ZNF227

Summary

ZNF227 (zinc finger protein 227, HGNC:13020) is a protein-coding gene on chromosome 19q13.31, encoding Zinc finger protein 227 (Q86WZ6). May be involved in transcriptional regulation.

Predicted to enable DNA binding activity and zinc ion binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within negative regulation of DNA-templated transcription. Predicted to be active in nucleus.

Source: NCBI Gene 7770 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 115 total
• MANE Select transcript: NM_182490

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13020
Approved symbol	ZNF227
Name	zinc finger protein 227
Location	19q13.31
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000131115
Ensembl biotype	protein_coding
Entrez	7770

Gene structure

Transcript identifiers

Ensembl transcripts: 30 — 26 protein_coding, 2 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000313040, ENST00000391961, ENST00000586048, ENST00000586228, ENST00000588219, ENST00000588394, ENST00000588567, ENST00000589005, ENST00000589237, ENST00000589707, ENST00000590871, ENST00000591019, ENST00000621083, ENST00000876872, ENST00000876873, ENST00000876874, ENST00000876875, ENST00000876876, ENST00000876877, ENST00000876878, ENST00000876879, ENST00000876880, ENST00000876881, ENST00000876882, ENST00000876883, ENST00000876884, ENST00000937164, ENST00000966992, ENST00000966993, ENST00000966994

RefSeq mRNA: 9 — MANE Select: NM_182490 NM_001289166, NM_001289167, NM_001289168, NM_001289169, NM_001289170, NM_001289171, NM_001289172, NM_001289173, NM_182490

CCDS: CCDS12636, CCDS74388

Canonical transcript exons

ENST00000313040 — 6 exons

Exon	Start	End
ENSE00001302324	44213090	44213244
ENSE00002522182	44217791	44217852
ENSE00002859708	44234702	44237268
ENSE00003584574	44229733	44229816
ENSE00003649379	44228446	44228572
ENSE00003849386	44212532	44212585

Expression profiles

Bgee: expression breadth ubiquitous, 254 present calls, max score 96.92.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.8974 / max 84.5843, expressed in 1690 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
176255	6.4228	1675
176254	0.2819	122
176256	0.1247	37
176257	0.0680	24

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	96.92	gold quality
oocyte	CL:0000023	94.78	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.60	gold quality
calcaneal tendon	UBERON:0003701	89.17	gold quality
ventricular zone	UBERON:0003053	88.44	gold quality
ganglionic eminence	UBERON:0004023	87.05	gold quality
colonic epithelium	UBERON:0000397	86.03	gold quality
tendon	UBERON:0000043	85.44	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.97	gold quality
cortical plate	UBERON:0005343	84.38	gold quality
adrenal tissue	UBERON:0018303	84.16	gold quality
stromal cell of endometrium	CL:0002255	83.03	gold quality
cerebellar hemisphere	UBERON:0002245	82.28	gold quality
cerebellar cortex	UBERON:0002129	82.26	gold quality
right hemisphere of cerebellum	UBERON:0014890	81.68	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	81.41	gold quality
islet of Langerhans	UBERON:0000006	81.10	gold quality
cerebellum	UBERON:0002037	81.10	gold quality
monocyte	CL:0000576	81.00	gold quality
muscle layer of sigmoid colon	UBERON:0035805	80.90	gold quality
leukocyte	CL:0000738	80.84	gold quality
embryo	UBERON:0000922	80.84	gold quality
mononuclear cell	CL:0000842	80.71	gold quality
right adrenal gland	UBERON:0001233	80.60	gold quality
corpus callosum	UBERON:0002336	80.45	gold quality
left ovary	UBERON:0002119	80.41	gold quality
body of uterus	UBERON:0009853	80.32	gold quality
right adrenal gland cortex	UBERON:0035827	80.21	gold quality
left adrenal gland	UBERON:0001234	80.13	gold quality
lymph node	UBERON:0000029	80.11	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	5.80

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): STAT1

miRNA regulators (miRDB)

31 targeting ZNF227, 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-3134	100.00	66.43	777
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-10395-5P	99.86	67.35	676
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-199A-3P	99.75	70.48	929
HSA-MIR-199B-3P	99.75	70.48	929
HSA-MIR-3129-5P	99.75	70.46	914
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-208A-5P	99.42	70.83	1913
HSA-MIR-208B-5P	99.42	70.83	1952
HSA-MIR-1206	99.30	69.32	1016
HSA-MIR-664A-3P	99.22	71.08	2696
HSA-MIR-3926	98.95	69.26	1438
HSA-MIR-6074	98.89	69.64	2187
HSA-MIR-4635	98.74	67.63	1339
HSA-MIR-6731-3P	98.61	67.86	749
HSA-MIR-1226-3P	97.51	66.32	1063
HSA-MIR-708-3P	97.50	68.67	1082
HSA-MIR-4797-3P	97.48	67.14	989
HSA-MIR-152-5P	96.42	66.59	960
HSA-MIR-1266-3P	96.23	66.36	778

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), 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), ZNF3 (ENSG00000166526)

Protein

Protein identifiers

Zinc finger protein 227 — Q86WZ6 (reviewed: Q86WZ6)

All UniProt accessions (6): Q86WZ6, K7EIL7, K7EIR9, K7EJ92, K7ELS1, K7EPR2

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.

Isoforms (2)

UniProt ID	Names	Canonical?
Q86WZ6-1	1	yes
Q86WZ6-2	2

RefSeq proteins (9): NP_001276095, NP_001276096, NP_001276097, NP_001276098, NP_001276099, NP_001276100, NP_001276101, NP_001276102, NP_872296* (*=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 (22 total): zinc finger region 19, chain 1, domain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86WZ6-F1	65.37	0.02

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway

MSigDB gene sets: 72 (showing top): GGAMTNNNNNTCCY_UNKNOWN, CHEN_HOXA5_TARGETS_9HR_UP, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, VERHAAK_GLIOBLASTOMA_CLASSICAL, ASH1L_TARGET_GENES, BAHD1_TARGET_GENES, BCL6B_TARGET_GENES, LHX9_TARGET_GENES, NFE2L1_TARGET_GENES, PPARGC1A_TARGET_GENES, RYBP_TARGET_GENES, TRIP13_TARGET_GENES, ZBTB12_TARGET_GENES, ZIM3_TARGET_GENES, ZNF197_TARGET_GENES

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

GO Molecular Function (4): DNA binding (GO:0003677), zinc ion binding (GO:0008270), protein binding (GO:0005515), 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
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
nucleic acid binding	1
transition metal ion binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

720 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF227	OR6S1	Q8NH40	570
ZNF227	UBE2V2	Q15819	509
ZNF227	DEPDC4	Q8N2C3	476
ZNF227	ANKMY1	Q9P2S6	458
ZNF227	TMEM47	Q9BQJ4	447
ZNF227	LRRIQ1	Q96JM4	431
ZNF227	CCDC15	Q0P6D6	418
ZNF227	CCDC82	Q8N4S0	402
ZNF227	SCRN3	Q0VDG4	398
ZNF227	DPEP2	Q9H4A9	398
ZNF227	MITD1	Q8WV92	370
ZNF227	COPS9	Q8WXC6	367
ZNF227	FAM76B	Q5HYJ3	354
ZNF227	TM7SF3	Q9NS93	353
ZNF227	HSDL1	Q3SXM5	348
ZNF227	FAM174B	Q3ZCQ3	348

IntAct

20 interactions, top by confidence:

A	B	Type	Score
CEP70	ZNF227	psi-mi:“MI:0915”(physical association)	0.780
ZNF227	CEP70	psi-mi:“MI:0915”(physical association)	0.780
TRIM28	ZNF320	psi-mi:“MI:0914”(association)	0.530
VDAC3	ZNF227	psi-mi:“MI:0915”(physical association)	0.400
ZNF227	MAP3K20	psi-mi:“MI:0915”(physical association)	0.400
UMPS	ZNF227	psi-mi:“MI:0915”(physical association)	0.370
ZNF227	CSNK1E	psi-mi:“MI:0915”(physical association)	0.370
GSK3B	ZNF227	psi-mi:“MI:0915”(physical association)	0.370
ZNF227	RPS6KA6	psi-mi:“MI:0915”(physical association)	0.370
ZNF227	ZNF664	psi-mi:“MI:0914”(association)	0.350
CBX5	ZNF568	psi-mi:“MI:0914”(association)	0.350
APP	ZNF227	psi-mi:“MI:0915”(physical association)	0.000
ZNF227	CEP70	psi-mi:“MI:0915”(physical association)	0.000
ZNF227	secA	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (24): CEP70 (Two-hybrid), ZAK (Affinity Capture-MS), ZNF664 (Affinity Capture-MS), ZNF227 (Affinity Capture-MS), ZNF227 (Two-hybrid), VDAC3 (Proximity Label-MS), ZNF227 (Proximity Label-MS), ZNF227 (Proximity Label-MS), ZNF227 (Affinity Capture-RNA), ZAK (Affinity Capture-MS), ZNF227 (Affinity Capture-MS), ZNF227 (Affinity Capture-MS), ZNF227 (Two-hybrid), ZNF227 (Affinity Capture-MS), RAD50 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0JNB1, A1YF12, A1YG88, A2T759, A6QLU5, B2RUI1, D3ZVT0, O14709, O43296, O75123, P10072, P15621, P17020, P17097, P51814, P85977, Q08ER8, Q0VGE8, Q14590, Q32KN0, Q3KQV3, Q4V8A8, Q5CZA5, Q5RBX0, Q5RCD9, Q5VIY5, Q61116, Q61967, Q6GQR8, Q6P9A3, Q6ZMS4, Q7TSH9, Q7TSI0, Q7Z3I7, Q86UD4, Q86WZ6, Q8BFS8, Q8IZ26, Q8N9F8, Q8TAF7

Diamond homologs: A0A1W2PQL4, A0JNB1, A0JPL0, A6NK53, A6QLU5, A6QPT6, A7MBI1, A8MT65, A8MUV8, A8MWA4, B2RXC5, B4DU55, B4DX44, E9PYI1, O14628, O75346, P0CH99, P0CI00, P17014, P17030, P17032, P17098, P51786, P85977, Q02386, Q06730, Q06732, Q0VAW7, Q12901, Q13360, Q14586, Q14588, Q14590, Q16587, Q2M3X9, Q2VY69, Q32M78, Q3ZCX4, Q49AA0, Q4R6J4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	99
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1003 predictions. Top by Δscore:

Variant	Effect	Δscore
19:44228569:GTGG:G	donor_gain	1.0000
19:44217789:A:AG	acceptor_gain	0.9900
19:44217790:G:GG	acceptor_gain	0.9900
19:44228564:T:TA	donor_gain	0.9900
19:44228568:AGTGG:A	donor_loss	0.9900
19:44228569:GTGGG:G	donor_loss	0.9900
19:44228570:TGGG:T	donor_loss	0.9900
19:44228571:GG:G	donor_gain	0.9900
19:44228571:GGGTG:G	donor_loss	0.9900
19:44228572:GG:G	donor_gain	0.9900
19:44228573:G:GG	donor_gain	0.9900
19:44228573:GT:G	donor_loss	0.9900
19:44228574:T:TT	donor_loss	0.9900
19:44228575:G:GT	donor_loss	0.9900
19:44228578:G:GT	donor_gain	0.9900
19:44229814:GAA:G	donor_gain	0.9900
19:44229817:G:GG	donor_gain	0.9900
19:44212584:AGG:A	donor_loss	0.9800
19:44212586:GTG:G	donor_loss	0.9800
19:44212587:T:A	donor_loss	0.9800
19:44213206:G:GT	donor_gain	0.9800
19:44217790:GTT:G	acceptor_gain	0.9800
19:44228441:TGTA:T	acceptor_loss	0.9800
19:44228443:TAG:T	acceptor_loss	0.9800
19:44228543:TG:T	donor_gain	0.9800
19:44228544:GG:G	donor_gain	0.9800
19:44228584:C:T	donor_gain	0.9800
19:44229814:G:GT	donor_gain	0.9800
19:44212581:GGGAG:G	donor_gain	0.9700
19:44212582:GGAGG:G	donor_gain	0.9700

AlphaMissense

5379 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:44235679:T:C	F417L	1.000
19:44235681:C:A	F417L	1.000
19:44235681:C:G	F417L	1.000
19:44235763:T:C	F445L	1.000
19:44235765:C:A	F445L	1.000
19:44235765:C:G	F445L	1.000
19:44235847:T:C	F473L	1.000
19:44235849:T:A	F473L	1.000
19:44235849:T:G	F473L	1.000
19:44235931:T:C	F501L	1.000
19:44235933:C:A	F501L	1.000
19:44235933:C:G	F501L	1.000
19:44235595:T:C	F389L	0.999
19:44235597:C:A	F389L	0.999
19:44235597:C:G	F389L	0.999
19:44235680:T:C	F417S	0.999
19:44235790:C:G	H454D	0.999
19:44235848:T:C	F473S	0.999
19:44235854:G:C	R475P	0.999
19:44235866:T:C	L479P	0.999
19:44236015:T:C	F529L	0.999
19:44236017:C:A	F529L	0.999
19:44236017:C:G	F529L	0.999
19:44236183:T:C	F585L	0.999
19:44236185:C:A	F585L	0.999
19:44236185:C:G	F585L	0.999
19:44236351:T:C	F641L	0.999
19:44236353:C:A	F641L	0.999
19:44236353:C:G	F641L	0.999
19:44236435:T:C	F669L	0.999

dbSNP variants (sampled 300 via entrez): RS1000013953 (19:44215026 C>T), RS1000079394 (19:44207600 G>A), RS1000159028 (19:44210429 G>A), RS1000456674 (19:44216086 T>C,G), RS1000591925 (19:44208063 A>G), RS1000736592 (19:44229498 A>G), RS1000765035 (19:44232425 T>C), RS1000876509 (19:44220349 T>A,C), RS1000923408 (19:44220450 T>C), RS1000983343 (19:44212852 G>A,C), RS1001060025 (19:44214925 C>G), RS1001279726 (19:44222848 C>T), RS1001389085 (19:44232615 A>C,G), RS1001447598 (19:44210549 T>A), RS1001482938 (19:44206655 T>A,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

31 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	affects expression, affects cotreatment, decreases expression, increases abundance	2
Ozone	increases abundance, affects expression, affects cotreatment, decreases expression	2
Valproic Acid	affects cotreatment, increases expression, decreases methylation	2
Cyclosporine	increases expression	2
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
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
Acrolein	affects cotreatment, decreases expression, increases abundance	1
Vehicle Emissions	increases abundance, increases expression	1
Carbamazepine	affects expression	1
Cisplatin	increases expression	1
Doxorubicin	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	decreases expression	1
Hydralazine	affects cotreatment, increases expression	1
Methyl Methanesulfonate	increases expression	1
Quercetin	decreases expression	1
Testosterone	decreases expression	1
Thiram	increases expression	1
Urethane	increases expression	1
Copper Sulfate	increases expression	1
Lactic Acid	decreases expression	1
Acrylamide	increases expression	1
tert-Butylhydroperoxide	decreases expression	1
Particulate Matter	increases expression, increases abundance	1

Clinical trials (associated diseases)

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