ZNF607

Summary

ZNF607 (zinc finger protein 607, HGNC:28192) is a protein-coding gene on chromosome 19q13.1, encoding Zinc finger protein 607 (Q96SK3). 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 located in mitochondrial inner membrane. Predicted to be active in nucleus.

Source: NCBI Gene 84775 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 115 total
• MANE Select transcript: NM_032689

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28192
Approved symbol	ZNF607
Name	zinc finger protein 607
Location	19q13.1
Locus type	gene with protein product
Status	Approved
Aliases	MGC13071, FLJ14802
Ensembl gene	ENSG00000198182
Ensembl biotype	protein_coding
Entrez	84775

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 8 protein_coding, 1 nonsense_mediated_decay

ENST00000355202, ENST00000395835, ENST00000586559, ENST00000590670, ENST00000591664, ENST00000869562, ENST00000920828, ENST00000920829, ENST00000920830

RefSeq mRNA: 3 — MANE Select: NM_032689 NM_001172677, NM_001375895, NM_032689

CCDS: CCDS33006, CCDS54259

Canonical transcript exons

ENST00000355202 — 5 exons

Exon	Start	End
ENSE00001662347	37719269	37719761
ENSE00002868824	37696371	37699895
ENSE00003503489	37711610	37711692
ENSE00003621508	37709696	37709822
ENSE00003663629	37707914	37708012

Expression profiles

Bgee: expression breadth ubiquitous, 199 present calls, max score 84.81.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.3561 / max 35.7857, expressed in 1287 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
180733	3.1582	1268
180732	0.1979	91

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.81	gold quality
secondary oocyte	CL:0000655	83.75	gold quality
cortical plate	UBERON:0005343	81.00	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.12	gold quality
ventricular zone	UBERON:0003053	78.09	gold quality
ganglionic eminence	UBERON:0004023	77.89	gold quality
islet of Langerhans	UBERON:0000006	77.13	gold quality
right testis	UBERON:0004534	76.04	gold quality
cerebellar vermis	UBERON:0004720	75.59	gold quality
left testis	UBERON:0004533	75.39	gold quality
right uterine tube	UBERON:0001302	75.25	gold quality
stromal cell of endometrium	CL:0002255	74.83	gold quality
cerebellar cortex	UBERON:0002129	74.59	gold quality
cerebellar hemisphere	UBERON:0002245	74.57	gold quality
right hemisphere of cerebellum	UBERON:0014890	74.11	gold quality
bronchial epithelial cell	CL:0002328	73.81	gold quality
testis	UBERON:0000473	73.70	gold quality
lower esophagus mucosa	UBERON:0035834	73.60	gold quality
cerebellum	UBERON:0002037	73.47	gold quality
adenohypophysis	UBERON:0002196	73.23	gold quality
left ovary	UBERON:0002119	73.10	gold quality
apex of heart	UBERON:0002098	72.94	gold quality
right ovary	UBERON:0002118	72.81	gold quality
bronchus	UBERON:0002185	72.31	gold quality
right coronary artery	UBERON:0001625	72.30	gold quality
body of uterus	UBERON:0009853	72.27	gold quality
right adrenal gland	UBERON:0001233	72.21	gold quality
pituitary gland	UBERON:0000007	72.05	gold quality
descending thoracic aorta	UBERON:0002345	71.77	gold quality
right adrenal gland cortex	UBERON:0035827	71.57	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.41

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

54 targeting ZNF607, 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-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-335-3P	99.93	73.36	4958
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-182-5P	99.87	74.03	2589
HSA-MIR-383-3P	99.85	65.84	1359
HSA-MIR-6844	99.82	70.69	2423
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-7154-5P	99.69	70.52	1900
HSA-MIR-6516-3P	99.65	68.57	1238
HSA-MIR-1303	99.65	69.77	1662
HSA-MIR-7152-5P	99.60	69.33	2094
HSA-MIR-4276	99.56	67.66	2514
HSA-MIR-217-5P	99.49	69.93	1419
HSA-MIR-6740-3P	99.48	68.49	1392
HSA-MIR-766-3P	99.47	65.24	1811
HSA-MIR-548AV-3P	99.43	68.50	1721
HSA-MIR-2115-3P	99.31	69.68	2026

Cross-species orthologs

0 orthologs

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 607 — Q96SK3 (reviewed: Q96SK3)

All UniProt accessions (4): Q96SK3, K7ELX6, K7EN48, K7ESQ1

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 (3)

UniProt ID	Names	Canonical?
Q96SK3-1	1	yes
Q96SK3-2	2
Q96SK3-3	3

RefSeq proteins (3): NP_001166148, NP_001362824, NP_116078* (*=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
IPR050752	C2H2-ZF_domain	Family

Pfam: PF00096, PF01352

UniProt features (32 total): zinc finger region 20, sequence variant 7, splice variant 2, chain 1, domain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96SK3-F1	77.96	0.07

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway

MSigDB gene sets: 47 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, AGGAAGC_MIR5163P, WANG_CLIM2_TARGETS_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, CACCAGC_MIR138, ATGCTGG_MIR338, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, GTGTGAG_MIR342, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, MIKKELSEN_ES_ICP_WITH_H3K4ME3, MIKKELSEN_NPC_ICP_WITH_H3K4ME3, VANOEVELEN_MYOGENESIS_SIN3A_TARGETS, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, RYBP_TARGET_GENES, ZNF213_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 (6): 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), 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
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
binding	1
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

358 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF607	ATXN1	P54253	485
ZNF607	PRR19	A6NJB7	471
ZNF607	TMEM164	Q5U3C3	407
ZNF607	ANKRD13B	Q86YJ7	406
ZNF607	ZNRD2	O60232	390
ZNF607	ZDHHC19	Q8WVZ1	376
ZNF607	SP140L	Q9H930	367
ZNF607	GXYLT2	A0PJZ3	353
ZNF607	POGLUT2	Q6UW63	348
ZNF607	SGPP2	Q8IWX5	333
ZNF607	ALDH16A1	Q8IZ83	330
ZNF607	XXYLT1	Q8NBI6	328
ZNF607	INO80E	Q8NBZ0	322
ZNF607	ADAMTS10	Q9H324	322
ZNF607	TCL1A	P56279	320

IntAct

15 interactions, top by confidence:

A	B	Type	Score
ZNF607	MDFI	psi-mi:“MI:0915”(physical association)	0.670
MDFI	ZNF607	psi-mi:“MI:0915”(physical association)	0.670
ZNF607	MTUS2	psi-mi:“MI:0915”(physical association)	0.560
MTUS2	ZNF607	psi-mi:“MI:0915”(physical association)	0.560
TRIM28	ZNF316	psi-mi:“MI:0914”(association)	0.530
ZNF607	SF3A1	psi-mi:“MI:0915”(physical association)	0.400
CEP70	ZNF607	psi-mi:“MI:0915”(physical association)	0.370
LTBP2	ZNF320	psi-mi:“MI:0914”(association)	0.350
MYOD1	BCL9	psi-mi:“MI:2364”(proximity)	0.270
PAX6	SMCHD1	psi-mi:“MI:2364”(proximity)	0.270
NDEL1	ZNF607	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (16): ZNF607 (Two-hybrid), ZNF607 (Two-hybrid), ZNF607 (Two-hybrid), ZNF607 (Two-hybrid), ZNF607 (Two-hybrid), ZNF607 (Negative Genetic), ZNF607 (Synthetic Lethality), ZNF607 (Proximity Label-MS), ZNF607 (Proximity Label-MS), ZNF607 (Affinity Capture-MS), ZNF607 (Proximity Label-MS), ZNF607 (Proximity Label-MS), ZNF607 (Affinity Capture-MS), ZNF607 (Affinity Capture-MS), ANKRD26 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A6NK75, C9JN71, O75820, O94892, P08043, P0CJ79, P16415, P17017, P17021, P17035, P17039, P35789, P52737, Q08AN1, Q3KP31, Q3ZCX4, Q4R4C7, Q52M93, Q5MCW4, Q5R9F0, Q5RB30, Q5RDX1, Q5REA0, Q5REI6, Q5REK1, Q6P3V2, Q6ZN19, Q6ZNA1, Q6ZNG1, Q76KX8, Q80W31, Q86T29, Q86YE8, Q8C827, Q8N4W9, Q8N7K0, Q8NB50, Q8NDQ6, Q8NEP9, Q8TBZ8

Diamond homologs: A2A761, A2VDP4, A3KN32, A6QLU5, A6QPT6, A7MBI1, A8MT65, B4DU55, E9PYI1, O60765, O95780, P15622, P17014, P17032, P17098, P21506, P51508, P51814, P52736, P52738, P52742, Q02975, Q06730, Q06732, Q0VCB0, Q14587, Q16587, Q2KI58, Q2M3W8, Q3V080, Q49AA0, Q4R6C2, Q4V8A8, Q571J5, Q5HYK9, Q5JUW0, Q5JVG2, Q5MCW4, Q5MYW4, Q5R4K8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	105
Likely benign	5
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1108 predictions. Top by Δscore:

Variant	Effect	Δscore
19:37709734:T:TA	donor_gain	1.0000
19:37711608:A:AC	donor_gain	1.0000
19:37711609:C:CC	donor_gain	1.0000
19:37699896:C:CC	acceptor_gain	0.9900
19:37708014:T:C	acceptor_gain	0.9900
19:37709689:AACAT:A	donor_loss	0.9900
19:37709690:ACAT:A	donor_loss	0.9900
19:37709690:ACATA:A	donor_loss	0.9900
19:37709691:CATA:C	donor_loss	0.9900
19:37709691:CATAC:C	donor_loss	0.9900
19:37709692:ATAC:A	donor_loss	0.9900
19:37709693:TACC:T	donor_loss	0.9900
19:37709694:A:AC	donor_gain	0.9900
19:37709695:C:CC	donor_gain	0.9900
19:37709819:ATCCC:A	acceptor_loss	0.9900
19:37709820:TCCCT:T	acceptor_loss	0.9900
19:37709821:CCCT:C	acceptor_loss	0.9900
19:37709822:CCTGA:C	acceptor_loss	0.9900
19:37709823:C:CA	acceptor_loss	0.9900
19:37709824:T:C	acceptor_loss	0.9900
19:37709824:TGAAA:T	acceptor_loss	0.9900
19:37711604:ACT:A	donor_loss	0.9900
19:37711605:CT:C	donor_loss	0.9900
19:37711606:T:TG	donor_loss	0.9900
19:37711607:TAC:T	donor_loss	0.9900
19:37711607:TACA:T	donor_loss	0.9900
19:37711608:ACA:A	donor_loss	0.9900
19:37711609:C:CA	donor_loss	0.9900
19:37711609:CA:C	donor_gain	0.9900
19:37711609:CAT:C	donor_gain	0.9900

AlphaMissense

4705 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:37698673:A:C	F486L	0.998
19:37698673:A:T	F486L	0.998
19:37698675:A:G	F486L	0.998
19:37698841:G:C	F430L	0.997
19:37698841:G:T	F430L	0.997
19:37698843:A:G	F430L	0.997
19:37698589:A:C	F514L	0.996
19:37698589:A:T	F514L	0.996
19:37698591:A:G	F514L	0.996
19:37698656:A:G	L492P	0.995
19:37698757:A:C	F458L	0.995
19:37698757:A:T	F458L	0.995
19:37698759:A:G	F458L	0.995
19:37698925:A:C	F402L	0.994
19:37698925:A:T	F402L	0.994
19:37698927:A:G	F402L	0.994
19:37698674:A:G	F486S	0.993
19:37698505:A:C	F542L	0.992
19:37698505:A:T	F542L	0.992
19:37698507:A:G	F542L	0.992
19:37698421:A:C	F570L	0.991
19:37698421:A:T	F570L	0.991
19:37698423:A:G	F570L	0.991
19:37698562:A:C	H523Q	0.991
19:37698562:A:T	H523Q	0.991
19:37698572:A:G	L520P	0.991
19:37699009:A:C	F374L	0.991
19:37699009:A:T	F374L	0.991
19:37699011:A:G	F374L	0.991
19:37699261:A:C	F290L	0.990

dbSNP variants (sampled 300 via entrez): RS1000015421 (19:37707644 G>C), RS1000033135 (19:37717639 T>A,C), RS1000039084 (19:37717535 C>A), RS1000343345 (19:37705270 T>C), RS1000486567 (19:37720503 A>C), RS1000513324 (19:37701490 A>G), RS1000624817 (19:37714460 G>A), RS1000644762 (19:37715862 T>C), RS1000859701 (19:37697152 T>C), RS1000963801 (19:37696327 C>A), RS1000985465 (19:37708886 G>A), RS1001016709 (19:37716233 CAAAT>C), RS1001115398 (19:37709621 C>G,T), RS1001118350 (19:37702905 G>T), RS1001237007 (19:37703192 G>A,C)

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
GCST010002_55	Refractive error	7.000000e-09

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, increases expression, decreases expression	2
Benzo(a)pyrene	increases methylation, increases mutagenesis	2
GSK-J4	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
cobaltous chloride	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
abrine	decreases expression	1
Sunitinib	increases expression	1
Leflunomide	decreases expression	1
Arsenic	increases abundance, increases expression	1
Oxygen	decreases expression	1
Sodium Dodecyl Sulfate	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases methylation	1
Antirheumatic Agents	increases expression	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	decreases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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