ZNF214

Summary

ZNF214 (zinc finger protein 214, HGNC:13006) is a protein-coding gene on chromosome 11p15.4, encoding Zinc finger protein 214 (Q9UL59). May be involved in transcriptional regulation.

This gene is expressed predominantly in the testis and encodes a zinc finger protein that contains an N-terminal kruppel-associated box A (KRABA) domain and twelve zinc finger domains. This gene is located within one of three regions on chromosome 11p15 associated with Beckwith-Wiedemann syndrome, called Beckwith-Wiedemann syndrome chromosome region-2 (BWSCR2), and is thought to play a role in the etiology of this disease.

Source: NCBI Gene 7761 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 98 total
• MANE Select transcript: NM_013249

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13006
Approved symbol	ZNF214
Name	zinc finger protein 214
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000149050
Ensembl biotype	protein_coding
OMIM	605015
Entrez	7761

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000278314, ENST00000525017, ENST00000531083, ENST00000536068, ENST00000888786, ENST00000888787, ENST00000888788, ENST00000888789

RefSeq mRNA: 5 — MANE Select: NM_013249 NM_001354830, NM_001354831, NM_001354832, NM_001354833, NM_013249

CCDS: CCDS31418

Canonical transcript exons

ENST00000278314 — 3 exons

Exon	Start	End
ENSE00000988626	7002709	7002855
ENSE00000988627	6997085	7001555
ENSE00002188459	7020073	7020346

Expression profiles

Bgee: expression breadth ubiquitous, 174 present calls, max score 87.16.

FANTOM5 (CAGE): breadth broad, TPM avg 1.7804 / max 91.0908, expressed in 796 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
118462	1.7804	796

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	87.16	gold quality
oocyte	CL:0000023	80.72	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.13	gold quality
calcaneal tendon	UBERON:0003701	79.43	gold quality
ventricular zone	UBERON:0003053	79.13	gold quality
right uterine tube	UBERON:0001302	79.00	gold quality
tendon	UBERON:0000043	76.72	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	76.05	gold quality
secondary oocyte	CL:0000655	75.78	gold quality
ganglionic eminence	UBERON:0004023	73.98	gold quality
tendon of biceps brachii	UBERON:0008188	73.73	gold quality
stromal cell of endometrium	CL:0002255	73.56	gold quality
superficial temporal artery	UBERON:0001614	72.33	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	72.18	gold quality
cortical plate	UBERON:0005343	71.39	gold quality
left ovary	UBERON:0002119	71.15	gold quality
body of uterus	UBERON:0009853	71.11	gold quality
islet of Langerhans	UBERON:0000006	70.71	gold quality
right ovary	UBERON:0002118	70.42	gold quality
endocervix	UBERON:0000458	69.92	gold quality
right lobe of thyroid gland	UBERON:0001119	69.54	gold quality
mucosa of stomach	UBERON:0001199	69.30	gold quality
bronchial epithelial cell	CL:0002328	69.27	gold quality
ovary	UBERON:0000992	69.04	gold quality
left lobe of thyroid gland	UBERON:0001120	68.42	gold quality
ectocervix	UBERON:0012249	68.31	gold quality
smooth muscle tissue	UBERON:0001135	68.17	gold quality
thyroid gland	UBERON:0002046	67.75	gold quality
muscle layer of sigmoid colon	UBERON:0035805	67.20	gold quality
rectum	UBERON:0001052	66.96	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.28

Regulation

Is transcription factor: yes

JASPAR motifs

Motif	Name	Family
MA1975.1	ZNF214	More than 3 adjacent zinc fingers
MA1975.2	ZNF214	More than 3 adjacent zinc fingers

JASPAR matrix evidence (PMIDs): PMID:28273063

Literature-anchored findings (GeneRIF, showing 1)

• For a number of genes affected by de novo copy number variants CNVs in autism (CNTNAP2, ZNF214, ARID1B, Proline Dehydrogenase), reduced transcript expression may be a mechanism of pathogenesis during neurodevelopment. (PMID:21448237)

Cross-species orthologs

0 orthologs

Paralogs (51): WIZ (ENSG00000011451), ZNF416 (ENSG00000083817), MYNN (ENSG00000085274), PRDM4 (ENSG00000110851), PRDM2 (ENSG00000116731), ZBTB17 (ENSG00000116809), ZNF644 (ENSG00000122482), GZF1 (ENSG00000125812), ZNF426 (ENSG00000130818), ZNF287 (ENSG00000141040), ZNF697 (ENSG00000143067), ZNF687 (ENSG00000143373), ZNF547 (ENSG00000152433), ZNF776 (ENSG00000152443), ZNF230 (ENSG00000159882), ZNF222 (ENSG00000159885), ZNF233 (ENSG00000159915), ZNF333 (ENSG00000160961), ZNF319 (ENSG00000166188), ZNF592 (ENSG00000166716), ZNF646 (ENSG00000167395), ZNF507 (ENSG00000168813), ZNF768 (ENSG00000169957), ZNF417 (ENSG00000173480), ZNF408 (ENSG00000175213), ZBTB41 (ENSG00000177888), ZNF223 (ENSG00000178386), ZNF852 (ENSG00000178917), ZNF784 (ENSG00000179922), ZNF572 (ENSG00000180938), ZNF707 (ENSG00000181135), ZNF746 (ENSG00000181220), ZNF467 (ENSG00000181444), ZNF530 (ENSG00000183647), ZNF17 (ENSG00000186272), ZNF527 (ENSG00000189164), ZKSCAN7 (ENSG00000196345), ZNF34 (ENSG00000196378), ZNF774 (ENSG00000196391), ZNF777 (ENSG00000196453)

Protein

Protein identifiers

Zinc finger protein 214 — Q9UL59 (reviewed: Q9UL59)

Alternative names: BWSCR2-associated zinc finger protein 1

All UniProt accessions (1): Q9UL59

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 (5): NP_001341759, NP_001341760, NP_001341761, NP_001341762, NP_037381* (*=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
IPR050636	C2H2-ZF_domain-containing	Family

Pfam: PF00096, PF01352

UniProt features (18 total): zinc finger region 11, sequence variant 4, chain 1, domain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UL59-F1	62.28	0.24

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway

MSigDB gene sets: 40 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, MODULE_48, MODULE_95, DODD_NASOPHARYNGEAL_CARCINOMA_DN, MODULE_49, MODULE_163, ATM_DN.V1_UP, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, ZNF8_TARGET_GENES, MIR1277_5P, MIR3619_5P, MIR12135, MIR214_3P, MIR761, MIR6715A_3P

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

GO Molecular Function (4): DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), metal ion binding (GO:0046872)

GO Cellular Component (1): nucleus (GO:0005634)

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
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
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

390 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF214	BAZ2B	Q9UIF8	803
ZNF214	BAZ2A	Q9UIF9	798
ZNF214	BAZ1A	Q9NRL2	677
ZNF214	BAZ1B	Q9UIG0	653
ZNF214	NAP1L4	Q99733	588
ZNF214	DYNC1I2	Q13409	542
ZNF214	NSD1	Q96L73	497
ZNF214	IGF2	P01344	496
ZNF214	OR2W3	Q7Z3T1	494
ZNF214	TGM1	P22735	440
ZNF214	DLK1	P15803	423
ZNF214	OR2D3	Q8NGH3	421
ZNF214	COG6	Q9Y2V7	421
ZNF214	ZNF215	Q9UL58	408
ZNF214	OR10A3	P58181	385

IntAct

4 interactions, top by confidence:

A	B	Type	Score
ZNF214	LRP4	psi-mi:“MI:0914”(association)	0.530
RBM11	ZNF214	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (23): USP34 (Affinity Capture-MS), ANKS3 (Affinity Capture-MS), TOPORS (Affinity Capture-MS), SOGA3 (Affinity Capture-MS), CENPB (Affinity Capture-MS), SMARCAD1 (Affinity Capture-MS), NEK7 (Affinity Capture-MS), TRIM37 (Affinity Capture-MS), LRP4 (Affinity Capture-MS), TRIM39 (Affinity Capture-MS), ZC3H18 (Affinity Capture-MS), CBX6 (Affinity Capture-MS), ZNF214 (Synthetic Lethality), USP34 (Affinity Capture-MS), CBX6 (Affinity Capture-MS)

ESM2 similar proteins: A0JPL0, A6NK53, E7ETH6, E9Q8G5, O14628, P21506, P51508, Q09FC8, Q13360, Q2M218, Q2M3X9, Q2VY69, Q3KQV3, Q3SY52, Q4R882, Q5HY98, Q5REN4, Q5RES8, Q68DI1, Q6NX49, Q6P280, Q6PG37, Q6V9R5, Q6ZMW2, Q7Z340, Q86XU0, Q8IYI8, Q8N587, Q8N720, Q8N859, Q8NB42, Q8NDW4, Q8NEK5, Q8WXB4, Q96MR9, Q96MU6, Q96NG8, Q96NJ3, Q96SR6, Q9BR84

Diamond homologs: A0JPL0, A8MT65, A8MUZ8, A8MWA4, B2RXC5, B4DU55, B7Z6K7, C9JN71, E9Q8G5, O75820, P0CH99, P0CI00, P0DPD5, P10076, P10755, P17017, P17024, P17031, P17039, P51508, P52737, Q02525, Q02975, Q06730, Q06732, Q08AG5, Q0VCB0, Q13106, Q13398, Q147U1, Q15973, Q2M3X9, Q4R4C7, Q4R882, Q4R8H9, Q5JUW0, Q5MCW4, Q5R4K8, Q5R9F0, Q5RB33

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	75
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

797 predictions. Top by Δscore:

Variant	Effect	Δscore
11:7002708:CCTA:C	donor_gain	1.0000
11:7002711:A:AC	donor_gain	1.0000
11:7002712:C:CC	donor_gain	1.0000
11:7002712:CTGA:C	donor_gain	1.0000
11:7002747:T:TA	donor_gain	1.0000
11:7002748:C:A	donor_gain	1.0000
11:7001552:TTTTC:T	acceptor_loss	0.9900
11:7001553:TTTCT:T	acceptor_loss	0.9900
11:7001554:TTCT:T	acceptor_loss	0.9900
11:7001555:TCTA:T	acceptor_loss	0.9900
11:7001556:C:CC	acceptor_gain	0.9900
11:7001556:C:T	acceptor_loss	0.9900
11:7001557:T:A	acceptor_loss	0.9900
11:7002852:CTTT:C	acceptor_gain	0.9900
11:7002856:C:CC	acceptor_gain	0.9900
11:7020088:A:C	donor_gain	0.9900
11:7020116:T:C	donor_gain	0.9900
11:7020190:T:TA	donor_gain	0.9900
11:7001551:GTTTT:G	acceptor_gain	0.9800
11:7001552:TTTT:T	acceptor_gain	0.9800
11:7001553:TTT:T	acceptor_gain	0.9800
11:7001554:TT:T	acceptor_gain	0.9800
11:7002741:A:AC	donor_gain	0.9800
11:7002742:TG:T	donor_gain	0.9800
11:7002854:TT:T	acceptor_gain	0.9800
11:7002715:A:AC	donor_gain	0.9700
11:7002716:C:CC	donor_gain	0.9700
11:7002716:CATGA:C	donor_gain	0.9700
11:7002853:TTT:T	acceptor_gain	0.9700
11:7002743:G:T	donor_gain	0.9600

AlphaMissense

4073 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:6999994:G:C	F563L	0.999
11:6999994:G:T	F563L	0.999
11:6999996:A:G	F563L	0.999
11:7000078:A:C	F535L	0.999
11:7000078:A:T	F535L	0.999
11:7000080:A:G	F535L	0.999
11:7000162:G:C	F507L	0.999
11:7000162:G:T	F507L	0.999
11:7000164:A:G	F507L	0.999
11:7000246:G:C	F479L	0.999
11:7000246:G:T	F479L	0.999
11:7000248:A:G	F479L	0.999
11:7000330:A:C	F451L	0.999
11:7000330:A:T	F451L	0.999
11:7000332:A:G	F451L	0.999
11:7000414:A:C	F423L	0.999
11:7000414:A:T	F423L	0.999
11:7000416:A:G	F423L	0.999
11:7000498:G:C	F395L	0.999
11:7000498:G:T	F395L	0.999
11:7000500:A:G	F395L	0.999
11:7000481:A:G	L401P	0.998
11:7000079:A:G	F535S	0.997
11:7000145:A:G	L513P	0.997
11:7000163:A:G	F507S	0.997
11:7000229:A:G	L485P	0.997
11:7000313:A:G	L457P	0.997
11:7000397:A:G	L429P	0.997
11:7000415:A:G	F423S	0.997
11:7000499:A:G	F395S	0.997

dbSNP variants (sampled 300 via entrez): RS1000107318 (11:6998252 G>A), RS1000174724 (11:7001550 A>G), RS1000204526 (11:7005153 C>A), RS1000480590 (11:7017994 T>G), RS1000521678 (11:6997955 G>T), RS1000537133 (11:7017891 T>C), RS1000741456 (11:7018268 C>A), RS1000839547 (11:6998426 G>A), RS1000937859 (11:7004709 G>A), RS1001149594 (11:7011705 A>C,G), RS1001498007 (11:7011131 T>C), RS1001522499 (11:7011574 A>C), RS1001704257 (11:7017397 C>T), RS1001715690 (11:7004760 T>C), RS1001836387 (11:7012761 C>T)

Disease associations

OMIM: gene MIM:605015 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST010725_20	Malaria	4.000000e-69
GCST010725_33	Malaria	2.000000e-67
GCST010725_51	Malaria	1.000000e-55

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, decreases methylation	4
trichostatin A	affects cotreatment, decreases expression	3
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
TAK-243	increases sumoylation	1
methylmercuric chloride	increases expression, decreases expression	1
propionaldehyde	decreases expression	1
butyraldehyde	decreases expression	1
ferrous chloride	decreases expression	1
pentanal	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	decreases expression, affects cotreatment	1
Sunitinib	decreases expression	1
Vorinostat	increases expression	1
Aldehydes	decreases expression	1
Cisplatin	affects cotreatment, decreases expression	1
Lead	decreases expression	1
Melphalan	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Vanadates	decreases expression	1
Okadaic Acid	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_XW20	HEK293 eGFP-ZNF214	Transformed cell line	Female

Clinical trials (associated diseases)

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