ZNF771

Summary

ZNF771 (zinc finger protein 771, HGNC:29653) is a protein-coding gene on chromosome 16p11.2, encoding Zinc finger protein 771 (Q7L3S4). May be involved in transcriptional regulation.

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in nucleolus and nucleoplasm.

Source: NCBI Gene 51333 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 30 total
• MANE Select transcript: NM_001142305

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29653
Approved symbol	ZNF771
Name	zinc finger protein 771
Location	16p11.2
Locus type	gene with protein product
Status	Approved
Aliases	DSC43
Ensembl gene	ENSG00000179965
Ensembl biotype	protein_coding
Entrez	51333

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 9 protein_coding

ENST00000319296, ENST00000434417, ENST00000564550, ENST00000566625, ENST00000894013, ENST00000894014, ENST00000894015, ENST00000894016, ENST00000957651

RefSeq mRNA: 2 — MANE Select: NM_001142305 NM_001142305, NM_016643

CCDS: CCDS45460

Canonical transcript exons

ENST00000319296 — 3 exons

Exon	Start	End
ENSE00002578441	30407606	30407664
ENSE00002583804	30417555	30419414
ENSE00002643861	30408045	30408194

Expression profiles

Bgee: expression breadth ubiquitous, 165 present calls, max score 91.63.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.4910 / max 71.7681, expressed in 1678 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
153658	7.3912	1663
153657	0.9619	558
153656	0.1379	61

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	91.63	gold quality
anterior cingulate cortex	UBERON:0009835	85.25	gold quality
cingulate cortex	UBERON:0003027	85.16	gold quality
right frontal lobe	UBERON:0002810	84.40	gold quality
hindlimb stylopod muscle	UBERON:0004252	83.68	gold quality
nucleus accumbens	UBERON:0001882	83.21	gold quality
amygdala	UBERON:0001876	82.96	gold quality
putamen	UBERON:0001874	82.88	gold quality
Brodmann (1909) area 9	UBERON:0013540	82.60	gold quality
caudate nucleus	UBERON:0001873	82.02	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	81.41	gold quality
right hemisphere of cerebellum	UBERON:0014890	80.95	gold quality
gastrocnemius	UBERON:0001388	80.78	gold quality
prefrontal cortex	UBERON:0000451	80.54	gold quality
lower esophagus muscularis layer	UBERON:0035833	80.51	gold quality
lower esophagus	UBERON:0013473	80.48	gold quality
right lobe of liver	UBERON:0001114	80.35	gold quality
body of uterus	UBERON:0009853	80.11	gold quality
neocortex	UBERON:0001950	79.97	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	79.74	gold quality
primary visual cortex	UBERON:0002436	79.70	gold quality
cerebellar cortex	UBERON:0002129	79.61	gold quality
left uterine tube	UBERON:0001303	79.57	gold quality
cerebellar hemisphere	UBERON:0002245	79.54	gold quality
triceps brachii	UBERON:0001509	79.51	gold quality
right ovary	UBERON:0002118	79.44	gold quality
muscle of leg	UBERON:0001383	79.37	gold quality
muscle layer of sigmoid colon	UBERON:0035805	79.28	gold quality
telencephalon	UBERON:0001893	79.05	gold quality
frontal cortex	UBERON:0001870	78.89	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-CURD-112	yes	9.25
E-ENAD-17	no	328.50
E-ANND-3	no	3.38

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

6 targeting ZNF771, 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-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-4713-5P	99.78	67.80	1794
HSA-MIR-661	99.09	65.94	2062

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio		ENSDARG00000104858
mus_musculus	Zfp771	ENSMUSG00000054716
rattus_norvegicus	Zfp771	ENSRNOG00000043225

Paralogs (36): ZNF302 (ENSG00000089335), ZNF184 (ENSG00000096654), CTCF (ENSG00000102974), ZNF574 (ENSG00000105732), ZBTB24 (ENSG00000112365), ZNF142 (ENSG00000115568), CTCFL (ENSG00000124092), ZNF473 (ENSG00000142528), ZNF827 (ENSG00000151612), ZNF689 (ENSG00000156853), ZNF208 (ENSG00000160321), ZNF91 (ENSG00000167232), ZNF526 (ENSG00000167625), ZNF764 (ENSG00000169951), ZNF747 (ENSG00000169955), ZNF282 (ENSG00000170265), ZNF160 (ENSG00000170949), ZNF497 (ENSG00000174586), ZBTB34 (ENSG00000177125), ZNF48 (ENSG00000180035), ZNF594 (ENSG00000180626), ZBTB37 (ENSG00000185278), ZFP92 (ENSG00000189420), ZNF107 (ENSG00000196247), ZNF729 (ENSG00000196350), ZNF569 (ENSG00000196437), ZNF420 (ENSG00000197050), ZNF785 (ENSG00000197162), ZNF665 (ENSG00000197497), ZNF181 (ENSG00000197841), ZNF347 (ENSG00000197937), ZNF84 (ENSG00000198040), ZBTB48 (ENSG00000204859), ZNF845 (ENSG00000213799), ZNF99 (ENSG00000213973), ZNF688 (ENSG00000229809)

Protein

Protein identifiers

Zinc finger protein 771 — Q7L3S4 (reviewed: Q7L3S4)

Alternative names: Mesenchymal stem cell protein DSC43

All UniProt accessions (3): Q7L3S4, H3BRY2, I3L3L5

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 (2): NP_001135777, NP_057727 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily

Pfam: PF00096

UniProt features (14 total): zinc finger region 8, compositionally biased region 2, chain 1, cross-link 1, sequence variant 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7L3S4-F1	81.42	0.58

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): 33

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway

MSigDB gene sets: 85 (showing top): AP1_01, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, USF_C, MYCMAX_01, chr16p11, TGANTCA_AP1_C, HIF1_Q3, NRF2_Q4, LEE_CALORIE_RESTRICTION_NEOCORTEX_UP, NFE2_01, AP1FJ_Q2, CP2_01, GOCC_NUCLEOLUS, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING

GO Biological Process (1): regulation of transcription by RNA polymerase II (GO:0006357)

GO Molecular Function (5): DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), zinc ion binding (GO:0008270), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), metal ion binding (GO:0046872)

GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730)

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
nuclear lumen	2
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
chromatin	1
RNA polymerase II transcription regulatory region sequence-specific DNA binding	1
DNA-binding transcription factor activity	1
regulation of transcription by RNA polymerase II	1
transition metal ion binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
nucleic acid binding	1
cation binding	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

468 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF771	RCOR3	Q9P2K3	470
ZNF771	LIMD2	Q9BT23	460
ZNF771	MALSU1	Q96EH3	437
ZNF771	ZNF593	O00488	403
ZNF771	QSER1	Q2KHR3	399
ZNF771	WSCD2	Q2TBF2	397
ZNF771	POC5	Q8NA72	380
ZNF771	CCDC85B	Q15834	377
ZNF771	EXOSC6	Q5RKV6	370
ZNF771	SMU1	Q2TAY7	367
ZNF771	ANKRD33B	A6NCL7	356
ZNF771	BAZ2B	Q9UIF8	321
ZNF771	ANKH	Q9HCJ1	301
ZNF771	MRPS30	Q9NP92	301
ZNF771	EIF3M	Q7L2H7	294
ZNF771	INTS1	Q8N201	294

IntAct

86 interactions, top by confidence:

A	B	Type	Score
H1-1	RRP8	psi-mi:“MI:0914”(association)	0.640
RPS14	CCZ1B	psi-mi:“MI:0914”(association)	0.640
NPM1	MPHOSPH10	psi-mi:“MI:0914”(association)	0.610
H1-6	ZNF724	psi-mi:“MI:0914”(association)	0.530
ZNF512	ZNF724	psi-mi:“MI:0914”(association)	0.530
ZNF2	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530
RPL18	NOP56	psi-mi:“MI:0914”(association)	0.530
PRR11	NVL	psi-mi:“MI:0914”(association)	0.530
RPL30	RRP8	psi-mi:“MI:0914”(association)	0.530
ZBTB48	ZBTB24	psi-mi:“MI:0914”(association)	0.530
RPL7	ZBTB24	psi-mi:“MI:0914”(association)	0.530
E4F1	ZBTB24	psi-mi:“MI:0914”(association)	0.530
PPAN	PPM1G	psi-mi:“MI:0914”(association)	0.530
RPS2	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530
H1-1	SURF6	psi-mi:“MI:0914”(association)	0.530
RPL11	NVL	psi-mi:“MI:0914”(association)	0.530
RPL19	ZBTB24	psi-mi:“MI:0914”(association)	0.530
RPL13A	NVL	psi-mi:“MI:0914”(association)	0.530
CBX6	ZBTB24	psi-mi:“MI:0914”(association)	0.530
ABT1	ZNF316	psi-mi:“MI:0914”(association)	0.530
NOTCH2	ZNF316	psi-mi:“MI:0914”(association)	0.530
PPAN	IGF2BP3	psi-mi:“MI:0914”(association)	0.350
DGCR8	MPHOSPH10	psi-mi:“MI:0914”(association)	0.350
CNBP	NOP56	psi-mi:“MI:0914”(association)	0.350
GPATCH4	NOP56	psi-mi:“MI:0914”(association)	0.350

BioGRID (84): ZNF771 (Affinity Capture-MS), ZNF771 (Affinity Capture-MS), ZNF771 (Affinity Capture-MS), ZNF771 (Affinity Capture-MS), ZNF771 (Affinity Capture-MS), ZNF771 (Affinity Capture-MS), ZNF771 (Affinity Capture-MS), ZNF771 (Affinity Capture-MS), ZNF771 (Affinity Capture-MS), ZNF771 (Affinity Capture-MS), ZNF771 (Affinity Capture-MS), ZNF771 (Affinity Capture-MS), ZNF771 (Affinity Capture-MS), ZNF771 (Affinity Capture-MS), ZNF771 (Affinity Capture-MS)

ESM2 similar proteins: A3KN32, A6NFI3, A6NM28, A8K8V0, O75467, O95201, P10075, P28698, P30373, P52736, Q07230, Q0VCC5, Q14929, Q16587, Q17QR7, Q3TDE8, Q3US17, Q499Z4, Q5RJR4, Q5T619, Q5TEC3, Q5U4E2, Q642B2, Q68H95, Q6AW86, Q6DD87, Q6PGE4, Q6ZMY9, Q6ZNH5, Q7L3S4, Q7Z7K2, Q8BI73, Q8BIF9, Q8BIQ3, Q8BJ90, Q8BKK5, Q8JZL0, Q8N393, Q8NCA9, Q96BV0

Diamond homologs: P18714, P18715, P18718, P18724, P18725, P18731, P18735, P18737, P18738, P18740, P18747, P52742, Q01611, Q02085, Q3MJ62, Q569E7, Q5TEC3, Q6A085, Q6DD87, Q7L3S4, Q7TNU6, Q8BIF9, Q8BJ90, Q9UC06, Q9UEG4, Q14929, Q9NW07, A2ANX9, A7Y7X5, O14771, O15391, O15535, O62836, O95125, P08048, P0CG23, P10925, P17010, P17012, P18712

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 85 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Peptide chain elongation	19	43.0×	3e-25
Viral mRNA Translation	19	43.0×	3e-25
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	19	42.6×	3e-25
Selenocysteine synthesis	19	40.8×	4e-25
Eukaryotic Translation Termination	19	40.8×	4e-25
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)	19	39.9×	5e-25
ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA	19	39.9×	5e-25
Formation of a pool of free 40S subunits	19	38.0×	1e-24

GO biological processes:

GO term	Partners	Fold	FDR
cytoplasmic translation	19	43.4×	4e-24
ribosomal large subunit biogenesis	7	38.3×	3e-08
translation	21	26.6×	2e-22
ribosomal small subunit biogenesis	9	25.3×	6e-09
rRNA processing	11	19.2×	1e-09

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	27
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

858 predictions. Top by Δscore:

Variant	Effect	Δscore
16:30408191:GGAG:G	donor_gain	1.0000
16:30408192:G:GT	donor_gain	1.0000
16:30408192:GAGGT:G	donor_loss	1.0000
16:30408193:AGG:A	donor_loss	1.0000
16:30408195:GT:G	donor_loss	1.0000
16:30408196:T:A	donor_loss	1.0000
16:30424530:CTGA:C	acceptor_gain	1.0000
16:30424531:TGA:T	acceptor_gain	1.0000
16:30424534:C:A	acceptor_loss	1.0000
16:30424534:C:CC	acceptor_gain	1.0000
16:30429081:T:TA	donor_gain	1.0000
16:30429082:C:A	donor_gain	1.0000
16:30429165:CGG:C	acceptor_gain	1.0000
16:30429168:C:CC	acceptor_gain	1.0000
16:30429874:GCTTA:G	donor_loss	1.0000
16:30429875:CTTA:C	donor_loss	1.0000
16:30429878:A:AC	donor_gain	1.0000
16:30429879:C:CT	donor_gain	1.0000
16:30429879:CATGT:C	donor_gain	1.0000
16:30407660:GGCTG:G	donor_gain	0.9900
16:30407661:GCTG:G	donor_gain	0.9900
16:30407661:GCTGG:G	donor_gain	0.9900
16:30408041:TCAG:T	acceptor_loss	0.9900
16:30408043:A:AG	acceptor_gain	0.9900
16:30408043:A:C	acceptor_loss	0.9900
16:30408044:G:GG	acceptor_gain	0.9900
16:30408192:GAG:G	donor_gain	0.9900
16:30408195:G:GG	donor_gain	0.9900
16:30417549:CCGCA:C	acceptor_loss	0.9900
16:30417550:CGCAG:C	acceptor_loss	0.9900

AlphaMissense

2050 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:30417627:T:C	F72L	0.999
16:30417629:C:A	F72L	0.999
16:30417629:C:G	F72L	0.999
16:30417711:T:C	F100L	0.999
16:30417713:C:A	F100L	0.999
16:30417713:C:G	F100L	0.999
16:30417795:T:C	F128L	0.999
16:30417797:C:A	F128L	0.999
16:30417797:C:G	F128L	0.999
16:30417879:T:C	F156L	0.999
16:30417881:C:A	F156L	0.999
16:30417881:C:G	F156L	0.999
16:30417656:C:A	H81Q	0.998
16:30417656:C:G	H81Q	0.998
16:30417684:T:C	F91L	0.998
16:30417686:C:A	F91L	0.998
16:30417686:C:G	F91L	0.998
16:30417908:C:A	H165Q	0.998
16:30417908:C:G	H165Q	0.998
16:30417963:T:C	F184L	0.998
16:30417965:T:A	F184L	0.998
16:30417965:T:G	F184L	0.998
16:30418131:T:C	F240L	0.998
16:30418133:C:A	F240L	0.998
16:30418133:C:G	F240L	0.998
16:30417654:C:A	H81N	0.997
16:30417668:C:A	H85Q	0.997
16:30417668:C:G	H85Q	0.997
16:30417712:T:C	F100S	0.997
16:30417796:T:C	F128S	0.997

dbSNP variants (sampled 300 via entrez): RS1000034393 (16:30407553 C>G), RS1000084996 (16:30418786 C>T), RS1000466592 (16:30407739 C>T), RS1000636564 (16:30411091 G>T), RS1000810747 (16:30417061 G>GC), RS1001223869 (16:30407365 G>C), RS1001382395 (16:30408616 C>G), RS1001438537 (16:30409405 T>C), RS1001654743 (16:30416659 C>T), RS1001832249 (16:30414626 A>C,G), RS1001833351 (16:30407747 G>A), RS1001990305 (16:30407499 T>A), RS1002094529 (16:30415249 C>T), RS1002185989 (16:30409970 T>C), RS1002383839 (16:30410250 G>A)

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
GCST008151_22	Waist circumference	7.000000e-06
GCST008160_6	Waist circumference	7.000000e-06

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
Benzo(a)pyrene	affects methylation, decreases expression, increases expression, increases methylation	3
Arsenic Trioxide	decreases expression	2
TAK-243	increases sumoylation	1
perfluorooctanoic acid	increases expression	1
di-n-butylphosphoric acid	affects expression	1
bisphenol B	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Amiodarone	increases expression	1
Arsenic	affects expression	1
Doxorubicin	decreases expression	1
Gallic Acid	increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Ribonucleotides	affects binding	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Valproic Acid	increases methylation	1
Antirheumatic Agents	increases expression	1
Okadaic Acid	decreases expression	1
Acrylamide	increases expression	1
Particulate Matter	increases expression	1

Clinical trials (associated diseases)

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