ZNF83

Summary

ZNF83 (zinc finger protein 83, HGNC:13158) is a protein-coding gene on chromosome 19q13.41, encoding Zinc finger protein 83 (P51522). 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 nucleus.

Source: NCBI Gene 55769 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 13 total
• MANE Select transcript: NM_018300

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13158
Approved symbol	ZNF83
Name	zinc finger protein 83
Location	19q13.41
Locus type	gene with protein product
Status	Approved
Aliases	FLJ11015, HPF1
Ensembl gene	ENSG00000167766
Ensembl biotype	protein_coding
OMIM	194558
Entrez	55769

Gene structure

Transcript identifiers

Ensembl transcripts: 23 — 18 protein_coding, 3 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000301096, ENST00000536937, ENST00000541777, ENST00000545872, ENST00000595939, ENST00000596930, ENST00000597161, ENST00000597597, ENST00000601140, ENST00000601237, ENST00000706199, ENST00000899770, ENST00000899771, ENST00000899772, ENST00000899773, ENST00000899774, ENST00000899775, ENST00000929646, ENST00000929647, ENST00000929648, ENST00000958732, ENST00000958733, ENST00000958734

RefSeq mRNA: 17 — MANE Select: NM_018300 NM_001105549, NM_001105550, NM_001105551, NM_001105552, NM_001277945, NM_001277946, NM_001277947, NM_001277948, NM_001277949, NM_001277951, NM_001277952, NM_001348015, NM_001348016, NM_001348017, NM_001348018, NM_001348019, NM_018300

CCDS: CCDS12854

Canonical transcript exons

ENST00000301096 — 3 exons

Exon	Start	End
ENSE00002991343	52612377	52614797
ENSE00003119419	52638312	52638355
ENSE00003610235	52635066	52635153

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 99.42.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.9684 / max 328.5775, expressed in 1770 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
182527	11.0504	1686
182523	7.7982	1684
182526	0.1198	37

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	99.42	gold quality
left ovary	UBERON:0002119	98.05	gold quality
cerebellar hemisphere	UBERON:0002245	97.74	gold quality
right hemisphere of cerebellum	UBERON:0014890	97.70	gold quality
endocervix	UBERON:0000458	97.68	gold quality
cerebellar cortex	UBERON:0002129	97.66	gold quality
right ovary	UBERON:0002118	97.61	gold quality
adenohypophysis	UBERON:0002196	97.43	gold quality
nerve	UBERON:0001021	97.06	gold quality
tibial nerve	UBERON:0001323	97.06	gold quality
adrenal tissue	UBERON:0018303	97.03	gold quality
body of uterus	UBERON:0009853	96.99	gold quality
metanephros cortex	UBERON:0010533	96.87	gold quality
left lobe of thyroid gland	UBERON:0001120	96.80	gold quality
left uterine tube	UBERON:0001303	96.77	gold quality
pituitary gland	UBERON:0000007	96.68	gold quality
ectocervix	UBERON:0012249	96.56	gold quality
cerebellum	UBERON:0002037	96.46	gold quality
thyroid gland	UBERON:0002046	96.40	gold quality
ascending aorta	UBERON:0001496	96.38	gold quality
thoracic aorta	UBERON:0001515	96.30	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	96.28	gold quality
right lobe of thyroid gland	UBERON:0001119	96.26	gold quality
descending thoracic aorta	UBERON:0002345	96.19	gold quality
lower esophagus muscularis layer	UBERON:0035833	96.11	gold quality
lower esophagus	UBERON:0013473	96.09	gold quality
seminal vesicle	UBERON:0000998	96.01	gold quality
muscle layer of sigmoid colon	UBERON:0035805	95.99	gold quality
nucleus accumbens	UBERON:0001882	95.97	gold quality
sural nerve	UBERON:0015488	95.92	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.46
E-MTAB-7381	no	567.24

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F6

miRNA regulators (miRDB)

45 targeting ZNF83, 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-3925-3P	100.00	69.95	1237
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-3613-3P	100.00	76.36	7965
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-1229-3P	99.97	66.49	906
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-221-3P	99.86	71.56	1329
HSA-MIR-222-3P	99.86	71.35	1337
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-4320	99.75	65.80	793
HSA-MIR-518A-5P	99.70	69.01	2209
HSA-MIR-527	99.70	69.01	2209
HSA-MIR-7154-5P	99.69	70.52	1900
HSA-MIR-29B-2-5P	99.67	68.98	1726
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-4743-3P	99.62	68.12	2095
HSA-MIR-297	99.40	69.58	1418
HSA-MIR-155-5P	99.35	70.16	1509
HSA-MIR-4528	99.18	69.77	1936
HSA-MIR-661	99.09	65.94	2062

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 83 — P51522 (reviewed: P51522)

Alternative names: Zinc finger protein 816B, Zinc finger protein HPF1

All UniProt accessions (4): A0A994J813, P51522, L0R8M2, M0R3A5

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?
P51522-1	1	yes
P51522-2	2

RefSeq proteins (17): NP_001099019, NP_001099020, NP_001099021, NP_001099022, NP_001264874, NP_001264875, NP_001264876, NP_001264877, NP_001264878, NP_001264880, NP_001264881, NP_001334944, NP_001334945, NP_001334946, NP_001334947, NP_001334948, NP_060770* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily

Pfam: PF00096

UniProt features (24 total): zinc finger region 15, sequence variant 4, sequence conflict 2, chain 1, region of interest 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P51522-F1	75.77	0.37

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 196 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, XU_GH1_AUTOCRINE_TARGETS_UP, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_REGULATION_OF_TRANSFERASE_ACTIVITY, GOLDRATH_ANTIGEN_RESPONSE, MODULE_205, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_DNA_DAMAGE_RESPONSE, BOYAULT_LIVER_CANCER_SUBCLASS_G1_UP, MARKEY_RB1_ACUTE_LOF_UP, ACEVEDO_LIVER_CANCER_UP

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 (2): nuclear lumen (GO:0031981), 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
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
nucleus	1
intracellular organelle lumen	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

550 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF83	SS18	Q15532	766
ZNF83	SSX1	Q16384	760
ZNF83	SSX5	O60225	687
ZNF83	SSX3	Q99909	641
ZNF83	SSX4	O60224	639
ZNF83	Q9HB66	Q9HB66	367
ZNF83	MAPDA	Q6DHV7	344
ZNF83	RBM14	Q96PK6	323
ZNF83	VSIG10L	Q86VR7	311
ZNF83	MTFR1L	Q9H019	307
ZNF83	ANKRD36B	Q8N2N9	297
ZNF83	DPY19L4	Q7Z388	296
ZNF83	TMEM141	Q96I45	291
ZNF83	POU2AF2	Q8IXP5	290
ZNF83	UBTD1	Q9HAC8	272

IntAct

7 interactions, top by confidence:

A	B	Type	Score
PCNA	ZNF83	psi-mi:“MI:0915”(physical association)	0.370
SMAD3	ZNF83	psi-mi:“MI:0915”(physical association)	0.370
ZNF83	SMAD9	psi-mi:“MI:0915”(physical association)	0.370
	ZNF83	psi-mi:“MI:0915”(physical association)	0.370
ZNF83	PAK1	psi-mi:“MI:0915”(physical association)	0.000
RBM11	ZNF83	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (14): ZNF83 (Two-hybrid), ZNF83 (Two-hybrid), ZNF83 (Affinity Capture-RNA), ZNF83 (Affinity Capture-Western), PARP1 (Affinity Capture-Western), SIRT6 (Affinity Capture-Western), ZNF83 (Affinity Capture-MS), ZNF83 (Affinity Capture-MS), ZNF83 (Two-hybrid), ZNF83 (Co-crystal Structure), ZNF83 (Affinity Capture-RNA), ZNF83 (Two-hybrid), ZNF83 (Two-hybrid), ZNF83 (Two-hybrid)

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, A2RRD8, A2VDQ7, A6NHJ4, A6NK75, A6NN14, A6NNF4, A6NP11, A8MTY0, A8MUV8, B4DX44, B4DXR9, E9PW05, O14628, O43345, O75290, O75346, O75373, O75437, O95780, P0CB33, P0CJ79, P0DKX0, P10755, P16373, P16374, P17019, P17035, P17038, P35789, P51522, P52738, Q03923, Q03936, Q03938, Q05481, Q08AN1, Q09FC8, Q0VGE8, Q14586

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	1
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2328 predictions. Top by Δscore:

Variant	Effect	Δscore
4:169731702:A:AC	donor_gain	1.0000
4:169731703:C:CC	donor_gain	1.0000
4:169731795:T:A	donor_gain	1.0000
4:169731877:C:CC	acceptor_gain	1.0000
4:169737659:CCAT:C	donor_gain	1.0000
4:169741955:A:AC	donor_gain	1.0000
4:169741956:C:CC	donor_gain	1.0000
4:169741956:CTTT:C	donor_gain	1.0000
4:169741964:T:C	donor_gain	1.0000
4:169748742:A:AC	donor_gain	1.0000
4:169748743:C:CC	donor_gain	1.0000
4:169748743:CTTGA:C	donor_gain	1.0000
4:169748841:CCCTG:C	acceptor_gain	1.0000
4:169748842:CCTG:C	acceptor_gain	1.0000
4:169753671:CTCA:C	donor_loss	1.0000
4:169753672:TCACC:T	donor_loss	1.0000
4:169753673:CAC:C	donor_loss	1.0000
4:169753674:A:AC	donor_gain	1.0000
4:169753674:A:T	donor_loss	1.0000
4:169753674:AC:A	donor_gain	1.0000
4:169753675:C:CC	donor_gain	1.0000
4:169753675:C:CG	donor_loss	1.0000
4:169753675:CC:C	donor_gain	1.0000
4:169753675:CCAG:C	donor_gain	1.0000
4:169753831:TCACA:T	acceptor_gain	1.0000
4:169753832:CACA:C	acceptor_gain	1.0000
4:169753832:CACAC:C	acceptor_gain	1.0000
4:169753833:ACA:A	acceptor_gain	1.0000
4:169753834:CA:C	acceptor_gain	1.0000
4:169753834:CAC:C	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000090982 (19:52678336 G>A,C), RS1000098586 (19:52636631 C>G), RS1000100306 (19:52676667 G>A), RS1000186576 (19:52660804 G>A), RS1000216683 (19:52625794 C>T), RS1000256325 (19:52660492 C>G), RS1000274483 (19:52678775 A>T), RS1000310200 (19:52622143 C>A,G), RS1000332338 (19:52672912 G>C), RS1000338667 (19:52665912 C>G), RS1000410968 (19:52627134 T>A,G), RS1000444539 (19:52642170 G>C), RS1000522140 (19:52661622 C>T), RS1000527490 (19:52623224 C>A), RS1000596969 (19:52621838 C>A,T)

Disease associations

OMIM: gene MIM:194558 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

45 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects expression, decreases methylation, affects cotreatment	7
sodium arsenite	decreases expression, increases abundance, increases expression	4
Air Pollutants	affects cotreatment, increases abundance, increases expression	2
Arsenic	increases abundance, increases expression, decreases expression	2
Cyclosporine	decreases expression, increases expression	2
Aflatoxin B1	increases methylation	2
triphenyl phosphate	affects expression	1
alpha-pinene	increases expression, increases abundance, affects cotreatment	1
sodium arsenate	increases abundance, increases expression	1
trichostatin A	increases expression	1
benzo(e)pyrene	decreases methylation	1
potassium chromate(VI)	increases expression	1
hydroquinone	increases expression	1
cadmium sulfate	increases expression	1
methacrylaldehyde	increases abundance, affects cotreatment, increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
pentabromodiphenyl ether	decreases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
ICG 001	increases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	affects cotreatment, increases expression	1
dorsomorphin	increases expression, affects cotreatment	1
NSC 689534	affects binding, increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	increases expression	1
Sunitinib	decreases expression	1
Acetaminophen	increases expression	1
Acrolein	affects cotreatment, increases expression, increases abundance	1
Benzo(a)pyrene	increases methylation	1
Copper	affects binding, increases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D7J2	Ubigene 786-O ZNF83 KO	Cancer cell line	Male
CVCL_HA10	K562 eGFP-ZNF83	Cancer cell line	Female

Clinical trials (associated diseases)

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