ZNF76

Summary

ZNF76 (zinc finger protein 76, HGNC:13149) is a protein-coding gene on chromosome 6p21.31, encoding Zinc finger protein 76 (P36508). Transcription factor that regulates expression of genes transcribed by both RNA polymerases II and III.

Enables DNA-binding transcription activator activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Predicted to be active in nucleus.

Source: NCBI Gene 7629 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 101 total
• MANE Select transcript: NM_003427

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13149
Approved symbol	ZNF76
Name	zinc finger protein 76
Location	6p21.31
Locus type	gene with protein product
Status	Approved
Aliases	Zfp523, ZNF523
Ensembl gene	ENSG00000065029
Ensembl biotype	protein_coding
OMIM	194549
Entrez	7629

Gene structure

Transcript identifiers

Ensembl transcripts: 50 — 43 protein_coding, 5 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000229405, ENST00000339411, ENST00000373953, ENST00000460229, ENST00000469195, ENST00000479226, ENST00000482946, ENST00000484932, ENST00000486891, ENST00000491400, ENST00000498555, ENST00000905434, ENST00000905435, ENST00000905436, ENST00000905437, ENST00000905438, ENST00000905439, ENST00000905440, ENST00000905441, ENST00000905442, ENST00000905443, ENST00000905444, ENST00000905445, ENST00000905446, ENST00000905447, ENST00000905448, ENST00000905449, ENST00000905450, ENST00000905451, ENST00000905452, ENST00000905453, ENST00000905454, ENST00000905455, ENST00000905456, ENST00000905457, ENST00000905458, ENST00000905459, ENST00000905460, ENST00000934067, ENST00000934068, ENST00000934069, ENST00000944829, ENST00000944830, ENST00000944831, ENST00000944832, ENST00000944833, ENST00000944834, ENST00000944835, ENST00000944836, ENST00000944837

RefSeq mRNA: 2 — MANE Select: NM_003427 NM_001292032, NM_003427

CCDS: CCDS4801, CCDS75435

Canonical transcript exons

ENST00000373953 — 14 exons

Exon	Start	End
ENSE00000746929	35292554	35292787
ENSE00001032099	35295144	35295985
ENSE00001032100	35259735	35259841
ENSE00002241574	35294456	35294569
ENSE00003528242	35281056	35281224
ENSE00003564093	35293751	35293915
ENSE00003575750	35286128	35286208
ENSE00003587561	35290641	35290716
ENSE00003622526	35292881	35293044
ENSE00003623301	35287646	35287845
ENSE00003623960	35291278	35291403
ENSE00003638908	35291558	35291737
ENSE00003652775	35290266	35290382
ENSE00003685828	35286322	35286399

Expression profiles

Bgee: expression breadth ubiquitous, 259 present calls, max score 97.04.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.2703 / max 108.5483, expressed in 1786 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
67420	5.8260	1698
67419	3.4205	1320
67418	0.6691	333
203974	0.3548	161

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of thyroid gland	UBERON:0001119	97.04	gold quality
left lobe of thyroid gland	UBERON:0001120	96.71	gold quality
adenohypophysis	UBERON:0002196	96.42	gold quality
apex of heart	UBERON:0002098	96.41	gold quality
right adrenal gland cortex	UBERON:0035827	95.85	gold quality
pituitary gland	UBERON:0000007	95.69	gold quality
left ovary	UBERON:0002119	95.65	gold quality
thyroid gland	UBERON:0002046	95.64	gold quality
right adrenal gland	UBERON:0001233	95.56	gold quality
right uterine tube	UBERON:0001302	95.55	gold quality
right ovary	UBERON:0002118	95.47	gold quality
left adrenal gland cortex	UBERON:0035825	95.13	gold quality
right hemisphere of cerebellum	UBERON:0014890	95.08	gold quality
metanephros cortex	UBERON:0010533	94.96	gold quality
left adrenal gland	UBERON:0001234	94.90	gold quality
cerebellar hemisphere	UBERON:0002245	94.44	gold quality
adrenal cortex	UBERON:0001235	94.43	gold quality
cerebellar cortex	UBERON:0002129	94.34	gold quality
granulocyte	CL:0000094	93.95	gold quality
mucosa of stomach	UBERON:0001199	93.86	gold quality
lower esophagus muscularis layer	UBERON:0035833	93.86	gold quality
lower esophagus	UBERON:0013473	93.84	gold quality
hindlimb stylopod muscle	UBERON:0004252	93.78	gold quality
endocervix	UBERON:0000458	93.76	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	93.64	gold quality
body of uterus	UBERON:0009853	93.46	gold quality
small intestine Peyer’s patch	UBERON:0003454	93.44	gold quality
minor salivary gland	UBERON:0001830	93.38	gold quality
spleen	UBERON:0002106	93.36	gold quality
left testis	UBERON:0004533	93.30	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.38

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

7 targets.

Target	Regulation
CDKN1A	Repression
PCYT1A	Activation
TALDO1	Unknown
TBP	Repression
TCP1	Activation
TCP11	Unknown
ZNF143

JASPAR motifs

Motif	Name	Family
MA1716.1	ZNF76	More than 3 adjacent zinc fingers
MA1716.2	ZNF76	More than 3 adjacent zinc fingers

JASPAR matrix evidence (PMIDs): PMID:28473536

miRNA regulators (miRDB)

35 targeting ZNF76, 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-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-449C-5P	99.78	67.63	1168
HSA-MIR-34B-5P	99.78	67.56	1175
HSA-MIR-6751-5P	99.56	64.99	1145
HSA-MIR-766-3P	99.47	65.24	1811
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-6165	99.44	67.12	1389
HSA-MIR-4480	99.42	66.02	735
HSA-MIR-4727-5P	99.23	67.55	1154
HSA-MIR-449B-3P	99.20	67.24	1047
HSA-MIR-544B	99.18	67.41	1632
HSA-MIR-7109-5P	99.18	66.13	1057
HSA-MIR-6799-5P	99.14	65.72	2093
HSA-MIR-7160-5P	99.11	67.17	2207
HSA-MIR-2355-5P	98.83	65.51	1589
HSA-MIR-4656	98.79	66.22	1306
HSA-MIR-210-5P	98.57	64.37	832
HSA-MIR-4266	98.53	67.29	1035
HSA-MIR-4691-3P	98.11	66.83	1204
HSA-MIR-4769-3P	97.95	68.17	1002
HSA-MIR-6817-5P	97.95	67.86	1026
HSA-MIR-4640-5P	97.42	66.33	1543

Literature-anchored findings (GeneRIF, showing 5)

• ZNF76 functions as a transcriptional repressor through its interaction with TBP and sumoylation modulates its transcriptional repression activity (PMID:15280358)
• Our study shows that ZNF76, a TBP-interacting transcriptional modulator, is regulated by both lysine modifications and alternative splicing. (PMID:16337145)
• The ZNF76 rs10947540 polymorphism associated with systemic lupus erythematosus risk in Chinese populations. (PMID:33664275)
• ZNF76 predicts prognosis and response to platinum chemotherapy in human ovarian cancer. (PMID:34793589)
• Biochemical study of ZNF76 rs10947540 and SCUBE3 rs1888822 single nucleotide polymorphisms in the Egyptian patients with systemic lupus Erythematosus. (PMID:38982741)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	znf76	ENSDARG00000013279
mus_musculus	Zfp523	ENSMUSG00000024220
rattus_norvegicus	Zfp523	ENSRNOG00000000501

Paralogs (36): ZBTB32 (ENSG00000011590), SNAI2 (ENSG00000019549), PRDM1 (ENSG00000057657), PRDM6 (ENSG00000061455), PATZ1 (ENSG00000100105), MAZ (ENSG00000103495), ZBTB16 (ENSG00000109906), ZNF451 (ENSG00000112200), ZBTB45 (ENSG00000119574), ZNF410 (ENSG00000119725), SNAI1 (ENSG00000124216), ZNF384 (ENSG00000126746), ZBTB1 (ENSG00000126804), VEZF1 (ENSG00000136451), PRDM14 (ENSG00000147596), ZNF276 (ENSG00000158805), ZNF362 (ENSG00000160094), ZNF653 (ENSG00000161914), ZNF281 (ENSG00000162702), ZNF148 (ENSG00000163848), ZNF143 (ENSG00000166478), HIC2 (ENSG00000169635), PRDM10 (ENSG00000170325), ZNF296 (ENSG00000170684), ZNF692 (ENSG00000171163), ZNF575 (ENSG00000176472), HIC1 (ENSG00000177374), ZBTB18 (ENSG00000179456), ZBTB42 (ENSG00000179627), ZBTB20 (ENSG00000181722), ZBTB7C (ENSG00000184828), SNAI3 (ENSG00000185669), ZFP91 (ENSG00000186660), MTF1 (ENSG00000188786), SCRT2 (ENSG00000215397), SCRT1 (ENSG00000261678)

Protein

Protein identifiers

Zinc finger protein 76 — P36508 (reviewed: P36508)

Alternative names: Zinc finger protein 523

All UniProt accessions (4): P36508, E7EX64, F8W971, H7C513

UniProt curated annotations — full annotation on UniProt →

Function. Transcription factor that regulates expression of genes transcribed by both RNA polymerases II and III. Specifically recognizes and binds the Staf-binding site (SBS), a consensus DNA-binding motif present in many promoters. Able to activate expression of small nuclear RNA (snRNA) transcribed by RNA polymerases II and III. Also regulates expression of mRNAs and acts as a DNA-binding transcription repressor that inhibits the activity of the TATA-binding protein (TBP).

Subunit / interactions. Interacts with TBP; inhibiting TBP activity.

Subcellular location. Nucleus. Chromosome.

Tissue specificity. Widely expressed, with high expression in testis.

Post-translational modifications. Acetylated by EP300/P300, preventing sumoylation by PIAS1. Deacetylated by HDAC1. Sumoylated at Lys-411 by PIAS1; preventing the association between ZNF76 and TBP. Acetylation by EP300/P300 prevents sumoylation by PIAS1.

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

Isoforms (2)

UniProt ID	Names	Canonical?
P36508-1	2	yes
P36508-2	1

RefSeq proteins (2): NP_001278961, NP_003418* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily

Pfam: PF00096

UniProt features (27 total): zinc finger region 7, mutagenesis site 6, repeat 3, sequence variant 3, region of interest 2, cross-link 2, chain 1, compositionally biased region 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P36508-F1	58.67	0.04

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): 24, 411

Mutagenesis-validated functional residues (6):

Position	Phenotype
156	does not affect sumoylation.
226	does not affect sumoylation.
237	does not affect sumoylation.
364	does not affect sumoylation.
400	does not affect sumoylation.
411	decreased sumoylation by pias1.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 100 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, ENK_UV_RESPONSE_KERATINOCYTE_UP, GOBP_TRANSCRIPTION_BY_RNA_POLYMERASE_III, GCM_RING1, GCM_VAV1, GCM_AIP, EVI1_02, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GOBP_NEGATIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, GOBP_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_III, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, DELACROIX_RAR_BOUND_ES, FORTSCHEGGER_PHF8_TARGETS_UP, GOMF_DNA_BINDING_TRANSCRIPTION_ACTIVATOR_ACTIVITY

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 transcription by RNA polymerase III (GO:0006359), positive regulation of transcription by RNA polymerase II (GO:0045944)

GO Molecular Function (10): 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 transcription repressor activity, RNA polymerase II-specific (GO:0001227), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), zinc ion binding (GO:0008270), sequence-specific DNA binding (GO:0043565), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	4
regulation of transcription by RNA polymerase II	3
transcription by RNA polymerase II	3
regulation of DNA-templated transcription	2
DNA-binding transcription factor activity, RNA polymerase II-specific	2
negative regulation of DNA-templated transcription	1
transcription by RNA polymerase III	1
positive regulation of DNA-templated transcription	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
negative regulation of transcription by RNA polymerase II	1
DNA-binding transcription repressor activity	1
DNA-binding transcription activator activity	1
positive regulation of transcription by RNA polymerase II	1
transition metal ion binding	1
DNA binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
nucleic acid binding	1
binding	1
cation binding	1
chromosome	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

934 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF76	TCP11	Q8WWU5	975
ZNF76	MRPS11	P82912	524
ZNF76	KIAA1958	Q8N8K9	433
ZNF76	ZMAT5	Q9UDW3	397
ZNF76	TTC34	A8MYJ7	389
ZNF76	SDHAF2	Q9NX18	388
ZNF76	BRF2	Q9HAW0	377
ZNF76	GTF2A2	P52657	370
ZNF76	CCDC158	Q5M9N0	370
ZNF76	FBXW7	Q969H0	359
ZNF76	SMIM8	Q96KF7	359
ZNF76	F5H5T6	F5H5T6	349
ZNF76	TAF11	Q15544	348
ZNF76	IQSEC3	Q9UPP2	348
ZNF76	SCUBE3	Q8IX30	333

IntAct

272 interactions, top by confidence:

A	B	Type	Score
ZNF76	FHL2	psi-mi:“MI:0915”(physical association)	0.670
ZNF76	GRAPL	psi-mi:“MI:0915”(physical association)	0.560
ZNF76	MBD3L1	psi-mi:“MI:0915”(physical association)	0.560
ZNF76	ZMYM6	psi-mi:“MI:0915”(physical association)	0.560
ZNF76	C22orf15	psi-mi:“MI:0915”(physical association)	0.560
ZNF76	ATP5PO	psi-mi:“MI:0915”(physical association)	0.560
ZNF76	RAB3IP	psi-mi:“MI:0915”(physical association)	0.560
ZNF76	DISC1	psi-mi:“MI:0915”(physical association)	0.560
ZNF76	KRT40	psi-mi:“MI:0915”(physical association)	0.560
	ZNF76	psi-mi:“MI:0915”(physical association)	0.560
KRT75	ZNF76	psi-mi:“MI:0915”(physical association)	0.560
ZNF76	L3MBTL3	psi-mi:“MI:0915”(physical association)	0.560
ZNF76	KLF15	psi-mi:“MI:0915”(physical association)	0.560
ZNF76	KCTD9	psi-mi:“MI:0915”(physical association)	0.560
KPNA3	ZNF76	psi-mi:“MI:0915”(physical association)	0.560
ZNF76	ZC4H2	psi-mi:“MI:0915”(physical association)	0.560
ZNF76	REL	psi-mi:“MI:0915”(physical association)	0.560
PRKAR1B	ZNF76	psi-mi:“MI:0915”(physical association)	0.560
ZNF76	TASOR2	psi-mi:“MI:0915”(physical association)	0.560
ZNF76	MAGEA6	psi-mi:“MI:0915”(physical association)	0.560
ZNF76	LHX3	psi-mi:“MI:0915”(physical association)	0.560
FSD2	ZNF76	psi-mi:“MI:0915”(physical association)	0.560
ZNF76	RALY	psi-mi:“MI:0915”(physical association)	0.560
ZNF76	USP54	psi-mi:“MI:0915”(physical association)	0.560
ZNF76	ZNF526	psi-mi:“MI:0915”(physical association)	0.560
ZNF76	MTUS2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (113): ZNF76 (Affinity Capture-RNA), ZNF76 (Affinity Capture-RNA), ZNF76 (Affinity Capture-RNA), GRHL1 (Affinity Capture-MS), ZBTB1 (Affinity Capture-MS), ZNF76 (Two-hybrid), ZNF76 (Two-hybrid), ZNF76 (Two-hybrid), TBC1D22B (Two-hybrid), FNDC8 (Two-hybrid), CEACAM6 (Two-hybrid), YPEL3 (Two-hybrid), CEP76 (Two-hybrid), KPNA3 (Two-hybrid), FAM173A (Two-hybrid)

ESM2 similar proteins: A6QQW0, B4F7E9, O15391, O43167, O62836, O70230, O70494, P08048, P15337, P17010, P17012, P18846, P20385, P25490, P27699, P36508, P52747, P79145, P81069, P81269, Q00420, Q00899, Q01147, Q01611, Q02447, Q03060, Q03061, Q06547, Q08DA8, Q0V8G2, Q1LYE3, Q1LZH5, Q1RMI3, Q4V8R6, Q52KB5, Q52V16, Q58DZ6, Q5XIU2, Q66K89, Q6B4Z5

Diamond homologs: A6QQW0, B4F7E9, O70230, P36508, P52747, P79288, Q13886, Q1LYE3, Q58DZ6, Q5XIU2, Q8BMU0, Q91853, O35739, O95600, P57682, Q01713, Q60980, O35738, O43474, O75840, Q60793, Q99JB0, Q9Y4X4

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
ZNF76	“down-regulates activity”	TBP	binding
ZNF76	“up-regulates quantity by expression”	TCP1	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	82
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3157 predictions. Top by Δscore:

Variant	Effect	Δscore
6:35281051:CTTA:C	acceptor_loss	1.0000
6:35281054:A:AG	acceptor_gain	1.0000
6:35281055:G:GG	acceptor_gain	1.0000
6:35281055:G:GT	acceptor_loss	1.0000
6:35281055:GATT:G	acceptor_gain	1.0000
6:35281055:GATTT:G	acceptor_gain	1.0000
6:35281220:CAAAG:C	donor_gain	1.0000
6:35281221:AAAG:A	donor_gain	1.0000
6:35281222:AAG:A	donor_gain	1.0000
6:35281223:AG:A	donor_gain	1.0000
6:35281223:AGGT:A	donor_loss	1.0000
6:35281224:GG:G	donor_gain	1.0000
6:35281224:GGTA:G	donor_loss	1.0000
6:35281225:G:GG	donor_gain	1.0000
6:35287640:CTGCA:C	acceptor_loss	1.0000
6:35287641:TGCA:T	acceptor_loss	1.0000
6:35287642:GCA:G	acceptor_loss	1.0000
6:35287643:CAGA:C	acceptor_loss	1.0000
6:35287644:A:AG	acceptor_gain	1.0000
6:35287644:AGAAG:A	acceptor_gain	1.0000
6:35287645:G:GA	acceptor_gain	1.0000
6:35287645:GA:G	acceptor_gain	1.0000
6:35287645:GAA:G	acceptor_gain	1.0000
6:35287645:GAAGG:G	acceptor_gain	1.0000
6:35287841:GCAAG:G	donor_gain	1.0000
6:35287842:CAAGG:C	donor_loss	1.0000
6:35287843:AAGGT:A	donor_loss	1.0000
6:35287844:AGGTG:A	donor_loss	1.0000
6:35287847:T:A	donor_loss	1.0000
6:35290635:TCACA:T	acceptor_loss	1.0000

AlphaMissense

3723 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:35290680:T:A	C197S	1.000
6:35290680:T:C	C197R	1.000
6:35290681:G:C	C197S	1.000
6:35290707:T:C	F206L	1.000
6:35290708:T:C	F206S	1.000
6:35290709:T:A	F206L	1.000
6:35290709:T:G	F206L	1.000
6:35291287:T:C	L212P	1.000
6:35291295:C:A	H215N	1.000
6:35291295:C:G	H215D	1.000
6:35291297:C:A	H215Q	1.000
6:35291297:C:G	H215Q	1.000
6:35291307:C:G	H219D	1.000
6:35291309:C:A	H219Q	1.000
6:35291309:C:G	H219Q	1.000
6:35291331:T:C	C227R	1.000
6:35291358:T:C	F236L	1.000
6:35291359:T:C	F236S	1.000
6:35291360:C:A	F236L	1.000
6:35291360:C:G	F236L	1.000
6:35291377:T:C	L242P	1.000
6:35291385:C:A	H245N	1.000
6:35291385:C:G	H245D	1.000
6:35291387:T:A	H245Q	1.000
6:35291387:T:G	H245Q	1.000
6:35291391:C:A	R247S	1.000
6:35291397:C:G	H249D	1.000
6:35291399:C:A	H249Q	1.000
6:35291399:C:G	H249Q	1.000
6:35291569:T:C	F255L	1.000

dbSNP variants (sampled 300 via entrez): RS1000057218 (6:35259759 G>A,C), RS1000138451 (6:35268851 G>A,T), RS1000177145 (6:35288352 A>C,G), RS1000359561 (6:35295892 G>A,T), RS1000409778 (6:35281841 C>CA), RS1000539612 (6:35259947 C>T), RS1000555399 (6:35265148 G>A), RS1000606330 (6:35264885 T>A), RS1000667722 (6:35294846 C>G), RS1000731354 (6:35291235 C>T), RS1000918417 (6:35277386 T>C), RS1000951418 (6:35257985 G>A), RS1000970220 (6:35277054 C>G,T), RS1001155074 (6:35284575 A>G), RS1001160805 (6:35272505 G>A)

Disease associations

OMIM: gene MIM:194549 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST000175_47	Height	4.000000e-08
GCST002647_52	Height	8.000000e-31
GCST008839_329	Height	7.000000e-11
GCST010002_50	Refractive error	4.000000e-34
GCST90002400_578	Plateletcrit	5.000000e-19

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007985	platelet crit

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance, increases expression	4
Arsenic	affects methylation, decreases expression, increases abundance, increases expression	3
TAK-243	increases sumoylation	1
propionaldehyde	decreases expression	1
bisphenol A	increases expression	1
beta-lapachone	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
butyraldehyde	decreases expression	1
pentanal	decreases expression	1
abrine	increases expression	1
jinfukang	increases expression	1
Acetaminophen	decreases expression	1
Aldehydes	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Lead	affects expression	1
Testosterone	increases expression	1
Thiram	decreases expression	1
Urethane	decreases expression	1
Valproic Acid	decreases expression, increases methylation	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	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_HD42	HEK293 eGFP-ZNF76	Transformed cell line	Female

Clinical trials (associated diseases)

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