ZNF350

Summary

ZNF350 (zinc finger protein 350, HGNC:16656) is a protein-coding gene on chromosome 19q13.41, encoding Zinc finger protein 350 (Q9GZX5). Transcriptional repressor.

Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in nuclear body. Part of transcription repressor complex.

Source: NCBI Gene 59348 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 77 total
• Transcription factor: yes — 10 downstream targets (CollecTRI)
• MANE Select transcript: NM_021632

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16656
Approved symbol	ZNF350
Name	zinc finger protein 350
Location	19q13.41
Locus type	gene with protein product
Status	Approved
Aliases	ZBRK1, ZFQR
Ensembl gene	ENSG00000256683
Ensembl biotype	protein_coding
OMIM	605422
Entrez	59348

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 16 protein_coding, 2 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000243644, ENST00000593596, ENST00000594929, ENST00000597555, ENST00000597788, ENST00000598254, ENST00000599258, ENST00000600703, ENST00000601430, ENST00000853589, ENST00000853590, ENST00000853591, ENST00000853592, ENST00000853593, ENST00000934229, ENST00000934230, ENST00000970659, ENST00000970660, ENST00000970661, ENST00000970662

RefSeq mRNA: 1 — MANE Select: NM_021632 NM_021632

CCDS: CCDS12845

Canonical transcript exons

ENST00000243644 — 5 exons

Exon	Start	End
ENSE00000842693	51964340	51966214
ENSE00003504312	51968578	51968673
ENSE00003543662	51974346	51974531
ENSE00003614937	51969005	51969131
ENSE00003850444	51986770	51986840

Expression profiles

Bgee: expression breadth ubiquitous, 238 present calls, max score 89.58.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.6328 / max 125.4200, expressed in 1620 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
182510	8.6328	1620

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	89.58	gold quality
monocyte	CL:0000576	89.51	gold quality
mononuclear cell	CL:0000842	88.69	gold quality
leukocyte	CL:0000738	88.36	gold quality
amniotic fluid	UBERON:0000173	85.17	gold quality
prostate gland	UBERON:0002367	85.17	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.41	gold quality
bone marrow	UBERON:0002371	84.04	gold quality
sperm	CL:0000019	83.99	gold quality
tendon	UBERON:0000043	83.11	gold quality
germinal epithelium of ovary	UBERON:0001304	83.00	gold quality
cortical plate	UBERON:0005343	83.00	gold quality
rectum	UBERON:0001052	82.63	gold quality
granulocyte	CL:0000094	82.62	gold quality
blood	UBERON:0000178	82.57	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.01	gold quality
male germ cell	CL:0000015	81.12	silver quality
sural nerve	UBERON:0015488	81.01	gold quality
tibial artery	UBERON:0007610	80.68	gold quality
popliteal artery	UBERON:0002250	80.67	gold quality
cerebellar hemisphere	UBERON:0002245	80.50	gold quality
cerebellar cortex	UBERON:0002129	80.46	gold quality
secondary oocyte	CL:0000655	80.41	silver quality
palpebral conjunctiva	UBERON:0001812	80.37	gold quality
bone marrow cell	CL:0002092	80.36	gold quality
ganglionic eminence	UBERON:0004023	80.23	gold quality
left ovary	UBERON:0002119	80.11	gold quality
parietal pleura	UBERON:0002400	80.08	gold quality
descending thoracic aorta	UBERON:0002345	79.83	gold quality
left lobe of thyroid gland	UBERON:0001120	79.73	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

10 targets.

Target	Regulation
ANGPT1
AQP1
ATXN2	Activation
CDKN1A
GADD45A	Repression
HMGA2	Repression
MMP9	Unknown
RBBP8	Unknown
TRIM28	Unknown
ZNF350

Upstream regulators (CollecTRI, top): E2F1, E2F4, E2F6, ZNF350

miRNA regulators (miRDB)

32 targeting ZNF350, 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-3692-3P	99.98	70.27	2139
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-1255A	99.74	68.09	744
HSA-MIR-1255B-5P	99.74	68.16	741
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-1283	99.69	72.42	3009
HSA-MIR-1260A	99.61	66.67	1098
HSA-MIR-1260B	99.61	66.67	1098
HSA-MIR-885-5P	99.59	68.59	879
HSA-MIR-642A-3P	99.23	67.67	1258
HSA-MIR-642B-3P	99.23	67.67	1258
HSA-MIR-2117	98.48	67.97	1307
HSA-MIR-4691-5P	98.41	66.77	1343
HSA-MIR-6792-3P	98.41	66.86	1359
HSA-MIR-4521	97.73	67.64	684
HSA-MIR-6514-3P	97.52	66.50	808
HSA-MIR-148B-5P	97.29	66.30	992
HSA-MIR-6874-3P	97.29	66.34	975
HSA-MIR-1913	97.07	66.20	1417
HSA-MIR-3663-5P	97.01	64.84	713
HSA-MIR-4433A-5P	96.79	65.01	599
HSA-MIR-514A-3P	96.43	67.77	1048
HSA-MIR-514B-3P	96.43	67.77	1048

Literature-anchored findings (GeneRIF, showing 32)

• ZBRK1 mutation found in BRCA1 and BRCA2 mutation negative probands with breast or ovarian cancer. (PMID:12872252)
• ZBRK1 is a novel target for DNA damage-induced degradation (PMID:14517299)
• ZBRK1 zinc fingers have dual roles in sequence-specific DNA-binding and BRCA1-dependent transcriptional repression (PMID:14660588)
• the CTRD is a novel protein interaction surface responsible for directing homotypic and heterotypic interactions necessary for ZBRK1-directed transcriptional repression (PMID:15496401)
• interacts with BBLF2/3 to provide a tethering point on oriLyt for the EBV replication complex (PMID:15596820)
• KRAB-induced transcriptional repression is robust and active over a variety of genomic contexts that include at least the wide range of sites targeted by lentiviral integration (PMID:16997916)
• Genetic variants and haplotypes of the ZBRK1 gene is associated with breast and ovarian cancer (PMID:17764113)
• KRAB/KAP1 regulation is fully functional within the context of episomal DNA (PMID:19279087)
• BRCA1 and ZNF350 may jointly contribute to individuals’ susceptibility of breast cancer in Chinese women. (PMID:19484476)
• Our findings suggest that ZBRK1 acts to inhibit metastasis of cervical carcinoma, perhaps by modulating MMP9 expression. (PMID:19996286)
• Data found that HMGA2, along with a dozen of other genes, was co-repressed by ZBRK1, BRCA1, and CtIP. (PMID:20007691)
• KRAB/KAP1 recruitment induces long-range repression through the spread of heterochromatin. (PMID:20221260)
• RB.E2F1 complex plays a critical role in ZBRK1 transcriptional repression, and loss of this repression may contribute to cellular sensitivity of DNA damage, ultimately leading to carcinogenesis. (PMID:20713352)
• KRAB-containing zinc-finger transcriptional regulator, ZBRK1, an interaction partner of the SCA2 gene product ataxin-2. (PMID:20926453)
• high levels of gene activity in the genomic environment and the pre-deposition of repressive histone marks within a gene increase its susceptibility to KRAB/KAP1-mediated repression (PMID:21791101)
• ZBRK1 negatively regulates the HIV-1 LTR (PMID:22975076)
• promoter assays in two breast cancer cell lines identified two haplotypes (H11 and H12) stimulating significantly the expression of ZNF350 transcript compared with the common haplotype H8 (PMID:23151675)
• results indicate that a loss of ZBRK1 contributes to the increased expression of KAP1, potentiating its role to enhance metastasis and invasion (PMID:23991171)
• The secondary structure of the ZBRK1-DNA complex is found to be significantly altered from the standard B-DNA conformation. (PMID:24924633)
• MAGE proteins bind to KAP1, a gene repressor and ubiquitin E3 ligase which also binds KRAB domain containing zinc finger transcription factors (KZNFs), and MAGE expression may affect KZNF mediated gene regulation. (PMID:25107531)
• ZBRK1 suppresses renal cancer progression perhaps by regulating VHL expression through formation of a complex with VHL and p300 in renal cancer (PMID:25749518)
• villin directly interacts with a transcriptional corepressor and ligand of the Slug promoter, ZBRK1. (PMID:26658611)
• Results indicated that SNP rs2278414 at ZNF350 may in fl uence an individual’s susceptibility to age-related cataract (ARC) by affecting the binding af fi nity of miR-21-3p and miR-150-5p and regulating expression levels of the mRNAs, resulting in different levels of cellular DNA breaks, thus contributing to ARC. (PMID:27586871)
• Results indicate ZNF350 as an important gene mammary oncogenesis. (PMID:29653063)
• These data indicate that the KAP1-KZNF pathway contributes to genome stability and innate immune control in adult human cells. (PMID:30061100)
• BRCA1 forms a co-repressor complex with ZBRK1 that coordinately represses GOT2 expression via a ZBRK1 recognition element in the promoter of GOT2. (PMID:30714292)
• The work identifies the interaction interfaces in the KAP1 tripartite motif responsible for self-association and KRAB binding and establishes their role in retrotransposon silencing. (PMID:31289231)
• PFKP is transcriptionally repressed by BRCA1/ZBRK1 and predicts prognosis in breast cancer. (PMID:32470015)
• Correlation between ZBRK1/ZNF350 gene polymorphism and breast cancer. (PMID:33407485)
• Role of the Transcriptional Repressor Zinc Finger with KRAB and SCAN Domains 3 (ZKSCAN3) in Retinal Pigment Epithelial Cells. (PMID:34685484)
• IRF1/ZNF350/GPX4-mediated ferroptosis of renal tubular epithelial cells promote chronic renal allograft interstitial fibrosis. (PMID:36356714)
• HECW1 induces NCOA4-regulated ferroptosis in glioma through the ubiquitination and degradation of ZNF350. (PMID:38049396)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
drosophila_melanogaster	CG14442	FBGN0029893
drosophila_melanogaster	CG14440	FBGN0029894

Paralogs (11): IKZF2 (ENSG00000030419), ZNF821 (ENSG00000102984), ZNF639 (ENSG00000121864), IKZF4 (ENSG00000123411), ZNF382 (ENSG00000161298), IKZF3 (ENSG00000161405), ZNF613 (ENSG00000176024), IKZF1 (ENSG00000185811), ZNF567 (ENSG00000189042), ZNF649 (ENSG00000198093), ZNF564 (ENSG00000249709)

Protein

Protein identifiers

Zinc finger protein 350 — Q9GZX5 (reviewed: Q9GZX5)

Alternative names: KRAB zinc finger protein ZFQR, Zinc finger and BRCA1-interacting protein with a KRAB domain 1, Zinc finger protein ZBRK1

All UniProt accessions (5): Q9GZX5, M0QY52, M0QYT6, M0R017, M0R1T8

UniProt curated annotations — full annotation on UniProt →

Function. Transcriptional repressor. Binds to a specific sequence, 5’-GGGxxxCAGxxxTTT-3’, within GADD45 intron 3.

Subunit / interactions. Interacts with BRCA1. Interacts with RNF11.

Subcellular location. Nucleus. Nucleus matrix.

Tissue specificity. Widely expressed.

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

RefSeq proteins (1): NP_067645* (*=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
IPR050527

Pfam: PF00096, PF01352, PF13465

UniProt features (21 total): sequence variant 8, zinc finger region 8, compositionally biased region 2, chain 1, domain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9GZX5-F1	59.33	0.10

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway
R-HSA-3899300	SUMOylation of transcription cofactors

MSigDB gene sets: 76 (showing top): MODULE_205, BLALOCK_ALZHEIMERS_DISEASE_UP, BASAKI_YBX1_TARGETS_DN, PUJANA_BREAST_CANCER_LIT_INT_NETWORK, GOCC_NUCLEAR_BODY, GOCC_TRANSCRIPTION_REPRESSOR_COMPLEX, GOCC_TRANSCRIPTION_REGULATOR_COMPLEX, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_NEGATIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOMF_RNA_POLYMERASE_II_INTRONIC_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_DNA_BINDING, REACTOME_SUMOYLATION, REACTOME_SUMOYLATION_OF_TRANSCRIPTION_COFACTORS, OISHI_CHOLANGIOMA_STEM_CELL_LIKE_UP

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

GO Molecular Function (9): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872), sequence-specific double-stranded DNA binding (GO:1990837)

GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), nuclear matrix (GO:0016363), nuclear body (GO:0016604), transcription repressor complex (GO:0017053)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
RNA Polymerase II Transcription	1
SUMO E3 ligases SUMOylate target proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	3
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
transcription by RNA polymerase II	2
DNA-templated transcription	2
nuclear lumen	2
cellular anatomical structure	2
regulation of transcription by RNA polymerase II	1
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
cis-regulatory region sequence-specific DNA binding	1
intronic transcription regulatory region sequence-specific DNA binding	1
negative regulation of transcription by RNA polymerase II	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription repressor activity	1
nucleic acid binding	1
transcription cis-regulatory region binding	1
transcription regulator activity	1
transition metal ion binding	1
binding	1
cation binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
intracellular membrane-bounded organelle	1
nucleoplasm	1
intracellular membraneless organelle	1
transcription regulator complex	1

Protein interactions and networks

STRING

590 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF350	BRCA1	P38398	994
ZNF350	RBBP8	Q99708	987
ZNF350	BRCA2	P51587	655
ZNF350	GADD45A	P24522	649
ZNF350	ATXN2	Q99700	569
ZNF350	BRIP1	Q9BX63	545
ZNF350	RNF11	Q9Y3C5	526
ZNF350	NELFB	Q8WX92	499
ZNF350	MAGED2	Q9UNF1	493
ZNF350	DHX9	Q08211	484
ZNF350	BARD1	Q99728	467
ZNF350	STAMBP	O95630	460
ZNF350	BRAP	Q7Z569	459
ZNF350	TRIM28	Q13263	452
ZNF350	MED21	Q13503	436
ZNF350	COPS5	Q92905	436

IntAct

16 interactions, top by confidence:

A	B	Type	Score
BRCA1	ZNF350	psi-mi:“MI:0915”(physical association)	0.580
ZNF350	BRCA1	psi-mi:“MI:0915”(physical association)	0.580
ZNF350	TRIM28	psi-mi:“MI:0915”(physical association)	0.560
ZNF350		psi-mi:“MI:0915”(physical association)	0.370
ZNF350	NEK1	psi-mi:“MI:0915”(physical association)	0.370
ZNF350	PTCHD1	psi-mi:“MI:0915”(physical association)	0.370
RNF11	ZNF350	psi-mi:“MI:0915”(physical association)	0.370
ATF7IP	ZNF350	psi-mi:“MI:0915”(physical association)	0.370
ATG16L1		psi-mi:“MI:0914”(association)	0.350
ZNF350	CCNC	psi-mi:“MI:0914”(association)	0.350
MTNR1A	ZNF350	psi-mi:“MI:0915”(physical association)	0.000
MEF2C	ZNF350	psi-mi:“MI:0915”(physical association)	0.000
RCAN1	ZNF350	psi-mi:“MI:0915”(physical association)	0.000
TIAM1	ZNF350	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (41): ZNF350 (Reconstituted Complex), ZNF350 (Two-hybrid), ZNF350 (Affinity Capture-Western), VHL (Affinity Capture-Western), EP300 (Affinity Capture-Western), ZNF350 (Two-hybrid), ZNF350 (Two-hybrid), ZNF350 (Two-hybrid), ZNF350 (Co-purification), ZNF350 (Affinity Capture-MS), ZNF350 (Affinity Capture-Western), ZNF350 (Two-hybrid), ZNF350 (Affinity Capture-Western), ZNF350 (Affinity Capture-Western), BRCA1 (Affinity Capture-Western)

ESM2 similar proteins: A1KXM5, A1YFC1, A1YGK6, A2T7F2, A7KBS4, B2RXC5, E1JH25, G3X9G7, O96001, P16531, P18748, P34307, P88825, Q2EI21, Q3URU2, Q3V0C1, Q4V8E9, Q5JRM2, Q5R7U0, Q5RDG2, Q5RE50, Q5REF1, Q5SRN2, Q5SS00, Q5U4C1, Q6H236, Q6P1M9, Q6ZN11, Q810T2, Q8BUY8, Q8N3K9, Q8N660, Q8N720, Q8N859, Q8R2V3, Q920R4, Q921B4, Q923B3, Q95JY5, Q96D09

Diamond homologs: A0A1W2PQL4, A0JNB1, A0JPL0, A6NK53, A6QLU5, A6QPT6, A7MBI1, A8MT65, A8MUV8, A8MWA4, B2RXC5, B4DU55, B4DX44, E9PYI1, O14628, O75346, P0CH99, P0CI00, P17014, P17030, P17032, P17098, P51786, P85977, Q02386, Q06730, Q06732, Q0VAW7, Q12901, Q13360, Q14586, Q14588, Q14590, Q16587, Q2M3X9, Q2VY69, Q32M78, Q3ZCX4, Q49AA0, Q4R6J4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	66
Likely benign	5
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1214 predictions. Top by Δscore:

Variant	Effect	Δscore
19:51966210:TATGT:T	acceptor_gain	1.0000
19:51966212:TGT:T	acceptor_gain	1.0000
19:51966214:TCTA:T	acceptor_loss	1.0000
19:51966215:C:CC	acceptor_gain	1.0000
19:51966216:T:A	acceptor_loss	1.0000
19:51968572:TCTCA:T	donor_loss	1.0000
19:51968573:CTCAC:C	donor_loss	1.0000
19:51968574:TCAC:T	donor_loss	1.0000
19:51968575:CACCT:C	donor_loss	1.0000
19:51968576:ACCT:A	donor_loss	1.0000
19:51968577:C:T	donor_loss	1.0000
19:51968669:ATACC:A	acceptor_gain	1.0000
19:51968670:TACC:T	acceptor_gain	1.0000
19:51968671:ACC:A	acceptor_gain	1.0000
19:51968671:ACCCT:A	acceptor_loss	1.0000
19:51968672:CC:C	acceptor_gain	1.0000
19:51968672:CCC:C	acceptor_gain	1.0000
19:51968672:CCCTG:C	acceptor_loss	1.0000
19:51968673:CC:C	acceptor_gain	1.0000
19:51968673:CCTGT:C	acceptor_loss	1.0000
19:51968674:C:CC	acceptor_gain	1.0000
19:51968675:T:A	acceptor_loss	1.0000
19:51968679:CA:C	acceptor_gain	1.0000
19:51968680:A:AC	acceptor_gain	1.0000
19:51968680:A:C	acceptor_gain	1.0000
19:51969004:CCCA:C	donor_gain	1.0000
19:51969007:A:AC	donor_gain	1.0000
19:51969008:C:CC	donor_gain	1.0000
19:51969009:TGC:T	donor_gain	1.0000
19:51974341:GTTA:G	donor_loss	1.0000

AlphaMissense

3550 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:51965220:A:C	F411L	1.000
19:51965220:A:T	F411L	1.000
19:51965222:A:G	F411L	1.000
19:51965304:A:C	F383L	0.999
19:51965304:A:T	F383L	0.999
19:51965306:A:G	F383L	0.999
19:51965472:G:C	F327L	0.999
19:51965472:G:T	F327L	0.999
19:51965474:A:G	F327L	0.999
19:51965556:G:C	F299L	0.999
19:51965556:G:T	F299L	0.999
19:51965558:A:G	F299L	0.999
19:51965221:A:G	F411S	0.998
19:51965275:T:G	Q393P	0.998
19:51965287:A:G	L389P	0.998
19:51965473:A:G	F327S	0.998
19:51965524:C:G	R310P	0.998
19:51965557:A:G	F299S	0.998
19:51965222:A:T	F411I	0.997
19:51965265:A:C	H396Q	0.997
19:51965265:A:T	H396Q	0.997
19:51965279:G:C	H392D	0.997
19:51965371:A:G	L361P	0.997
19:51965415:A:C	F346L	0.997
19:51965415:A:T	F346L	0.997
19:51965417:A:G	F346L	0.997
19:51965531:G:C	H308D	0.997
19:51965539:A:G	L305P	0.997
19:51965640:A:C	F271L	0.997
19:51965640:A:T	F271L	0.997

dbSNP variants (sampled 300 via entrez): RS1000099533 (19:51971005 G>A), RS1000301240 (19:51981362 A>G,T), RS1000442576 (19:51975829 A>C,G), RS1000703594 (19:51972306 A>G), RS1000740332 (19:51975497 G>T), RS1000791238 (19:51971074 A>T), RS1000825609 (19:51971385 C>T), RS1001192520 (19:51967893 G>A), RS1001223531 (19:51968214 G>A), RS1001480751 (19:51979778 A>G), RS1001532883 (19:51980027 A>G), RS1001546560 (19:51984472 T>A,C), RS1001740609 (19:51974216 A>G), RS1002043280 (19:51985289 A>G), RS1002109172 (19:51973694 T>C)

Disease associations

OMIM: gene MIM:605422 | 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
GCST007277_24	Tourette syndrome	9.000000e-07

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	2
Cisplatin	affects cotreatment, decreases expression, increases expression	2
Methyl Methanesulfonate	affects binding, decreases reaction, increases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
FR900359	increases phosphorylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
bisphenol S	affects cotreatment, increases methylation	1
jinfukang	affects cotreatment, decreases expression	1
MT19c compound	increases expression	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Benzo(a)pyrene	decreases expression	1
Coumestrol	decreases expression	1
Doxorubicin	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Lead	decreases expression	1
Urethane	increases expression	1
Aflatoxin B1	increases methylation	1
Copper Sulfate	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_XW36	HEK293 eGFP-ZNF350	Transformed cell line	Female

Clinical trials (associated diseases)

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