ZNF595

Summary

ZNF595 (zinc finger protein 595, HGNC:27196) is a protein-coding gene on chromosome 4p16.3, encoding Zinc finger protein 595 (Q8IYB9). May be involved in transcriptional regulation.

This gene encodes a protein belonging to the Cys2His2 zinc finger protein family, whose members function as transcription factors that can regulate a broad variety of developmental and cellular processes. Alternative splicing of this gene results in multiple transcript variants.

Source: NCBI Gene 152687 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 48 total
• MANE Select transcript: NM_182524

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27196
Approved symbol	ZNF595
Name	zinc finger protein 595
Location	4p16.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ31740
Ensembl gene	ENSG00000272602
Ensembl biotype	protein_coding
Entrez	152687

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 retained_intron

ENST00000502981, ENST00000509152, ENST00000608255, ENST00000609518, ENST00000610261

RefSeq mRNA: 4 — MANE Select: NM_182524 NM_001286052, NM_001286053, NM_001286054, NM_182524

CCDS: CCDS75075, CCDS75076, CCDS75077

Canonical transcript exons

ENST00000610261 — 4 exons

Exon	Start	End
ENSE00003703435	53321	53491
ENSE00003710283	85731	88208
ENSE00003714636	59430	59556
ENSE00003729457	60058	60153

Expression profiles

Bgee: expression breadth ubiquitous, 138 present calls, max score 95.44.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.6990 / max 1412.7339, expressed in 1619 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
46474	21.6677	1617
46475	0.0314	7

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
placenta	UBERON:0001987	95.44	gold quality
thymus	UBERON:0002370	91.47	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.90	gold quality
calcaneal tendon	UBERON:0003701	86.86	gold quality
smooth muscle tissue	UBERON:0001135	83.55	gold quality
tonsil	UBERON:0002372	83.45	gold quality
colonic epithelium	UBERON:0000397	83.28	gold quality
ovary	UBERON:0000992	83.20	gold quality
left ovary	UBERON:0002119	83.17	gold quality
granulocyte	CL:0000094	82.98	gold quality
body of pancreas	UBERON:0001150	82.96	gold quality
corpus callosum	UBERON:0002336	82.49	gold quality
ganglionic eminence	UBERON:0004023	82.31	gold quality
endometrium	UBERON:0001295	82.22	gold quality
pancreas	UBERON:0001264	82.13	gold quality
cortical plate	UBERON:0005343	82.06	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.00	gold quality
ventricular zone	UBERON:0003053	81.85	gold quality
right ovary	UBERON:0002118	81.51	gold quality
bone marrow cell	CL:0002092	81.25	gold quality
uterine cervix	UBERON:0000002	80.90	gold quality
thoracic mammary gland	UBERON:0005200	80.90	gold quality
lymph node	UBERON:0000029	80.86	gold quality
bone marrow	UBERON:0002371	80.57	gold quality
islet of Langerhans	UBERON:0000006	80.55	gold quality
lower esophagus mucosa	UBERON:0035834	80.50	gold quality
quadriceps femoris	UBERON:0001377	80.42	gold quality
hindlimb stylopod muscle	UBERON:0004252	80.42	gold quality
endocervix	UBERON:0000458	80.39	gold quality
muscle tissue	UBERON:0002385	80.21	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.54

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

56 targeting ZNF595, 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-5692A	100.00	74.40	6850
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-221-3P	99.86	71.56	1329
HSA-MIR-222-3P	99.86	71.35	1337
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-8076	99.78	68.52	1170
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-1179	99.71	68.70	1040
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-1303	99.65	69.77	1662
HSA-MIR-6757-3P	99.63	66.88	1089
HSA-MIR-1827	99.63	68.57	3265

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 595 — Q8IYB9 (reviewed: Q8IYB9)

All UniProt accessions (4): A0A075B7G3, A0A075B7G4, E9PN20, Q8IYB9

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.

RefSeq proteins (4): NP_001272981, NP_001272982, NP_001272983, NP_872330* (*=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 (23 total): zinc finger region 18, sequence conflict 2, chain 1, domain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IYB9-F1	76.76	0.22

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway

MSigDB gene sets: 38 (showing top): chr4p16, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, ZHENG_BOUND_BY_FOXP3, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, MIKKELSEN_ES_ICP_WITH_H3K4ME3, MIKKELSEN_NPC_ICP_WITH_H3K4ME3, MARTENS_BOUND_BY_PML_RARA_FUSION, GOBP_NEGATIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, WAKABAYASHI_ADIPOGENESIS_PPARG_RXRA_BOUND_8D, KIM_MYCN_AMPLIFICATION_TARGETS_DN, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, CEBPZ_TARGET_GENES, MIR616_5P

GO Biological Process (3): 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)

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
regulation of transcription by RNA polymerase II	2
transcription by RNA polymerase II	2
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
negative regulation of DNA-templated transcription	1
regulation of DNA-templated transcription	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
transition metal ion binding	1
nucleic acid binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

328 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF595	THSD7B	Q9C0I4	582
ZNF595	ANKRD20A2P	Q5SQ80	579
ZNF595	FAM199X	Q6PEV8	522
ZNF595	FOXD4L5	Q5VV16	508
ZNF595	OR5L1	Q8NGL2	480
ZNF595	FOXD4L3	Q6VB84	450
ZNF595	DHX32	Q7L7V1	448
ZNF595	GCNT2	Q8N0V5	429
ZNF595	NIPA2	Q8N8Q9	417
ZNF595	KRTAP10-1	P60331	397
ZNF595	FRG2B	Q96QU4	396
ZNF595	SPOP	O43791	389
ZNF595	SCN11A	Q9UI33	384
ZNF595	PGBD2	Q6P3X8	379
ZNF595	OR5M11	Q96RB7	379

IntAct

7 interactions, top by confidence:

A	B	Type	Score
KRTAP10-6	ZNF595	psi-mi:“MI:0915”(physical association)	0.560
TRIM28	ZNF320	psi-mi:“MI:0914”(association)	0.530
ZNF595		psi-mi:“MI:0915”(physical association)	0.370
ZNF595	KRTAP10-6	psi-mi:“MI:0915”(physical association)	0.000
JUNB	ZNF595	psi-mi:“MI:0915”(physical association)	0.000

ESM2 similar proteins: A2VDQ7, A6NNF4, A8MQ14, A8MTY0, E9QAG8, O75290, O75373, P08043, P0CJ79, P10751, P17017, P17027, P17039, P35789, P51522, P51523, Q08AN1, Q14585, Q14587, Q3SYV7, Q3ZCX4, Q4R4C7, Q52M93, Q5MCW4, Q5R5U3, Q5R8X1, Q5R9F0, Q5SXM1, Q6ECI4, Q6JLC9, Q6P3V2, Q6P5C7, Q6ZN57, Q86UE3, Q86XN6, Q86YE8, Q8C827, Q8IYB9, Q8N4W9, Q8N7M2

Diamond homologs: 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, P52736, P52738, P52744, Q03923, Q03924, Q03936, Q03938, Q05481, Q14586, Q14593, Q14929, Q15928, Q3KNS6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	17
Likely benign	5
Benign	21

Top pathogenic / likely-pathogenic (0)

SpliceAI

737 predictions. Top by Δscore:

Variant	Effect	Δscore
4:59425:TTCA:T	acceptor_loss	0.9900
4:59426:TCAG:T	acceptor_loss	0.9900
4:59427:CA:C	acceptor_loss	0.9900
4:59428:A:AC	acceptor_loss	0.9900
4:59429:G:GT	acceptor_loss	0.9900
4:59553:CTGGG:C	donor_loss	0.9900
4:59554:TGGGT:T	donor_loss	0.9900
4:59555:GG:G	donor_gain	0.9900
4:59556:GG:G	donor_gain	0.9900
4:59557:G:GG	donor_gain	0.9900
4:59557:GTGAG:G	donor_loss	0.9900
4:59558:T:C	donor_loss	0.9900
4:59559:G:GG	donor_loss	0.9900
4:60150:CCAG:C	donor_loss	0.9900
4:60151:CAG:C	donor_loss	0.9900
4:60152:AG:A	donor_loss	0.9900
4:60153:GG:G	donor_loss	0.9900
4:60155:T:A	donor_loss	0.9900
4:85729:A:AG	acceptor_gain	0.9900
4:85730:G:GG	acceptor_gain	0.9900
4:85730:GCT:G	acceptor_gain	0.9900
4:85730:GCTAT:G	acceptor_gain	0.9900
4:59427:CAGGA:C	acceptor_gain	0.9800
4:59428:AGGAA:A	acceptor_gain	0.9800
4:59562:GA:G	donor_gain	0.9800
4:60053:AACAG:A	acceptor_loss	0.9800
4:60054:ACAG:A	acceptor_loss	0.9800
4:60055:CAGGT:C	acceptor_loss	0.9800
4:60056:AGGT:A	acceptor_loss	0.9800
4:85726:TTCA:T	acceptor_loss	0.9800

AlphaMissense

4309 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:86801:T:C	F433L	0.992
4:86803:T:A	F433L	0.992
4:86803:T:G	F433L	0.992
4:86297:T:C	F265L	0.991
4:86299:T:A	F265L	0.991
4:86299:T:G	F265L	0.991
4:86381:T:C	F293L	0.991
4:86383:T:A	F293L	0.991
4:86383:T:G	F293L	0.991
4:86885:T:C	F461L	0.991
4:86887:T:A	F461L	0.991
4:86887:T:G	F461L	0.991
4:86213:T:C	F237L	0.990
4:86215:T:A	F237L	0.990
4:86215:T:G	F237L	0.990
4:86465:T:C	F321L	0.990
4:86467:T:A	F321L	0.990
4:86467:T:G	F321L	0.990
4:86969:T:C	F489L	0.989
4:86971:C:A	F489L	0.989
4:86971:C:G	F489L	0.989
4:86717:T:C	F405L	0.988
4:86719:T:A	F405L	0.988
4:86719:T:G	F405L	0.988
4:87305:T:C	F601L	0.985
4:87307:C:A	F601L	0.985
4:87307:C:G	F601L	0.985
4:86633:T:C	F377L	0.982
4:86635:T:A	F377L	0.982
4:86635:T:G	F377L	0.982

dbSNP variants (sampled 300 via entrez): RS10000110 (4:53724 C>A,G,T), RS10001263 (4:74615 G>A,T), RS10001277 (4:74650 G>A,T), RS1000445975 (4:85070 G>A,C), RS1000526261 (4:79534 T>C), RS1000733743 (4:85289 C>T), RS1000799665 (4:73999 A>C,G), RS1001169837 (4:74154 A>T), RS10012284 (4:87244 T>A,G), RS1001303032 (4:59673 C>A), RS1001571108 (4:60730 G>A), RS1001615751 (4:85448 A>G), RS10016464 (4:71528 C>T), RS10017093 (4:62522 G>A), RS10017983 (4:87626 A>G,T)

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
GCST006609_5	Response to TNF inhibitor in rheumatoid arthritis (change in tender 28-joint count)	7.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004653	response to TNF antagonist
EFO:0005413	joint damage measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

14 total (human), top 14 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cadmium Chloride	decreases expression, increases expression	2
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
manganese chloride	increases abundance, increases expression	1
gadodiamide	increases expression	1
di-n-butylphosphoric acid	affects expression	1
pentabromodiphenyl ether	increases expression	1
abrine	decreases expression	1
Doxorubicin	decreases expression	1
Manganese	increases abundance, increases expression	1
Tretinoin	increases expression	1
Valproic Acid	decreases methylation	1
Aflatoxin M1	decreases expression	1
Particulate Matter	increases expression	1

Clinical trials (associated diseases)

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