ZNF783

Summary

ZNF783 (zinc finger protein 783, HGNC:27222) is a protein-coding gene on chromosome 7q36.1, encoding Zinc finger protein 783 (Q6ZMS7). May be involved in transcriptional regulation.

Enables identical protein binding activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to be located in nucleus.

Source: NCBI Gene 100289678 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 137 total
• MANE Select transcript: NM_001195220

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27222
Approved symbol	ZNF783
Name	zinc finger protein 783
Location	7q36.1
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp667J212
Ensembl gene	ENSG00000204946
Ensembl biotype	protein_coding
Entrez	100289678

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 1 protein_coding

ENST00000378052, ENST00000434415, ENST00000476295, ENST00000481519, ENST00000489518

RefSeq mRNA: 1 — MANE Select: NM_001195220 NM_001195220

CCDS: CCDS56519

Canonical transcript exons

ENST00000434415 — 6 exons

Exon	Start	End
ENSE00001476044	149267097	149267222
ENSE00001476047	149266335	149266730
ENSE00001597583	149281505	149284988
ENSE00002516581	149266819	149266945
ENSE00003687381	149278399	149278527
ENSE00003841483	149262196	149262357

Expression profiles

Bgee: expression breadth ubiquitous, 232 present calls, max score 89.66.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.5231 / max 108.5483, expressed in 1756 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
81890	9.5231	1756

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pancreatic ductal cell	CL:0002079	89.66	silver quality
sural nerve	UBERON:0015488	89.64	gold quality
left uterine tube	UBERON:0001303	87.17	gold quality
left ovary	UBERON:0002119	86.92	gold quality
right ovary	UBERON:0002118	86.88	gold quality
granulocyte	CL:0000094	86.57	gold quality
type B pancreatic cell	CL:0000169	86.51	gold quality
body of uterus	UBERON:0009853	86.32	gold quality
right uterine tube	UBERON:0001302	86.28	gold quality
tibial nerve	UBERON:0001323	86.21	gold quality
olfactory bulb	UBERON:0002264	85.40	gold quality
right hemisphere of cerebellum	UBERON:0014890	85.01	gold quality
mucosa of stomach	UBERON:0001199	84.99	gold quality
endocervix	UBERON:0000458	84.74	gold quality
ovary	UBERON:0000992	84.51	gold quality
cerebellar hemisphere	UBERON:0002245	84.19	gold quality
lower esophagus muscularis layer	UBERON:0035833	84.13	gold quality
cerebellar cortex	UBERON:0002129	84.10	gold quality
lower esophagus	UBERON:0013473	84.08	gold quality
ectocervix	UBERON:0012249	83.89	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	83.83	gold quality
muscle layer of sigmoid colon	UBERON:0035805	83.75	gold quality
stromal cell of endometrium	CL:0002255	83.30	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.28	gold quality
cerebellum	UBERON:0002037	83.21	gold quality
vagina	UBERON:0000996	82.90	gold quality
right lobe of thyroid gland	UBERON:0001119	82.65	gold quality
gastrocnemius	UBERON:0001388	82.64	gold quality
spleen	UBERON:0002106	82.42	gold quality
popliteal artery	UBERON:0002250	82.33	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.71

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

94 targeting ZNF783, 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-8485	100.00	77.57	4731
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	znf574	ENSDARG00000087074
drosophila_melanogaster	CG11902	FBGN0028647
drosophila_melanogaster	CG11696	FBGN0030314
drosophila_melanogaster	CG10631	FBGN0032817

Paralogs (7): ZNF671 (ENSG00000083814), ZNF710 (ENSG00000140548), ZNF212 (ENSG00000170260), ZNF366 (ENSG00000178175), ZNF662 (ENSG00000182983), ZNF667 (ENSG00000198046), ZNF865 (ENSG00000261221)

Protein

Protein identifiers

Zinc finger protein 783 — Q6ZMS7 (reviewed: Q6ZMS7)

All UniProt accessions (1): Q6ZMS7

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in transcriptional regulation.

Subcellular location. Nucleus.

Miscellaneous. Gene prediction based on partial EST data. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6ZMS7-2	2	yes
Q6ZMS7-1	1

RefSeq proteins (1): NP_001182149* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001909	KRAB	Domain
IPR003655	aKRAB	Domain
IPR013087	Znf_C2H2_type	Domain
IPR036051	KRAB_dom_sf	Homologous_superfamily
IPR036236	Znf_C2H2_sf	Homologous_superfamily

Pfam: PF00096, PF01352

UniProt features (20 total): region of interest 5, zinc finger region 4, compositionally biased region 3, splice variant 2, initiator methionine 1, chain 1, coiled-coil region 1, modified residue 1, sequence variant 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZMS7-F1	57.55	0.02

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): 2

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 34 (showing top): WANG_CLIM2_TARGETS_UP, YAGI_AML_WITH_INV_16_TRANSLOCATION, MOLENAAR_TARGETS_OF_CCND1_AND_CDK4_UP, LIAO_METASTASIS, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, H1_6_TARGET_GENES, ZFHX3_TARGET_GENES, ZFP91_TARGET_GENES, ZNF350_TARGET_GENES, ZNF618_TARGET_GENES, ZNF660_TARGET_GENES, ZSCAN30_TARGET_GENES, ZSCAN31_TARGET_GENES, MIR3529_3P

GO Biological Process (1): regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (6): DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), identical protein binding (GO:0042802), protein binding (GO:0005515), 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
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
nucleic acid binding	1
transcription cis-regulatory region binding	1
regulation of DNA-templated transcription	1
transcription regulator activity	1
transition metal ion binding	1
protein binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

548 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF783	SAXO5	Q8NA69	480
ZNF783	C7orf33	Q8WU49	479
ZNF783	DRC11L	A6NCM1	475
ZNF783	A0A087WTJ2	A0A087WTJ2	439
ZNF783	ZBED10P	Q96FA7	419
ZNF783	LRRC61	Q9BV99	399
ZNF783	WDR86	Q86TI4	399
ZNF783	ZC3H10	Q96K80	323
ZNF783	CRYGN	Q8WXF5	317
ZNF783	RIMKLB	Q9ULI2	310
ZNF783	ZNF512B	Q96KM6	305
ZNF783	TMUB1	Q9BVT8	305
ZNF783	GIMAP2	Q9UG22	300
ZNF783	ATP6V0E2	Q8NHE4	292
ZNF783	CHPF2	Q9P2E5	289

IntAct

19 interactions, top by confidence:

A	B	Type	Score
ZNF783	ZNF398	psi-mi:“MI:0915”(physical association)	0.740
ZNF398	ZNF783	psi-mi:“MI:0915”(physical association)	0.740
ZNF783	ZNF212	psi-mi:“MI:0915”(physical association)	0.640
ZNF212	ZNF783	psi-mi:“MI:0915”(physical association)	0.640
ZNF783	PLAAT5	psi-mi:“MI:0915”(physical association)	0.560
PLAAT5	ZNF783	psi-mi:“MI:0915”(physical association)	0.560
ZNF398	LRP4	psi-mi:“MI:0914”(association)	0.530
ZNF783	ZNF783	psi-mi:“MI:0915”(physical association)	0.370
NOTCH2	ZNF320	psi-mi:“MI:0914”(association)	0.350
PNMA2	TARS3	psi-mi:“MI:0914”(association)	0.350
MRFAP1L1	MYO9A	psi-mi:“MI:0914”(association)	0.350
ZNF767P	ZMYM6	psi-mi:“MI:0914”(association)	0.350

BioGRID (13): ZNF783 (Affinity Capture-MS), ZNF783 (Affinity Capture-MS), ZNF783 (Affinity Capture-MS), ZNF783 (Two-hybrid), ZNF783 (Two-hybrid), ZNF783 (Two-hybrid), ZNF783 (Two-hybrid), ZNF783 (Two-hybrid), ZNF783 (Affinity Capture-MS), ZNF783 (Affinity Capture-MS), ZNF783 (Affinity Capture-MS), ZNF783 (Affinity Capture-MS), ZNF783 (Affinity Capture-MS)

ESM2 similar proteins: A1YEW3, A1YG31, A2T715, A2T7M0, A6NEV1, A6NGD5, A6NJL1, A6QPT6, A8MXV6, A8MZF0, A8WFF7, O08664, P03327, P06936, P0C6A0, P0DPQ3, P54257, P57086, P86478, P86479, P86480, P86481, P86496, Q13487, Q32PG5, Q505G4, Q5R7P6, Q68FX5, Q6J1H4, Q6NZN1, Q6ZMS7, Q6ZRT6, Q76NI1, Q7L3V2, Q7TPK6, Q7YR42, Q7Z6I6, Q80UE6, Q8IY33, Q8K2W9

Diamond homologs: A0JPL0, A2VDP4, A3KN32, A6NFI3, A6NM28, A6QLU5, B2RXC5, B4DU55, O43296, O60765, O75290, O75467, P10072, P15622, P17014, P17023, P17030, P17031, P17032, P17098, P21506, P51508, P51523, P52736, P52738, Q02975, Q06730, Q06732, Q14590, Q14929, Q16587, Q29RZ4, Q2TL60, Q3KNS6, Q3KQV3, Q49AA0, Q4R8H9, Q4V8A8, Q4V8E9, Q5FWF6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	120
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

904 predictions. Top by Δscore:

Variant	Effect	Δscore
7:149266326:T:A	acceptor_gain	1.0000
7:149266328:T:TA	acceptor_gain	1.0000
7:149266332:CA:C	acceptor_loss	1.0000
7:149266333:A:AG	acceptor_gain	1.0000
7:149266333:AG:A	acceptor_gain	1.0000
7:149266334:G:GT	acceptor_gain	1.0000
7:149266334:GG:G	acceptor_gain	1.0000
7:149266334:GGA:G	acceptor_gain	1.0000
7:149266334:GGAC:G	acceptor_gain	1.0000
7:149266334:GGACC:G	acceptor_gain	1.0000
7:149266679:G:GT	donor_gain	1.0000
7:149266680:A:T	donor_gain	1.0000
7:149266726:CCAAG:C	donor_loss	1.0000
7:149266727:CAAG:C	donor_loss	1.0000
7:149266728:AAGG:A	donor_loss	1.0000
7:149266729:AGGTA:A	donor_loss	1.0000
7:149266730:GGTAG:G	donor_loss	1.0000
7:149266731:GTAGC:G	donor_loss	1.0000
7:149266732:T:G	donor_loss	1.0000
7:149266813:TTCCA:T	acceptor_loss	1.0000
7:149266814:TCCAG:T	acceptor_loss	1.0000
7:149266815:CCAG:C	acceptor_loss	1.0000
7:149266816:CAGGT:C	acceptor_loss	1.0000
7:149266944:GG:G	donor_gain	1.0000
7:149266945:GG:G	donor_gain	1.0000
7:149266946:G:GG	donor_gain	1.0000
7:149262651:G:GT	donor_gain	0.9900
7:149262654:G:GG	donor_gain	0.9900
7:149266716:G:GT	donor_gain	0.9900
7:149266718:G:GT	donor_gain	0.9900

AlphaMissense

3523 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:149266831:T:C	F145L	0.989
7:149266833:C:A	F145L	0.989
7:149266833:C:G	F145L	0.989
7:149266890:G:C	Q164H	0.989
7:149266890:G:T	Q164H	0.989
7:149266852:T:C	F152L	0.985
7:149266854:C:A	F152L	0.985
7:149266854:C:G	F152L	0.985
7:149266869:G:C	W157C	0.982
7:149266869:G:T	W157C	0.982
7:149266455:G:C	A49P	0.980
7:149266853:T:C	F152S	0.980
7:149266898:T:C	L167P	0.979
7:149266682:C:A	N124K	0.977
7:149266682:C:G	N124K	0.977
7:149266893:G:C	K165N	0.977
7:149266893:G:T	K165N	0.977
7:149266900:T:G	Y168D	0.977
7:149266645:G:C	R112P	0.973
7:149266669:T:C	L120P	0.973
7:149266693:T:C	L128S	0.972
7:149266867:T:A	W157R	0.972
7:149266867:T:C	W157R	0.972
7:149266648:T:C	L113P	0.971
7:149266889:A:T	Q164L	0.967
7:149266923:C:A	N175K	0.965
7:149266923:C:G	N175K	0.965
7:149266636:T:C	L109P	0.961
7:149267097:A:T	D183V	0.960
7:149266660:A:T	E117V	0.958

dbSNP variants (sampled 300 via entrez): RS1000032478 (7:149276958 C>T), RS1000132327 (7:149265279 A>G), RS1000216556 (7:149274763 T>A), RS1000249337 (7:149274489 C>A), RS1000302203 (7:149284990 G>A,T), RS1000358906 (7:149263003 A>G), RS1000359410 (7:149263192 G>T), RS1000792191 (7:149262966 G>A), RS1000829500 (7:149268363 G>A), RS1000911824 (7:149264397 G>A), RS1001035246 (7:149273038 A>G,T), RS1001195888 (7:149269614 G>A), RS1001362536 (7:149262124 G>A,T), RS1001484436 (7:149273226 C>T), RS1001568403 (7:149283393 C>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

2 associations (top):

Study	Trait	p-value
GCST006979_219	Heel bone mineral density	4.000000e-10
GCST008362_114	Birth weight	5.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0009270	heel bone mineral density
EFO:0004344	birth weight

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
triphenyl phosphate	affects expression	1
2-butenal	decreases expression	1
beta-lapachone	decreases expression	1
sodium arsenite	decreases expression	1
ferrous chloride	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
abrine	increases expression	1
Leflunomide	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Estradiol	increases expression	1
Silicon Dioxide	decreases expression	1
Thiram	decreases expression	1
Acrylamide	decreases expression	1
Particulate Matter	increases expression, increases abundance	1

Clinical trials (associated diseases)

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