ZNF230

Summary

ZNF230 (zinc finger protein 230, HGNC:13024) is a protein-coding gene on chromosome 19q13.31, encoding Zinc finger protein 230 (Q9UIE0). May be involved in transcriptional regulation.

Predicted to enable DNA-binding transcription factor activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to be located in nucleus.

Source: NCBI Gene 7773 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 83 total
• MANE Select transcript: NM_006300

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13024
Approved symbol	ZNF230
Name	zinc finger protein 230
Location	19q13.31
Locus type	gene with protein product
Status	Approved
Aliases	FDZF2
Ensembl gene	ENSG00000159882
Ensembl biotype	protein_coding
OMIM	620998
Entrez	7773

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000429154, ENST00000585491, ENST00000585568, ENST00000585632, ENST00000589275, ENST00000893532, ENST00000919760, ENST00000919761

RefSeq mRNA: 1 — MANE Select: NM_006300 NM_006300

CCDS: CCDS33044

Canonical transcript exons

ENST00000429154 — 5 exons

Exon	Start	End
ENSE00001683489	44002957	44003107
ENSE00002512300	44008790	44008916
ENSE00002532637	44007011	44007093
ENSE00002755069	44010269	44013924
ENSE00003535311	44009084	44009170

Expression profiles

Bgee: expression breadth ubiquitous, 193 present calls, max score 77.06.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.9162 / max 54.2742, expressed in 1529 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
176240	3.9162	1529

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
blood	UBERON:0000178	77.06	gold quality
secondary oocyte	CL:0000655	77.02	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	75.75	gold quality
granulocyte	CL:0000094	75.10	gold quality
calcaneal tendon	UBERON:0003701	74.93	gold quality
stromal cell of endometrium	CL:0002255	74.46	gold quality
ganglionic eminence	UBERON:0004023	74.37	gold quality
monocyte	CL:0000576	74.19	gold quality
leukocyte	CL:0000738	74.14	gold quality
mononuclear cell	CL:0000842	73.89	gold quality
cortical plate	UBERON:0005343	73.66	gold quality
ventricular zone	UBERON:0003053	72.79	gold quality
tendon	UBERON:0000043	72.31	gold quality
left ovary	UBERON:0002119	72.07	gold quality
spleen	UBERON:0002106	71.54	gold quality
descending thoracic aorta	UBERON:0002345	71.00	gold quality
cerebellar hemisphere	UBERON:0002245	70.91	gold quality
cerebellar cortex	UBERON:0002129	70.81	gold quality
epithelium of nasopharynx	UBERON:0001951	70.55	silver quality
left adrenal gland	UBERON:0001234	70.48	gold quality
right ovary	UBERON:0002118	70.47	gold quality
left adrenal gland cortex	UBERON:0035825	70.46	gold quality
lower esophagus muscularis layer	UBERON:0035833	70.35	gold quality
lower esophagus	UBERON:0013473	70.32	gold quality
islet of Langerhans	UBERON:0000006	70.31	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	70.12	gold quality
right adrenal gland cortex	UBERON:0035827	69.95	gold quality
right adrenal gland	UBERON:0001233	69.93	gold quality
right lung	UBERON:0002167	69.71	gold quality
tibial artery	UBERON:0007610	69.71	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	4.70

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

125 targeting ZNF230, 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-8485	100.00	77.57	4731
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-6835-3P	99.93	70.49	2904

Literature-anchored findings (GeneRIF, showing 2)

• ZNF230 gene may be associated with azoospermia, and the A316G mutation may be correlated with the serum FSH level. (PMID:15952109)
• ZNF230 is tightly controlled at transcriptional level and a common mechanism controls the basal transcription of ZNF230 gene. (PMID:18584306)

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), ZNF214 (ENSG00000149050), ZNF547 (ENSG00000152433), ZNF776 (ENSG00000152443), 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 230 — Q9UIE0 (reviewed: Q9UIE0)

Alternative names: Zinc finger protein FDZF2

All UniProt accessions (4): Q9UIE0, K7EJU4, K7ELA7, K7EMK6

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_006291* (*=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 (26 total): zinc finger region 10, sequence conflict 10, sequence variant 3, chain 1, domain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UIE0-F1	58.55	0.06

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway

MSigDB gene sets: 57 (showing top): BROWNE_HCMV_INFECTION_6HR_DN, OSMAN_BLADDER_CANCER_DN, BROWNE_HCMV_INFECTION_14HR_UP, JAIN_NFKB_SIGNALING, KRIGE_RESPONSE_TO_TOSEDOSTAT_24HR_UP, GEORGES_TARGETS_OF_MIR192_AND_MIR215, WANG_RESPONSE_TO_GSK3_INHIBITOR_SB216763_UP, NOTCH_DN.V1_UP, IL2_UP.V1_DN, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, ZNF322_TARGET_GENES, ZNF33A_TARGET_GENES, ZNF766_TARGET_GENES, MIR32_5P, MIR92A_3P

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

GO Molecular Function (5): DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), 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
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
binding	1
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

230 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF230	J3KPS3	J3KPS3	826
ZNF230	ALDOA	P04075	825
ZNF230	TCEA3	O75764	366
ZNF230	GNAS	Q5JWF2	211
ZNF230	WT1	P19544	208
ZNF230	TENM2	Q9NT68	202
ZNF230	OLFM1	Q99784	199
ZNF230	AGAP2	Q99490	186
ZNF230	KRT8	P05787	185
ZNF230	NGFR	P08138	180
ZNF230	FBXO11	Q86XK2	159
ZNF230	COMMD5	Q9GZQ3	159
ZNF230	ZNF256	Q9Y2P7	136
ZNF230	ZNF45	P17016	80
ZNF230	ARID4A	P29374	69

IntAct

30 interactions, top by confidence:

A	B	Type	Score
FSD2	ZNF230	psi-mi:“MI:0915”(physical association)	0.560
ZNF230	CCNDBP1	psi-mi:“MI:0915”(physical association)	0.560
KRT40	ZNF230	psi-mi:“MI:0915”(physical association)	0.560
ZNF230	CCDC136	psi-mi:“MI:0915”(physical association)	0.560
MDFI	ZNF230	psi-mi:“MI:0915”(physical association)	0.560
ZNF230	KRT40	psi-mi:“MI:0915”(physical association)	0.560
CCDC136	ZNF230	psi-mi:“MI:0915”(physical association)	0.560
ZNF230	MDFI	psi-mi:“MI:0915”(physical association)	0.560
GOLGA6L9	ZNF230	psi-mi:“MI:0915”(physical association)	0.560
	ZNF230	psi-mi:“MI:0915”(physical association)	0.560
CCDC125	ZNF230	psi-mi:“MI:0915”(physical association)	0.560
MTUS2	ZNF230	psi-mi:“MI:0915”(physical association)	0.560
ZNF230	NDEL1	psi-mi:“MI:0915”(physical association)	0.000
ZNF230	GOLGA6L9	psi-mi:“MI:0915”(physical association)	0.000
ZNF230	CCDC125	psi-mi:“MI:0915”(physical association)	0.000
ZNF230	MTUS2	psi-mi:“MI:0915”(physical association)	0.000
ZNF230		psi-mi:“MI:0915”(physical association)	0.000
ZNF230	ezrA	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (12): ZNF230 (Two-hybrid), CCNDBP1 (Two-hybrid), CCDC136 (Two-hybrid), FSD2 (Two-hybrid), KRT40 (Two-hybrid), ZNF230 (Two-hybrid), ZNF230 (Two-hybrid), CCDC125 (Two-hybrid), GOLGA6L9 (Two-hybrid), ZNF230 (Negative Genetic), ZNF230 (Affinity Capture-MS), ZNF230 (Two-hybrid)

ESM2 similar proteins: A0A1W2PQL4, A0JPL0, A2RRD8, A6NHJ4, A6NP11, B4DX44, O75346, O95780, P0CB33, P21506, P51508, P52738, Q0D2J5, Q0VGE8, Q12901, Q13360, Q14593, Q15973, Q2M218, Q2M3X9, Q2VY69, Q3SXZ3, Q5HY98, Q5RCJ2, Q5VIY5, Q6J6I6, Q7L2R6, Q86XU0, Q86Y25, Q8IW36, Q8IYN0, Q8IYX0, Q8N782, Q8N883, Q8N9Z0, Q8NDP4, Q95K49, Q969W8, Q96H40, Q96N58

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	67
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

721 predictions. Top by Δscore:

Variant	Effect	Δscore
19:44003081:G:T	donor_gain	1.0000
19:44003086:G:GT	donor_gain	1.0000
19:44003099:A:T	donor_gain	1.0000
19:44003105:G:GT	donor_gain	1.0000
19:44006998:T:TA	acceptor_gain	1.0000
19:44006999:G:A	acceptor_gain	1.0000
19:44008785:TATA:T	acceptor_loss	1.0000
19:44008788:A:AG	acceptor_gain	1.0000
19:44008788:A:AT	acceptor_loss	1.0000
19:44008789:G:GG	acceptor_gain	1.0000
19:44008789:GGA:G	acceptor_gain	1.0000
19:44008913:G:GG	donor_gain	1.0000
19:44008913:GTGG:G	donor_loss	1.0000
19:44008917:G:GG	donor_gain	1.0000
19:44008918:TGAG:T	donor_loss	1.0000
19:44008919:GA:G	donor_loss	1.0000
19:44009082:A:AG	acceptor_gain	1.0000
19:44009083:G:GG	acceptor_gain	1.0000
19:44009171:G:C	donor_loss	1.0000
19:44003080:G:GT	donor_gain	0.9900
19:44003082:A:T	donor_gain	0.9900
19:44005261:T:TA	acceptor_gain	0.9900
19:44005273:T:A	acceptor_gain	0.9900
19:44007002:A:AG	acceptor_gain	0.9900
19:44007003:T:G	acceptor_gain	0.9900
19:44007006:TCCAG:T	acceptor_loss	0.9900
19:44007007:CCAG:C	acceptor_loss	0.9900
19:44007008:CAG:C	acceptor_loss	0.9900
19:44007009:A:AG	acceptor_gain	0.9900
19:44007009:AGGCA:A	acceptor_loss	0.9900

AlphaMissense

3184 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:44011106:G:C	R356P	0.993
19:44011240:T:C	F401L	0.990
19:44011242:T:A	F401L	0.990
19:44011242:T:G	F401L	0.990
19:44011175:T:C	L379P	0.986
19:44010820:T:C	F261L	0.984
19:44010822:C:A	F261L	0.984
19:44010822:C:G	F261L	0.984
19:44011072:T:C	F345L	0.984
19:44011074:C:A	F345L	0.984
19:44011074:C:G	F345L	0.984
19:44010736:T:C	F233L	0.983
19:44010738:C:A	F233L	0.983
19:44010738:C:G	F233L	0.983
19:44008814:G:C	A14P	0.982
19:44011103:A:C	Q355P	0.982
19:44008871:T:G	Y33D	0.981
19:44011156:T:G	Y373D	0.978
19:44008861:G:C	Q29H	0.976
19:44008861:G:T	Q29H	0.976
19:44010904:T:C	F289L	0.976
19:44010906:C:A	F289L	0.976
19:44010906:C:G	F289L	0.976
19:44011113:C:A	H358Q	0.975
19:44011113:C:G	H358Q	0.975
19:44011129:T:G	Y364D	0.975
19:44011185:C:A	H382Q	0.975
19:44011185:C:G	H382Q	0.975
19:44011183:C:G	H382D	0.974
19:44008869:T:C	L32P	0.973

dbSNP variants (sampled 300 via entrez): RS1000433956 (19:44013469 A>G), RS1000472517 (19:44014359 C>T), RS1001121915 (19:44001387 G>A), RS1001291632 (19:44009742 A>G), RS1001301143 (19:44002462 A>C,T), RS1001977702 (19:44001767 A>T), RS1002305440 (19:44000982 T>C), RS1002646848 (19:44004811 T>C), RS1002968116 (19:44003948 A>C), RS1003082258 (19:44004249 G>A), RS1003484317 (19:44005070 C>A,G,T), RS1004096835 (19:44012438 A>T), RS1004314948 (19:44005528 A>C,G), RS1004644929 (19:44009706 C>T), RS1004922017 (19:44002385 G>A)

Disease associations

OMIM: gene MIM:620998 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST000464_8	Acute lymphoblastic leukemia (childhood)	4.000000e-07

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
Arsenic	increases methylation, increases abundance, increases expression	2
Formaldehyde	decreases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
bisphenol A	increases expression	1
testosterone undecanoate	increases expression	1
hydroxyhydroquinone	increases expression	1
sodium arsenite	increases abundance, increases expression	1
manganese chloride	increases abundance, increases expression	1
CGP 52608	affects binding, increases reaction	1
NSC 689534	affects binding, increases expression	1
Sunitinib	decreases expression	1
Vorinostat	increases expression	1
Atrazine	increases expression	1
Benzo(a)pyrene	increases methylation	1
Cisplatin	increases expression	1
Copper	affects binding, increases expression	1
Estradiol	decreases expression	1
Manganese	increases abundance, increases expression	1
Testosterone	decreases expression	1
Valproic Acid	affects expression	1
Cadmium Chloride	decreases expression	1
Copper Sulfate	increases expression	1

Clinical trials (associated diseases)

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