ZNF816

Summary

ZNF816 (zinc finger protein 816, HGNC:26995) is a protein-coding gene on chromosome 19q13.41, encoding Zinc finger protein 816 (Q0VGE8). 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 membrane. Predicted to be active in nucleus.

Source: NCBI Gene 125893 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 101 total
• MANE Select transcript: NM_001202457

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26995
Approved symbol	ZNF816
Name	zinc finger protein 816
Location	19q13.41
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000180257
Ensembl biotype	protein_coding
Entrez	125893

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 18 protein_coding

ENST00000270457, ENST00000332302, ENST00000357666, ENST00000391786, ENST00000438970, ENST00000444460, ENST00000457013, ENST00000535506, ENST00000866654, ENST00000866655, ENST00000866656, ENST00000866657, ENST00000866658, ENST00000918754, ENST00000918755, ENST00000918756, ENST00000955288, ENST00000955289

RefSeq mRNA: 3 — MANE Select: NM_001202457 NM_001031665, NM_001202456, NM_001202457

CCDS: CCDS33096

Canonical transcript exons

ENST00000444460 — 4 exons

Exon	Start	End
ENSE00001733793	52949385	52951584
ENSE00002243667	52962727	52962881
ENSE00003538741	52952751	52952877
ENSE00003543290	52956027	52956104

Expression profiles

Bgee: expression breadth ubiquitous, 173 present calls, max score 95.97.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.9962 / max 91.0908, expressed in 1427 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
182542	3.9962	1427
182541	0.7347	445

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	95.97	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.09	gold quality
rectum	UBERON:0001052	80.95	gold quality
colonic epithelium	UBERON:0000397	80.68	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.84	gold quality
islet of Langerhans	UBERON:0000006	79.61	gold quality
calcaneal tendon	UBERON:0003701	79.57	gold quality
granulocyte	CL:0000094	79.22	gold quality
right uterine tube	UBERON:0001302	79.16	gold quality
cerebellar hemisphere	UBERON:0002245	77.09	gold quality
cerebellar cortex	UBERON:0002129	76.99	gold quality
stromal cell of endometrium	CL:0002255	76.24	gold quality
right hemisphere of cerebellum	UBERON:0014890	75.96	gold quality
ileal mucosa	UBERON:0000331	75.76	gold quality
diaphragm	UBERON:0001103	75.67	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	75.19	gold quality
pancreas	UBERON:0001264	75.11	gold quality
body of pancreas	UBERON:0001150	74.77	gold quality
gall bladder	UBERON:0002110	74.76	gold quality
descending thoracic aorta	UBERON:0002345	74.66	gold quality
leukocyte	CL:0000738	74.48	gold quality
prostate gland	UBERON:0002367	74.41	gold quality
monocyte	CL:0000576	74.12	gold quality
tendon	UBERON:0000043	73.95	gold quality
mononuclear cell	CL:0000842	73.89	gold quality
transverse colon	UBERON:0001157	73.86	gold quality
cerebellum	UBERON:0002037	73.81	gold quality
ventricular zone	UBERON:0003053	73.72	gold quality
adrenal tissue	UBERON:0018303	73.65	gold quality
ganglionic eminence	UBERON:0004023	73.44	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.35
E-MTAB-7303	no	86.85

Regulation

Is transcription factor: yes

JASPAR motifs

Motif	Name	Family
MA1719.1	ZNF816	More than 3 adjacent zinc fingers
MA1719.2	ZNF816	More than 3 adjacent zinc fingers

JASPAR matrix evidence (PMIDs): PMID:28273063

miRNA regulators (miRDB)

46 targeting ZNF816, 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-3064-3P	100.00	70.09	1254
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-12121	99.99	66.64	255
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4715-3P	99.98	66.03	670
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-8087	99.90	69.55	1351
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-2052	99.79	69.37	2031
HSA-MIR-8076	99.78	68.52	1170
HSA-MIR-4320	99.75	65.80	793
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-10393-5P	99.65	68.01	1368
HSA-MIR-4502	99.65	66.99	1021
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-1251-3P	99.64	67.21	1408
HSA-MIR-12122	99.56	69.33	1672
HSA-MIR-106A-3P	99.53	67.58	995
HSA-MIR-4452	99.50	68.45	1493
HSA-MIR-4762-3P	99.43	69.72	2363
HSA-MIR-19A-5P	99.36	66.93	1675

Cross-species orthologs

0 orthologs

Paralogs (11): ZNF761 (ENSG00000160336), ZNF701 (ENSG00000167562), ZNF766 (ENSG00000196214), ZNF765 (ENSG00000196417), ZNF860 (ENSG00000197385), ZNF813 (ENSG00000198346), ZNF525 (ENSG00000203326), ZNF468 (ENSG00000204604), ZNF888 (ENSG00000213793), ZNF578 (ENSG00000258405), (ENSG00000269825)

Protein

Protein identifiers

Zinc finger protein 816 — Q0VGE8 (reviewed: Q0VGE8)

All UniProt accessions (6): Q0VGE8, F5GXJ3, I3L0H5, M0QY99, M0QZX7, M0R0G1

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 (3): NP_001026835, NP_001189385, NP_001189386* (*=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

UniProt features (20 total): zinc finger region 15, sequence variant 2, chain 1, domain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q0VGE8-F1	67.12	0.15

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9843940	Regulation of endogenous retroelements by KRAB-ZFP proteins

MSigDB gene sets: 46 (showing top): GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, KRIGE_RESPONSE_TO_TOSEDOSTAT_6HR_DN, GOBP_NEGATIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, REACTOME_EPIGENETIC_REGULATION_OF_GENE_EXPRESSION, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, SALL4_TARGET_GENES, MIR616_5P, MIR371B_5P, MIR373_5P, MIR561_3P, MIR6833_3P, MIR6873_3P, MIR4768_5P, MIR6074

GO Biological Process (3): negative regulation of transcription by RNA polymerase II (GO:0000122), 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), DNA-binding transcription factor activity (GO:0003700), metal ion binding (GO:0046872)

GO Cellular Component (2): nucleus (GO:0005634), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Regulation of endogenous retroelements	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of transcription by RNA polymerase II	2
transcription by RNA polymerase II	2
regulation of DNA-templated transcription	2
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
negative regulation of DNA-templated transcription	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
transition metal ion binding	1
nucleic acid binding	1
transcription cis-regulatory region binding	1
transcription regulator activity	1
cation binding	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

462 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF816	SERPINB8	P50452	628
ZNF816	LCE3D	Q9BYE3	595
ZNF816	GJB2	P29033	561
ZNF816	OR2T2	Q6IF00	543
ZNF816	OR4M2	Q8NGB6	507
ZNF816	ERAP1	Q9NZ08	480
ZNF816	ZNF487	B1APH4	444
ZNF816	IGBP1	P78318	421
ZNF816	RNF114	Q9Y508	420
ZNF816	FBXL19	Q6PCT2	406
ZNF816	VAPB	O95292	401
ZNF816	TNIP1	Q15025	400
ZNF816	PTTG1	O95997	400
ZNF816	LCE3A	Q5TA76	398
ZNF816	MRPL40	Q9NQ50	393

IntAct

6 interactions, top by confidence:

A	B	Type	Score
ZNF816	LRP4	psi-mi:“MI:0914”(association)	0.530
TRIM28	ZNF320	psi-mi:“MI:0914”(association)	0.530
M		psi-mi:“MI:0914”(association)	0.350
ZNF816	TRIM37	psi-mi:“MI:0914”(association)	0.350

BioGRID (27): TRIM37 (Affinity Capture-MS), NKTR (Affinity Capture-MS), SMARCAD1 (Affinity Capture-MS), TOPORS (Affinity Capture-MS), ZNF813 (Affinity Capture-MS), GPALPP1 (Affinity Capture-MS), CENPB (Affinity Capture-MS), DCAF5 (Affinity Capture-MS), TRIM39 (Affinity Capture-MS), LRP4 (Affinity Capture-MS), ZC3H18 (Affinity Capture-MS), SORL1 (Affinity Capture-MS), VPRBP (Affinity Capture-MS), ZNF813 (Affinity Capture-MS), ZC3H18 (Affinity Capture-MS)

ESM2 similar proteins: A0A087WUV0, A0JNB1, A2VDP4, B2RUI1, P0CG31, P10072, P17025, P17036, P17097, P18733, P51814, Q08ER8, Q09FC8, Q0VGE8, Q14590, Q15937, Q16600, Q2M3X9, Q4V8A8, Q5CZA5, Q5R8G9, Q5RBX0, Q5VIY5, Q68DI1, Q6J6I6, Q6NX49, Q6P1L6, Q6PG37, Q6ZMS4, Q6ZMW2, Q80YP6, Q86UD4, Q86Y25, Q8IZ26, Q8N184, Q8NB42, Q8NEK5, Q8TAF7, Q8TF47, Q8WXB4

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.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	91
Likely benign	10
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

982 predictions. Top by Δscore:

Variant	Effect	Δscore
19:52952721:T:TA	donor_gain	1.0000
19:52956024:TACC:T	donor_loss	1.0000
19:52956024:TACCT:T	donor_loss	1.0000
19:52956025:A:AC	donor_gain	1.0000
19:52956025:A:AT	donor_loss	1.0000
19:52956025:AC:A	donor_gain	1.0000
19:52956026:C:CC	donor_gain	1.0000
19:52956026:C:CG	donor_gain	1.0000
19:52956026:CC:C	donor_gain	1.0000
19:52956026:CCTG:C	donor_gain	1.0000
19:52956026:CCTGA:C	donor_gain	1.0000
19:52956100:AAATC:A	acceptor_gain	1.0000
19:52956101:AATC:A	acceptor_gain	1.0000
19:52956102:ATC:A	acceptor_gain	1.0000
19:52956102:ATCC:A	acceptor_loss	1.0000
19:52956103:TC:T	acceptor_gain	1.0000
19:52956104:CC:C	acceptor_gain	1.0000
19:52956104:CCTG:C	acceptor_gain	1.0000
19:52956105:C:CC	acceptor_gain	1.0000
19:52956107:G:C	acceptor_gain	1.0000
19:52956109:A:AC	acceptor_gain	1.0000
19:52956109:A:C	acceptor_gain	1.0000
19:52956111:G:C	acceptor_gain	1.0000
19:52956111:G:GC	acceptor_gain	1.0000
19:52956112:T:C	acceptor_gain	1.0000
19:52956112:T:TC	acceptor_gain	1.0000
19:52952744:T:A	donor_gain	0.9900
19:52952754:CAAA:C	donor_gain	0.9900
19:52956023:TTA:T	donor_gain	0.9900
19:52956026:CCT:C	donor_gain	0.9900

AlphaMissense

4366 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:52950053:A:C	F574L	0.996
19:52950053:A:T	F574L	0.996
19:52950055:A:G	F574L	0.996
19:52950137:G:C	F546L	0.994
19:52950137:G:T	F546L	0.994
19:52950139:A:G	F546L	0.994
19:52950389:G:C	F462L	0.993
19:52950389:G:T	F462L	0.993
19:52950391:A:G	F462L	0.993
19:52950641:G:C	F378L	0.993
19:52950641:G:T	F378L	0.993
19:52950643:A:G	F378L	0.993
19:52950221:G:C	F518L	0.992
19:52950221:G:T	F518L	0.992
19:52950223:A:G	F518L	0.992
19:52949885:A:C	F630L	0.991
19:52949885:A:T	F630L	0.991
19:52949887:A:G	F630L	0.991
19:52950305:A:C	F490L	0.991
19:52950305:A:T	F490L	0.991
19:52950307:A:G	F490L	0.991
19:52950110:A:C	H555Q	0.990
19:52950110:A:T	H555Q	0.990
19:52949969:A:C	F602L	0.989
19:52949969:A:T	F602L	0.989
19:52949971:A:G	F602L	0.989
19:52950384:C:G	R464P	0.987
19:52950725:A:C	F350L	0.987
19:52950725:A:T	F350L	0.987
19:52950727:A:G	F350L	0.987

dbSNP variants (sampled 300 via entrez): RS1000116311 (19:52962827 A>C,G), RS1000146635 (19:52964620 G>T), RS1000212551 (19:52963192 C>T), RS1000453405 (19:52963899 G>A), RS1000677415 (19:52958550 G>A), RS1000748039 (19:52957461 GA>G), RS1000882507 (19:52953868 C>T), RS1001215101 (19:52955204 CAA>C,CA,CAAA), RS1001468773 (19:52949027 C>G), RS1001818095 (19:52959651 G>A), RS1002289518 (19:52964681 T>C,G), RS1002380277 (19:52960164 C>G), RS1002881618 (19:52954627 C>A), RS1002887116 (19:52956177 C>A,G,T), RS1002980489 (19:52955915 C>A,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
GCST002738_7	Psoriasis	4.000000e-06
GCST002874_18	Psoriasis	6.000000e-07

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs9304742	Efficacy	3	Tumor necrosis factor alpha (TNF-alpha) inhibitors	Psoriasis

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
TAK-243	increases sumoylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
sodium arsenite	decreases expression	1
butyraldehyde	increases expression	1
N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine	decreases expression	1
pentanal	increases expression	1
di-n-butylphosphoric acid	affects expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	increases expression	1
Aldehydes	increases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Cadmium	increases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Cyclosporine	increases expression	1
Aflatoxin B1	increases methylation	1
Aflatoxin M1	decreases expression	1
Zinc Sulfate	increases expression	1
Acrylamide	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_TZ50	HAP1 ZNF816 (-) 1	Cancer cell line	Male
CVCL_TZ51	HAP1 ZNF816 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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