ZNF146

Summary

ZNF146 (zinc finger protein 146, HGNC:12931) is a protein-coding gene on chromosome 19q13.1, encoding Zinc finger protein OZF (Q15072).

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in cytosol and nucleolus.

Source: NCBI Gene 7705 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 12 total
• MANE Select transcript: NM_007145

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12931
Approved symbol	ZNF146
Name	zinc finger protein 146
Location	19q13.1
Locus type	gene with protein product
Status	Approved
Aliases	OZF
Ensembl gene	ENSG00000167635
Ensembl biotype	protein_coding
OMIM	601505
Entrez	7705

Gene structure

Transcript identifiers

Ensembl transcripts: 55 — 52 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000443387, ENST00000456324, ENST00000586094, ENST00000587285, ENST00000591063, ENST00000877700, ENST00000877701, ENST00000877702, ENST00000877703, ENST00000877704, ENST00000877705, ENST00000877706, ENST00000877707, ENST00000877708, ENST00000877709, ENST00000877710, ENST00000877711, ENST00000877712, ENST00000877713, ENST00000877714, ENST00000877715, ENST00000877716, ENST00000877717, ENST00000877718, ENST00000877719, ENST00000877720, ENST00000877721, ENST00000919772, ENST00000919773, ENST00000919774, ENST00000919775, ENST00000919776, ENST00000919777, ENST00000919778, ENST00000919779, ENST00000919780, ENST00000919781, ENST00000919782, ENST00000919783, ENST00000919784, ENST00000919785, ENST00000919786, ENST00000919787, ENST00000919788, ENST00000919789, ENST00000919790, ENST00000919791, ENST00000919792, ENST00000964765, ENST00000964766, ENST00000964767, ENST00000964768, ENST00000964769, ENST00000964770, ENST00000964771

RefSeq mRNA: 3 — MANE Select: NM_007145 NM_001099638, NM_001099639, NM_007145

CCDS: CCDS12492

Canonical transcript exons

ENST00000443387 — 4 exons

Exon	Start	End
ENSE00001115136	36228748	36228819
ENSE00001478889	36218122	36218195
ENSE00002828926	36215106	36215196
ENSE00002948655	36235659	36238768

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 97.81.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 41.1421 / max 620.4743, expressed in 1805 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
175505	19.1766	1766
175504	14.3484	1737
175506	5.3132	1437
175503	2.0595	1189
175509	0.2443	76

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
parietal pleura	UBERON:0002400	97.81	gold quality
epithelium of nasopharynx	UBERON:0001951	97.69	gold quality
amniotic fluid	UBERON:0000173	97.66	gold quality
pleura	UBERON:0000977	97.57	gold quality
mammary duct	UBERON:0001765	97.56	gold quality
germinal epithelium of ovary	UBERON:0001304	97.52	gold quality
visceral pleura	UBERON:0002401	97.51	gold quality
epithelium of mammary gland	UBERON:0003244	97.44	gold quality
tibia	UBERON:0000979	97.43	gold quality
inferior vagus X ganglion	UBERON:0005363	97.34	gold quality
subthalamic nucleus	UBERON:0001906	97.21	gold quality
pericardium	UBERON:0002407	97.13	gold quality
endometrium	UBERON:0001295	97.03	gold quality
pylorus	UBERON:0001166	97.01	gold quality
hair follicle	UBERON:0002073	96.97	gold quality
cardia of stomach	UBERON:0001162	96.93	gold quality
endometrium epithelium	UBERON:0004811	96.87	gold quality
ventricular zone	UBERON:0003053	96.80	gold quality
superior surface of tongue	UBERON:0007371	96.71	gold quality
esophagus squamous epithelium	UBERON:0006920	96.64	gold quality
ganglionic eminence	UBERON:0004023	96.61	gold quality
embryo	UBERON:0000922	96.58	gold quality
lateral globus pallidus	UBERON:0002476	96.57	gold quality
renal medulla	UBERON:0000362	96.49	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	96.46	gold quality
tongue	UBERON:0001723	96.31	gold quality
globus pallidus	UBERON:0001875	96.27	gold quality
upper arm skin	UBERON:0004263	96.26	gold quality
medulla oblongata	UBERON:0001896	96.23	gold quality
body of tongue	UBERON:0011876	96.23	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.75

Regulation

Is transcription factor: yes

JASPAR motifs

Motif	Name	Family
MA2458.1	ZNF146	More than 3 adjacent zinc fingers

JASPAR matrix evidence (PMIDs): PMID:39605320

Upstream regulators (CollecTRI, top): MYC

miRNA regulators (miRDB)

63 targeting ZNF146, 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-3163	100.00	77.23	8605
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-576-5P	99.84	70.46	2582
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-3156-3P	99.76	66.72	939
HSA-MIR-4446-5P	99.72	69.19	2544
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-586	99.65	70.40	2051
HSA-MIR-3679-3P	99.64	69.88	1599
HSA-MIR-1251-3P	99.64	67.21	1408
HSA-MIR-587	99.64	70.86	2611
HSA-MIR-4743-3P	99.62	68.12	2095
HSA-MIR-1260A	99.61	66.67	1098
HSA-MIR-1260B	99.61	66.67	1098

Literature-anchored findings (GeneRIF, showing 7)

• OZF overexpression in tumours may alter the balance between hRap1 and other telomeric proteins; therefore OZF function may be linked to telomere regulation (PMID:15838871)
• OZF interacts with UBC9, the E2 enzyme involved in the covalent conjugation of the small ubiquitin-like modifier 1 (SUMO-1). (PMID:15881673)
• OZF is a Claspin-interacting protein essential to maintain the replication fork progression rate under replication stress. (PMID:32267586)
• LncRNA KCNQ1OT1 acts as miR-216b-5p sponge to promote colorectal cancer progression via up-regulating ZNF146. (PMID:33394291)
• ZNF146/OZF and ZNF507 target LINE-1 sequences. (PMID:35100360)
• Long Noncoding RNA ZBED5-AS1 Facilitates Tumor Progression and Metastasis in Lung Adenocarcinoma via ZNF146/ATR/Chk1 Axis. (PMID:37762228)
• ZNF146 regulates cell cycle progression via TFDP1 and DEPDC1B in ovarian cancer cells. (PMID:38614125)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Zfp146	ENSMUSG00000037029
rattus_norvegicus	LOC120095168	ENSRNOG00000006796
rattus_norvegicus	Zfp146	ENSRNOG00000067450

Paralogs (176): ZNF195 (ENSG00000005801), ZNF112 (ENSG00000062370), ZNF275 (ENSG00000063587), ZNF37A (ENSG00000075407), ZNF510 (ENSG00000081386), ZNF506 (ENSG00000081665), ZNF268 (ENSG00000090612), MZF1 (ENSG00000099326), ZNF629 (ENSG00000102870), ZNF175 (ENSG00000105497), ZNF85 (ENSG00000105750), ZFP30 (ENSG00000120784), ZNF45 (ENSG00000124459), ZNF391 (ENSG00000124613), ZNF436 (ENSG00000125945), ZNF484 (ENSG00000127081), ZNF835 (ENSG00000127903), ZNF780B (ENSG00000128000), ZSCAN10 (ENSG00000130182), ZNF317 (ENSG00000130803), ZNF331 (ENSG00000130844), ZNF227 (ENSG00000131115), ZNF141 (ENSG00000131127), ZNF132 (ENSG00000131849), ZNF189 (ENSG00000136870), ZIM3 (ENSG00000141946), ZFP14 (ENSG00000142065), ZNF514 (ENSG00000144026), ZNF300 (ENSG00000145908), RBAK (ENSG00000146587), ZNF157 (ENSG00000147117), ZNF182 (ENSG00000147118), ZNF41 (ENSG00000147124), ZNF7 (ENSG00000147789), ZNF117 (ENSG00000152926), ZNF221 (ENSG00000159905), ZNF235 (ENSG00000159917), ZNF714 (ENSG00000160352), ZNF577 (ENSG00000161551), ZNF12 (ENSG00000164631)

Protein

Protein identifiers

Zinc finger protein OZF — Q15072 (reviewed: Q15072)

Alternative names: Only zinc finger protein, Zinc finger protein 146

All UniProt accessions (1): Q15072

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Binds DNA. Interacts with SUMO conjugating enzyme UBC9/UBE2I. Interacts with the telomeric protein TERF2IP.

Subcellular location. Nucleus.

Tissue specificity. Liver, skeletal and heart muscle, mammary cells. Very low levels in brain, lung, placenta and kidney. Strongly overexpressed in many pancreas and colorectal cancers. Increased gene copy numbers are detected in 3 of 12 tumor cell lines and 2 of 12 primary pancreatic carcinomas. Overexpressed in 80% of colorectal cancers.

Post-translational modifications. Sumoylated.

Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.

RefSeq proteins (3): NP_001093108, NP_001093109, NP_009076* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily

Pfam: PF00096

UniProt features (21 total): zinc finger region 10, cross-link 6, mutagenesis site 2, chain 1, region of interest 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q15072-F1	90.52	0.71

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 (6): 28, 51, 56, 157, 169, 173

Mutagenesis-validated functional residues (2):

Position	Phenotype
157	induces a decrease in sumoylation. induces a strong decrease but does not abolish sumoylation; when associated with r-16
169	induces a decrease in sumoylation. induces a strong decrease but does not abolish sumoylation; when associated with r-15

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 146 (showing top): RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, OUELLET_OVARIAN_CANCER_INVASIVE_VS_LMP_UP, MODULE_331, ACATTCC_MIR1_MIR206, GENTILE_UV_HIGH_DOSE_DN, GOMF_GLYCOSAMINOGLYCAN_BINDING, DODD_NASOPHARYNGEAL_CARCINOMA_UP, MORF_SP3, MODULE_98, FISCHER_DREAM_TARGETS, DOUGLAS_BMI1_TARGETS_UP, GENTILE_UV_RESPONSE_CLUSTER_D6, DANG_BOUND_BY_MYC, GOMF_HEPARIN_BINDING

GO Biological Process (2): regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357)

GO Molecular Function (7): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA binding (GO:0003677), heparin binding (GO:0008201), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (4): nucleus (GO:0005634), nucleolus (GO:0005730), cytosol (GO:0005829), nuclear lumen (GO:0031981)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
regulation of transcription by RNA polymerase II	1
nucleic acid binding	1
glycosaminoglycan binding	1
sulfur compound binding	1
transition metal ion binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular membraneless organelle	1
cytoplasm	1
cellular anatomical structure	1
nucleus	1
intracellular organelle lumen	1

Protein interactions and networks

STRING

980 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF146	B4GALNT1	Q00973	437
ZNF146	FAM114A2	Q9NRY5	369
ZNF146	GATA4	P43694	351
ZNF146	MFSD6	Q6ZSS7	348
ZNF146	NPPA	P01160	328
ZNF146	KLHL8	Q9P2G9	318
ZNF146	EDN1	P05305	314
ZNF146	SLC35A4	Q96G79	314
ZNF146	GPR22	Q99680	311
ZNF146	GALNT1	Q10472	285
ZNF146	SLC25A36	Q96CQ1	273
ZNF146	CEP89	Q96ST8	271
ZNF146	ARHGEF16	Q5VV41	271
ZNF146	ANKRD13D	Q6ZTN6	266
ZNF146	NEK3	P51956	265

IntAct

77 interactions, top by confidence:

A	B	Type	Score
YWHAB	PIK3C2A	psi-mi:“MI:0914”(association)	0.800
SUCLG2	SUCLG1	psi-mi:“MI:0914”(association)	0.690
YWHAG	BLTP3B	psi-mi:“MI:0914”(association)	0.640
YWHAE	PIK3C2A	psi-mi:“MI:0914”(association)	0.570
YWHAH	BLTP3B	psi-mi:“MI:0914”(association)	0.570
YWHAZ	PIK3C2A	psi-mi:“MI:0914”(association)	0.570
CIB3	ZNF146	psi-mi:“MI:0915”(physical association)	0.560
ZNF146	CIB3	psi-mi:“MI:0915”(physical association)	0.560
TOR1AIP2	TMEM223	psi-mi:“MI:0914”(association)	0.530
VWCE	ZNF316	psi-mi:“MI:0914”(association)	0.530
SCN3B	ABCC5	psi-mi:“MI:0914”(association)	0.530
L3MBTL1	DNAJB6	psi-mi:“MI:0914”(association)	0.530
MMP26	SLC25A20	psi-mi:“MI:0914”(association)	0.530
EMILIN1	METTL15	psi-mi:“MI:0914”(association)	0.530
TUBA1A	TUBAL3	psi-mi:“MI:0914”(association)	0.420
H3C1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.410
ZNF146		psi-mi:“MI:0915”(physical association)	0.370
MAD2L2		psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
SUCLA2	GTPBP10	psi-mi:“MI:0914”(association)	0.350
MMP26	NME4	psi-mi:“MI:0914”(association)	0.350
ARMC6	SLC27A2	psi-mi:“MI:0914”(association)	0.350
PMEL	MAN1A2	psi-mi:“MI:0914”(association)	0.350
ZPBP2	PROS1	psi-mi:“MI:0914”(association)	0.350

BioGRID (110): ZNF146 (Affinity Capture-MS), ZNF146 (Affinity Capture-MS), ZNF146 (Affinity Capture-MS), ZNF146 (Affinity Capture-MS), ZNF146 (Affinity Capture-MS), ZNF146 (Affinity Capture-MS), ZNF146 (Affinity Capture-MS), ZNF146 (Affinity Capture-MS), ZNF146 (Affinity Capture-MS), ZNF146 (Affinity Capture-MS), ZNF146 (Affinity Capture-MS), ZNF146 (Affinity Capture-MS), ZNF146 (Affinity Capture-MS), ZNF146 (Affinity Capture-MS), ZNF146 (Affinity Capture-MS)

ESM2 similar proteins: O73694, P18712, P18717, P18719, P18720, P18721, P18722, P18724, P18727, P18730, P18731, P18732, P18734, P18735, P18738, P18740, P18741, P18742, P18743, P18744, P18750, P24399, P26634, P26635, P31507, P31508, P31509, Q01779, Q01792, Q01793, Q01797, Q01799, Q01800, Q01871, Q01872, Q02025, Q02026, Q02027, Q02034, Q02035

Diamond homologs: A0A9P4XV22, A1L1L7, A1YEQ3, A1YFW6, A2T6W2, B2KFW1, P08045, P17097, P18713, P18715, P18720, P18725, P18726, P18735, P18736, P18737, P18738, P18741, P18742, P18743, P18753, P18853, P21506, P51815, Q15072, Q28151, Q3KP31, Q5RBX0, Q5RBY9, Q5RFP4, Q6A085, Q6P1L6, Q6P9G9, Q7TNU6, Q8BGV5, Q8CF60, Q8R1D1, Q8WTR7, Q9BSG1, Q9UEG4

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 111 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
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	61.9×	5e-09
Activation of BAD and translocation to mitochondria	6	60.1×	7e-08
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	6	53.0×	1e-07
Activation of BH3-only proteins	6	39.2×	6e-07
RHO GTPases activate PKNs	6	25.0×	1e-05
Intrinsic Pathway for Apoptosis	6	23.1×	1e-05
Translocation of SLC2A4 (GLUT4) to the plasma membrane	9	18.3×	1e-07
Transcriptional and post-translational regulation of MITF-M expression and activity	7	16.4×	1e-05

GO biological processes:

GO term	Partners	Fold	FDR
peptidyl-tyrosine phosphorylation	5	20.4×	3e-03
protein targeting	5	17.8×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	10
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

729 predictions. Top by Δscore:

Variant	Effect	Δscore
19:36214616:CCTCA:C	donor_loss	0.9900
19:36214617:CTCA:C	donor_loss	0.9900
19:36214618:TCAC:T	donor_loss	0.9900
19:36214619:CA:C	donor_loss	0.9900
19:36214621:C:G	donor_loss	0.9900
19:36214621:CCTT:C	donor_gain	0.9900
19:36214632:C:A	donor_gain	0.9900
19:36214913:G:GT	donor_gain	0.9900
19:36218114:A:G	acceptor_gain	0.9900
19:36228746:A:AG	acceptor_gain	0.9900
19:36228747:G:GG	acceptor_gain	0.9900
19:36228747:GTTA:G	acceptor_gain	0.9900
19:36215160:G:GG	donor_gain	0.9800
19:36215190:G:GG	donor_gain	0.9800
19:36215194:G:GT	donor_gain	0.9800
19:36218113:A:AG	acceptor_gain	0.9800
19:36228747:GTT:G	acceptor_gain	0.9800
19:36215152:GCGG:G	donor_gain	0.9700
19:36215187:A:T	donor_gain	0.9700
19:36214608:CCCAG:C	donor_gain	0.9600
19:36214878:GAC:G	donor_gain	0.9600
19:36229079:G:GA	donor_gain	0.9600
19:36232498:G:GT	donor_gain	0.9600
19:36214608:C:CA	donor_gain	0.9500
19:36229082:G:GA	donor_gain	0.9500
19:36214620:A:AC	donor_gain	0.9400
19:36214621:C:CC	donor_gain	0.9400
19:36215154:GG:G	donor_gain	0.9400
19:36215155:GG:G	donor_gain	0.9400
19:36228747:GTTAA:G	acceptor_gain	0.9400

AlphaMissense

1965 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:36237101:T:C	F221L	0.995
19:36237103:C:A	F221L	0.995
19:36237103:C:G	F221L	0.995
19:36237185:T:C	F249L	0.995
19:36237187:C:A	F249L	0.995
19:36237187:C:G	F249L	0.995
19:36237017:T:C	F193L	0.994
19:36237019:C:A	F193L	0.994
19:36237019:C:G	F193L	0.994
19:36236765:T:C	F109L	0.993
19:36236767:C:A	F109L	0.993
19:36236767:C:G	F109L	0.993
19:36236849:T:C	F137L	0.993
19:36236851:C:A	F137L	0.993
19:36236851:C:G	F137L	0.993
19:36236784:T:C	L115P	0.991
19:36236933:T:C	F165L	0.991
19:36236935:T:A	F165L	0.991
19:36236935:T:G	F165L	0.991
19:36236681:T:C	F81L	0.988
19:36236683:T:A	F81L	0.988
19:36236683:T:G	F81L	0.988
19:36236868:T:C	L143P	0.988
19:36237269:T:C	F277L	0.988
19:36237271:C:A	F277L	0.988
19:36237271:C:G	F277L	0.988
19:36236796:A:C	Q119P	0.987
19:36237046:T:A	H202Q	0.984
19:36237046:T:G	H202Q	0.984
19:36236794:C:A	H118Q	0.983

dbSNP variants (sampled 300 via entrez): RS1000053811 (19:36213760 G>A), RS1000108253 (19:36237342 G>A), RS1000224228 (19:36224305 T>A), RS1000247245 (19:36229971 C>T), RS1000251289 (19:36230943 A>G), RS1000395278 (19:36218953 C>T), RS1000411385 (19:36224682 G>C), RS1000454347 (19:36230651 G>A), RS1000519827 (19:36223630 T>C), RS1000526049 (19:36213235 G>A), RS1000576319 (19:36228571 CAT>C), RS1000576997 (19:36212953 G>A), RS1000587007 (19:36231202 A>G), RS1000722083 (19:36213531 A>C,G,T), RS1000757941 (19:36235234 T>TGAA)

Disease associations

OMIM: gene MIM:601505 | 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
GCST004136_14	Methadone dose in opioid dependence	6.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007907	methadone dose measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, affects cotreatment, increases methylation	2
sodium arsenite	decreases expression	2
Phenylmercuric Acetate	decreases expression, affects cotreatment	2
Valproic Acid	affects expression, decreases expression	2
aristolochic acid I	decreases expression	1
TAK-243	increases sumoylation	1
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
kojic acid	decreases expression	1
trichostatin A	affects expression	1
beta-lapachone	increases expression	1
nickel sulfate	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	increases reaction, affects binding	1
perfluoro-n-nonanoic acid	increases expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	decreases expression	1
Zoledronic Acid	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Air Pollutants, Occupational	decreases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	increases expression	1
Coal	decreases expression, increases abundance	1
Succimer	affects cotreatment, increases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_HD10	HEK293 eGFP-ZNF146	Transformed cell line	Female

Clinical trials (associated diseases)

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