DNAJB12

Summary

DNAJB12 (DnaJ heat shock protein family (Hsp40) member B12, HGNC:14891) is a protein-coding gene on chromosome 10q22.1, encoding DnaJ homolog subfamily B member 12 (Q9NXW2). Acts as a co-chaperone with HSPA8/Hsc70; required to promote protein folding and trafficking, prevent aggregation of client proteins, and promote unfolded proteins to endoplasmic reticulum-associated degradation (ERAD) pathway.

DNAJB12 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 (Ohtsuka and Hata, 2000 [PubMed 11147971]).

Source: NCBI Gene 54788 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 74 total
• Druggable target: yes
• MANE Select transcript: NM_017626

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14891
Approved symbol	DNAJB12
Name	DnaJ heat shock protein family (Hsp40) member B12
Location	10q22.1
Locus type	gene with protein product
Status	Approved
Aliases	DJ10, FLJ20027
Ensembl gene	ENSG00000148719
Ensembl biotype	protein_coding
OMIM	608376
Entrez	54788

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 10 protein_coding, 1 retained_intron

ENST00000338820, ENST00000394903, ENST00000444643, ENST00000461919, ENST00000463786, ENST00000473051, ENST00000876766, ENST00000876767, ENST00000876768, ENST00000926394, ENST00000967016

RefSeq mRNA: 4 — MANE Select: NM_017626 NM_001002762, NM_001365080, NM_001365081, NM_017626

CCDS: CCDS7316

Canonical transcript exons

ENST00000444643 — 9 exons

Exon	Start	End
ENSE00000986997	72344950	72345127
ENSE00001519957	72335780	72335931
ENSE00001884528	72354765	72354919
ENSE00001901147	72332863	72334617
ENSE00003679224	72343366	72343511
ENSE00003702617	72340789	72340868
ENSE00003705590	72336524	72336696
ENSE00003706955	72340985	72341170
ENSE00003707848	72338202	72338311

Expression profiles

Bgee: expression breadth ubiquitous, 290 present calls, max score 93.44.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 42.1981 / max 244.2389, expressed in 1821 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
110005	28.2257	1821
110007	11.1300	1791
110006	2.5663	1585
110002	0.1625	54
110003	0.1136	51

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tongue squamous epithelium	UBERON:0006919	93.44	gold quality
diaphragm	UBERON:0001103	93.27	silver quality
type B pancreatic cell	CL:0000169	93.07	gold quality
gluteal muscle	UBERON:0002000	92.15	gold quality
triceps brachii	UBERON:0001509	92.05	gold quality
olfactory bulb	UBERON:0002264	91.63	silver quality
tibial nerve	UBERON:0001323	91.54	gold quality
nasal cavity epithelium	UBERON:0005384	91.37	gold quality
left adrenal gland	UBERON:0001234	91.20	gold quality
right adrenal gland cortex	UBERON:0035827	91.19	gold quality
right adrenal gland	UBERON:0001233	91.14	gold quality
left adrenal gland cortex	UBERON:0035825	91.06	gold quality
gastrocnemius	UBERON:0001388	91.02	gold quality
monocyte	CL:0000576	90.82	gold quality
mononuclear cell	CL:0000842	90.80	gold quality
leukocyte	CL:0000738	90.78	gold quality
granulocyte	CL:0000094	90.76	gold quality
muscle of leg	UBERON:0001383	90.69	gold quality
adrenal cortex	UBERON:0001235	90.63	gold quality
male germ cell	CL:0000015	90.50	gold quality
sperm	CL:0000019	90.23	gold quality
hindlimb stylopod muscle	UBERON:0004252	90.22	gold quality
muscle organ	UBERON:0001630	90.19	gold quality
epithelial cell of pancreas	CL:0000083	90.16	gold quality
adrenal gland	UBERON:0002369	90.16	gold quality
minor salivary gland	UBERON:0001830	90.06	gold quality
skin of leg	UBERON:0001511	89.98	gold quality
apex of heart	UBERON:0002098	89.92	gold quality
renal glomerulus	UBERON:0000074	89.87	gold quality
body of stomach	UBERON:0001161	89.85	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.57

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): KDM5B

miRNA regulators (miRDB)

121 targeting DNAJB12, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-4493	99.90	66.48	977
HSA-MIR-4731-5P	99.89	67.23	2537

Literature-anchored findings (GeneRIF, showing 6)

• JB12 cooperates with cytosolic Hsc70 and the ubiquitin ligase RMA1 to target CFTR and CFTRDeltaF508 for degradation. (PMID:21148293)
• DNAJB12 is a novel mammalian ER-localized J-protein that plays a vital role in the quality control of membrane proteins (PMID:21150129)
• Over-expression of DNAJB12 or DNAJB14 causes the formation of elaborate membranous structures within cell nuclei, designated DJANGOS for DNAJ-associated nuclear globular structures. (PMID:24732912)
• ER-located J-protein chaperones were identified as key regulators for the iogenesis and physiological function of ERG K+ channels. They regulate two distinct aspects of K+ channel biogenesis, the stabilization and assembly of channel subunits. (PMID:27916661)
• Data suggest that endoplasmic reticulum (ER) stress-induced apoptosis in hepatoma cells is regulated by highly labile and ER-associated BCL-2 family member BOK, which is controlled at level of protein stability by ER-associated degradation components; DNAJB12 is required in hepatoma cells to maintain BOK at low levels and suppress ER stress. (DNAJB12 = DnaJ (Hsp40) homolog, subfamily B, member 12) (PMID:28536268)
• DNAJB12 and DNJB14 are non-redundant Hsp40 redox chaperones involved in endoplasmic reticulum protein reflux. (PMID:37925033)

Cross-species orthologs

11 orthologs

Organism	Symbol	Gene ID
danio_rerio	dnajb12a	ENSDARG00000039363
danio_rerio	dnajb12b	ENSDARG00000087473
mus_musculus	Dnajb12	ENSMUSG00000020109
rattus_norvegicus	Dnajb12	ENSRNOG00000030408
drosophila_melanogaster	CG2887	FBGN0030207
drosophila_melanogaster	CG5001	FBGN0031322
drosophila_melanogaster	CG3061	FBGN0038195
drosophila_melanogaster	CG30156	FBGN0050156
drosophila_melanogaster	DnaJ-1	FBGN0263106
caenorhabditis_elegans		WBGENE00001019
caenorhabditis_elegans		WBGENE00001044

Paralogs (11): DNAJB11 (ENSG00000090520), DNAJB6 (ENSG00000105993), DNAJB9 (ENSG00000128590), DNAJB1 (ENSG00000132002), DNAJB2 (ENSG00000135924), DNAJB5 (ENSG00000137094), DNAJB4 (ENSG00000162616), DNAJB14 (ENSG00000164031), DNAJB7 (ENSG00000172404), DNAJB8 (ENSG00000179407), DNAJB13 (ENSG00000187726)

Protein

Protein identifiers

DnaJ homolog subfamily B member 12 — Q9NXW2 (reviewed: Q9NXW2)

All UniProt accessions (4): Q9NXW2, J3KPS0, V9GY70, V9GYN7

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a co-chaperone with HSPA8/Hsc70; required to promote protein folding and trafficking, prevent aggregation of client proteins, and promote unfolded proteins to endoplasmic reticulum-associated degradation (ERAD) pathway. Acts by determining HSPA8/Hsc70’s ATPase and polypeptide-binding activities. Can also act independently of HSPA8/Hsc70: together with DNAJB14, acts as a chaperone that promotes maturation of potassium channels KCND2 and KCNH2 by stabilizing nascent channel subunits and assembling them into tetramers. While stabilization of nascent channel proteins is dependent on HSPA8/Hsc70, the process of oligomerization of channel subunits is independent of HSPA8/Hsc70. When overexpressed, forms membranous structures together with DNAJB14 and HSPA8/Hsc70 within the nucleus; the role of these structures, named DJANGOs, is still unclear. (Microbial infection) In case of infection by polyomavirus, involved in the virus endoplasmic reticulum membrane penetration and infection.

Subunit / interactions. Homodimer and homotetramer. Interacts (via J domain) with HSPA8/Hsc70. Forms a multiprotein complex, at least composed of DNAJB12, DNAJB14, HSPA8/Hsc70 and SGTA; interaction with DNAJB14 and HSPA8/Hsc70 is direct.

Subcellular location. Endoplasmic reticulum membrane. Nucleus membrane.

Post-translational modifications. Methylated at His-185 by METTL9.

Similarity. Belongs to the DnaJ family. DNAJB12/DNAJB14 subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9NXW2-1	1	yes
Q9NXW2-2	2

RefSeq proteins (4): NP_001002762, NP_001352009, NP_001352010, NP_060096* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001623	DnaJ_domain	Domain
IPR015399	DUF1977_DnaJ-like	Domain
IPR018253	DnaJ_domain_CS	Conserved_site
IPR036869	J_dom_sf	Homologous_superfamily
IPR051100	DnaJ_subfamily_B/C	Family

Pfam: PF00226, PF09320

UniProt features (22 total): helix 4, mutagenesis site 3, sequence conflict 3, topological domain 2, modified residue 2, chain 1, sequence variant 1, turn 1, transmembrane region 1, domain 1, region of interest 1, compositionally biased region 1, splice variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2CTP	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NXW2-F1	76.97	0.41

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): 1, 185

Mutagenesis-validated functional residues (3):

Position	Phenotype
138	abolishes interaction with hspa8/hsc70.
184–212	in delta(g/f); impaired ability to form tetramers and impaired ability to promote potassium channel assembly into tetram
185	abolished histidine methylation by mettl9.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 181 (showing top): GOBP_RESPONSE_TO_NITROGEN_COMPOUND, FREAC2_01, TGCGCANK_UNKNOWN, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, MAZ_Q6, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_CELLULAR_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN, FERREIRA_EWINGS_SARCOMA_UNSTABLE_VS_STABLE_DN, GOBP_PROTEIN_MATURATION, MODULE_379, WTGAAAT_UNKNOWN, FOXJ2_01, HNF4_DR1_Q3

GO Biological Process (4): protein folding (GO:0006457), ERAD pathway (GO:0036503), protein-containing complex assembly (GO:0065003), cellular response to misfolded protein (GO:0071218)

GO Molecular Function (1): Hsp70 protein binding (GO:0030544)

GO Cellular Component (5): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), 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 process	1
protein maturation	1
proteasomal protein catabolic process	1
response to endoplasmic reticulum stress	1
response to chemical	1
cellular component assembly	1
protein-containing complex organization	1
cellular response to topologically incorrect protein	1
response to misfolded protein	1
heat shock protein binding	1
protein-folding chaperone binding	1
cytoplasm	1
endomembrane system	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cellular anatomical structure	1
nucleus	1
nuclear envelope	1

Protein interactions and networks

STRING

2437 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DNAJB12	HSPA8	P11142	750
DNAJB12	SGTA	O43765	724
DNAJB12	RNF5	Q99942	630
DNAJB12	HSPH1	Q92598	627
DNAJB12	TTC19	Q6DKK2	606
DNAJB12	BLMH	Q13867	581
DNAJB12	EMC1	Q8N766	532
DNAJB12	WDR73	Q6P4I2	527
DNAJB12	BAG2	O95816	524
DNAJB12	AMFR	P26442	476
DNAJB12	LYRM4	Q9HD34	474
DNAJB12	RFFL	Q8WZ73	471
DNAJB12	USP37	Q86T82	468
DNAJB12	HSPA4	P34932	464
DNAJB12	MORF4L1	Q9UBU8	452

IntAct

76 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	HAX1	psi-mi:“MI:0914”(association)	0.610
RPN1	APBB1	psi-mi:“MI:0914”(association)	0.530
ALK	PIK3R2	psi-mi:“MI:0914”(association)	0.420
CABYR	DNAJB12	psi-mi:“MI:0915”(physical association)	0.400
		psi-mi:“MI:0914”(association)	0.350
E5	ESYT2	psi-mi:“MI:0914”(association)	0.350
MAPK6		psi-mi:“MI:0914”(association)	0.350
RIPK4	VWA8	psi-mi:“MI:0914”(association)	0.350
PB1	HAX1	psi-mi:“MI:0914”(association)	0.350
PB1	ESYT2	psi-mi:“MI:0914”(association)	0.350
PB1		psi-mi:“MI:0914”(association)	0.350
PB2	ESYT2	psi-mi:“MI:0914”(association)	0.350
MME		psi-mi:“MI:0914”(association)	0.350
Mecom	ESYT2	psi-mi:“MI:0914”(association)	0.350
APP	MGST3	psi-mi:“MI:0914”(association)	0.350
PSEN1	PGRMC1	psi-mi:“MI:0914”(association)	0.350
CD74		psi-mi:“MI:0914”(association)	0.350
P2RY6	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC15A3		psi-mi:“MI:0914”(association)	0.350
UNC93B1		psi-mi:“MI:0914”(association)	0.350
P2RY6		psi-mi:“MI:0914”(association)	0.350
P2RY6	RAVER1	psi-mi:“MI:0914”(association)	0.350

BioGRID (233): HSPA2 (Co-fractionation), HSPA8 (Co-fractionation), HSPA9 (Co-fractionation), DNAJB12 (Affinity Capture-MS), DNAJB12 (Affinity Capture-MS), DNAJB12 (Affinity Capture-RNA), DNAJB12 (Affinity Capture-MS), DNAJB12 (Affinity Capture-MS), DNAJB12 (Biochemical Activity), DNAJB12 (Affinity Capture-MS), DNAJB12 (Affinity Capture-MS), DNAJB12 (Affinity Capture-MS), DNAJB12 (Affinity Capture-MS), DNAJB12 (Affinity Capture-MS), DNAJB12 (Affinity Capture-MS)

ESM2 similar proteins: A0A0D1E2P6, A0A0D2XVZ5, A0A0P0VG31, A0A0P1AAU8, A0A287B8J2, A2WYG9, A4QP73, B9EHT4, B9F2Y7, D0NCC1, J9VKM5, O08788, O59739, P0C7L7, P0CP26, P0CP27, P14725, P28023, P39742, P82874, P92792, Q10MW6, Q13217, Q14203, Q149L6, Q27968, Q28I38, Q54M21, Q54NS3, Q58DR2, Q5JJI4, Q5JNB5, Q5R686, Q5R6H3, Q5ZI13, Q6PCJ1, Q6YUL8, Q7ZXQ8, Q8TBM8, Q91YW3

Diamond homologs: A0LJ41, A1V9Q3, A1WAR7, A1WX30, A2ALW5, A3DF24, A4IR30, A5ITA7, A5WBF8, A6QHC2, A6U251, A7GT07, A7X2Y0, A7Z6W0, A8FFD1, A8Z4B8, A9KE65, A9NDK6, A9VHU0, B0JW23, B0VQ00, B1HUD0, B1WVR2, B1Y787, B1YKT0, B2GBQ6, B2I2G6, B2J3J3, B3EE31, B7GV08, B7HPL2, B7I2B2, B7JN38, B8CXL0, B8FUN3, B9DNJ9, B9IY80, C1ESK7, C3L5R6, C3P8L9

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
DNAJB12	“up-regulates activity”	HSPA8	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 87 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
Regulation of CDH1 posttranslational processing and trafficking to plasma membrane	5	28.0×	4e-04
Maturation of spike protein	5	22.1×	6e-04
Maturation of DENV proteins	5	17.6×	9e-04
MAPK6/MAPK4 signaling	5	11.3×	6e-03
Interleukin-1 signaling	5	10.3×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	58
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1389 predictions. Top by Δscore:

Variant	Effect	Δscore
10:72335932:C:CC	acceptor_gain	1.0000
10:72336520:TCA:T	donor_loss	1.0000
10:72336521:CACT:C	donor_loss	1.0000
10:72336522:A:AC	donor_gain	1.0000
10:72336522:ACT:A	donor_gain	1.0000
10:72336522:ACTC:A	donor_loss	1.0000
10:72336523:C:CT	donor_gain	1.0000
10:72336523:CT:C	donor_gain	1.0000
10:72336523:CTC:C	donor_gain	1.0000
10:72336523:CTCT:C	donor_gain	1.0000
10:72336523:CTCTG:C	donor_gain	1.0000
10:72336539:T:TA	donor_gain	1.0000
10:72336642:A:C	acceptor_gain	1.0000
10:72336702:C:T	acceptor_gain	1.0000
10:72338201:CGGT:C	donor_gain	1.0000
10:72340983:A:AC	donor_gain	1.0000
10:72340984:C:CA	donor_gain	1.0000
10:72340984:CT:C	donor_gain	1.0000
10:72340984:CTA:C	donor_gain	1.0000
10:72340984:CTAG:C	donor_gain	1.0000
10:72340984:CTAGA:C	donor_gain	1.0000
10:72341166:AATGG:A	acceptor_gain	1.0000
10:72341167:ATGG:A	acceptor_gain	1.0000
10:72341167:ATGGC:A	acceptor_gain	1.0000
10:72341168:TGG:T	acceptor_gain	1.0000
10:72341168:TGGC:T	acceptor_gain	1.0000
10:72341169:GG:G	acceptor_gain	1.0000
10:72341169:GGC:G	acceptor_gain	1.0000
10:72341170:GC:G	acceptor_gain	1.0000
10:72341171:C:CA	acceptor_loss	1.0000

AlphaMissense

2473 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:72335850:C:G	C363S	1.000
10:72335850:C:T	C363Y	1.000
10:72335851:A:G	C363R	1.000
10:72335851:A:T	C363S	1.000
10:72335910:G:T	A343E	1.000
10:72335911:C:G	A343P	1.000
10:72336543:G:C	C329W	1.000
10:72336544:C:A	C329F	1.000
10:72336544:C:G	C329S	1.000
10:72336544:C:T	C329Y	1.000
10:72336545:A:G	C329R	1.000
10:72336545:A:T	C329S	1.000
10:72336553:C:G	R326P	1.000
10:72336556:A:G	L325P	1.000
10:72338268:A:T	L256Q	1.000
10:72338280:G:C	P252R	1.000
10:72338280:G:T	P252H	1.000
10:72341004:A:C	F208L	1.000
10:72341004:A:T	F208L	1.000
10:72341006:A:G	F208L	1.000
10:72341006:A:T	F208I	1.000
10:72341007:G:C	F207L	1.000
10:72341007:G:T	F207L	1.000
10:72341008:A:G	F207S	1.000
10:72341009:A:G	F207L	1.000
10:72341016:G:C	F204L	1.000
10:72341016:G:T	F204L	1.000
10:72341017:A:C	F204C	1.000
10:72341017:A:G	F204S	1.000
10:72341018:A:G	F204L	1.000

dbSNP variants (sampled 300 via entrez): RS1000016676 (10:72335138 A>G), RS1000248148 (10:72334687 A>G), RS1000339441 (10:72346708 A>C,G,T), RS1000487019 (10:72337297 T>C), RS1000612763 (10:72353689 G>A,C), RS1000774514 (10:72337515 G>A), RS1000821776 (10:72335996 C>G,T), RS1000857383 (10:72347011 C>A,T), RS1000910146 (10:72342021 G>A), RS1001010148 (10:72347862 G>A), RS1001093841 (10:72347691 G>A), RS1001133019 (10:72354621 C>T), RS1001258842 (10:72340524 G>C,T), RS1001354624 (10:72346626 A>C), RS1001517471 (10:72335449 C>A,T)

Disease associations

OMIM: gene MIM:608376 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST006291_8	Spherical equivalent or myopia (age of diagnosis)	2.000000e-08
GCST010002_290	Refractive error	2.000000e-17

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004847	age at onset

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066345 (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
9.09	Kd	0.81	nM	CHEMBL5653589
9.09	ED50	0.81	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 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-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148251: Binding affinity to human DNAJB12 incubated for 45 mins by Kinobead based pull down assay	kd	0.0008	uM

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation, increases expression, decreases expression	4
Valproic Acid	affects expression, decreases expression, increases expression, increases methylation	3
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
triphenyl phosphate	affects expression	1
titanium dioxide	decreases methylation	1
trichostatin A	affects expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
entinostat	increases expression	1
nutlin 3	affects cotreatment, increases secretion	1
bisphenol B	increases expression	1
Vorinostat	decreases expression	1
Amiodarone	increases expression	1
Arsenic	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Cisplatin	affects cotreatment, increases expression	1
Dactinomycin	affects cotreatment, increases secretion	1
Piroxicam	increases expression, affects cotreatment	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Aflatoxin B1	decreases methylation	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651293	Binding	Binding affinity to human DNAJB12 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

Clinical trials (associated diseases)

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