ZNF283

Summary

ZNF283 (zinc finger protein 283, HGNC:13077) is a protein-coding gene on chromosome 19q13.31, encoding Zinc finger protein 283 (Q8N7M2). 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 284349 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 80 total
• MANE Select transcript: NM_181845

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13077
Approved symbol	ZNF283
Name	zinc finger protein 283
Location	19q13.31
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000167637
Ensembl biotype	protein_coding
Entrez	284349

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 6 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000324461, ENST00000586976, ENST00000588797, ENST00000588967, ENST00000590950, ENST00000591203, ENST00000593164, ENST00000593268, ENST00000618787, ENST00000650832

RefSeq mRNA: 2 — MANE Select: NM_181845 NM_001297752, NM_181845

CCDS: CCDS46097

Canonical transcript exons

ENST00000618787 — 7 exons

Exon	Start	End
ENSE00001344624	43828202	43828281
ENSE00001344627	43827321	43827444
ENSE00003481483	43835505	43835592
ENSE00003556242	43831318	43831381
ENSE00003751292	43846939	43852017
ENSE00003756669	43833505	43833626
ENSE00003784573	43837053	43837179

Expression profiles

Bgee: expression breadth ubiquitous, 176 present calls, max score 84.96.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.7884 / max 211.2955, expressed in 1526 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
176226	3.1083	1295
176227	1.6425	890
176225	0.9289	424
176228	0.0554	3
176231	0.0259	2
176229	0.0147	3
176230	0.0127	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	84.96	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.18	gold quality
colonic epithelium	UBERON:0000397	83.28	gold quality
cortical plate	UBERON:0005343	80.64	gold quality
calcaneal tendon	UBERON:0003701	80.44	gold quality
stromal cell of endometrium	CL:0002255	76.86	gold quality
right hemisphere of cerebellum	UBERON:0014890	76.07	gold quality
ganglionic eminence	UBERON:0004023	75.91	gold quality
cerebellar hemisphere	UBERON:0002245	75.81	gold quality
monocyte	CL:0000576	75.74	gold quality
cerebellar cortex	UBERON:0002129	75.73	gold quality
ventricular zone	UBERON:0003053	75.52	gold quality
rectum	UBERON:0001052	75.51	gold quality
leukocyte	CL:0000738	75.45	gold quality
islet of Langerhans	UBERON:0000006	74.69	gold quality
cerebellum	UBERON:0002037	74.12	gold quality
left ovary	UBERON:0002119	73.87	gold quality
gall bladder	UBERON:0002110	73.71	gold quality
smooth muscle tissue	UBERON:0001135	73.61	gold quality
bone marrow cell	CL:0002092	73.58	gold quality
apex of heart	UBERON:0002098	73.49	gold quality
right atrium auricular region	UBERON:0006631	73.42	gold quality
hindlimb stylopod muscle	UBERON:0004252	73.14	gold quality
right ovary	UBERON:0002118	73.06	gold quality
heart left ventricle	UBERON:0002084	73.04	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	72.97	gold quality
body of uterus	UBERON:0009853	72.97	gold quality
descending thoracic aorta	UBERON:0002345	72.64	gold quality
popliteal artery	UBERON:0002250	72.33	gold quality
lower esophagus	UBERON:0013473	72.32	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-MTAB-6379	no	62.63
E-ANND-3	no	5.85
E-MTAB-5061	no	1.75

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

20 targeting ZNF283, 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-4262	100.00	73.26	3931
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-451B	99.55	68.28	1380
HSA-MIR-513C-5P	99.50	68.42	1730
HSA-MIR-514B-5P	99.50	68.19	1766
HSA-MIR-580-5P	99.28	70.94	1776
HSA-MIR-5584-3P	99.23	68.79	1351
HSA-MIR-6768-3P	99.14	67.38	1319
HSA-MIR-6074	98.89	69.64	2187
HSA-MIR-302F	98.44	69.02	1776
HSA-MIR-4457	98.09	67.12	1274
HSA-MIR-1287-5P	96.80	65.30	743
HSA-MIR-382-5P	96.71	65.90	762

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 283 — Q8N7M2 (reviewed: Q8N7M2)

Alternative names: Zinc finger protein HZF19

All UniProt accessions (5): A0A494C0U8, Q8N7M2, K7EL69, K7ESH0, Q4G0N1

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in transcriptional regulation.

Subcellular location. Nucleus.

Tissue specificity. Detected in prostate, testis, and pancreas.

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

RefSeq proteins (2): NP_001284681, NP_862828* (*=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, PF13912

UniProt features (29 total): zinc finger region 15, sequence variant 5, sequence conflict 4, cross-link 3, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N7M2-F1	63.30	0.01

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 (3): 280, 476, 588

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 26 (showing top): GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, ZWANG_DOWN_BY_2ND_EGF_PULSE, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, H1_6_TARGET_GENES, RYBP_TARGET_GENES, ZBTB12_TARGET_GENES, ZNF577_TARGET_GENES, MIR4262, MIR3941, MIR6074, MIR514B_5P, MIR513C_5P, MANNO_MIDBRAIN_NEUROTYPES_HNBML5, MANNO_MIDBRAIN_NEUROTYPES_HNBGABA, AIZARANI_LIVER_C30_HEPATOCYTES_4

GO Biological Process (3): regulation of transcription by RNA polymerase II (GO:0006357), regulation of DNA-templated transcription (GO:0006355), negative regulation of macromolecule biosynthetic process (GO:0010558)

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)

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
macromolecule biosynthetic process	1
negative regulation of biosynthetic process	1
regulation of macromolecule biosynthetic process	1
negative regulation of macromolecule metabolic 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

460 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF283	EFCAB13	Q8IY85	382
ZNF283	ZNRF4	Q8WWF5	311
ZNF283	DYM	Q7RTS9	311
ZNF283	ZMIZ2	Q8NF64	310
ZNF283	SNX32	Q86XE0	294
ZNF283	KRT6C	P48666	275
ZNF283	ZFAND3	Q9H8U3	273
ZNF283	OR10S1	Q8NGN2	266
ZNF283	ZNF503	Q96F45	259
ZNF283	WDPCP	O95876	252
ZNF283	GINS3	Q9BRX5	246
ZNF283	DCLRE1B	Q9H816	246
ZNF283	POLR2F	P41584	233
ZNF283	POLR2L	P52436	223
ZNF283	UBTFL1	P0CB47	218

IntAct

3 interactions, top by confidence:

A	B	Type	Score
CBX3	KPNA4	psi-mi:“MI:0914”(association)	0.350
ZNF283	HSPA4L	psi-mi:“MI:0914”(association)	0.350

BioGRID (1): ZNF283 (Affinity Capture-MS)

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: A0A096LPI5, A6NIU2, A6NJG6, F2Z398, P0DTE4, P51957, Q09FC8, Q5H9K5, Q5T7P6, Q68CZ1, Q6B4Z3, Q6UX73, Q86U02, Q8IV13, Q8N7M2, Q8N9N2, Q8NDZ0, Q8NEM8, Q8TDM0, Q92918, Q96J02, Q96MD7, Q9BUA6, Q9NXG0, A0A1W2PQL4, A2RRD8, A2VDQ7, A6NHJ4, A6NK75, A6NN14, A6NNF4, A6NP11, B4DX44, B4DXR9, E9PW05, O14628, O43345, O75290, O75346, O75373

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	72
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1194 predictions. Top by Δscore:

Variant	Effect	Δscore
19:43828200:A:AG	acceptor_gain	1.0000
19:43828200:A:AT	acceptor_loss	1.0000
19:43828200:AGT:A	acceptor_gain	1.0000
19:43828201:G:GC	acceptor_gain	1.0000
19:43828201:GT:G	acceptor_gain	1.0000
19:43828201:GTG:G	acceptor_gain	1.0000
19:43828201:GTGC:G	acceptor_gain	1.0000
19:43828201:GTGCT:G	acceptor_gain	1.0000
19:43828277:TTCAG:T	donor_loss	1.0000
19:43828278:TCAG:T	donor_loss	1.0000
19:43828280:AG:A	donor_loss	1.0000
19:43828282:G:GA	donor_loss	1.0000
19:43828283:T:A	donor_loss	1.0000
19:43835590:GAT:G	donor_gain	1.0000
19:43835593:G:GG	donor_gain	1.0000
19:43827870:G:GT	donor_gain	0.9900
19:43827889:G:GT	donor_gain	0.9900
19:43827929:G:GT	donor_gain	0.9900
19:43827929:G:T	donor_gain	0.9900
19:43828199:CAGTG:C	acceptor_gain	0.9900
19:43828200:AGTGC:A	acceptor_gain	0.9900
19:43828277:TTC:T	donor_gain	0.9900
19:43828278:TCA:T	donor_gain	0.9900
19:43828279:CAG:C	donor_gain	0.9900
19:43831378:GCTG:G	donor_gain	0.9900
19:43835503:A:AG	acceptor_gain	0.9900
19:43835504:G:GA	acceptor_gain	0.9900
19:43835504:GTTCT:G	acceptor_gain	0.9900
19:43837047:TTTTA:T	acceptor_loss	0.9900
19:43837048:TTTA:T	acceptor_loss	0.9900

AlphaMissense

4558 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:43847835:T:C	F412L	0.997
19:43847837:T:A	F412L	0.997
19:43847837:T:G	F412L	0.997
19:43847919:T:C	F440L	0.997
19:43847921:T:A	F440L	0.997
19:43847921:T:G	F440L	0.997
19:43848255:T:C	F552L	0.997
19:43848257:T:A	F552L	0.997
19:43848257:T:G	F552L	0.997
19:43847667:T:C	F356L	0.996
19:43847669:C:A	F356L	0.996
19:43847669:C:G	F356L	0.996
19:43847751:T:C	F384L	0.995
19:43847753:T:A	F384L	0.995
19:43847753:T:G	F384L	0.995
19:43848003:T:C	F468L	0.995
19:43848005:T:A	F468L	0.995
19:43848005:T:G	F468L	0.995
19:43847499:T:C	F300L	0.994
19:43847501:T:A	F300L	0.994
19:43847501:T:G	F300L	0.994
19:43848171:T:C	F524L	0.994
19:43848173:T:A	F524L	0.994
19:43848173:T:G	F524L	0.994
19:43848274:T:C	L558P	0.992
19:43848339:T:C	F580L	0.992
19:43848341:C:A	F580L	0.992
19:43848341:C:G	F580L	0.992
19:43847686:T:C	L362P	0.990
19:43847770:T:C	L390P	0.990

dbSNP variants (sampled 300 via entrez): RS1000006143 (19:43833091 G>C,T), RS1000010560 (19:43838153 C>A,T), RS1000083483 (19:43837786 T>A), RS1000165739 (19:43843194 A>T), RS1000217692 (19:43842865 A>G), RS1000288894 (19:43830797 A>G), RS1000325039 (19:43835860 A>C,T), RS1000730363 (19:43829909 G>A), RS1000739837 (19:43829563 G>A), RS1001085093 (19:43836010 A>T), RS1001091970 (19:43843665 A>G), RS1001312395 (19:43843304 G>C), RS1001499519 (19:43836843 T>C), RS1001693412 (19:43839974 T>A), RS1001771281 (19:43836432 C>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
GCST001937_27	Breast cancer	2.000000e-10

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
TAK-243	increases sumoylation	1
urushiol	increases expression	1
triphenyl phosphate	affects expression	1
jinfukang	decreases expression	1
Arsenic Trioxide	increases expression	1
Benzo(a)pyrene	decreases methylation	1
Cadmium	increases abundance, increases expression	1
Formaldehyde	decreases expression	1
Hydrogen Peroxide	affects expression	1
Silicon Dioxide	increases expression	1
Urethane	decreases expression	1
Cyclosporine	increases expression	1
Cadmium Chloride	increases abundance, increases expression	1
Lactic Acid	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 induced pluripotent stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B5NP	PGPC3_75	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

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