DNAJC9

Summary

DNAJC9 (DnaJ heat shock protein family (Hsp40) member C9, HGNC:19123) is a protein-coding gene on chromosome 10q22.2, encoding DnaJ homolog subfamily C member 9 (Q8WXX5). Acts as a dual histone chaperone and heat shock co-chaperone. It is a selective cancer dependency (DepMap: 90.0% of cell lines).

Enables heat shock protein binding activity; histone binding activity; and protein-folding chaperone binding activity. Involved in nucleosome assembly and positive regulation of ATP-dependent activity. Located in several cellular components, including cytosol; extracellular space; and nucleoplasm. Part of protein folding chaperone complex.

Source: NCBI Gene 23234 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 83 total — 1 pathogenic, 2 likely-pathogenic
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 90.0% of screened cell lines
• MANE Select transcript: NM_015190

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19123
Approved symbol	DNAJC9
Name	DnaJ heat shock protein family (Hsp40) member C9
Location	10q22.2
Locus type	gene with protein product
Status	Approved
Aliases	JDD1, SB73
Ensembl gene	ENSG00000213551
Ensembl biotype	protein_coding
OMIM	611206
Entrez	23234

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 5 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000372950, ENST00000453189, ENST00000469143, ENST00000876157, ENST00000876158, ENST00000912787, ENST00000912788

RefSeq mRNA: 1 — MANE Select: NM_015190 NM_015190

CCDS: CCDS7322

Canonical transcript exons

ENST00000372950 — 5 exons

Exon	Start	End
ENSE00001102144	73246688	73246828
ENSE00001102154	73245922	73246176
ENSE00001459128	73241954	73243519
ENSE00001681367	73247010	73247255
ENSE00003665350	73243843	73243929

Expression profiles

Bgee: expression breadth ubiquitous, 267 present calls, max score 94.92.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.5148 / max 536.5879, expressed in 1802 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
110044	26.6787	1799
110043	1.8361	905

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	94.92	gold quality
ganglionic eminence	UBERON:0004023	94.76	gold quality
ventricular zone	UBERON:0003053	94.28	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	94.01	gold quality
cortical plate	UBERON:0005343	91.35	gold quality
cerebellar hemisphere	UBERON:0002245	90.28	gold quality
cerebellar cortex	UBERON:0002129	90.12	gold quality
oocyte	CL:0000023	90.10	gold quality
lower esophagus mucosa	UBERON:0035834	90.04	gold quality
mucosa of transverse colon	UBERON:0004991	89.98	gold quality
right hemisphere of cerebellum	UBERON:0014890	89.92	gold quality
embryo	UBERON:0000922	89.45	gold quality
calcaneal tendon	UBERON:0003701	89.39	gold quality
trabecular bone tissue	UBERON:0002483	88.68	gold quality
cerebellum	UBERON:0002037	88.40	gold quality
esophagus mucosa	UBERON:0002469	88.21	gold quality
bone marrow	UBERON:0002371	88.04	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.30	gold quality
rectum	UBERON:0001052	87.21	gold quality
left ovary	UBERON:0002119	86.71	gold quality
granulocyte	CL:0000094	86.51	gold quality
right frontal lobe	UBERON:0002810	86.47	gold quality
amniotic fluid	UBERON:0000173	86.35	gold quality
skin of leg	UBERON:0001511	86.25	gold quality
right ovary	UBERON:0002118	86.20	gold quality
anterior cingulate cortex	UBERON:0009835	86.14	gold quality
cingulate cortex	UBERON:0003027	85.99	gold quality
esophagus	UBERON:0001043	85.97	gold quality
skin of abdomen	UBERON:0001416	85.86	gold quality
spleen	UBERON:0002106	85.53	gold quality

Single-cell (SCXA)

Detected in 10 experiment(s), a significant marker in 9.

Experiment	Marker?	Max mean expression
E-HCAD-4	yes	146.20
E-HCAD-6	yes	42.97
E-HCAD-10	yes	36.15
E-MTAB-9067	yes	23.37
E-CURD-122	yes	23.28
E-GEOD-125970	yes	21.68
E-HCAD-13	yes	20.47
E-ANND-3	yes	9.05
E-MTAB-9388	yes	7.71
E-GEOD-99795	no	181.88

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

61 targeting DNAJC9, 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-3662	99.99	73.82	5684
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-552-5P	99.93	68.56	1583
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-219A-5P	99.91	73.36	735
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-4782-3P	99.88	73.31	735
HSA-MIR-6766-3P	99.88	73.38	732
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-2052	99.79	69.37	2031
HSA-MIR-370-5P	99.78	66.81	706
HSA-MIR-132-3P	99.73	70.56	1424
HSA-MIR-212-3P	99.73	70.65	1424
HSA-MIR-4446-5P	99.72	69.19	2544
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-3618	99.69	68.57	1012
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-7156-5P	99.64	68.81	1369
HSA-MIR-6513-3P	99.59	69.77	1102
HSA-MIR-486-5P	99.51	70.39	707
HSA-MIR-5007-3P	99.51	68.14	1242
HSA-MIR-513C-5P	99.50	68.42	1730
HSA-MIR-514B-5P	99.50	68.19	1766
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-4273	99.45	67.93	1206
HSA-MIR-513A-3P	99.39	70.63	3620
HSA-MIR-513C-3P	99.39	70.63	3620

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 90.0% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 3)

• Up-regulation of DNAJC9 is associated with cervical squamous cell carcinoma. (PMID:20099975)
• ANXA7, PPP3CB, DNAJC9, and ZMYND17 genes are potential candidate genes for schizophrenia, especially in patients with deficits in sustained attention and executive function. (PMID:21531385)
• DNAJC9 integrates heat shock molecular chaperones into the histone chaperone network. (PMID:33857403)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	dnajc9	ENSDARG00000031293
mus_musculus	Dnajc9	ENSMUSG00000021811
rattus_norvegicus	Dnajc9	ENSRNOG00000006619
drosophila_melanogaster	CG6693	FBGN0037878
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), DNAJC1 (ENSG00000136770), DNAJC13 (ENSG00000138246), DNAJC5B (ENSG00000147570), DNAJC5G (ENSG00000163793), DNAJC7 (ENSG00000168259), DNAJC21 (ENSG00000168724), DNAJC18 (ENSG00000170464), DNAJC24 (ENSG00000170946), DNAJC30 (ENSG00000176410)

Protein

Protein identifiers

DnaJ homolog subfamily C member 9 — Q8WXX5 (reviewed: Q8WXX5)

Alternative names: DnaJ protein SB73

All UniProt accessions (1): Q8WXX5

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a dual histone chaperone and heat shock co-chaperone. As a histone chaperone, forms a co-chaperone complex with MCM2 and histone H3-H4 heterodimers; and may thereby assist MCM2 in histone H3-H4 heterodimer recognition and facilitate the assembly of histones into nucleosomes. May also act as a histone co-chaperone together with TONSL. May recruit histone chaperones ASF1A, NASP and SPT2 to histone H3-H4 heterodimers. Also plays a role as co-chaperone of the HSP70 family of molecular chaperone proteins, such as HSPA1A, HSPA1B and HSPA8. As a co-chaperone, may play a role in the recruitment of HSP70-type molecular chaperone machinery to histone H3-H4 substrates, thereby maintaining the histone structural integrity. Exhibits activity to assemble histones onto DNA in vitro.

Subunit / interactions. Forms a co-chaperone complex with MCM2 and histone H3.3-H4 heterodimers. Within the complex, interacts (via C-terminus) with MCM2 (via N-terminus); the interaction is histone-dependent. Within the complex, interacts (via C-terminus) with histone H3.3-H4 heterodimers; the interaction is direct. Interacts with histones H4, H3.3, H3.2 and H3.1, but not with CENPA or the testis-specific histone H3.1t. Interacts (via J domain) with HSPA1A, HSPA1B and HSPA8. May interact with TONSL; the interaction seems to be histone-dependent. May interact with HSPA8 and BAG2; the interactions seem to be histone-dependent.

Subcellular location. Nucleus. Cytoplasm. Cell membrane.

Tissue specificity. Expressed in heart, placenta, liver, skeletal muscle, kidney, pancreas, thymus, ovary, colon and peripheral blood.

Domain organisation. The functional J domain is required for the release from histone-dependent chromatin-binding.

Induction. By heat shock, bacterial lipopolysaccharides (LPS), phorbol 12-myristate 13-acetate (PMA), and the cytokine TNF (at protein level).

RefSeq proteins (1): NP_056005* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001623	DnaJ_domain	Domain
IPR018253	DnaJ_domain_CS	Conserved_site
IPR036869	J_dom_sf	Homologous_superfamily
IPR052594	J_domain-containing_protein	Family
IPR056453	HTH_DNAJC9	Domain

Pfam: PF00226, PF23302

UniProt features (18 total): mutagenesis site 8, helix 3, region of interest 2, modified residue 2, chain 1, domain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
7CIZ	X-RAY DIFFRACTION	1.8
7CJ0	X-RAY DIFFRACTION	2.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WXX5-F1	85.67	0.51

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 (2): 109, 215

Mutagenesis-validated functional residues (8):

Position	Phenotype
224–242	abolishes the interaction with mcm2, tonsl and histones h3.3 and h4. disrupts the formation of the co-chaperone complex
224–227	partial loss of histone dimer h3-h4 interaction. reduces the formation of the co-chaperone complex with mcm2 and histone
234–235	reduces the formation of the co-chaperone complex with mcm2 and histones h3.3 and h4.
238–242	partial loss of histone dimer h3-h4 interaction. reduces the co-chaperone complex formation with mcm2; histone h3.3 and
243	does not affect interaction with histones.
43–45	increased binding to histones h3 and h4. less integration of histones h3 and h4 in chromatin. increased recruitment of h
195–200	reduces the co-chaperone complex formation with mcm2; histone h3.3 and h4.
216–220	disrupts the formation of the co-chaperone complex with mcm2 and histones h3.3 and h4.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 274 (showing top): E2F_Q4, MORF_DNMT1, MORF_ESPL1, GNF2_CENPF, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, E2F4DP1_01, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, MORF_RRM1, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, MORF_UBE2N, GNF2_H2AFX, MORF_HDAC2, PUJANA_CHEK2_PCC_NETWORK, CREB_Q4, E2F1DP1_01

GO Biological Process (2): nucleosome assembly (GO:0006334), positive regulation of ATP-dependent activity (GO:0032781)

GO Molecular Function (4): heat shock protein binding (GO:0031072), histone binding (GO:0042393), protein-folding chaperone binding (GO:0051087), protein binding (GO:0005515)

GO Cellular Component (8): obsolete extracellular space (GO:0005615), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), protein folding chaperone complex (GO:0101031), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
protein binding	3
chromatin organization	1
nucleosome organization	1
protein-DNA complex assembly	1
regulation of ATP-dependent activity	1
positive regulation of molecular function	1
ATP-dependent activity	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1
membrane	1
cell periphery	1
intracellular protein-containing complex	1

Protein interactions and networks

STRING

2829 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DNAJC9	FAM149B1	Q96BN6	965
DNAJC9	DNAJC25	Q9H1X3	639
DNAJC9	DNAJC27	Q9NZQ0	610
DNAJC9	DNAJC28	Q9NX36	599
DNAJC9	HSPA4	P34932	561
DNAJC9	DNAJC8	O75937	558
DNAJC9	DNAJC22	Q8N4W6	552
DNAJC9	DNAJC2	Q99543	519
DNAJC9	DNAJC15	Q9Y5T4	501
DNAJC9	RRP1B	Q14684	486
DNAJC9	DNAJC4	Q9NNZ3	482
DNAJC9	DNAJC5G	Q8N7S2	473
DNAJC9	ZKSCAN2	Q63HK3	459
DNAJC9	DNAJC14	Q6Y2X3	459
DNAJC9	SPOCD1	Q6ZMY3	458

IntAct

118 interactions, top by confidence:

A	B	Type	Score
H3C1	DNAJC9	psi-mi:“MI:0915”(physical association)	0.810
H3C1	HAT1	psi-mi:“MI:0914”(association)	0.770
MORN4	DNAJC9	psi-mi:“MI:0915”(physical association)	0.560
H3-5	DNAJC9	psi-mi:“MI:0915”(physical association)	0.560
CHAF1B	H4C16	psi-mi:“MI:0914”(association)	0.530
FOXM1	PES1	psi-mi:“MI:0914”(association)	0.500
H3C1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.410
DNAJC9	E6	psi-mi:“MI:0915”(physical association)	0.370
Srp72		psi-mi:“MI:0914”(association)	0.350
FOXL2	RTCA	psi-mi:“MI:0914”(association)	0.350
FOXO1	RB1	psi-mi:“MI:0914”(association)	0.350
FOXS1	DDX39A	psi-mi:“MI:0914”(association)	0.350
JUN		psi-mi:“MI:0914”(association)	0.350
JUN	TPM3	psi-mi:“MI:0914”(association)	0.350
KIF3A	KIF3B	psi-mi:“MI:0914”(association)	0.350
KSR1	FBLL1	psi-mi:“MI:0914”(association)	0.350
RRP1B	YY2	psi-mi:“MI:0914”(association)	0.350
H3C1	IPO5	psi-mi:“MI:0914”(association)	0.350
VDAC1	SNRPGP15	psi-mi:“MI:0914”(association)	0.350
		psi-mi:“MI:0914”(association)	0.350
NUDCD1	TUBAL3	psi-mi:“MI:0914”(association)	0.350
NUDCD1	APOBEC3B	psi-mi:“MI:0914”(association)	0.350
Prdm16	ESYT2	psi-mi:“MI:0914”(association)	0.350
Mecom	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (344): DNAJC9 (Affinity Capture-RNA), DNAJC9 (Affinity Capture-MS), DNAJC9 (Co-fractionation), DNAJC9 (Co-fractionation), DNAJC9 (Co-fractionation), DNAJC9 (Co-fractionation), DNAJC9 (Co-fractionation), DNAJC9 (Co-fractionation), DNAJC9 (Co-fractionation), DNAJC9 (Co-fractionation), HYOU1 (Co-fractionation), DNAJC9 (Affinity Capture-MS), DNAJC9 (Proximity Label-MS), DNAJC9 (Co-purification), DNAJC9 (Affinity Capture-MS)

ESM2 similar proteins: A2AQ19, A2VD00, A2VDN6, A4II09, O43395, O60870, O75391, O75937, P23025, P23116, P29084, P29540, P32780, Q13123, Q14152, Q1JU68, Q1RMM1, Q2HJ41, Q2KIA6, Q2KJF9, Q3TIV5, Q40554, Q5EAV6, Q5H7N8, Q5NVI3, Q5R5F1, Q5RAD5, Q5RE03, Q5ZJ85, Q642C0, Q66HG8, Q6GMH0, Q6NZB0, Q6PCR7, Q6U6G5, Q7SYJ9, Q7TNE3, Q8BM39, Q8K339, Q8WU90

Diamond homologs: A0K4S9, A0Q1R3, A1KR91, A1U613, A1V0U8, A1V9Q3, A1WAR7, A1WX30, A2S563, A3DF24, A3MA88, A3MN97, A3ND66, A3NYX5, A4JBS2, A5EYE5, A5IIT4, A5WBF8, A6Q486, A6QBG7, A8EXP6, A9IGC5, A9LZV9, B0UWR3, B0VA24, B0VQ00, B1JW20, B1LCI2, B1YTK1, B2I2G6, B3R6G6, B4EDZ1, B7GV08, B7I2B2, B8DQW8, B8FUN3, B9KAB9, C1DD87, C5B7L8, O34136

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 119 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.

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of fibroblast proliferation	5	14.2×	8e-03
cell surface receptor protein tyrosine kinase signaling pathway	8	13.4×	7e-05
protein autophosphorylation	6	8.4×	8e-03
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	11	8.3×	7e-05
nucleosome assembly	6	8.1×	8e-03
negative regulation of apoptotic process	12	4.0×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	2
Uncertain significance	61
Likely benign	11
Benign	1

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
3237481	NM_173348.2(FAM149B1):c.1198C>T (p.Arg400Ter)	Pathogenic
2505233	NM_173348.2(FAM149B1):c.1183C>T (p.Arg395Ter)	Likely pathogenic
3065140	NM_173348.2(FAM149B1):c.1402C>T (p.Arg468Ter)	Likely pathogenic

SpliceAI

2657 predictions. Top by Δscore:

Variant	Effect	Δscore
10:73192553:TAGG:T	acceptor_loss	1.0000
10:73192554:A:AT	acceptor_loss	1.0000
10:73192695:TCAG:T	donor_loss	1.0000
10:73192697:AG:A	donor_loss	1.0000
10:73192698:GGTA:G	donor_loss	1.0000
10:73192699:G:C	donor_loss	1.0000
10:73207936:GAA:G	donor_gain	1.0000
10:73208611:A:AG	acceptor_gain	1.0000
10:73208617:A:G	acceptor_gain	1.0000
10:73208782:GATAT:G	donor_gain	1.0000
10:73208783:ATATG:A	donor_loss	1.0000
10:73208785:ATGTG:A	donor_loss	1.0000
10:73208786:TG:T	donor_loss	1.0000
10:73208787:G:GG	donor_gain	1.0000
10:73208787:GTGA:G	donor_loss	1.0000
10:73235263:A:T	donor_gain	1.0000
10:73243930:C:CC	acceptor_gain	1.0000
10:73243930:CTGAA:C	acceptor_loss	1.0000
10:73245916:TCTTA:T	donor_loss	1.0000
10:73245917:CTTAC:C	donor_loss	1.0000
10:73245918:TTAC:T	donor_loss	1.0000
10:73245919:TA:T	donor_loss	1.0000
10:73245920:A:AC	donor_gain	1.0000
10:73245920:AC:A	donor_gain	1.0000
10:73245920:ACCCT:A	donor_gain	1.0000
10:73245921:C:CC	donor_gain	1.0000
10:73245921:C:CG	donor_loss	1.0000
10:73245921:CC:C	donor_gain	1.0000
10:73245921:CCCT:C	donor_gain	1.0000
10:73245921:CCCTC:C	donor_gain	1.0000

AlphaMissense

1713 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:73247013:G:C	F59L	0.998
10:73247013:G:T	F59L	0.998
10:73247015:A:G	F59L	0.998
10:73247063:G:C	H43D	0.997
10:73247061:G:C	H43Q	0.996
10:73247061:G:T	H43Q	0.996
10:73247063:G:T	H43N	0.995
10:73246694:A:C	F105L	0.994
10:73246694:A:T	F105L	0.994
10:73246696:A:G	F105L	0.994
10:73247014:A:G	F59S	0.991
10:73247071:A:G	L40P	0.990
10:73247062:T:C	H43R	0.988
10:73247084:G:C	H36D	0.987
10:73247087:A:C	Y35D	0.987
10:73245931:C:A	R189S	0.986
10:73245931:C:G	R189S	0.986
10:73246803:A:T	L69H	0.985
10:73243908:C:G	A200P	0.983
10:73247015:A:C	F59V	0.983
10:73247087:A:G	Y35H	0.983
10:73243847:A:G	I220T	0.982
10:73246083:C:G	G139R	0.982
10:73246150:A:C	F116L	0.982
10:73246150:A:T	F116L	0.982
10:73246152:A:G	F116L	0.982
10:73246784:T:A	R75S	0.981
10:73246784:T:G	R75S	0.981
10:73247014:A:C	F59C	0.981
10:73246806:A:T	V68D	0.980

dbSNP variants (sampled 300 via entrez): RS1000063595 (10:73237556 A>G), RS1000066286 (10:73240814 A>C,T), RS1000124413 (10:73232622 A>C,G), RS1000131840 (10:73248891 A>G), RS1000168196 (10:73244053 C>A,T), RS1000231874 (10:73248522 T>C), RS1000524175 (10:73246445 A>G), RS1000640048 (10:73244726 A>G), RS1000896327 (10:73235037 G>C), RS1001211111 (10:73248877 A>G), RS1001285706 (10:73240130 G>A), RS1001633383 (10:73233351 A>G,T), RS1001736594 (10:73239808 A>G,T), RS1001878840 (10:73243567 A>C,G), RS1002067044 (10:73238352 C>A,G,T)

Disease associations

OMIM: gene MIM:611206 | disease phenotypes: MIM:618763

GenCC curated gene-disease

Mondo (1): Joubert syndrome 36 (MONDO:0032902)

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5724805 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.06	Kd	8796	nM	CHEMBL3752910
5.06	ED50	8796	nM	CHEMBL3752910

PubChem BioAssay actives

1 with measured affinity, of 8 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149854: Binding affinity to human DNAJC9 incubated for 45 mins by Kinobead based pull down assay	kd	8.7964	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, affects cotreatment, increases abundance	2
Chenodeoxycholic Acid	affects cotreatment, decreases expression, increases expression	2
Deoxycholic Acid	increases expression, affects cotreatment, decreases expression	2
Glycochenodeoxycholic Acid	affects cotreatment, decreases expression, increases expression	2
Glycocholic Acid	affects cotreatment, decreases expression, increases expression	2
Glycodeoxycholic Acid	affects cotreatment, decreases expression, increases expression	2
Cadmium Chloride	decreases expression, increases abundance, increases expression, increases methylation	2
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
uranyl acetate	affects expression	1
6-hydroxy-5-((p- sulfophenyl)azo)-2-naphthalenesulfonic acid disodium salt	affects cotreatment, increases expression	1
glycidyl methacrylate	increases expression	1
sodium arsenate	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
perfluorooctanoic acid	decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
coumarin	increases phosphorylation	1
2-palmitoylglycerol	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
ICG 001	increases expression	1
Grape Seed Proanthocyanidins	decreases expression, affects cotreatment	1
LDN 193189	increases expression, affects cotreatment	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
Atazanavir Sulfate	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Arsenic Trioxide	increases expression	1
Acetaminophen	increases expression	1
Air Pollutants, Occupational	affects expression	1

ChEMBL screening assays

7 unique, capped per target: 7 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652896	Binding	Binding affinity to human DNAJC9 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B9W2	Abcam HEK293T DNAJC9 KO	Transformed cell line	Female

Clinical trials (associated diseases)

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