ZNF813

Summary

ZNF813 (zinc finger protein 813, HGNC:33257) is a protein-coding gene on chromosome 19q13.42, encoding Zinc finger protein 813 (Q6ZN06). 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 126017 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 123 total
• MANE Select transcript: NM_001004301

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33257
Approved symbol	ZNF813
Name	zinc finger protein 813
Location	19q13.42
Locus type	gene with protein product
Status	Approved
Aliases	FLJ16542
Ensembl gene	ENSG00000198346
Ensembl biotype	protein_coding
Entrez	126017

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000396403, ENST00000468450, ENST00000490956, ENST00000938054, ENST00000972183, ENST00000972184

RefSeq mRNA: 1 — MANE Select: NM_001004301 NM_001004301

CCDS: CCDS46172

Canonical transcript exons

ENST00000396403 — 4 exons

Exon	Start	End
ENSE00001524810	53490375	53496255
ENSE00002457745	53486632	53486758
ENSE00003626568	53483750	53483837
ENSE00003850374	53467733	53467789

Expression profiles

Bgee: expression breadth ubiquitous, 130 present calls, max score 80.09.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.1945 / max 87.8376, expressed in 1049 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
177327	2.1945	1049

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.09	gold quality
colonic epithelium	UBERON:0000397	75.05	gold quality
islet of Langerhans	UBERON:0000006	72.84	gold quality
ganglionic eminence	UBERON:0004023	71.97	gold quality
calcaneal tendon	UBERON:0003701	71.82	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	71.79	silver quality
placenta	UBERON:0001987	71.67	gold quality
ventricular zone	UBERON:0003053	71.56	gold quality
stromal cell of endometrium	CL:0002255	70.86	gold quality
endometrium	UBERON:0001295	69.73	gold quality
adrenal tissue	UBERON:0018303	69.70	gold quality
bone marrow cell	CL:0002092	69.16	gold quality
cortical plate	UBERON:0005343	68.02	gold quality
lymph node	UBERON:0000029	67.69	gold quality
leukocyte	CL:0000738	66.49	gold quality
urinary bladder	UBERON:0001255	66.26	gold quality
bone marrow	UBERON:0002371	66.26	gold quality
tonsil	UBERON:0002372	66.13	gold quality
monocyte	CL:0000576	66.04	gold quality
rectum	UBERON:0001052	65.93	gold quality
duodenum	UBERON:0002114	65.54	gold quality
granulocyte	CL:0000094	65.42	gold quality
prostate gland	UBERON:0002367	65.09	gold quality
pancreas	UBERON:0001264	64.47	gold quality
smooth muscle tissue	UBERON:0001135	64.38	gold quality
vermiform appendix	UBERON:0001154	64.33	gold quality
gall bladder	UBERON:0002110	62.86	gold quality
fallopian tube	UBERON:0003889	62.07	gold quality
adrenal gland	UBERON:0002369	61.91	gold quality
right adrenal gland cortex	UBERON:0035827	61.00	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-MTAB-6379	no	447.60
E-ANND-3	no	5.10

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

135 targeting ZNF813, 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-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-3134	100.00	66.43	777
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-12121	99.99	66.64	255
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4715-3P	99.98	66.03	670
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977

Cross-species orthologs

0 orthologs

Paralogs (11): ZNF761 (ENSG00000160336), ZNF701 (ENSG00000167562), ZNF816 (ENSG00000180257), ZNF766 (ENSG00000196214), ZNF765 (ENSG00000196417), ZNF860 (ENSG00000197385), ZNF525 (ENSG00000203326), ZNF468 (ENSG00000204604), ZNF888 (ENSG00000213793), ZNF578 (ENSG00000258405), (ENSG00000269825)

Protein

Protein identifiers

Zinc finger protein 813 — Q6ZN06 (reviewed: Q6ZN06)

All UniProt accessions (3): C9JZ01, E7EU70, Q6ZN06

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 (1): NP_001004301* (*=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 (22 total): zinc finger region 14, sequence variant 6, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZN06-F1	66.21	0.07

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 55 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, OKUMURA_INFLAMMATORY_RESPONSE_LPS, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, H1_6_TARGET_GENES, HAND1_TARGET_GENES, ZSCAN2_TARGET_GENES, MIR548E_5P, MIR1468_3P, MIR548N, MIR548P, MIR6809_3P, MIR450B_5P, MIR6833_3P, MIR6873_3P

GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), regulation of DNA-templated transcription (GO:0006355)

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
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

414 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF813	ZDHHC14	Q8IZN3	477
ZNF813	KAZN	Q674X7	477
ZNF813	ANTXRL	A6NF34	431
ZNF813	HOXB9	P17482	419
ZNF813	DHDH	Q9UQ10	377
ZNF813	BLNK	Q8WV28	368
ZNF813	GAL3ST3	Q96A11	349
ZNF813	FRRS1	Q6ZNA5	317
ZNF813	SH3RF3	Q8TEJ3	316
ZNF813	TMEM51	Q9NW97	311
ZNF813	FAHD1	Q6P587	305
ZNF813	METTL15	A6NJ78	300
ZNF813	ZYG11B	Q9C0D3	298
ZNF813	ENTPD6	O75354	272
ZNF813	CELF5	Q8N6W0	271

IntAct

15 interactions, top by confidence:

A	B	Type	Score
MAPK6	HERC2	psi-mi:“MI:0914”(association)	0.840
ZNF816	LRP4	psi-mi:“MI:0914”(association)	0.530
ZNF224	LRP4	psi-mi:“MI:0914”(association)	0.530
ZNF764	SH3PXD2B	psi-mi:“MI:0914”(association)	0.530
TRIM28	ZNF320	psi-mi:“MI:0914”(association)	0.530
ZNF324B	ZNF324	psi-mi:“MI:0914”(association)	0.530
PURG	ZNF320	psi-mi:“MI:0914”(association)	0.350
ZNF467	ZNF320	psi-mi:“MI:0914”(association)	0.350
NOTCH2	ZNF320	psi-mi:“MI:0914”(association)	0.350
ZNF653	URB1	psi-mi:“MI:0914”(association)	0.350
RPL13	POLRMT	psi-mi:“MI:0914”(association)	0.350
ZNF816	TRIM37	psi-mi:“MI:0914”(association)	0.350

BioGRID (18): ZNF813 (Affinity Capture-MS), ZNF813 (Affinity Capture-MS), ZNF813 (Affinity Capture-MS), ZNF813 (Affinity Capture-MS), ZNF813 (Affinity Capture-MS), ZNF813 (Affinity Capture-MS), ZNF813 (Affinity Capture-MS), ZNF813 (Affinity Capture-MS), ZNF813 (Affinity Capture-MS), ZNF813 (Affinity Capture-MS), ZNF813 (Affinity Capture-MS), ZNF813 (Affinity Capture-MS), ZNF813 (Affinity Capture-MS), ZNF813 (Affinity Capture-MS), ZNF813 (Proximity Label-MS)

ESM2 similar proteins: A2VDP4, A6NHJ4, O94892, P0CJ79, P17014, P17021, P17025, P17032, P17035, P18733, P51508, P51814, Q06730, Q06732, Q09FC8, Q0VGE8, Q14586, Q32M78, Q3MIS6, Q5JVG2, Q5R4K8, Q5R9S5, Q5RBQ3, Q5RCJ2, Q5RER9, Q5TYW1, Q5VIY5, Q6P560, Q6PDB4, Q6ZMW2, Q6ZN06, Q6ZNA1, Q76KX8, Q7L2R6, Q86Y25, Q8N184, Q8N823, Q8N883, Q8N8J6, Q8NEP9

Diamond homologs: A0A1W2PQL4, A2RRD8, A2VDQ7, A6NHJ4, A6NK75, A6NN14, A6NNF4, A6NP11, B4DX44, B4DXR9, E9PW05, O14628, O43345, O75290, O75346, O75373, O75820, P0CB33, P0CJ79, P0DKX0, P10755, P17032, P17035, P52738, Q02386, Q03923, Q03936, Q05481, Q08AN1, Q09FC8, Q0VGE8, Q14586, Q14593, Q147U1, Q15928, Q3MIS6, Q3SXZ3, Q494X3, Q4R6C2, Q5HY98

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 19 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
Regulation of endogenous retroelements by KRAB-ZFP proteins	5	35.6×	1e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	113
Likely benign	5
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1004 predictions. Top by Δscore:

Variant	Effect	Δscore
19:53467786:GCGC:G	donor_gain	1.0000
19:53467788:GC:G	donor_gain	1.0000
19:53467790:G:GG	donor_gain	1.0000
19:53486627:TTCA:T	acceptor_loss	1.0000
19:53486628:TCA:T	acceptor_loss	1.0000
19:53486629:CA:C	acceptor_loss	1.0000
19:53486630:A:AT	acceptor_loss	1.0000
19:53486719:G:T	donor_gain	1.0000
19:53486757:GG:G	donor_gain	1.0000
19:53486758:GG:G	donor_gain	1.0000
19:53476297:GGTA:G	donor_gain	0.9900
19:53483747:CA:C	acceptor_loss	0.9900
19:53483833:CTCAG:C	donor_loss	0.9900
19:53483834:TCAGG:T	donor_loss	0.9900
19:53483835:CAGG:C	donor_loss	0.9900
19:53483836:AGGTG:A	donor_loss	0.9900
19:53483837:GG:G	donor_loss	0.9900
19:53483838:GT:G	donor_loss	0.9900
19:53483839:T:A	donor_loss	0.9900
19:53486630:A:AG	acceptor_gain	0.9900
19:53486630:AG:A	acceptor_gain	0.9900
19:53486631:G:GG	acceptor_gain	0.9900
19:53486631:GG:G	acceptor_gain	0.9900
19:53486631:GGGT:G	acceptor_gain	0.9900
19:53486719:G:GT	donor_gain	0.9900
19:53486758:GGTGA:G	donor_loss	0.9900
19:53486759:G:GG	donor_gain	0.9900
19:53486759:GTGAG:G	donor_loss	0.9900
19:53486760:T:A	donor_loss	0.9900
19:53486761:G:GT	donor_loss	0.9900

AlphaMissense

4145 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:53491742:T:C	F504L	0.995
19:53491744:T:A	F504L	0.995
19:53491744:T:G	F504L	0.995
19:53491322:T:C	F364L	0.992
19:53491324:T:A	F364L	0.992
19:53491324:T:G	F364L	0.992
19:53491406:T:C	F392L	0.991
19:53491408:C:A	F392L	0.991
19:53491408:C:G	F392L	0.991
19:53491574:T:C	F448L	0.988
19:53491576:C:A	F448L	0.988
19:53491576:C:G	F448L	0.988
19:53491154:T:C	F308L	0.987
19:53491156:C:A	F308L	0.987
19:53491156:C:G	F308L	0.987
19:53491658:T:C	F476L	0.987
19:53491660:C:A	F476L	0.987
19:53491660:C:G	F476L	0.987
19:53491490:T:C	F420L	0.986
19:53491492:T:A	F420L	0.986
19:53491492:T:G	F420L	0.986
19:53491749:G:C	R506P	0.985
19:53491238:T:C	F336L	0.984
19:53491240:T:A	F336L	0.984
19:53491240:T:G	F336L	0.984
19:53491070:T:C	F280L	0.982
19:53491072:C:A	F280L	0.982
19:53491072:C:G	F280L	0.982
19:53491833:G:C	R534P	0.981
19:53491581:G:C	R450P	0.979

dbSNP variants (sampled 300 via entrez): RS1000072026 (19:53472448 A>G), RS1000130488 (19:53480511 A>G), RS1000135721 (19:53477935 T>C), RS1000439146 (19:53488172 G>A,T), RS1000450580 (19:53487972 A>T), RS1000471096 (19:53476750 G>A), RS1000524330 (19:53476491 C>G,T), RS1000732643 (19:53481860 G>A), RS1001039874 (19:53482185 CA>C,CAA), RS1001135957 (19:53479101 A>G), RS1001189766 (19:53478913 G>A,T), RS1001346972 (19:53492407 A>G,T), RS1001397954 (19:53483988 T>G), RS1001457501 (19:53489136 T>C), RS1001505890 (19:53488865 T>C)

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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases methylation, increases methylation	2
Valproic Acid	decreases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
triphenyl phosphate	affects expression	1
butyraldehyde	increases expression	1
aflatoxin B2	decreases methylation	1
avobenzone	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
bisphenol S	affects cotreatment, increases methylation	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Air Pollutants	affects expression, increases abundance	1
Ozone	affects expression, increases abundance	1
Plant Extracts	affects cotreatment, increases expression	1
Potassium Chloride	decreases expression, decreases response to substance	1
Smoke	decreases expression	1
Dronabinol	decreases expression, decreases response to substance	1
Tobacco Smoke Pollution	increases expression	1
Triclosan	decreases expression	1
Cadmium Chloride	decreases expression	1

Clinical trials (associated diseases)

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