DNAJC2

Summary

DNAJC2 (DnaJ heat shock protein family (Hsp40) member C2, HGNC:13192) is a protein-coding gene on chromosome 7q22.1, encoding DnaJ homolog subfamily C member 2 (Q99543). Acts both as a chaperone in the cytosol and as a chromatin regulator in the nucleus.

This gene is a member of the M-phase phosphoprotein (MPP) family. The gene encodes a phosphoprotein with a J domain and a Myb DNA-binding domain which localizes to both the nucleus and the cytosol. The protein is capable of forming a heterodimeric complex that associates with ribosomes, acting as a molecular chaperone for nascent polypeptide chains as they exit the ribosome. This protein was identified as a leukemia-associated antigen and expression of the gene is upregulated in leukemic blasts. Also, chromosomal aberrations involving this gene are associated with primary head and neck squamous cell tumors. This gene has a pseudogene on chromosome 6. Alternatively spliced variants which encode different protein isoforms have been described.

Source: NCBI Gene 27000 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 81 total
• MANE Select transcript: NM_014377

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13192
Approved symbol	DNAJC2
Name	DnaJ heat shock protein family (Hsp40) member C2
Location	7q22.1
Locus type	gene with protein product
Status	Approved
Aliases	MPP11, MPHOSPH11, ZUO1, zuotin
Ensembl gene	ENSG00000105821
Ensembl biotype	protein_coding
OMIM	605502
Entrez	27000

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 6 protein_coding, 5 retained_intron, 1 nonsense_mediated_decay

ENST00000249270, ENST00000379257, ENST00000379263, ENST00000412522, ENST00000426036, ENST00000454277, ENST00000464253, ENST00000475065, ENST00000475090, ENST00000483637, ENST00000492497, ENST00000915316

RefSeq mRNA: 4 — MANE Select: NM_014377 NM_001129887, NM_001362667, NM_001362668, NM_014377

CCDS: CCDS43628, CCDS47679

Canonical transcript exons

ENST00000379263 — 17 exons

Exon	Start	End
ENSE00000881669	103341764	103341954
ENSE00001530457	103344559	103344767
ENSE00001600304	103322511	103322632
ENSE00001628196	103322703	103322794
ENSE00003460086	103326543	103326684
ENSE00003464847	103312289	103312643
ENSE00003497042	103315988	103316088
ENSE00003500195	103316830	103317014
ENSE00003501070	103327656	103327754
ENSE00003594972	103337736	103337811
ENSE00003613992	103323598	103323663
ENSE00003625802	103312947	103313101
ENSE00003628578	103315764	103315871
ENSE00003650531	103321932	103322081
ENSE00003656999	103319609	103319678
ENSE00003671914	103319756	103319844
ENSE00003686219	103324482	103324562

Expression profiles

Bgee: expression breadth ubiquitous, 296 present calls, max score 96.10.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.4374 / max 383.0341, expressed in 1819 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
85375	27.6253	1817
85376	1.8121	944

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	96.10	gold quality
tendon of biceps brachii	UBERON:0008188	94.33	gold quality
gluteal muscle	UBERON:0002000	93.92	gold quality
nasal cavity epithelium	UBERON:0005384	93.77	gold quality
cartilage tissue	UBERON:0002418	93.47	gold quality
hair follicle	UBERON:0002073	93.45	gold quality
tongue squamous epithelium	UBERON:0006919	93.43	gold quality
cervix squamous epithelium	UBERON:0006922	93.38	gold quality
tendon	UBERON:0000043	93.09	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	92.90	gold quality
cervix epithelium	UBERON:0004801	92.42	gold quality
calcaneal tendon	UBERON:0003701	92.39	gold quality
sperm	CL:0000019	92.24	gold quality
monocyte	CL:0000576	92.05	gold quality
mononuclear cell	CL:0000842	92.03	gold quality
mucosa of paranasal sinus	UBERON:0005030	92.02	gold quality
epithelial cell of pancreas	CL:0000083	92.00	gold quality
superficial temporal artery	UBERON:0001614	92.00	gold quality
male germ cell	CL:0000015	91.99	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	91.96	gold quality
left testis	UBERON:0004533	91.89	gold quality
testis	UBERON:0000473	91.84	gold quality
mucosa of sigmoid colon	UBERON:0004993	91.79	gold quality
mucosa of urinary bladder	UBERON:0001259	91.78	gold quality
gastrocnemius	UBERON:0001388	91.55	gold quality
nasal cavity mucosa	UBERON:0001826	91.45	gold quality
leukocyte	CL:0000738	91.44	gold quality
oviduct epithelium	UBERON:0004804	91.36	gold quality
colonic epithelium	UBERON:0000397	91.29	gold quality
epithelium of nasopharynx	UBERON:0001951	91.28	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-7606	no	1175.72
E-MTAB-11011	no	229.98
E-MTAB-6386	no	142.11
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
PRC1

Literature-anchored findings (GeneRIF, showing 16)

• concluded that Mpp11, an ortholog of yeast Zuo, is a ribosome-associated J protein; proposed that in metazoans, ribosome-associated Zuo and Mpp11 orthologs recruit cytosolic Hsc70 to short ribosome-bound nascent chains as they exit the ribosome (PMID:15802566)
• MPP11 is localized to the cytosol and with Hsp70L1, forms the mammalian ribosome-associated complex. (PMID:16002468)
• describe a novel epitope derived from the MPP11 antigen that has been recognized by human CD8+ CTL (PMID:20231810)
• At the onset of differentiation, ZRF1 specifically displaces polycomb-repressive complex 1 (PRC1) from chromatin and facilitates transcriptional activation (PMID:21179169)
• the majority of AML patients elicited a humoral immune response against the tumor antigen MPP11 (PMID:22433847)
• ZRF1 regulates the INK4-ARF locus during cellular proliferation and senescence, and alterations in ZRF1 may contribute to tumorigenesis. (PMID:22733129)
• our data reveal that ZRF1 is a key transcriptional regulator in leukemia progression (PMID:24292673)
• Zrf1 plays an essential role in neural progenitor cell generation and maintenance (PMID:24449271)
• Zrf1 is transcriptional regulator of neural fate downstream of Id1 in embryonic stem cells.During embryonic stem cell differentiation, Id1 levels decrease allowing Zrf1 to activate neural genes. (PMID:25361733)
• ZRF1 mediates remodeling of this E3 ligase complex directly at the DNA lesion site. (PMID:27091446)
• Unexplored functions of ZRF1-mediated remodeling in replication and double strand break repair are discussed. (PMID:27599465)
• The antibody response to ZRF1 was higher in sera of patients with invasive ductal carcinoma than in sera of patients with other histological types of breast tumors. (PMID:27847402)
• In response to UV irradiation, DICER is recruited to chromatin in a ZRF1-mediated manner. The H2A-ubiquitin binding protein ZRF1 and DICER together impact on the chromatin conformation via PARP1. (PMID:28402505)
• These findings suggest that ZRF1 plays a crucial role in tumor malignant potential through its overexpression and highlight its usefulness as a prognostic factor and potential therapeutic target in gastric cancer (PMID:29228320)
• DNAJC2 is reversely regulated by miR6273p, promoting the proliferation of colorectal cancer. (PMID:34165158)
• p113 isoform encoded by CUX1 circular RNA drives tumor progression via facilitating ZRF1/BRD4 transactivation. (PMID:34579723)

Cross-species orthologs

11 orthologs

Organism	Symbol	Gene ID
danio_rerio	dnajc2	ENSDARG00000070477
mus_musculus	Dnajc2	ENSMUSG00000029014
rattus_norvegicus	Dnajc2	ENSRNOG00000012392
drosophila_melanogaster	CG10565	FBGN0037051
drosophila_melanogaster	l(3)80Fg	FBGN0287183
caenorhabditis_elegans		WBGENE00001020
caenorhabditis_elegans		WBGENE00001025
caenorhabditis_elegans		WBGENE00001026
caenorhabditis_elegans		WBGENE00001029
caenorhabditis_elegans	dnj-28	WBGENE00001046
caenorhabditis_elegans		WBGENE00008122

Paralogs (20): DNAJC11 (ENSG00000007923), DNAJC25 (ENSG00000059769), DNAJC10 (ENSG00000077232), DNAJC5 (ENSG00000101152), DNAJC3 (ENSG00000102580), DNAJC17 (ENSG00000104129), 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), DNAJC9 (ENSG00000213551)

Protein

Protein identifiers

DnaJ homolog subfamily C member 2 — Q99543 (reviewed: Q99543)

Alternative names: M-phase phosphoprotein 11, Zuotin-related factor 1

All UniProt accessions (5): Q99543, C9IZ83, F2Z3H0, F2Z3N9, H7C3L7

UniProt curated annotations — full annotation on UniProt →

Function. Acts both as a chaperone in the cytosol and as a chromatin regulator in the nucleus. When cytosolic, acts as a molecular chaperone: component of the ribosome-associated complex (RAC), a complex involved in folding or maintaining nascent polypeptides in a folding-competent state. In the RAC complex, stimulates the ATPase activity of the ribosome-associated pool of Hsp70-type chaperones HSPA14 that bind to the nascent polypeptide chain. When nuclear, mediates the switching from polycomb-repressed genes to an active state: specifically recruited at histone H2A ubiquitinated at ‘Lys-119’ (H2AK119ub), and promotes the displacement of the polycomb PRC1 complex from chromatin, thereby facilitating transcription activation.

Subunit / interactions. Component of ribosome-associated complex (RAC), a heterodimer composed of Hsp70/DnaK-type chaperone HSPA14 and Hsp40/DnaJ-type chaperone DNAJC2. Interacts (via ZRF1-UBD region) with ID1.

Subcellular location. Nucleus. Cytoplasm. Cytosol.

Tissue specificity. Widely expressed.

Post-translational modifications. Phosphorylated in M (mitotic) phase.

Domain organisation. The ZRF1-UBD region specifically recognizes and binds H2AK119ub. The ZRF1-UBD region is also involved in protein-protein interactions with other proteins, suggesting that it may be masked by some regulator, thereby preventing its association with H2AK119ub.

Induction. Expression is repressed by CEBPA. Strongly overexpressed in leukemic cells.

Miscellaneous. Constitutes a myeloid leukemia-associated antigen and might be a target for leukemia T-cell therapy.

Isoforms (2)

UniProt ID	Names	Canonical?
Q99543-1	1	yes
Q99543-2	2

RefSeq proteins (4): NP_001123359, NP_001349596, NP_001349597, NP_055192* (*=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
IPR017930	Myb_dom	Domain
IPR018253	DnaJ_domain_CS	Conserved_site
IPR032003	RAC_head	Domain
IPR036869	J_dom_sf	Homologous_superfamily
IPR042569	RAC_head_sf	Homologous_superfamily
IPR044634	Zuotin/DnaJC2	Family
IPR054076	ZUO1-like_ZHD	Domain

Pfam: PF00226, PF16717, PF21884, PF23082

UniProt features (28 total): helix 7, modified residue 5, region of interest 4, sequence conflict 3, domain 3, chain 2, initiator methionine 1, splice variant 1, mutagenesis site 1, turn 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
2M2E	SOLUTION NMR
6CGH	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q99543-F1	85.51	0.56

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 (5): 1, 47, 49, 60, 63

Mutagenesis-validated functional residues (1):

Position	Phenotype
512–513	loss of function.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-3371453	Regulation of HSF1-mediated heat shock response

MSigDB gene sets: 173 (showing top): RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_HEAT, PUJANA_CHEK2_PCC_NETWORK, GOBP_PROTEIN_MATURATION, ONKEN_UVEAL_MELANOMA_UP, GOBP_NEGATIVE_REGULATION_OF_DNA_BIOSYNTHETIC_PROCESS, DACOSTA_UV_RESPONSE_VIA_ERCC3_TTD_DN, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, DER_IFN_BETA_RESPONSE_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, GOBP_PROTEIN_FOLDING, GOBP_DNA_BIOSYNTHETIC_PROCESS, GOBP_CELLULAR_RESPONSE_TO_HEAT, DEBIASI_APOPTOSIS_BY_REOVIRUS_INFECTION_UP, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS

GO Biological Process (7): DNA replication (GO:0006260), regulation of translational fidelity (GO:0006450), positive regulation of DNA-templated transcription (GO:0045893), ‘de novo’ cotranslational protein folding (GO:0051083), regulation of cellular response to heat (GO:1900034), negative regulation of DNA biosynthetic process (GO:2000279), chromatin organization (GO:0006325)

GO Molecular Function (8): ATPase activator activity (GO:0001671), chromatin binding (GO:0003682), RNA binding (GO:0003723), Hsp70 protein binding (GO:0030544), histone binding (GO:0042393), ribosome binding (GO:0043022), ubiquitin-modified histone reader activity (GO:0061649), protein binding (GO:0005515)

GO Cellular Component (6): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), cytosol (GO:0005829), nuclear membrane (GO:0031965)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Cellular response to heat stress	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
DNA biosynthetic process	2
binding	2
nuclear lumen	2
DNA metabolic process	1
regulation of biological quality	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
‘de novo’ protein folding	1
cellular response to heat	1
regulation of cellular response to stress	1
negative regulation of macromolecule biosynthetic process	1
negative regulation of DNA metabolic process	1
regulation of DNA biosynthetic process	1
cellular component organization	1
ATP-dependent activity	1
molecular function activator activity	1
nucleic acid binding	1
heat shock protein binding	1
protein-folding chaperone binding	1
protein binding	1
ribonucleoprotein complex binding	1
ubiquitin-modified protein reader activity	1
histone reader activity	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1
intracellular anatomical structure	1
cytoplasm	1
nucleus	1
nuclear envelope	1
organelle membrane	1

Protein interactions and networks

STRING

2588 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DNAJC2	HSPA14	Q0VDF9	982
DNAJC2	HSPA4	P34932	965
DNAJC2	DNAJB4	Q9UDY4	854
DNAJC2	HSPA8	P11142	776
DNAJC2	DNAJB1	P25685	775
DNAJC2	RPL31	P12947	726
DNAJC2	B0YIZ1	B0YIZ1	667
DNAJC2	ZPR1	O75312	646
DNAJC2	PDCD11	Q14690	601
DNAJC2	H2AC20	Q16777	581
DNAJC2	H2AC19	P20670	575
DNAJC2	DNAJA1	P31689	571
DNAJC2	ATP2B4	P23634	566
DNAJC2	CCNB1	P14635	558
DNAJC2	DNAJC24	Q6P3W2	557

IntAct

27 interactions, top by confidence:

A	B	Type	Score
DNAJC2	HSPA14	psi-mi:“MI:0915”(physical association)	0.670
HSPA14	DNAJC2	psi-mi:“MI:0914”(association)	0.670
H2AC11	DNAJC2	psi-mi:“MI:0915”(physical association)	0.500
DNAJC2	H2BC10	psi-mi:“MI:0915”(physical association)	0.400
DNAJC2	ID1	psi-mi:“MI:0915”(physical association)	0.400
Hspa14	TDG	psi-mi:“MI:0914”(association)	0.350
SGTB	ARHGAP32	psi-mi:“MI:0914”(association)	0.350
H2AC11	EED	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
LRRK2		psi-mi:“MI:0914”(association)	0.350
PAK4	SNRPE	psi-mi:“MI:0914”(association)	0.350
NEK7	SUPT5H	psi-mi:“MI:0914”(association)	0.350
rep	UQCRB	psi-mi:“MI:0914”(association)	0.350
DNAJC2	RPS3A	psi-mi:“MI:0914”(association)	0.350
DRG1	RPS3A	psi-mi:“MI:0914”(association)	0.350
HSPA14	SURF6	psi-mi:“MI:0914”(association)	0.350
GTF2E2	STX7	psi-mi:“MI:0914”(association)	0.350
PRKY	METTL15	psi-mi:“MI:0914”(association)	0.350
HNRNPCL2	SMCHD1	psi-mi:“MI:0914”(association)	0.350
USP47	LAMTOR5	psi-mi:“MI:0914”(association)	0.350
MTPN	PLCG1	psi-mi:“MI:0914”(association)	0.350
SERBP1	UBA6	psi-mi:“MI:0914”(association)	0.350
MND1	SH3PXD2B	psi-mi:“MI:0914”(association)	0.350
MILR1	SBNO1	psi-mi:“MI:0914”(association)	0.350

BioGRID (285): DDX5 (Co-fractionation), DNAJC2 (Co-fractionation), DNAJC2 (Co-fractionation), DNAJC2 (Co-fractionation), DNAJC2 (Co-fractionation), DNAJC2 (Co-fractionation), DNAJC2 (Co-fractionation), DNMT1 (Co-fractionation), HSPA14 (Co-fractionation), HSPA4L (Co-fractionation), HYOU1 (Co-fractionation), MYO6 (Co-fractionation), DNAJC2 (Affinity Capture-MS), DNAJC2 (Affinity Capture-MS), DNAJC2 (Affinity Capture-MS)

ESM2 similar proteins: E1C760, E7EXT2, F7AEX0, O00541, O02108, O57476, O94740, P29692, P54103, P79741, P97496, Q16543, Q1RMH9, Q24276, Q24740, Q3B8N8, Q3T095, Q3ZC62, Q4R3D4, Q4R8H2, Q567U6, Q5EAC6, Q5RAS1, Q5RKQ0, Q5ZKI4, Q5ZKM1, Q5ZKY4, Q61081, Q63692, Q640U7, Q68FR9, Q68FU8, Q69ZQ2, Q6AYB3, Q6GQI5, Q6NWJ4, Q6PDG5, Q7TNY6, Q7TQ20, Q7TQK5

Diamond homologs: B8A9B2, F4JVB8, P34454, P54103, Q1A173, Q1G3C4, Q1RMH9, Q4R8H2, Q58FS3, Q6NNN0, Q6NWJ4, Q6P2Y3, Q7TQ20, Q8GW75, Q8LH59, Q8S9H7, Q96KC8, Q99543, Q9FNN6, Q9SIJ5, A0AIS3, A0KMI5, A0Q1R3, A1KR91, A2SIR5, A5EYE5, A6LJ63, A6T4F5, A7Z6W0, A7ZHA5, A7ZVV8, A8FFD1, A9BNG6, A9LZV9, A9MR76, A9MXI3, B1IRF9, B1LFU5, B1XBE0, B1ZUS0

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
DNAJC2	“form complex”	“Ribosome-associated complex”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	61
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2128 predictions. Top by Δscore:

Variant	Effect	Δscore
7:103312937:A:C	donor_gain	1.0000
7:103315759:TTTA:T	donor_loss	1.0000
7:103315760:TTACC:T	donor_loss	1.0000
7:103315761:TACC:T	donor_loss	1.0000
7:103315762:A:T	donor_loss	1.0000
7:103315763:C:CT	donor_loss	1.0000
7:103315763:CCTT:C	donor_gain	1.0000
7:103315867:AGGGT:A	acceptor_gain	1.0000
7:103315868:GGGT:G	acceptor_gain	1.0000
7:103315869:GGT:G	acceptor_gain	1.0000
7:103315870:GT:G	acceptor_gain	1.0000
7:103315872:C:CC	acceptor_gain	1.0000
7:103315873:T:G	acceptor_loss	1.0000
7:103315879:A:AC	acceptor_gain	1.0000
7:103315879:A:C	acceptor_gain	1.0000
7:103316045:C:CT	acceptor_gain	1.0000
7:103316046:A:T	acceptor_gain	1.0000
7:103316907:T:TA	donor_gain	1.0000
7:103319603:TATTA:T	donor_loss	1.0000
7:103319604:ATTAC:A	donor_loss	1.0000
7:103319605:TTACC:T	donor_loss	1.0000
7:103319606:TACCT:T	donor_loss	1.0000
7:103319607:ACCT:A	donor_loss	1.0000
7:103319608:C:CT	donor_loss	1.0000
7:103321927:TATAC:T	donor_loss	1.0000
7:103321930:A:C	donor_loss	1.0000
7:103321931:C:G	donor_loss	1.0000
7:103321955:G:A	donor_gain	1.0000
7:103321960:T:TA	donor_gain	1.0000
7:103322077:CTTTG:C	acceptor_gain	1.0000

AlphaMissense

4130 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:103312639:A:G	L599P	1.000
7:103312954:C:G	R595P	1.000
7:103312962:G:C	C592W	1.000
7:103313007:C:A	W577C	1.000
7:103313007:C:G	W577C	1.000
7:103313009:A:G	W577R	1.000
7:103313009:A:T	W577R	1.000
7:103313010:T:A	R576S	1.000
7:103313010:T:G	R576S	1.000
7:103313045:C:G	A565P	1.000
7:103313078:A:G	W554R	1.000
7:103313078:A:T	W554R	1.000
7:103316020:A:T	V499D	1.000
7:103316057:G:C	H487D	1.000
7:103316075:C:G	A481P	1.000
7:103316077:A:T	I480N	1.000
7:103316085:C:A	W477C	1.000
7:103316085:C:G	W477C	1.000
7:103316086:C:G	W477S	1.000
7:103316087:A:G	W477R	1.000
7:103316087:A:T	W477R	1.000
7:103316088:T:A	R476S	1.000
7:103316088:T:G	R476S	1.000
7:103316830:C:A	R476I	1.000
7:103316830:C:G	R476T	1.000
7:103316831:T:C	R476G	1.000
7:103316842:C:T	G472E	1.000
7:103316843:C:G	G472R	1.000
7:103316843:C:T	G472R	1.000
7:103316845:G:T	A471D	1.000

dbSNP variants (sampled 300 via entrez): RS1000003336 (7:103344183 G>A,C), RS1000267442 (7:103320966 G>C), RS1000273187 (7:103332394 C>T), RS1000442108 (7:103315041 G>A), RS1000465639 (7:103337974 A>C), RS1000498409 (7:103336705 T>C), RS1000514424 (7:103339131 G>A), RS1000638608 (7:103331445 A>G), RS1000784337 (7:103321271 C>T), RS1000907253 (7:103343742 G>A), RS1001033487 (7:103312444 G>A), RS1001157350 (7:103329075 G>A), RS1001202645 (7:103336511 T>C), RS1001212453 (7:103333912 T>C), RS1001283895 (7:103333718 T>A)

Disease associations

OMIM: gene MIM:605502 | 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
GCST009391_944	Metabolite levels	9.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010402	triacylglycerol 46:2 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, decreases expression	2
sodium arsenite	decreases expression, increases activity, affects cotreatment, increases abundance, increases expression	2
Estradiol	increases expression	2
Tobacco Smoke Pollution	increases expression	2
Cyclosporine	increases expression	2
GSK-J4	increases expression	1
FR900359	affects phosphorylation	1
dicrotophos	decreases expression	1
methylmercuric chloride	increases expression	1
trichostatin A	affects expression	1
cobaltous chloride	increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
di-n-butylphosphoric acid	affects expression	1
2,3,5-(triglutathion-S-yl)hydroquinone	increases ADP-ribosylation	1
perfluoro-n-nonanoic acid	increases expression	1
ICG 001	decreases expression	1
jinfukang	decreases expression	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	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Benzo(a)pyrene	decreases methylation	1
Cadmium	increases abundance, decreases expression	1
Caffeine	increases phosphorylation	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Ivermectin	decreases expression	1
Manganese	affects cotreatment, increases abundance, increases expression	1
Mustard Gas	increases phosphorylation	1
Phenobarbital	affects expression	1
Quercetin	decreases expression	1
Ribonucleotides	affects binding	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2W0	Abcam HEK293T DNAJC2 KO	Transformed cell line	Female

Clinical trials (associated diseases)

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