ZNF701

Summary

ZNF701 (zinc finger protein 701, HGNC:25597) is a protein-coding gene on chromosome 19q13.41, encoding Zinc finger protein 701 (Q9NV72). May be involved in transcriptional regulation.

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. Predicted to be active in nucleus.

Source: NCBI Gene 55762 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 121 total — 1 pathogenic
• MANE Select transcript: NM_018260

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25597
Approved symbol	ZNF701
Name	zinc finger protein 701
Location	19q13.41
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10891
Ensembl gene	ENSG00000167562
Ensembl biotype	protein_coding
Entrez	55762

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 12 protein_coding, 5 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000301093, ENST00000391785, ENST00000478039, ENST00000593941, ENST00000596514, ENST00000597158, ENST00000753349, ENST00000753350, ENST00000753351, ENST00000850979, ENST00000850980, ENST00000906409, ENST00000906410, ENST00000906411, ENST00000937256, ENST00000937257, ENST00000937258, ENST00000937259, ENST00000971181

RefSeq mRNA: 7 — MANE Select: NM_018260 NM_001172655, NM_001433681, NM_001433682, NM_001433683, NM_001433684, NM_001433685, NM_018260

CCDS: CCDS33092, CCDS54311

Canonical transcript exons

ENST00000391785 — 4 exons

Exon	Start	End
ENSE00002234009	52582202	52587174
ENSE00002519915	52575895	52576021
ENSE00003171682	52570287	52570330
ENSE00004283129	52574077	52574162

Expression profiles

Bgee: expression breadth ubiquitous, 204 present calls, max score 88.79.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.3754 / max 72.2144, expressed in 1505 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
177312	5.3754	1505

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	88.79	gold quality
tendon of biceps brachii	UBERON:0008188	87.45	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.49	gold quality
amniotic fluid	UBERON:0000173	85.39	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.82	gold quality
tendon	UBERON:0000043	83.95	gold quality
calcaneal tendon	UBERON:0003701	83.02	gold quality
granulocyte	CL:0000094	80.45	gold quality
leukocyte	CL:0000738	79.43	gold quality
monocyte	CL:0000576	79.36	gold quality
mononuclear cell	CL:0000842	79.09	gold quality
colonic epithelium	UBERON:0000397	79.02	gold quality
right uterine tube	UBERON:0001302	78.96	gold quality
sural nerve	UBERON:0015488	77.90	gold quality
adrenal tissue	UBERON:0018303	77.79	gold quality
rectum	UBERON:0001052	77.68	gold quality
right lobe of thyroid gland	UBERON:0001119	77.47	gold quality
left lobe of thyroid gland	UBERON:0001120	76.80	gold quality
apex of heart	UBERON:0002098	76.67	gold quality
endothelial cell	CL:0000115	76.65	silver quality
islet of Langerhans	UBERON:0000006	76.60	gold quality
stromal cell of endometrium	CL:0002255	76.50	gold quality
thyroid gland	UBERON:0002046	76.50	gold quality
blood	UBERON:0000178	76.38	gold quality
lower esophagus mucosa	UBERON:0035834	76.13	gold quality
mucosa of stomach	UBERON:0001199	76.06	gold quality
pancreatic ductal cell	CL:0002079	75.78	silver quality
ganglionic eminence	UBERON:0004023	75.78	gold quality
right adrenal gland cortex	UBERON:0035827	75.78	gold quality
hindlimb stylopod muscle	UBERON:0004252	75.75	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.95

Regulation

Is transcription factor: yes

JASPAR motifs

Motif	Name	Family
MA1987.1	ZNF701	More than 3 adjacent zinc fingers
MA1987.2	ZNF701	More than 3 adjacent zinc fingers

JASPAR matrix evidence (PMIDs): PMID:22955616

miRNA regulators (miRDB)

108 targeting ZNF701, 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-6833-3P	100.00	70.63	3197
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-548BB-3P	99.86	70.58	4354

Literature-anchored findings (GeneRIF, showing 1)

• Mediating effect of genome-wide DNA methylation on suicidal ideation induced by perceived stress. (PMID:34050117)

Cross-species orthologs

0 orthologs

Paralogs (11): ZNF761 (ENSG00000160336), ZNF816 (ENSG00000180257), ZNF766 (ENSG00000196214), ZNF765 (ENSG00000196417), ZNF860 (ENSG00000197385), ZNF813 (ENSG00000198346), ZNF525 (ENSG00000203326), ZNF468 (ENSG00000204604), ZNF888 (ENSG00000213793), ZNF578 (ENSG00000258405), (ENSG00000269825)

Protein

Protein identifiers

Zinc finger protein 701 — Q9NV72 (reviewed: Q9NV72)

All UniProt accessions (3): Q9NV72, M0R085, M0R327

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in transcriptional regulation.

Subcellular location. Nucleus.

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

Isoforms (2)

UniProt ID	Names	Canonical?
Q9NV72-1	1	yes
Q9NV72-2	2

RefSeq proteins (7): NP_001166126, NP_001420610, NP_001420611, NP_001420612, NP_001420613, NP_001420614, NP_060730* (*=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 (22 total): zinc finger region 9, sequence variant 7, chain 1, domain 1, region of interest 1, compositionally biased region 1, cross-link 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NV72-F1	57.65	0.12

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 (1): 271

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway

MSigDB gene sets: 66 (showing top): BLALOCK_ALZHEIMERS_DISEASE_UP, GEORGES_TARGETS_OF_MIR192_AND_MIR215, GAZDA_DIAMOND_BLACKFAN_ANEMIA_ERYTHROID_DN, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GINESTIER_BREAST_CANCER_20Q13_AMPLIFICATION_DN, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, ASH1L_TARGET_GENES, CBX5_TARGET_GENES, CBX7_TARGET_GENES, E2F2_TARGET_GENES, ELF2_TARGET_GENES, H1_6_TARGET_GENES, KAT5_TARGET_GENES, ZNF274_TARGET_GENES, ZNF350_TARGET_GENES

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

GO Molecular Function (5): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), zinc ion binding (GO:0008270), DNA binding (GO:0003677), 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
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	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
transition metal ion binding	1
nucleic acid binding	1
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

490 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF701	Q6GMV1	Q6GMV1	447
ZNF701	TRIM61	Q5EBN2	440
ZNF701	CYB561D1	Q8N8Q1	411
ZNF701	TAS2R30	P59541	404
ZNF701	OR8U1	Q8NH10	400
ZNF701	HRCT1	Q6UXD1	399
ZNF701	DQX1	Q8TE96	398
ZNF701	DNHD1	Q96M86	371
ZNF701	DCAF4L2	Q8NA75	370
ZNF701	TOP6BL	Q8N6T0	369
ZNF701	SNX11	Q9Y5W9	365
ZNF701	ZER1	Q7Z7L7	348
ZNF701	SLFN14	P0C7P3	348
ZNF701	ZYG11B	Q9C0D3	326
ZNF701	UTP3	Q9NQZ2	323

IntAct

8 interactions, top by confidence:

A	B	Type	Score
TRIM28	ZNF320	psi-mi:“MI:0914”(association)	0.530
TRIM28	ZNF320	psi-mi:“MI:0914”(association)	0.350
GPATCH4	NOP56	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
	NVL	psi-mi:“MI:0914”(association)	0.350
RBM4B	ZNF320	psi-mi:“MI:0914”(association)	0.350

BioGRID (18): ZNF701 (Affinity Capture-MS), ZNF701 (Affinity Capture-MS), ZNF701 (Affinity Capture-MS), ZNF701 (Affinity Capture-MS), ZNF701 (Affinity Capture-MS), ZNF701 (Affinity Capture-MS), ZYG11B (Protein-peptide), ZNF701 (Protein-peptide), ZNF701 (Protein-peptide), ZNF701 (Co-crystal Structure), ZNF701 (Affinity Capture-MS), ZER1 (Affinity Capture-Western), ZNF701 (Protein-peptide), ZNF701 (Protein-peptide), ZNF701 (Co-crystal Structure)

ESM2 similar proteins: A0A1W2PQL4, A0JPL0, A2RRD8, A6NHJ4, A6NP11, B4DX44, O75346, O95780, P0CB33, P21506, P51508, P52738, Q0D2J5, Q0VGE8, Q12901, Q13360, Q14593, Q15973, Q2M218, Q2M3X9, Q2VY69, Q3SXZ3, Q5HY98, Q5RCJ2, Q5VIY5, Q6J6I6, Q7L2R6, Q86XU0, Q86Y25, Q8IW36, Q8IYN0, Q8IYX0, Q8N782, Q8N883, Q8N9Z0, Q8NDP4, Q95K49, Q969W8, Q96H40, Q96N58

Diamond homologs: A0A1W2PQL4, A2RRD8, A2VDQ7, A6NHJ4, A6NK75, A6NN14, A6NNF4, A6NP11, B4DX44, B4DXR9, E9PW05, O14628, O43345, O75290, O75346, O75373, O75820, P0CB33, P0CJ79, P0DKX0, P10755, P17032, P17035, P52738, Q02386, Q03923, Q03936, Q05481, Q08AN1, Q09FC8, Q0VGE8, Q14586, Q14593, Q147U1, Q15928, Q3MIS6, Q3SXZ3, Q494X3, Q4R6C2, Q5HY98

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	105
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	Pathogenic

SpliceAI

545 predictions. Top by Δscore:

Variant	Effect	Δscore
19:52570327:GGCG:G	donor_gain	1.0000
19:52570328:GCGG:G	donor_gain	1.0000
19:52570329:CGG:C	donor_loss	1.0000
19:52570331:G:GG	donor_gain	1.0000
19:52575891:TCA:T	acceptor_loss	1.0000
19:52575892:CA:C	acceptor_loss	1.0000
19:52575893:A:AG	acceptor_gain	1.0000
19:52575893:A:AT	acceptor_loss	1.0000
19:52575893:AG:A	acceptor_gain	1.0000
19:52575894:G:GG	acceptor_gain	1.0000
19:52575894:GG:G	acceptor_gain	1.0000
19:52575894:GGGT:G	acceptor_gain	1.0000
19:52575894:GGGTC:G	acceptor_gain	1.0000
19:52582191:A:AG	acceptor_gain	1.0000
19:52582193:A:AG	acceptor_gain	1.0000
19:52582194:T:G	acceptor_gain	1.0000
19:52582197:TGTAG:T	acceptor_loss	1.0000
19:52582200:A:AG	acceptor_gain	1.0000
19:52582200:AGAT:A	acceptor_loss	1.0000
19:52582201:G:GA	acceptor_gain	1.0000
19:52582201:GA:G	acceptor_gain	1.0000
19:52582201:GAT:G	acceptor_gain	1.0000
19:52582201:GATA:G	acceptor_gain	1.0000
19:52582201:GATAC:G	acceptor_gain	1.0000
19:52570326:CGGCG:C	donor_gain	0.9900
19:52570327:GGCGG:G	donor_gain	0.9900
19:52570328:GCG:G	donor_gain	0.9900
19:52570329:CG:C	donor_gain	0.9900
19:52570330:GG:G	donor_gain	0.9900
19:52570332:T:A	donor_loss	0.9900

AlphaMissense

3112 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:52583146:T:C	F429L	0.995
19:52583148:C:A	F429L	0.995
19:52583148:C:G	F429L	0.995
19:52583398:T:C	F513L	0.995
19:52583400:T:A	F513L	0.995
19:52583400:T:G	F513L	0.995
19:52583062:T:C	F401L	0.994
19:52583064:C:A	F401L	0.994
19:52583064:C:G	F401L	0.994
19:52582978:T:C	F373L	0.993
19:52582980:T:A	F373L	0.993
19:52582980:T:G	F373L	0.993
19:52583230:T:C	F457L	0.993
19:52583232:T:A	F457L	0.993
19:52583232:T:G	F457L	0.993
19:52583314:T:C	F485L	0.993
19:52583316:T:A	F485L	0.993
19:52583316:T:G	F485L	0.993
19:52582894:T:C	F345L	0.992
19:52582896:C:A	F345L	0.992
19:52582896:C:G	F345L	0.992
19:52583175:T:A	H438Q	0.987
19:52583175:T:G	H438Q	0.987
19:52583405:G:C	R515P	0.985
19:52575928:T:C	F83L	0.984
19:52575930:C:A	F83L	0.984
19:52575930:C:G	F83L	0.984
19:52583069:G:C	R403P	0.982
19:52583103:C:A	H414Q	0.982
19:52583103:C:G	H414Q	0.982

dbSNP variants (sampled 300 via entrez): RS1000079959 (19:52600642 A>C,G), RS1000152012 (19:52570141 G>A,C), RS1000176005 (19:52588461 T>A), RS1000278609 (19:52584333 G>A), RS1000331006 (19:52595390 C>G), RS1000424747 (19:52582040 C>G), RS1000447071 (19:52595640 G>T), RS1000473739 (19:52589059 T>C), RS1000538513 (19:52583487 C>G,T), RS1000609465 (19:52585165 G>A), RS1000623195 (19:52578147 G>A), RS1000766241 (19:52588785 C>T), RS1000821025 (19:52589572 C>A,T), RS1000823831 (19:52570845 A>G), RS1000868619 (19:52580692 C>G)

Disease associations

OMIM: gene `` | 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
GCST003501_3	Asparaginase-induced acute pancreatitis in acute lymphoblastic leukemia (onset time)	2.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:1001507	asparaginase-induced acute pancreatitis

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	3
Benzo(a)pyrene	increases expression, increases methylation, decreases reaction	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
GSK-J4	decreases expression	1
chlorophyllin	increases expression, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
butyraldehyde	increases expression	1
potassium chromate(VI)	increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
Temozolomide	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Cadmium	increases abundance, increases expression	1
Hydralazine	affects cotreatment, increases expression	1
Ozone	affects expression, increases abundance	1
Tobacco Smoke Pollution	increases expression	1
Valproic Acid	affects cotreatment, increases expression	1
Vanadates	decreases expression	1
Antirheumatic Agents	decreases expression	1
Copper Sulfate	increases expression	1
Lactic Acid	increases expression	1
Acrylamide	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_XW77	HEK293 eGFP-ZNF701	Transformed cell line	Female

Clinical trials (associated diseases)

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