94.61	gold quality
monocyte	CL:0000576	94.59	gold quality
heart left ventricle	UBERON:0002084	94.56	gold quality
cardiac ventricle	UBERON:0002082	94.51	gold quality
muscle organ	UBERON:0001630	94.47	gold quality
islet of Langerhans	UBERON:0000006	94.38	gold quality
heart	UBERON:0000948	94.38	gold quality
right adrenal gland	UBERON:0001233	94.38	gold quality
right adrenal gland cortex	UBERON:0035827	94.33	gold quality
Brodmann (1909) area 23	UBERON:0013554	94.31	gold quality
mononuclear cell	CL:0000842	94.29	gold quality
biceps brachii	UBERON:0001507	94.27	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	94.23	gold quality
leukocyte	CL:0000738	94.20	gold quality
ganglionic eminence	UBERON:0004023	94.18	gold quality
left adrenal gland	UBERON:0001234	94.13	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-HCAD-13	no	3.12
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

186 targeting DNAJA2, 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-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-4789-5P	99.98	70.76	2721
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-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-4715-3P	99.98	66.03	670
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775

Literature-anchored findings (GeneRIF, showing 12)

• Rdj2 modulates G protein signaling and further suggest that chaperoning G proteins is an emerging theme of the J protein network. (PMID:18595009)
• Bag1 NEF increased refolding by Hsc70 and DJA2, as did the newly characterized NEF Hsp110 (PMID:18684711)
• Hsp40 type 1 chaperones DJA1 (DNAJA1/Hdj2) and DJA2 (DNAJA2) as key modulators of hERG degradation (PMID:19940115)
• The DNAJA2 substrate release mechanism is essential for chaperone-mediated folding. (PMID:23091061)
• we combined the Hsp70-NEF pairs with cochaperones of the J protein family (DnaJA1, DnaJA2, DnaJB1, and DnaJB4) to generate 16 permutations. (PMID:24318877)
• Study shows that Hsp40 and Hsp70 recognize a region of the androgen receptor (AR) N-terminal domain (NTD), including a FQNLF motif, that interacts with the AR ligand-binding domain (LBD) upon activation. This suggests that competition between molecular chaperones and the LBD for the FQNLF motif regulates AR activation. (PMID:31395886)
• overexpressing DNAJA2 but not DNAJA1 enhanced CFTR degradation at the endoplasmic reticulum by Hsc70/Hsp70 and the E3 ubiquitin ligase CHIP. Excess Hsp70 also promoted CFTR degradation, but this occurred through the lysosomal pathway and required CHIP but not complex formation with HOP and Hsp90. (PMID:31408507)
• Hsp40 proteins phase separate to chaperone the assembly and maintenance of membraneless organelles. (PMID:33229560)
• DNAJA2 deficiency activates cGAS-STING pathway via the induction of aberrant mitosis and chromosome instability. (PMID:37640708)
• The self-association equilibrium of DNAJA2 regulates its interaction with unfolded substrate proteins and with Hsc70. (PMID:37670029)
• Pseudophosphorylation of single residues of the J-domain of DNAJA2 regulates the holding/folding balance of the Hsc70 system. (PMID:39012012)
• DNAJA2 and Hero11 mediate similar conformational extension and aggregation suppression of TDP-43. (PMID:39117455)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	dnaja2b	ENSDARG00000010745
danio_rerio	dnaja2a	ENSDARG00000104066
mus_musculus	Dnaja2	ENSMUSG00000031701
rattus_norvegicus	Dnaja2	ENSRNOG00000016251
caenorhabditis_elegans		WBGENE00001037

Paralogs (3): DNAJA1 (ENSG00000086061), DNAJA3 (ENSG00000103423), DNAJA4 (ENSG00000140403)

Protein

Protein identifiers

DnaJ homolog subfamily A member 2 — O60884 (reviewed: O60884)

Alternative names: Cell cycle progression restoration gene 3 protein, Dnj3, HIRA-interacting protein 4, Renal carcinoma antigen NY-REN-14

All UniProt accessions (3): O60884, A0A087WT48, I3L320

UniProt curated annotations — full annotation on UniProt →

Function. Co-chaperone of Hsc70. Stimulates ATP hydrolysis and the folding of unfolded proteins mediated by HSPA1A/B (in vitro).

Subcellular location. Membrane.

RefSeq proteins (1): NP_005871* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001305	HSP_DnaJ_Cys-rich_dom	Domain
IPR001623	DnaJ_domain	Domain
IPR002939	DnaJ_C	Domain
IPR008971	HSP40/DnaJ_pept-bd	Homologous_superfamily
IPR012724	DnaJ	Family
IPR018253	DnaJ_domain_CS	Conserved_site
IPR036410	HSP_DnaJ_Cys-rich_dom_sf	Homologous_superfamily
IPR036869	J_dom_sf	Homologous_superfamily
IPR044713	DNJA1/2-like	Family

Pfam: PF00226, PF00684, PF01556

UniProt features (33 total): binding site 8, modified residue 8, sequence conflict 6, repeat 4, chain 1, propeptide 1, domain 1, lipid moiety-binding region 1, cross-link 1, zinc finger region 1, region of interest 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
7ZHS	ELECTRON MICROSCOPY	6.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O60884-F1	84.10	0.53

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (8): 146; 159; 162; 186; 189; 202; 205; 143

Post-translational modifications (10): 39, 78, 123, 152, 391, 394, 395, 409, 409, 134

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-3371497	HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand
R-HSA-9918487	Dengue Virus Genome Translation and Replication

MSigDB gene sets: 265 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, SHEPARD_BMYB_MORPHOLINO_UP, TGCGCANK_UNKNOWN, GAANYNYGACNY_UNKNOWN, TGACCTY_ERR1_Q2, AAAYRNCTG_UNKNOWN, BONCI_TARGETS_OF_MIR15A_AND_MIR16_1, COUP_01, GOBP_PROTEIN_MATURATION, SOX9_B1, FOSTER_TOLERANT_MACROPHAGE_UP, HNF4_DR1_Q3, HNF4_01, GOBP_PROTEIN_FOLDING, PPAR_DR1_Q2

GO Biological Process (4): positive regulation of cell population proliferation (GO:0008284), response to heat (GO:0009408), protein refolding (GO:0042026), protein folding (GO:0006457)

GO Molecular Function (9): ATPase activator activity (GO:0001671), ATP binding (GO:0005524), zinc ion binding (GO:0008270), Hsp70 protein binding (GO:0030544), obsolete unfolded protein binding (GO:0051082), protein-folding chaperone binding (GO:0051087), protein binding (GO:0005515), heat shock protein binding (GO:0031072), metal ion binding (GO:0046872)

GO Cellular Component (4): cytoplasm (GO:0005737), cytosol (GO:0005829), membrane (GO:0016020), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Cellular responses to stress	1
Dengue Virus Infection	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
protein binding	2
cell population proliferation	1
regulation of cell population proliferation	1
positive regulation of cellular process	1
response to stress	1
response to temperature stimulus	1
protein folding	1
cellular process	1
protein maturation	1
ATP-dependent activity	1
molecular function activator activity	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
transition metal ion binding	1
heat shock protein binding	1
protein-folding chaperone binding	1
binding	1
cation binding	1
intracellular anatomical structure	1
cytoplasm	1
extracellular vesicle	1

Protein interactions and networks

STRING

3770 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DNAJA2	HSPA8	P11142	814
DNAJA2	PRTN3	P15637	735
DNAJA2	HSPA4	P34932	713
DNAJA2	IL32	P24001	645
DNAJA2	DNAJC6	O75061	620
DNAJA2	MAPT	P10636	523
DNAJA2	SEC61A1	P38378	521
DNAJA2	HSPA9	P30036	521
DNAJA2	CANX	P27824	519
DNAJA2	MYB	P10242	514
DNAJA2	DNAJC2	Q99543	514
DNAJA2	TBRG4	Q969Z0	507
DNAJA2	HSP90AB1	P08238	506
DNAJA2	DNAJB4	Q9UDY4	503
DNAJA2	HSP90AA1	P07900	495

IntAct

267 interactions, top by confidence:

A	B	Type	Score
IFIT2	IFIT3	psi-mi:“MI:0914”(association)	0.780
PIGS	GPAA1	psi-mi:“MI:0914”(association)	0.760
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
H4C16	HAT1	psi-mi:“MI:0914”(association)	0.700
RAF1	CALU	psi-mi:“MI:0914”(association)	0.640
IGF1R	PIK3R2	psi-mi:“MI:2364”(proximity)	0.590
DNAJA2	DYNLT1	psi-mi:“MI:0915”(physical association)	0.560
DCAF10	DNAJA2	psi-mi:“MI:0915”(physical association)	0.560
HSCB	DNAJA2	psi-mi:“MI:0915”(physical association)	0.550
ILK	HAX1	psi-mi:“MI:0914”(association)	0.530
IRAK1	SEC16A	psi-mi:“MI:0914”(association)	0.530
TUBB3	POTEF	psi-mi:“MI:0914”(association)	0.530
PRKCZ	IPO5	psi-mi:“MI:0914”(association)	0.530
DTL	DNAJA2	psi-mi:“MI:0914”(association)	0.530
ELP2	DNAJA2	psi-mi:“MI:0914”(association)	0.530
TAF1C	DNAJA2	psi-mi:“MI:0914”(association)	0.530
DDX11	DNAJA2	psi-mi:“MI:0914”(association)	0.530
IFT122	DNAJA2	psi-mi:“MI:0914”(association)	0.530
TTLL5	DNAJA2	psi-mi:“MI:0914”(association)	0.530
DNAJA1	DNAJA2	psi-mi:“MI:0914”(association)	0.530
NOL9	IPO5	psi-mi:“MI:0914”(association)	0.530

BioGRID (706): DNAJA2 (Affinity Capture-MS), DNAJA2 (Affinity Capture-Western), DNAJA2 (Affinity Capture-Western), DNAJA2 (Affinity Capture-MS), DNAJA2 (Affinity Capture-MS), DNAJA2 (Affinity Capture-MS), DNAJA2 (Affinity Capture-MS), DNAJA2 (Affinity Capture-MS), DNAJA2 (Affinity Capture-MS), DNAJA2 (Affinity Capture-MS), DNAJA2 (Affinity Capture-MS), DNAJA2 (Affinity Capture-MS), DNAJA2 (Affinity Capture-MS), DNAJA2 (Affinity Capture-MS), ABCF2 (Co-fractionation)

ESM2 similar proteins: A6QBG7, B9FHF3, O35824, O60884, O74752, O75953, O89114, O94625, O94657, P25294, P25303, P25491, P25685, P42824, P42825, P43644, P59910, P78004, P81999, Q03363, Q04960, Q09912, Q0JB88, Q24133, Q2HJ94, Q2KIT4, Q3AQP5, Q3MI00, Q3ZBA6, Q54ED3, Q5BIP8, Q5R8J8, Q5RAJ6, Q626I7, Q6MNG0, Q6TUG0, Q8A8C3, Q8GWW8, Q8MPX3, Q8TA83

Diamond homologs: A0LJ41, A1KR91, A3DF24, A4XKA5, A5EYE5, A5ITA7, A6LRN5, A6Q486, A6QHC2, A6U251, A6UEY1, A7X2Y0, A8Z4B8, A9IGC5, A9KG87, A9LZV9, A9N8H1, B0SHT0, B0SRF0, B2IBR5, B2TLZ8, B2V2I6, B3CP03, B6IZJ1, B6J7U6, B8I304, B9FHF3, B9JZ89, B9MJZ0, C0R562, C3MC05, O27352, O35824, O60884, O66921, O74752, O75953, O89114, P25491, P31689

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 226 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
Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane	5	17.4×	1e-03
Transport of connexons to the plasma membrane	5	17.4×	1e-03
Gap junction trafficking and regulation	5	15.2×	1e-03
Gap junction trafficking	5	15.2×	1e-03
Post-chaperonin tubulin folding pathway	5	15.2×	1e-03
Activation of AMPK downstream of NMDARs	6	14.6×	7e-04
Formation of tubulin folding intermediates by CCT/TriC	5	13.6×	1e-03
RHO GTPases activate IQGAPs	6	13.3×	8e-04

GO biological processes:

GO term	Partners	Fold	FDR
Schwann cell development	5	27.7×	2e-04
insulin-like growth factor receptor signaling pathway	7	18.3×	5e-05
insulin receptor signaling pathway	8	9.3×	5e-04
MAPK cascade	11	8.9×	4e-05
protein autophosphorylation	10	7.7×	2e-04
obsolete positive regulation of NF-kappaB transcription factor activity	7	7.6×	5e-03
microtubule cytoskeleton organization	9	5.7×	4e-03
positive regulation of MAPK cascade	12	5.1×	9e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	25
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1310 predictions. Top by Δscore:

Variant	Effect	Δscore
16:46957220:CCTT:C	acceptor_gain	1.0000
16:46957226:T:C	acceptor_gain	1.0000
16:46957226:T:TC	acceptor_gain	1.0000
16:46958996:CACTT:C	donor_loss	1.0000
16:46958997:ACTTA:A	donor_loss	1.0000
16:46958998:CTTA:C	donor_loss	1.0000
16:46958999:TTACA:T	donor_loss	1.0000
16:46959000:TACAG:T	donor_loss	1.0000
16:46959001:A:AC	donor_gain	1.0000
16:46959001:A:AT	donor_loss	1.0000
16:46959002:C:CC	donor_gain	1.0000
16:46959002:CA:C	donor_gain	1.0000
16:46959002:CAG:C	donor_gain	1.0000
16:46959002:CAGA:C	donor_gain	1.0000
16:46959002:CAGAA:C	donor_gain	1.0000
16:46959127:CACC:C	acceptor_gain	1.0000
16:46959129:CC:C	acceptor_gain	1.0000
16:46959130:CCTAT:C	acceptor_gain	1.0000
16:46959271:TTA:T	donor_loss	1.0000
16:46959272:TAC:T	donor_loss	1.0000
16:46959274:CC:C	donor_loss	1.0000
16:46959416:ATAC:A	acceptor_gain	1.0000
16:46959417:TAC:T	acceptor_gain	1.0000
16:46959418:AC:A	acceptor_gain	1.0000
16:46959419:CC:C	acceptor_gain	1.0000
16:46959419:CCTA:C	acceptor_loss	1.0000
16:46959420:C:CC	acceptor_gain	1.0000
16:46959420:C:CG	acceptor_loss	1.0000
16:46959421:T:C	acceptor_loss	1.0000
16:46964606:ATCAC:A	donor_loss	1.0000

AlphaMissense

2734 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:46959064:A:G	L329P	1.000
16:46959103:C:T	G316E	1.000
16:46959104:C:A	G316W	1.000
16:46959104:C:G	G316R	1.000
16:46959104:C:T	G316R	1.000
16:46959362:C:G	A278P	1.000
16:46964715:C:G	G224R	1.000
16:46964771:C:G	C205S	1.000
16:46964772:A:T	C205S	1.000
16:46967523:A:C	C189W	1.000
16:46967524:C:G	C189S	1.000
16:46967524:C:T	C189Y	1.000
16:46967525:A:G	C189R	1.000
16:46967525:A:T	C189S	1.000
16:46967532:G:C	C186W	1.000
16:46967533:C:G	C186S	1.000
16:46967533:C:T	C186Y	1.000
16:46967534:A:G	C186R	1.000
16:46967534:A:T	C186S	1.000
16:46967615:A:G	C159R	1.000
16:46968100:A:G	C143R	1.000
16:46968138:C:T	G130D	1.000
16:46971502:C:T	G70E	1.000
16:46971541:A:G	L57P	1.000
16:46971541:A:T	L57Q	1.000
16:46971567:T:A	K48N	1.000
16:46971567:T:G	K48N	1.000
16:46971570:A:C	F47L	1.000
16:46971570:A:T	F47L	1.000
16:46971571:A:C	F47C	1.000

dbSNP variants (sampled 300 via entrez): RS1000603807 (16:46974774 T>A), RS1000673929 (16:46973767 C>A,G), RS1000860093 (16:46962623 C>A), RS1000869647 (16:46955728 G>T), RS1000870635 (16:46956182 CAA>C), RS1000911325 (16:46974508 T>C), RS1000949001 (16:46973882 G>C), RS1000973993 (16:46960914 A>G), RS1001277034 (16:46972318 G>A,C), RS1001312040 (16:46962362 T>A,C), RS1001526133 (16:46959529 C>A), RS1001585812 (16:46971981 A>G), RS1001669577 (16:46965815 A>G), RS1001805297 (16:46966085 G>A,C), RS1001913855 (16:46960681 C>A,T)

Disease associations

OMIM: gene MIM:611322 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST007401_23	Factor VII activity	7.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004619	factor VII measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4295671 (SINGLE PROTEIN)

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
ochratoxin A	decreases acetylation, decreases expression, increases expression	2
Tobacco Smoke Pollution	increases expression	2
Particulate Matter	decreases expression, increases abundance, affects expression, increases reaction	2
triphenyl phosphate	affects expression	1
uranyl acetate	affects expression	1
pirinixic acid	increases activity, increases expression, affects binding	1
bisphenol A	decreases expression	1
sodium arsenite	affects cotreatment, increases abundance, increases expression	1
cobaltous chloride	increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine	affects expression, increases reaction	1
nutlin 3	affects cotreatment, increases secretion	1
bisphenol AF	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Air Pollutants	increases abundance, decreases expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Atrazine	increases expression	1
Vehicle Emissions	affects expression, increases reaction	1
Benzo(a)pyrene	increases expression	1
Carbamazepine	affects expression	1
Coumestrol	affects cotreatment, decreases expression	1
Dactinomycin	affects cotreatment, increases secretion	1
Diazinon	increases methylation	1
Diclofenac	affects expression	1
Hydrogen Peroxide	decreases expression	1
Indomethacin	decreases expression	1
Ivermectin	decreases expression	1
Manganese	affects cotreatment, increases abundance, increases expression	1
Phenobarbital	affects expression	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4118575	Binding	Binding affinity to DNAJA2 in human NCI-H23 cells at 1 uM by mass spectrometry based pull down assay	Studies of TAK1-centered polypharmacology with novel covalent TAK1 inhibitors. — Bioorg Med Chem

Clinical trials (associated diseases)

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