ZFP30

Summary

ZFP30 (ZFP30 zinc finger protein, HGNC:29555) is a protein-coding gene on chromosome 19q13.12, encoding Zinc finger protein 30 homolog (Q9Y2G7). 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 active in nucleus.

Source: NCBI Gene 22835 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 73 total — 1 likely-pathogenic
• MANE Select transcript: NM_001320669

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29555
Approved symbol	ZFP30
Name	ZFP30 zinc finger protein
Location	19q13.12
Locus type	gene with protein product
Status	Approved
Aliases	ZNF745, KIAA0961
Ensembl gene	ENSG00000120784
Ensembl biotype	protein_coding
OMIM	617317
Entrez	22835

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 18 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000351218, ENST00000477900, ENST00000514101, ENST00000586732, ENST00000587199, ENST00000587809, ENST00000588979, ENST00000589018, ENST00000589676, ENST00000589789, ENST00000591444, ENST00000684514, ENST00000858104, ENST00000858105, ENST00000858106, ENST00000858107, ENST00000858108, ENST00000858109, ENST00000937928, ENST00000937929, ENST00000937930, ENST00000943956

RefSeq mRNA: 7 — MANE Select: NM_001320669 NM_001320666, NM_001320667, NM_001320668, NM_001320669, NM_001320670, NM_001320671, NM_014898

CCDS: CCDS33005

Canonical transcript exons

ENST00000684514 — 6 exons

Exon	Start	End
ENSE00001398816	37654712	37654879
ENSE00002514063	37643265	37643363
ENSE00002529404	37644610	37644736
ENSE00003556546	37647814	37647899
ENSE00003917786	37655420	37655465
ENSE00003921180	37631006	37636305

Expression profiles

Bgee: expression breadth ubiquitous, 218 present calls, max score 89.60.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.7732 / max 108.5483, expressed in 1584 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
180723	4.9616	1551
180729	0.4141	232
180731	0.3882	168
180722	0.0093	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	89.60	gold quality
ganglionic eminence	UBERON:0004023	85.59	gold quality
ventricular zone	UBERON:0003053	84.22	gold quality
calcaneal tendon	UBERON:0003701	83.22	gold quality
colonic epithelium	UBERON:0000397	83.17	gold quality
oocyte	CL:0000023	82.98	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.25	gold quality
adrenal tissue	UBERON:0018303	80.61	gold quality
secondary oocyte	CL:0000655	79.97	gold quality
pigmented layer of retina	UBERON:0001782	79.86	gold quality
embryo	UBERON:0000922	79.68	gold quality
cerebellar cortex	UBERON:0002129	79.05	gold quality
cerebellar hemisphere	UBERON:0002245	79.00	gold quality
stromal cell of endometrium	CL:0002255	78.81	gold quality
right hemisphere of cerebellum	UBERON:0014890	78.63	gold quality
left testis	UBERON:0004533	78.20	gold quality
right testis	UBERON:0004534	78.11	gold quality
cerebellum	UBERON:0002037	78.10	gold quality
tendon	UBERON:0000043	77.84	gold quality
seminal vesicle	UBERON:0000998	77.78	gold quality
testis	UBERON:0000473	77.36	gold quality
endometrium	UBERON:0001295	77.29	gold quality
islet of Langerhans	UBERON:0000006	76.33	gold quality
prefrontal cortex	UBERON:0000451	76.11	gold quality
corpus callosum	UBERON:0002336	75.44	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	75.42	gold quality
left ovary	UBERON:0002119	74.17	gold quality
sural nerve	UBERON:0015488	74.07	gold quality
ovary	UBERON:0000992	74.04	gold quality
body of uterus	UBERON:0009853	74.01	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-MTAB-7303	no	359.75
E-MTAB-7249	no	191.02
E-ANND-3	no	5.45

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): STAT1

miRNA regulators (miRDB)

102 targeting ZFP30, 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-3613-3P	100.00	76.36	7965
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-221-3P	99.86	71.56	1329
HSA-MIR-222-3P	99.86	71.35	1337

Literature-anchored findings (GeneRIF, showing 1)

• Using murine and human in vitro and in vivo models, study demonstrated that ZFP30 promotes adipogenesis by directly targeting and activating a retrotransposon-derived Pparg2 enhancer. Through mechanistic studies, study further show that ZFP30 recruits the co-regulator KAP1, which acts as a ZFP30 co-activator in this adipogenic context. (PMID:31000713)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Zfp30	ENSMUSG00000047473
rattus_norvegicus	Zfp84	ENSRNOG00000055519

Paralogs (176): ZNF195 (ENSG00000005801), ZNF112 (ENSG00000062370), ZNF275 (ENSG00000063587), ZNF37A (ENSG00000075407), ZNF510 (ENSG00000081386), ZNF506 (ENSG00000081665), ZNF268 (ENSG00000090612), MZF1 (ENSG00000099326), ZNF629 (ENSG00000102870), ZNF175 (ENSG00000105497), ZNF85 (ENSG00000105750), 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), ZNF3 (ENSG00000166526)

Protein

Protein identifiers

Zinc finger protein 30 homolog — Q9Y2G7 (reviewed: Q9Y2G7)

Alternative names: Zinc finger protein 745

All UniProt accessions (5): D3Y2A0, Q9Y2G7, K7EK76, K7EMM3, K7EPH5

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 (7): NP_001307595, NP_001307596, NP_001307597, NP_001307598, NP_001307599, NP_001307600, NP_055713 (=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 (18 total): zinc finger region 13, cross-link 2, chain 1, domain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y2G7-F1	72.41	0.13

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 (3): 75, 110, 141

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway

MSigDB gene sets: 107 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, RASHI_RESPONSE_TO_IONIZING_RADIATION_5, GEORGES_TARGETS_OF_MIR192_AND_MIR215, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, EPPERT_LSC_R, WONG_ADULT_TISSUE_STEM_MODULE, E2F3_UP.V1_UP, RB_DN.V1_UP, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, CBX5_TARGET_GENES, DYRK1A_TARGET_GENES, HMG20B_TARGET_GENES, HMGA1_TARGET_GENES, KLF7_TARGET_GENES, OVOL3_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 (5): 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), 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
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
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
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
regulation of transcription by RNA polymerase II	1
transition metal ion binding	1
nucleic acid binding	1
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

516 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZFP30	SPDYE11	P0DTA3	507
ZFP30	C12orf42	Q96LP6	357
ZFP30	ZDHHC11B	P0C7U3	348
ZFP30	CNTNAP3B	Q96NU0	322
ZFP30	TCP11L2	Q8N4U5	319
ZFP30	DIPK1C	Q0P6D2	318
ZFP30	SPATA32	Q96LK8	310
ZFP30	KCTD19	Q17RG1	302
ZFP30	TMC7	Q7Z402	286
ZFP30	LRRC14	Q15048	282
ZFP30	JKAMP	Q9P055	271
ZFP30	ZNF512	Q96ME7	270
ZFP30	SP140L	Q9H930	270
ZFP30	PLSCR2	Q9NRY7	269
ZFP30	JADE1	Q6IE81	258

IntAct

9 interactions, top by confidence:

A	B	Type	Score
AURKB	SEC16A	psi-mi:“MI:2364”(proximity)	0.570
TRIM28	ZNF316	psi-mi:“MI:0914”(association)	0.530
ZNF467	ZNF320	psi-mi:“MI:0914”(association)	0.350
CBX6	ZNF316	psi-mi:“MI:0914”(association)	0.350
LYAR	MPHOSPH10	psi-mi:“MI:0914”(association)	0.350
CDK7	TAF4	psi-mi:“MI:2364”(proximity)	0.270
GOLGA2	MYO1C	psi-mi:“MI:2364”(proximity)	0.270
MYOD1	BCL9	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (14): ZFP30 (Proximity Label-MS), ZFP30 (Proximity Label-MS), ZFP30 (Proximity Label-MS), ZFP30 (Affinity Capture-RNA), ZFP30 (Proximity Label-MS), ZFP30 (Affinity Capture-MS), ZFP30 (Affinity Capture-MS), ZFP30 (Affinity Capture-MS), ZFP30 (Proximity Label-MS), ZFP30 (Affinity Capture-MS), ZFP30 (Affinity Capture-MS), ZFP30 (Affinity Capture-MS), ZFP30 (Proximity Label-MS), ZFP30 (Affinity Capture-RNA)

ESM2 similar proteins: A2RRD8, A6NHJ4, B4DX44, O75346, P10077, P10755, P15621, P16372, P16373, P51786, P52737, P85977, Q0VGE8, Q14588, Q147U1, Q15928, Q15973, Q2M3X9, Q3KNS6, Q3MIS6, Q494X3, Q5HY98, Q5RBQ3, Q5REK1, Q5VIY5, Q60585, Q61751, Q6GQR8, Q7L2R6, Q7TSH9, Q8IYX0, Q8N782, Q8N823, Q8N988, Q8N9F8, Q8NA42, Q8NCK3, Q8NDP4, Q8NEP9, Q8TC21

Diamond homologs: A0A1W2PQL4, A6NK75, A6NN14, A6NNF4, A6NP11, A8MQ14, A8MTY0, A8MUV8, A8MXY4, B4DX44, B4DXR9, E9PYI1, O14628, O43345, O75290, O75346, O75373, O75437, O95780, P0CB33, P0DKX0, P0DPD5, P16373, P17019, P17038, P21506, P35789, P52736, P52738, P52744, Q03923, Q03924, Q03936, Q03938, Q05481, Q14586, Q14593, Q14929, Q15928, Q3KNS6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	61
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
224819	NM_001320669.3(ZFP30):c.730T>C (p.Cys244Arg)	Likely pathogenic

SpliceAI

2198 predictions. Top by Δscore:

Variant	Effect	Δscore
19:37647812:A:AC	donor_gain	1.0000
19:37647813:C:CC	donor_gain	1.0000
19:37647813:CA:C	donor_gain	1.0000
19:37647813:CACGA:C	donor_gain	1.0000
19:37647895:CAGAG:C	acceptor_gain	1.0000
19:37647896:AGAGC:A	acceptor_loss	1.0000
19:37647897:GAG:G	acceptor_gain	1.0000
19:37647897:GAGC:G	acceptor_loss	1.0000
19:37647899:GC:G	acceptor_loss	1.0000
19:37647900:C:CC	acceptor_gain	1.0000
19:37647901:T:C	acceptor_loss	1.0000
19:37655109:C:A	donor_gain	1.0000
19:37636305:TC:T	acceptor_loss	0.9900
19:37636306:C:G	acceptor_loss	0.9900
19:37636307:T:G	acceptor_loss	0.9900
19:37644642:A:AC	donor_gain	0.9900
19:37647808:ACTT:A	donor_loss	0.9900
19:37647810:T:TA	donor_loss	0.9900
19:37647811:TACAC:T	donor_loss	0.9900
19:37647812:ACAC:A	donor_loss	0.9900
19:37647813:CACG:C	donor_gain	0.9900
19:37647896:AGAG:A	acceptor_gain	0.9900
19:37647913:A:C	acceptor_gain	0.9900
19:37654710:A:AC	donor_gain	0.9900
19:37654711:C:CC	donor_gain	0.9900
19:37655108:T:TA	donor_gain	0.9900
19:37655230:C:CT	donor_gain	0.9900
19:37655231:T:TT	donor_gain	0.9900
19:37686519:CAGA:C	acceptor_gain	0.9900
19:37686523:C:CC	acceptor_gain	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000010153 (19:37644127 C>A,T), RS1000047376 (19:37638619 G>T), RS1000052870 (19:37656454 T>C,G), RS1000081452 (19:37645433 T>C), RS1000085011 (19:37656186 G>A), RS1000312596 (19:37633143 C>A,T), RS1000323916 (19:37632987 A>G), RS1000545072 (19:37639661 T>G), RS1000689267 (19:37645796 A>T), RS1000743002 (19:37646084 C>T), RS1001054056 (19:37657727 G>A), RS1001152048 (19:37655306 A>C), RS1001314146 (19:37634835 T>C,G), RS1001328966 (19:37634384 A>G), RS1001349231 (19:37649682 G>A,C)

Disease associations

OMIM: gene MIM:617317 | 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
GCST010002_55	Refractive error	7.000000e-09

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	4
trichostatin A	decreases expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
TAK-243	increases sumoylation	1
triphenyl phosphate	affects expression	1
manganese chloride	increases expression, increases abundance	1
vanadyl sulfate	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	decreases expression, affects cotreatment	1
jinfukang	decreases expression	1
Temozolomide	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	decreases methylation	1
Cisplatin	decreases expression	1
Formaldehyde	decreases expression	1
Gallic Acid	decreases expression	1
Manganese	increases expression, increases abundance	1
S-Nitrosoglutathione	increases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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