ZNF814

Summary

ZNF814 (zinc finger protein 814, HGNC:33258) is a protein-coding gene on chromosome 19q13.43, encoding Zinc finger protein 814 (B7Z6K7).

Predicted to enable zinc ion binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus.

Source: NCBI Gene 730051 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 168 total
• Cancer driver (intOGen): activating (oncogene-like) across 1 cancer types
• MANE Select transcript: NM_001144989

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33258
Approved symbol	ZNF814
Name	zinc finger protein 814
Location	19q13.43
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000204514
Ensembl biotype	protein_coding
Entrez	730051

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 8 protein_coding, 2 retained_intron, 2 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000435989, ENST00000594159, ENST00000594629, ENST00000595048, ENST00000595295, ENST00000595894, ENST00000596184, ENST00000596604, ENST00000597342, ENST00000597348, ENST00000597652, ENST00000597807, ENST00000597832, ENST00000600634

RefSeq mRNA: 1 — MANE Select: NM_001144989 NM_001144989

CCDS: CCDS46212

Canonical transcript exons

ENST00000435989 — 3 exons

Exon	Start	End
ENSE00001767615	57869381	57875226
ENSE00003070054	57888767	57889037
ENSE00003661634	57876916	57877042

Expression profiles

Bgee: expression breadth ubiquitous, 257 present calls, max score 93.03.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.6196 / max 110.5934, expressed in 1369 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
182918	5.8271	1305
182917	1.3380	478
182916	0.4545	196

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
colonic epithelium	UBERON:0000397	93.03	gold quality
oocyte	CL:0000023	91.43	gold quality
buccal mucosa cell	CL:0002336	89.72	gold quality
adrenal tissue	UBERON:0018303	88.86	gold quality
secondary oocyte	CL:0000655	87.79	gold quality
corpus epididymis	UBERON:0004359	87.43	gold quality
cerebellar cortex	UBERON:0002129	87.34	gold quality
cerebellar hemisphere	UBERON:0002245	87.33	gold quality
cortical plate	UBERON:0005343	86.94	gold quality
sural nerve	UBERON:0015488	86.81	gold quality
right hemisphere of cerebellum	UBERON:0014890	86.75	gold quality
right lobe of thyroid gland	UBERON:0001119	86.45	gold quality
apex of heart	UBERON:0002098	86.38	gold quality
ganglionic eminence	UBERON:0004023	86.09	gold quality
left lobe of thyroid gland	UBERON:0001120	86.06	gold quality
cerebellum	UBERON:0002037	85.85	gold quality
right adrenal gland	UBERON:0001233	85.59	gold quality
left adrenal gland cortex	UBERON:0035825	85.53	gold quality
adenohypophysis	UBERON:0002196	85.41	gold quality
thyroid gland	UBERON:0002046	85.32	gold quality
right uterine tube	UBERON:0001302	85.30	gold quality
left adrenal gland	UBERON:0001234	85.20	gold quality
right adrenal gland cortex	UBERON:0035827	84.84	gold quality
adrenal gland	UBERON:0002369	84.29	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.19	gold quality
caput epididymis	UBERON:0004358	83.97	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.92	gold quality
pituitary gland	UBERON:0000007	83.89	gold quality
adrenal cortex	UBERON:0001235	83.53	gold quality
right lobe of liver	UBERON:0001114	83.16	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.33

Regulation

Is transcription factor: yes

JASPAR motifs

Motif	Name	Family
MA2533.1	ZNF814	Factors with multiple dispersed zinc fingers

JASPAR matrix evidence (PMIDs): PMID:39605530

miRNA regulators (miRDB)

160 targeting ZNF814, 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-188-3P	100.00	68.76	1240
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-371B-5P	99.99	75.34	4759
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-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
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-548D-5P	99.94	71.23	3502
HSA-MIR-548A-5P	99.94	71.27	3482
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

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 814 — B7Z6K7 (reviewed: B7Z6K7)

All UniProt accessions (9): B7Z6K7, M0QY74, M0QYA7, M0QYL6, M0QZ45, M0QZ64, M0QZS8, M0R066, M0R0R0

RefSeq proteins (1): NP_001138461* (*=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 (32 total): zinc finger region 23, sequence conflict 5, cross-link 2, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-B7Z6K7-F1	69.71	0.03

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 (2): 335, 391

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 51 (showing top): RODRIGUES_NTN1_TARGETS_DN, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, LU_EZH2_TARGETS_UP, GOBP_NEGATIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, JOHNSTONE_PARVB_TARGETS_2_DN, JOHNSTONE_PARVB_TARGETS_3_DN, PURBEY_TARGETS_OF_CTBP1_NOT_SATB1_DN, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, NFE2L1_TARGET_GENES, PRKDC_TARGET_GENES, MIR616_5P, MIR371B_5P, MIR373_5P, MIR4262, MIR5582_3P

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

GO Molecular Function (3): zinc ion binding (GO:0008270), sequence-specific double-stranded DNA binding (GO:1990837), 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
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
transition metal ion binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

392 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF814	SMIM28	A0A1B0GU29	506
ZNF814	EDIL3	O43854	441
ZNF814	KRTAP4-8	Q9BYQ9	398
ZNF814	CYP17A1	P05093	394
ZNF814	CCDC174	Q6PII3	372
ZNF814	FNDC9	Q8TBE3	371
ZNF814	MCRIP2	Q9BUT9	370
ZNF814	DCAF4L1	Q3SXM0	370
ZNF814	ZNF511	Q8NB15	370
ZNF814	TIGD7	Q6NT04	350
ZNF814	KRTAP4-3	Q9BYR4	349
ZNF814	PGCKA1	Q8IY42	348
ZNF814	FAM90A1	Q86YD7	336
ZNF814	NBPF20	P0DPF2	321
ZNF814	TMEM248	Q9NWD8	320

IntAct

2 interactions, top by confidence:

A	B	Type	Score
ECE1	ZNF814	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (3): ZNF814 (Affinity Capture-MS), ZNF814 (Cross-Linking-MS (XL-MS)), ZNF814 (Affinity Capture-RNA)

ESM2 similar proteins: A6NDX5, A6NK75, A6NNF4, A6NP11, B4DXR9, B7Z6K7, C9JN71, O43361, O75290, O75373, P0CJ79, P0DKX0, P17019, P17021, P17035, P17039, P35789, Q02386, Q03938, Q08AN1, Q13106, Q15928, Q3ZCX4, Q5R9F0, Q5SXM1, Q68EA5, Q6P9A1, Q6PDB4, Q6ZN06, Q6ZN08, Q6ZNG1, Q76KX8, Q86V71, Q86XN6, Q8IYB9, Q8N4W9, Q8NEP9, Q8TBZ8, Q8TC21, Q8TF32

Diamond homologs: A2VDP4, B7Z6K7, D3ZVT0, E7ETH6, E9Q8G5, O43296, O43361, O75290, O75467, O75820, P0CH99, P0CI00, P15621, P17021, P17023, P17024, P17030, P17032, P52740, P52741, Q02525, Q06732, Q08DG8, Q08ER8, Q0VCB0, Q13106, Q13398, Q14587, Q147U1, Q15935, Q2M218, Q2M3X9, Q32M78, Q3KQV3, Q3SY52, Q3V080, Q3ZCX4, Q4R882, Q4V8A8, Q5CZA5

SIGNOR signaling

0 interactions.

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: activating (oncogene-like) across 1 cancer types — STAD.

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	155
Likely benign	10
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1443 predictions. Top by Δscore:

Variant	Effect	Δscore
19:57850069:CAG:C	donor_loss	1.0000
19:57850072:GTA:G	donor_loss	1.0000
19:57888763:TTACC:T	donor_loss	1.0000
19:57888764:TACC:T	donor_loss	1.0000
19:57888765:A:C	donor_loss	1.0000
19:57888766:CC:C	donor_loss	1.0000
19:57850073:T:G	donor_loss	0.9900
19:57853852:TTC:T	donor_gain	0.9900
19:57858570:TTTCA:T	acceptor_loss	0.9900
19:57858571:TTCAG:T	acceptor_loss	0.9900
19:57858572:TCAGG:T	acceptor_loss	0.9900
19:57858573:CA:C	acceptor_loss	0.9900
19:57858574:A:AG	acceptor_gain	0.9900
19:57858574:A:C	acceptor_loss	0.9900
19:57858575:G:GG	acceptor_gain	0.9900
19:57860196:A:T	donor_gain	0.9900
19:57858574:A:G	acceptor_loss	0.9800
19:57858575:G:GA	acceptor_loss	0.9800
19:57858575:GGTT:G	acceptor_gain	0.9800
19:57888765:A:AC	donor_gain	0.9800
19:57888766:C:CC	donor_gain	0.9800
19:57850072:G:GG	donor_gain	0.9700
19:57853885:AGCT:A	donor_gain	0.9700
19:57856229:GCTGG:G	donor_gain	0.9700
19:57860267:GTCT:G	donor_gain	0.9700
19:57860268:TCTT:T	donor_gain	0.9700
19:57888875:AT:A	donor_gain	0.9700
19:57850032:T:TA	donor_gain	0.9600
19:57850033:A:AA	donor_gain	0.9600
19:57856230:CTGGG:C	donor_loss	0.9600

AlphaMissense

5742 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:57872963:A:C	F809L	0.998
19:57872963:A:T	F809L	0.998
19:57872965:A:G	F809L	0.998
19:57873047:G:C	F781L	0.997
19:57873047:G:T	F781L	0.997
19:57873049:A:G	F781L	0.997
19:57873131:A:C	F753L	0.997
19:57873131:A:T	F753L	0.997
19:57873133:A:G	F753L	0.997
19:57873383:A:C	F669L	0.997
19:57873383:A:T	F669L	0.997
19:57873385:A:G	F669L	0.997
19:57873803:A:C	F529L	0.997
19:57873803:A:T	F529L	0.997
19:57873805:A:G	F529L	0.997
19:57873971:G:C	F473L	0.997
19:57873971:G:T	F473L	0.997
19:57873973:A:G	F473L	0.997
19:57873467:A:C	F641L	0.996
19:57873467:A:T	F641L	0.996
19:57873469:A:G	F641L	0.996
19:57873719:A:C	F557L	0.996
19:57873719:A:T	F557L	0.996
19:57873721:A:G	F557L	0.996
19:57873887:G:C	F501L	0.996
19:57873887:G:T	F501L	0.996
19:57873889:A:G	F501L	0.996
19:57873099:C:G	R764P	0.995
19:57873198:A:G	L731P	0.995
19:57873551:A:C	F613L	0.995

dbSNP variants (sampled 300 via entrez): RS1000045484 (19:57869547 T>C), RS1000131707 (19:57881215 C>A,T), RS1000188218 (19:57903290 C>A,T), RS1000411453 (19:57870567 A>G), RS1000481179 (19:57881684 G>T), RS1000535296 (19:57904449 G>A), RS1000593071 (19:57898646 T>C), RS1000626803 (19:57902390 G>C), RS1000675664 (19:57871589 A>G), RS1000707090 (19:57872552 T>C), RS1000955699 (19:57887370 G>C,T), RS1001103758 (19:57892998 G>GT), RS1001183358 (19:57879979 C>T), RS1001189979 (19:57893434 A>C,G), RS1001255448 (19:57880588 C>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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression	3
entinostat	increases expression, affects cotreatment	2
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
benzo(e)pyrene	increases methylation	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression, decreases expression	1
dorsomorphin	affects cotreatment, increases expression, decreases expression	1
Sunitinib	decreases expression	1
Fulvestrant	increases methylation	1
Vorinostat	decreases expression	1
Benzo(a)pyrene	decreases methylation	1
Doxorubicin	decreases expression	1
Mercuric Chloride	affects cotreatment, increases expression	1
Methapyrilene	increases methylation	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
Urethane	decreases expression	1
Cadmium Chloride	increases expression	1

Clinical trials (associated diseases)

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