ZNF730

Summary

ZNF730 (zinc finger protein 730, HGNC:32470) is a protein-coding gene on chromosome 19p12, encoding Putative zinc finger protein 730 (Q6ZMV8). 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 DNA-templated transcription. Predicted to be located in nucleus.

Source: NCBI Gene 100129543 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 8 total
• MANE Select transcript: NM_001277403

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32470
Approved symbol	ZNF730
Name	zinc finger protein 730
Location	19p12
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000183850
Ensembl biotype	protein_coding
Entrez	100129543

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000593635, ENST00000597761, ENST00000599195

RefSeq mRNA: 1 — MANE Select: NM_001277403 NM_001277403

CCDS: CCDS59371

Canonical transcript exons

ENST00000597761 — 4 exons

Exon	Start	End
ENSE00001320395	23145271	23147221
ENSE00001328262	23117025	23117176
ENSE00002266735	23135948	23136043
ENSE00003575140	23134080	23134206

Expression profiles

Bgee: expression breadth ubiquitous, 130 present calls, max score 84.99.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.9761 / max 292.7918, expressed in 1025 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
174908	5.5441	883
174910	1.7066	551
174911	0.7255	266

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.99	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.57	gold quality
ganglionic eminence	UBERON:0004023	77.14	gold quality
ventricular zone	UBERON:0003053	76.94	gold quality
endometrium	UBERON:0001295	69.36	gold quality
adrenal tissue	UBERON:0018303	68.08	gold quality
cortical plate	UBERON:0005343	67.67	gold quality
calcaneal tendon	UBERON:0003701	65.43	gold quality
testis	UBERON:0000473	63.80	gold quality
right testis	UBERON:0004534	63.43	gold quality
left testis	UBERON:0004533	62.19	gold quality
corpus callosum	UBERON:0002336	58.00	gold quality
rectum	UBERON:0001052	57.23	gold quality
left ovary	UBERON:0002119	56.68	gold quality
ovary	UBERON:0000992	56.54	gold quality
bone marrow	UBERON:0002371	56.46	gold quality
placenta	UBERON:0001987	56.40	gold quality
stromal cell of endometrium	CL:0002255	55.92	gold quality
smooth muscle tissue	UBERON:0001135	55.74	gold quality
hypothalamus	UBERON:0001898	55.14	gold quality
right uterine tube	UBERON:0001302	54.80	gold quality
mucosa of transverse colon	UBERON:0004991	54.51	gold quality
tonsil	UBERON:0002372	54.12	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	53.42	gold quality
right ovary	UBERON:0002118	53.02	gold quality
lymph node	UBERON:0000029	52.71	gold quality
islet of Langerhans	UBERON:0000006	52.14	gold quality
bone marrow cell	CL:0002092	51.78	silver quality
right lung	UBERON:0002167	51.56	gold quality
amygdala	UBERON:0001876	51.54	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.70
E-MTAB-6678	no	2.41

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

74 targeting ZNF730, 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-3925-3P	100.00	69.95	1237
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-12121	99.99	66.64	255
HSA-MIR-4715-3P	99.98	66.03	670
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-548AG	99.77	69.25	1492
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-200A-5P	99.76	69.10	949
HSA-MIR-200B-5P	99.76	69.05	948

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
danio_rerio		ENSDARG00000099025

Paralogs (18): ZNF430 (ENSG00000118620), ZNF92 (ENSG00000146757), ZNF66 (ENSG00000160229), ZNF22 (ENSG00000165512), ZNF680 (ENSG00000173041), ZNF114 (ENSG00000178150), ZFP41 (ENSG00000181638), ZNF479 (ENSG00000185177), ZNF626 (ENSG00000188171), ZNF431 (ENSG00000196705), ZNF100 (ENSG00000197020), ZNF257 (ENSG00000197134), ZNF98 (ENSG00000197360), ZNF675 (ENSG00000197372), ZNF273 (ENSG00000198039), ZNF737 (ENSG00000237440), ZNF253 (ENSG00000256771), ZNF723 (ENSG00000268696)

Protein

Protein identifiers

Putative zinc finger protein 730 — Q6ZMV8 (reviewed: Q6ZMV8)

All UniProt accessions (3): Q6ZMV8, M0QYG2, M0QYI4

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_001264332* (*=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
IPR050758	Znf_C2H2-type	Family

Pfam: PF00096, PF01352, PF13465

UniProt features (15 total): zinc finger region 12, chain 1, domain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZMV8-F1	73.51	0.26

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway

MSigDB gene sets: 33 (showing top): chr19p12, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, HSD17B8_TARGET_GENES, MIR3658, MIR23A_3P_MIR23B_3P, MIR23C, MIR6809_3P, MIR6833_3P, MIR6873_3P, MIR4768_5P, MIR875_3P, MIR514B_5P, MIR513C_5P, MIR3925_3P

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

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
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	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

198 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF730	CCDC172	P0C7W6	574
ZNF730	Q6GMV1	Q6GMV1	475
ZNF730	C12orf42	Q96LP6	447
ZNF730	K7N7A8	K7N7A8	438
ZNF730	BPNT1	O95861	350
ZNF730	TM6SF1	Q9BZW5	349
ZNF730	ZNF518B	Q9C0D4	349
ZNF730	NUTM2A	Q8IVF1	349
ZNF730	GPBP1	Q86WP2	348
ZNF730	PNMA1	Q8ND90	341
ZNF730	FOXI2	Q6ZQN5	330
ZNF730	RNF103	O00237	311
ZNF730	LRMDA	Q9H2I8	310
ZNF730	TSPAN6	O43657	309
ZNF730	TP63	Q9H3D4	307
ZNF730	THNSL2	Q86YJ6	307

IntAct

3 interactions, top by confidence:

A	B	Type	Score
ECE1	ZNF730	psi-mi:“MI:0915”(physical association)	0.370
DYRK1A	TEX13D	psi-mi:“MI:0914”(association)	0.350

BioGRID (5): ZNF730 (Affinity Capture-MS), ZNF730 (Affinity Capture-MS), ZNF730 (Cross-Linking-MS (XL-MS)), ZNF730 (Cross-Linking-MS (XL-MS)), ZNF730 (Affinity Capture-RNA)

ESM2 similar proteins: A6NK75, A6NNF4, A6NP11, A8MTY0, A8MUV8, B4DXR9, C9JN71, O75346, O75373, O95780, P0CJ79, P0DKX0, P0DPD5, P17019, P17035, P35789, Q03923, Q03938, Q08AN1, Q14593, Q15928, Q3SXZ3, Q3ZCX4, Q5MCW4, Q5R9S5, Q5RER9, Q68DY1, Q6JLC9, Q6ZMV8, Q6ZN06, Q6ZN08, Q6ZNA1, Q76KX8, Q86T29, Q86V71, Q8IYN0, Q8N4W9, Q8N7M2, Q8NEM1, Q8TD23

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

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

810 predictions. Top by Δscore:

Variant	Effect	Δscore
19:23134074:TTTCA:T	acceptor_loss	1.0000
19:23134075:TTCAG:T	acceptor_loss	1.0000
19:23134076:TCAGG:T	acceptor_loss	1.0000
19:23134077:CA:C	acceptor_loss	1.0000
19:23134077:CAGGG:C	acceptor_gain	1.0000
19:23134078:A:AG	acceptor_gain	1.0000
19:23134078:A:G	acceptor_loss	1.0000
19:23134078:AGG:A	acceptor_gain	1.0000
19:23134078:AGGGA:A	acceptor_gain	1.0000
19:23134079:G:GG	acceptor_gain	1.0000
19:23134079:GGG:G	acceptor_gain	1.0000
19:23134079:GGGA:G	acceptor_gain	1.0000
19:23134079:GGGAG:G	acceptor_gain	1.0000
19:23135946:A:AC	acceptor_loss	1.0000
19:23135947:G:GC	acceptor_loss	1.0000
19:23135947:GGT:G	acceptor_gain	1.0000
19:23136044:G:T	donor_loss	1.0000
19:23117142:C:G	donor_gain	0.9900
19:23134078:AG:A	acceptor_gain	0.9900
19:23134079:GG:G	acceptor_gain	0.9900
19:23134165:GAAAT:G	donor_gain	0.9900
19:23134204:TGGGT:T	donor_loss	0.9900
19:23134205:GG:G	donor_gain	0.9900
19:23134206:GG:G	donor_gain	0.9900
19:23134207:GT:G	donor_loss	0.9900
19:23134208:T:A	donor_loss	0.9900
19:23135940:T:G	acceptor_gain	0.9900
19:23136029:T:TA	donor_gain	0.9900
19:23136030:A:AA	donor_gain	0.9900
19:23145269:A:AG	acceptor_gain	0.9900

AlphaMissense

3357 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:23146341:T:C	F433L	0.975
19:23146343:C:A	F433L	0.975
19:23146343:C:G	F433L	0.975
19:23146425:T:C	F461L	0.971
19:23146427:T:A	F461L	0.971
19:23146427:T:G	F461L	0.971
19:23146432:G:C	R463P	0.962
19:23145921:T:C	F293L	0.954
19:23145923:T:A	F293L	0.954
19:23145923:T:G	F293L	0.954
19:23134113:T:C	F13L	0.948
19:23134115:C:A	F13L	0.948
19:23134115:C:G	F13L	0.948
19:23146509:T:C	F489L	0.946
19:23146511:T:A	F489L	0.946
19:23146511:T:G	F489L	0.946
19:23146257:T:C	F405L	0.944
19:23146259:T:A	F405L	0.944
19:23146259:T:G	F405L	0.944
19:23146089:T:C	F349L	0.943
19:23146091:T:A	F349L	0.943
19:23146091:T:G	F349L	0.943
19:23146005:T:C	F321L	0.932
19:23146007:T:A	F321L	0.932
19:23146007:T:G	F321L	0.932
19:23145753:T:C	F237L	0.930
19:23145755:T:A	F237L	0.930
19:23145755:T:G	F237L	0.930
19:23145940:T:C	L299P	0.919
19:23146360:T:C	L439P	0.913

dbSNP variants (sampled 300 via entrez): RS1000061991 (19:23080137 A>C,G), RS1000121678 (19:23073857 G>A), RS1000173848 (19:23129356 A>C,G), RS1000175279 (19:23075614 T>C,G), RS1000176197 (19:23116789 G>A), RS1000200715 (19:23090249 A>C), RS1000229048 (19:23075335 G>A), RS1000288355 (19:23110074 C>G), RS1000335425 (19:23084855 G>A), RS1000379108 (19:23092606 A>C), RS1000498131 (19:23134600 G>C,T), RS1000510910 (19:23077035 G>T), RS1000563251 (19:23076714 C>G), RS1000620160 (19:23083031 A>G), RS1000622573 (19:23111837 A>T)

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

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
arsenite	decreases expression	1
sodium arsenite	increases expression	1
potassium chromate(VI)	decreases expression	1
nickel sulfate	increases expression	1
2-palmitoylglycerol	increases expression	1
incobotulinumtoxinA	decreases expression	1
2,3,5-trichloro-6-phenyl-(1,4)benzoquinone	increases expression	1
Benzo(a)pyrene	increases expression	1
Estradiol	decreases expression	1
Niclosamide	decreases expression	1
Tetrachlorodibenzodioxin	affects expression	1
Tunicamycin	increases expression	1
Vanadates	increases expression	1

Clinical trials (associated diseases)

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