ZNF722

Summary

ZNF722 (zinc finger protein 722, HGNC:22571) is a protein-coding gene on chromosome 7q11.21, encoding Zinc finger protein 722 (A0A1W2PQL4). 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 100419780 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001396012

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:22571
Approved symbol	ZNF722
Name	zinc finger protein 722
Location	7q11.21
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000241149
Ensembl biotype	protein_coding
Entrez	100419780

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000330020

RefSeq mRNA: 1 — MANE Select: NM_001396012 NM_001396012

CCDS: CCDS94108

Canonical transcript exons

ENST00000330020 — 4 exons

Exon	Start	End
ENSE00001667122	64005612	64005738
ENSE00001686803	64006224	64006319
ENSE00003978250	63998849	63999000
ENSE00003978251	64015028	64018081

Expression profiles

Bgee: expression breadth tissue_specific, 6 present calls, max score 86.46.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0411 / max 20.5446, expressed in 14 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
78789	0.0411	14

Top tissues by expression

127 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	86.46	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.18	gold quality
testis	UBERON:0000473	44.48	gold quality
right testis	UBERON:0004534	42.12	gold quality
left testis	UBERON:0004533	41.79	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
mucosa of transverse colon	UBERON:0004991	35.72	gold quality
sural nerve	UBERON:0015488	35.57	gold quality
skeletal muscle tissue	UBERON:0001134	35.00	gold quality
muscle tissue	UBERON:0002385	32.25	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
prefrontal cortex	UBERON:0000451	29.88	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
duodenum	UBERON:0002114	28.14	gold quality
liver	UBERON:0002107	28.04	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
superior frontal gyrus	UBERON:0002661	27.04	gold quality
islet of Langerhans	UBERON:0000006	26.92	gold quality
leukocyte	CL:0000738	26.58	gold quality
monocyte	CL:0000576	26.48	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality
urinary bladder	UBERON:0001255	25.72	gold quality
muscle of leg	UBERON:0001383	25.06	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.63

Regulation

Is transcription factor: no

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), 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)

Protein

Protein identifiers

Zinc finger protein 722 — A0A1W2PQL4 (reviewed: A0A1W2PQL4)

All UniProt accessions (1): A0A1W2PQL4

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_001382941* (*=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
IPR050717	C2H2-ZF_Transcription_Reg	Family

Pfam: PF00096, PF01352, PF13465

UniProt features (9 total): zinc finger region 7, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1W2PQL4-F1	67.90	0.34

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 6 (showing top): chr7q11, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, GOMF_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY, GOMF_CIS_REGULATORY_REGION_SEQUENCE_SPECIFIC_DNA_BINDING, GOMF_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_DNA_BINDING

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)

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

64 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF722	FNTA	P49354	271
ZNF722	MAP1S	Q66K74	254
ZNF722	MCM4	P33991	210
ZNF722	PTPN3	P26045	187
ZNF722	UBE3A	P78355	187
ZNF722	HGSNAT	Q68CP4	165
ZNF722	PRKDC	P78527	134
ZNF722	MAMLD1	Q13495	116
ZNF722	HOOK3	Q86VS8	115
ZNF722	CAPN15	O75808	93
ZNF722	MVK	Q03426	64
ZNF722	NME8	Q8N427	62
ZNF722	MED14	O60244	57
ZNF722	JUN	P05412	57
ZNF722	LRGUK	Q96M69	47
ZNF722	DAP3	P51398	47

IntAct

0 interactions, top by confidence:

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, 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

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

2553 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:64015597:T:C	F278L	0.992
7:64015599:T:A	F278L	0.992
7:64015599:T:G	F278L	0.992
7:64015681:T:C	F306L	0.990
7:64015683:T:A	F306L	0.990
7:64015683:T:G	F306L	0.990
7:64015513:T:C	F250L	0.989
7:64015515:T:A	F250L	0.989
7:64015515:T:G	F250L	0.989
7:64015765:T:C	F334L	0.988
7:64015767:T:A	F334L	0.988
7:64015767:T:G	F334L	0.988
7:64015849:T:C	F362L	0.979
7:64015851:T:A	F362L	0.979
7:64015851:T:G	F362L	0.979
7:64015604:G:C	R280P	0.969
7:64005645:T:C	F25L	0.965
7:64005647:C:A	F25L	0.965
7:64005647:C:G	F25L	0.965
7:64015554:T:A	H263Q	0.962
7:64015554:T:G	H263Q	0.962
7:64015429:T:C	F222L	0.956
7:64015431:T:A	F222L	0.956
7:64015431:T:G	F222L	0.956
7:64005624:T:C	F18L	0.955
7:64005626:C:A	F18L	0.955
7:64005626:C:G	F18L	0.955
7:64015638:T:A	H291Q	0.955
7:64015638:T:G	H291Q	0.955
7:64015542:T:A	H259Q	0.949

dbSNP variants (sampled 300 via entrez): RS1000293283 (7:63996998 T>A), RS1000325011 (7:64008878 A>C), RS1000390533 (7:63997934 T>G), RS1000445760 (7:64003059 G>A), RS1001168351 (7:64015038 T>C), RS1001529120 (7:64010630 T>C), RS1001645151 (7:64003138 G>A), RS1001707662 (7:64017278 G>A), RS1001911458 (7:63997371 A>T), RS1002056029 (7:64009738 A>G), RS1002072429 (7:64018370 G>T), RS1002230094 (7:63996850 A>G), RS1002514057 (7:63998797 C>T), RS1002531838 (7:64007929 A>G), RS1002584156 (7:64007374 A>G)

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)

Clinical trials (associated diseases)

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