ZNF133

Summary

ZNF133 (zinc finger protein 133, HGNC:12917) is a protein-coding gene on chromosome 20p11.23, encoding Zinc finger protein 133 (P52736). May be involved in transcriptional regulation as a repressor.

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Predicted to be active in nucleus.

Source: NCBI Gene 7692 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 76 total
• MANE Select transcript: NM_001352452

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12917
Approved symbol	ZNF133
Name	zinc finger protein 133
Location	20p11.23
Locus type	gene with protein product
Status	Approved
Aliases	pHZ-13, pHZ-66
Ensembl gene	ENSG00000125846
Ensembl biotype	protein_coding
OMIM	604075
Entrez	7692

Gene structure

Transcript identifiers

Ensembl transcripts: 81 — 75 protein_coding, 5 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000316358, ENST00000360010, ENST00000377671, ENST00000396026, ENST00000401790, ENST00000402618, ENST00000425686, ENST00000434018, ENST00000462170, ENST00000535822, ENST00000622607, ENST00000626025, ENST00000628216, ENST00000630056, ENST00000698696, ENST00000698697, ENST00000698698, ENST00000698699, ENST00000698700, ENST00000698704, ENST00000698705, ENST00000854065, ENST00000854066, ENST00000854067, ENST00000854068, ENST00000854069, ENST00000854070, ENST00000854071, ENST00000854072, ENST00000854073, ENST00000854074, ENST00000854075, ENST00000854076, ENST00000854077, ENST00000854078, ENST00000854079, ENST00000854080, ENST00000854081, ENST00000854082, ENST00000854083, ENST00000854084, ENST00000854085, ENST00000854086, ENST00000854087, ENST00000854088, ENST00000854089, ENST00000854090, ENST00000854091, ENST00000854092, ENST00000854093, ENST00000854094, ENST00000854095, ENST00000854096, ENST00000854097, ENST00000854098, ENST00000854099, ENST00000854100, ENST00000854101, ENST00000854102, ENST00000854103, ENST00000854104, ENST00000854105, ENST00000940169, ENST00000940170, ENST00000940171, ENST00000940172, ENST00000963487, ENST00000963488, ENST00000963489, ENST00000963490, ENST00000963491, ENST00000963492, ENST00000963493, ENST00000963494, ENST00000963495, ENST00000963496, ENST00000963497, ENST00000963498, ENST00000963499, ENST00000963500, ENST00000963501

RefSeq mRNA: 58 — MANE Select: NM_001352452 NM_001083330, NM_001282995, NM_001282996, NM_001282997, NM_001282998, NM_001282999, NM_001283000, NM_001283001, NM_001283002, NM_001283003, NM_001283004, NM_001283005, NM_001283006, NM_001283007, NM_001283008, NM_001352450, NM_001352451, NM_001352452, NM_001352453, NM_001352454, NM_001352455, NM_001352456, NM_001352457, NM_001352458, NM_001352459, NM_001352460, NM_001352461, NM_001352462, NM_001352463, NM_001352464, NM_001387295, NM_001387296, NM_001387297, NM_001387298, NM_001387299, NM_001387300, NM_001387301, NM_001387302, NM_001387303, NM_001387304, NM_001387305, NM_001387306, NM_001387307, NM_001387308, NM_001387309, NM_001387310, NM_001387311, NM_001387312, NM_001387313, NM_001387314, NM_001387315, NM_001387316, NM_001387317, NM_001387318, NM_001387319, NM_001387320, NM_001387321, NM_003434

CCDS: CCDS13134, CCDS63233, CCDS63234, CCDS74703

Canonical transcript exons

ENST00000425686 — 7 exons

Exon	Start	End
ENSE00001126575	18305008	18305178
ENSE00001126582	18298289	18298464
ENSE00003552952	18315069	18316996
ENSE00003681467	18306298	18306393
ENSE00003747831	18297985	18298062
ENSE00003750168	18305681	18305807
ENSE00003920151	18288527	18288604

Expression profiles

Bgee: expression breadth ubiquitous, 273 present calls, max score 89.57.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.6287 / max 71.7681, expressed in 1734 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
183683	7.6287	1734

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cerebellar hemisphere	UBERON:0002245	89.57	gold quality
right hemisphere of cerebellum	UBERON:0014890	89.46	gold quality
cerebellar cortex	UBERON:0002129	89.41	gold quality
parotid gland	UBERON:0001831	88.91	gold quality
lower esophagus mucosa	UBERON:0035834	88.83	gold quality
cerebellum	UBERON:0002037	87.72	gold quality
adenohypophysis	UBERON:0002196	86.82	gold quality
pancreatic ductal cell	CL:0002079	86.75	gold quality
apex of heart	UBERON:0002098	86.65	gold quality
pituitary gland	UBERON:0000007	86.38	gold quality
right lobe of thyroid gland	UBERON:0001119	86.10	gold quality
left lobe of thyroid gland	UBERON:0001120	85.65	gold quality
cortical plate	UBERON:0005343	85.63	gold quality
right frontal lobe	UBERON:0002810	85.51	gold quality
ganglionic eminence	UBERON:0004023	85.25	gold quality
skin of abdomen	UBERON:0001416	85.06	gold quality
muscle layer of sigmoid colon	UBERON:0035805	84.96	gold quality
skin of leg	UBERON:0001511	84.92	gold quality
right ovary	UBERON:0002118	84.87	gold quality
body of pancreas	UBERON:0001150	84.86	gold quality
thyroid gland	UBERON:0002046	84.77	gold quality
left ovary	UBERON:0002119	84.70	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	84.58	gold quality
lower esophagus	UBERON:0013473	84.57	gold quality
lower esophagus muscularis layer	UBERON:0035833	84.56	gold quality
endocervix	UBERON:0000458	84.45	gold quality
ventricular zone	UBERON:0003053	84.44	gold quality
metanephros cortex	UBERON:0010533	84.43	gold quality
body of uterus	UBERON:0009853	84.30	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.18	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.32

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

38 targeting ZNF133, 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-4531	99.99	69.70	3181
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488
HSA-MIR-548I	99.94	71.25	3481
HSA-MIR-548J-5P	99.94	71.14	3489
HSA-MIR-548O-5P	99.94	71.24	3488
HSA-MIR-548W	99.94	71.24	3488
HSA-MIR-548Y	99.94	71.28	3514
HSA-MIR-132-3P	99.73	70.56	1424
HSA-MIR-212-3P	99.73	70.65	1424
HSA-MIR-4802-3P	99.72	70.13	1273
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-3171	99.49	69.06	776
HSA-MIR-4480	99.42	66.02	735

Literature-anchored findings (GeneRIF, showing 4)

• response to alcohol may be expressed by one of these candidate genes, zinc finger 133 (Znf133 (PMID:14578011)
• the transcriptional repressor activity of ZNF133 is regulated by both the KRAB domain and the zinc finger motifs, and that the repressive effect by zinc finger motifs is mediated by PIAS1 (PMID:17934332)
• ZNF133 SNPs are associated with infliximab responsiveness in patients crohn’s disease and ulcerative colitis. (PMID:30851117)
• ZNF133 is a potent suppressor in breast carcinogenesis through dampening L1CAM, a driver for tumor progression. (PMID:37221223)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
rattus_norvegicus	Zfp133	ENSRNOG00000027955
drosophila_melanogaster	CG2712	FBGN0024975
drosophila_melanogaster	Phs	FBGN0036522
drosophila_melanogaster	CG3281	FBGN0260741

Paralogs (62): ZNF582 (ENSG00000018869), ZNF264 (ENSG00000083844), ZNF343 (ENSG00000088876), ZNF684 (ENSG00000117010), ZNF557 (ENSG00000130544), ZNF337 (ENSG00000130684), ZNF20 (ENSG00000132010), ZFP37 (ENSG00000136866), ZNF614 (ENSG00000142556), KRBOX4 (ENSG00000147121), ZNF599 (ENSG00000153896), ZNF19 (ENSG00000157429), ZNF589 (ENSG00000164048), PRDM9 (ENSG00000164256), ZNF180 (ENSG00000167384), ZNF558 (ENSG00000167785), ZNF35 (ENSG00000169981), ZNF778 (ENSG00000170100), ZNF439 (ENSG00000171291), ZNF440 (ENSG00000171295), ZNF556 (ENSG00000172000), ZNF554 (ENSG00000172006), ZNF596 (ENSG00000172748), ZNF80 (ENSG00000174255), ZNF266 (ENSG00000174652), ZNF25 (ENSG00000175395), ZNF77 (ENSG00000175691), ZNF169 (ENSG00000175787), ZNF404 (ENSG00000176222), ZNF491 (ENSG00000177599), ZNF620 (ENSG00000177842), ZNF619 (ENSG00000177873), ZNF875 (ENSG00000181666), ZNF329 (ENSG00000181894), ZFP90 (ENSG00000184939), ZNF566 (ENSG00000186017), ZNF529 (ENSG00000186020), ZNF749 (ENSG00000186230), ZNF555 (ENSG00000186300), ZNF70 (ENSG00000187792)

Protein

Protein identifiers

Zinc finger protein 133 — P52736 (reviewed: P52736)

Alternative names: Zinc finger protein 150

All UniProt accessions (9): P52736, A0A0A0MTH2, A0A0D9SEV2, A0A8V8TM26, A0A8V8TM58, A0A8V8TNK8, Q5JXV9, Q5JXW0, Q5JXW1

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in transcriptional regulation as a repressor.

Subcellular location. Nucleus.

Tissue specificity. Seems ubiquitous. Seen in the heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.

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

Isoforms (5)

UniProt ID	Names	Canonical?
P52736-1	1	yes
P52736-2	2
P52736-3	3
P52736-4	4
P52736-5	5

RefSeq proteins (58): NP_001076799, NP_001269924, NP_001269925, NP_001269926, NP_001269927, NP_001269928, NP_001269929, NP_001269930, NP_001269931, NP_001269932, NP_001269933, NP_001269934, NP_001269935, NP_001269936, NP_001269937, NP_001339379, NP_001339380, NP_001339381, NP_001339382, NP_001339383, NP_001339384, NP_001339385, NP_001339386, NP_001339387, NP_001339388, NP_001339389, NP_001339390, NP_001339391, NP_001339392, NP_001339393, NP_001374224, NP_001374225, NP_001374226, NP_001374227, NP_001374228, NP_001374229, NP_001374230, NP_001374231, NP_001374232, NP_001374233, NP_001374234, NP_001374235, NP_001374236, NP_001374237, NP_001374238, NP_001374239, NP_001374240, NP_001374241, NP_001374242, NP_001374243, NP_001374244, NP_001374245, NP_001374246, NP_001374247, NP_001374248, NP_001374249, NP_001374250, NP_003425 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001909	KRAB	Domain
IPR013087	Znf_C2H2_type	Domain
IPR036051	KRAB_dom_sf	Homologous_superfamily
IPR036236	Znf_C2H2_sf	Homologous_superfamily

Pfam: PF00096, PF01352

UniProt features (34 total): zinc finger region 15, cross-link 6, splice variant 4, region of interest 2, sequence variant 2, sequence conflict 2, chain 1, domain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P52736-F1	73.98	0.37

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): 310, 338, 506, 576, 604, 618

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway

MSigDB gene sets: 105 (showing top): MORF_MSH3, GCM_GSPT1, MORF_BRCA1, MORF_ATRX, MORF_ESR1, CAGCTG_AP4_Q5, MORF_RAD51L3, BLALOCK_ALZHEIMERS_DISEASE_UP, GCM_SUFU, MODULE_98, GCM_NF2, MORF_PPP2R5B, OSMAN_BLADDER_CANCER_DN, GINESTIER_BREAST_CANCER_ZNF217_AMPLIFIED_DN, ZIRN_TRETINOIN_RESPONSE_WT1_UP

GO Biological Process (4): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of transcription by RNA polymerase II (GO:0006357), regulation of DNA-templated transcription (GO:0006355), negative regulation of DNA-templated transcription (GO:0045892)

GO Molecular Function (7): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (1): nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
RNA Polymerase II Transcription	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	3
regulation of transcription by RNA polymerase II	2
transcription by RNA polymerase II	2
DNA-templated transcription	2
transcription cis-regulatory region binding	2
negative regulation of DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
negative regulation of RNA biosynthetic process	1
chromatin	1
RNA polymerase II transcription regulatory region sequence-specific DNA binding	1
DNA-binding transcription factor activity	1
transcription regulator activity	1
transition metal ion binding	1
nucleic acid binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

844 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF133	RBBP9	O75884	621
ZNF133	LGALS4	P56470	559
ZNF133	MAP10	Q9P2G4	532
ZNF133	DZANK1	Q9NVP4	502
ZNF133	POLR3F	Q9H1D9	496
ZNF133	SLC24A3	Q9HC58	494
ZNF133	PIAS1	O75925	429
ZNF133	TRIM28	Q13263	416
ZNF133	ZCWPW2	Q504Y3	367
ZNF133	TEDC1	Q86SX3	324
ZNF133	ZNF212	Q9UDV6	319
ZNF133	ONECUT3	O60422	308
ZNF133	K7EJK4	K7EJK4	305
ZNF133	SMIM26	A0A096LP01	300
ZNF133	FAM110A	Q9BQ89	297

IntAct

20 interactions, top by confidence:

A	B	Type	Score
KRTAP10-7	ZNF133	psi-mi:“MI:0915”(physical association)	0.560
ZNF133	KRTAP10-7	psi-mi:“MI:0915”(physical association)	0.560
FOS	ZNF133	psi-mi:“MI:0915”(physical association)	0.520
ZNF133	FOS	psi-mi:“MI:0915”(physical association)	0.520
ZNF133	TRIM28	psi-mi:“MI:0915”(physical association)	0.400
ZNF133	ILK	psi-mi:“MI:0915”(physical association)	0.370
ZNF133	MAPK6	psi-mi:“MI:0915”(physical association)	0.370
PDPK1	ZNF133	psi-mi:“MI:0915”(physical association)	0.370
HTT	ZNF133	psi-mi:“MI:0915”(physical association)	0.370
ZNF133	TRIM24	psi-mi:“MI:0914”(association)	0.350
ZNF133	SH2D4A	psi-mi:“MI:0914”(association)	0.350
EPHA1	ZNF133	psi-mi:“MI:0915”(physical association)	0.000
APP	ZNF133	psi-mi:“MI:0915”(physical association)	0.000
ZNF133	MDM2	psi-mi:“MI:0915”(physical association)	0.000
ZNF133	FOS	psi-mi:“MI:0915”(physical association)	0.000
TIAM1	ZNF133	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (38): KRTAP10-7 (Two-hybrid), MRS2 (Affinity Capture-MS), RPS27A (Affinity Capture-MS), SAV1 (Affinity Capture-MS), STK3 (Affinity Capture-MS), TRIM24 (Affinity Capture-MS), MRPS7 (Affinity Capture-MS), STK4 (Affinity Capture-MS), DAP3 (Affinity Capture-MS), CLPP (Affinity Capture-MS), MRPS2 (Affinity Capture-MS), FTL (Affinity Capture-MS), MRPS23 (Affinity Capture-MS), TPD52 (Affinity Capture-MS), ZNF133 (Affinity Capture-RNA)

ESM2 similar proteins: A0JNB1, A1YF12, A1YG88, A2T759, A3KN32, B2RUI1, O43296, O75123, P10072, P17020, P17097, P51814, P52736, P52740, Q07230, Q08ER8, Q13398, Q14590, Q32KN0, Q3KQV3, Q3MIS6, Q4V8A8, Q5CZA5, Q5RBQ3, Q5RBX0, Q5RCD9, Q5RCX4, Q6GQR8, Q6NX45, Q6P9A3, Q6PK81, Q7TSH9, Q7TSI0, Q7Z7L9, Q86UD4, Q8BFS8, Q8BLB0, Q8IVP9, Q8IZ26, Q8N9F8

Diamond homologs: A0A1D5NS60, P52736, Q13105, Q60821, Q90625, A0A1W2PQL4, A6NK75, A6NN14, A6NNF4, A6NP11, A8MQ14, A8MTY0, A8MUV8, A8MXY4, B4DX44, B4DXR9, E9PYI1, O14628, O43345, O75290, O75346, O75373, O75437, O95780, P0CB33, P0DKX0, P0DPD5, P16373, P17019, P17038, P21506, P35789, P52738, P52744, Q03923, Q03924, Q03936, Q03938, Q05481, Q14586

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	67
Likely benign	4
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

1328 predictions. Top by Δscore:

Variant	Effect	Δscore
20:18306289:T:A	acceptor_gain	1.0000
20:18315067:A:AG	acceptor_gain	1.0000
20:18315068:G:GG	acceptor_gain	1.0000
20:18315068:GCA:G	acceptor_gain	1.0000
20:18288662:G:GT	donor_gain	0.9900
20:18305806:GG:G	donor_gain	0.9900
20:18305807:GG:G	donor_gain	0.9900
20:18306291:T:TA	acceptor_gain	0.9900
20:18306297:GGA:G	acceptor_gain	0.9900
20:18306608:G:GT	donor_gain	0.9900
20:18315063:CTGCA:C	acceptor_loss	0.9900
20:18315064:TGCA:T	acceptor_loss	0.9900
20:18315066:CAG:C	acceptor_loss	0.9900
20:18315067:A:AC	acceptor_loss	0.9900
20:18315068:GC:G	acceptor_gain	0.9900
20:18288601:GCTG:G	donor_gain	0.9800
20:18288605:G:GC	donor_loss	0.9800
20:18288606:T:TC	donor_loss	0.9800
20:18288607:G:GG	donor_loss	0.9800
20:18288663:A:T	donor_gain	0.9800
20:18305804:CTGGG:C	donor_loss	0.9800
20:18305807:GGTAA:G	donor_loss	0.9800
20:18305808:G:GC	donor_loss	0.9800
20:18305809:T:TC	donor_loss	0.9800
20:18306295:CAGGA:C	acceptor_loss	0.9800
20:18315068:GCAGA:G	acceptor_gain	0.9800
20:18288605:G:GG	donor_gain	0.9700
20:18288608:A:AC	donor_loss	0.9700
20:18295466:T:G	donor_gain	0.9700
20:18305808:G:GG	donor_gain	0.9700

AlphaMissense

1165 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:18305715:T:C	F10S	0.989
20:18305796:T:C	L37P	0.988
20:18305714:T:C	F10L	0.981
20:18305716:C:A	F10L	0.981
20:18305716:C:G	F10L	0.981
20:18305762:T:G	Y26D	0.975
20:18305705:G:C	A7P	0.974
20:18305693:T:C	F3L	0.973
20:18305695:C:A	F3L	0.973
20:18305695:C:G	F3L	0.973
20:18305694:T:C	F3S	0.970
20:18305729:T:A	W15R	0.967
20:18305729:T:C	W15R	0.967
20:18305739:T:C	L18P	0.965
20:18306334:T:C	L53P	0.965
20:18305776:G:A	M30I	0.957
20:18305776:G:C	M30I	0.957
20:18305776:G:T	M30I	0.957
20:18305694:T:G	F3C	0.956
20:18305715:T:G	F10C	0.956
20:18305731:G:C	W15C	0.952
20:18305731:G:T	W15C	0.952
20:18305785:C:A	N33K	0.952
20:18305785:C:G	N33K	0.952
20:18305778:T:C	L31P	0.951
20:18305775:T:G	M30R	0.949
20:18305786:T:G	Y34D	0.949
20:18305775:T:A	M30K	0.945
20:18305706:C:A	A7D	0.935
20:18305775:T:C	M30T	0.933

dbSNP variants (sampled 300 via entrez): RS1000038595 (20:18293056 C>T), RS1000154269 (20:18292814 G>A), RS1000163065 (20:18314460 T>G), RS1000175399 (20:18305917 A>G,T), RS1000251502 (20:18299760 C>G), RS1000293319 (20:18307248 C>T), RS1000767324 (20:18291568 C>T), RS1000818382 (20:18291729 T>C), RS1001045692 (20:18294604 A>G), RS1001070180 (20:18298538 G>A), RS1001158175 (20:18294311 C>T), RS1001389695 (20:18301036 G>A), RS1001560447 (20:18298208 C>G,T), RS1001562065 (20:18299231 T>C), RS1001614898 (20:18292117 T>C)

Disease associations

OMIM: gene MIM:604075 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST004904_207	Body mass index	2.000000e-09
GCST004904_7	Body mass index	3.000000e-09
GCST008129_33	Body mass index	6.000000e-14
GCST012490_354	Femur bone mineral density x serum urate levels interaction	5.000000e-13

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0004531	urate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
arsenite	decreases reaction, increases methylation, affects binding	2
TAK-243	increases sumoylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
sodium arsenite	decreases expression	1
aflatoxin B2	decreases methylation	1
nickel sulfate	decreases expression	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
pentabromodiphenyl ether	increases expression	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	increases expression	1
Sunitinib	increases expression	1
Leflunomide	increases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	decreases methylation	1
Hydrogen Peroxide	affects expression	1
Phenobarbital	affects expression	1
Urethane	decreases expression	1
Valproic Acid	affects expression	1
Cyclosporine	increases expression	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	decreases expression	1
Copper Sulfate	decreases expression	1
Vitamin K 3	affects expression	1

Cellosaurus cell lines

2 cell lines: 1 cancer cell line, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E0V8	Ubigene Hep G2 ZNF133 KO	Cancer cell line	Male
CVCL_XW06	HEK293 eGFP-ZNF133	Transformed cell line	Female

Clinical trials (associated diseases)

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