ZNF561

gene
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Also known as MGC45408

Summary

ZNF561 (zinc finger protein 561, HGNC:28684) is a protein-coding gene on chromosome 19p13.2, encoding Zinc finger protein 561 (Q8N587). 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 93134 — RefSeq curated summary.

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 98 total
  • MANE Select transcript: NM_152289

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:28684
Approved symbolZNF561
Namezinc finger protein 561
Location19p13.2
Locus typegene with protein product
StatusApproved
AliasesMGC45408
Ensembl geneENSG00000171469
Ensembl biotypeprotein_coding
Entrez93134

Gene structure

Transcript identifiers

Ensembl transcripts: 27 — 12 protein_coding, 6 retained_intron, 5 protein_coding_CDS_not_defined, 4 nonsense_mediated_decay

ENST00000302851, ENST00000326044, ENST00000421525, ENST00000424629, ENST00000435550, ENST00000443819, ENST00000444519, ENST00000444611, ENST00000444802, ENST00000457965, ENST00000465974, ENST00000470932, ENST00000471053, ENST00000479943, ENST00000480167, ENST00000483768, ENST00000485150, ENST00000490893, ENST00000494276, ENST00000495503, ENST00000497409, ENST00000897545, ENST00000897546, ENST00000897547, ENST00000912474, ENST00000912475, ENST00000941679

RefSeq mRNA: 2 — MANE Select: NM_152289 NM_001330365, NM_152289

CCDS: CCDS12216, CCDS82286

Canonical transcript exons

ENST00000302851 — 6 exons

ExonStartEnd
ENSE0000163241496073299611336
ENSE0000179981196211629621232
ENSE0000347295196140219614103
ENSE0000350262596194329619582
ENSE0000367185896170459617171
ENSE0000368565696180919618179

Expression profiles

Bgee: expression breadth ubiquitous, 248 present calls, max score 93.53.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.2607 / max 227.7270, expressed in 1765 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
17901612.26071765

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
buccal mucosa cellCL:000233693.53gold quality
smooth muscle tissueUBERON:000113593.12gold quality
colonic epitheliumUBERON:000039792.04gold quality
islet of LangerhansUBERON:000000691.40gold quality
stromal cell of endometriumCL:000225589.89gold quality
rectumUBERON:000105289.44gold quality
esophagus mucosaUBERON:000246989.39gold quality
bone marrow cellCL:000209289.29gold quality
gall bladderUBERON:000211089.19gold quality
lower esophagus mucosaUBERON:003583489.08gold quality
pancreasUBERON:000126488.61gold quality
ganglionic eminenceUBERON:000402388.55gold quality
cortical plateUBERON:000534387.89gold quality
body of pancreasUBERON:000115087.65gold quality
esophagusUBERON:000104387.50gold quality
right uterine tubeUBERON:000130287.08gold quality
amniotic fluidUBERON:000017387.06gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099187.05gold quality
urinary bladderUBERON:000125586.96gold quality
adrenal tissueUBERON:001830386.91gold quality
right adrenal glandUBERON:000123386.72gold quality
calcaneal tendonUBERON:000370186.55gold quality
vaginaUBERON:000099686.51gold quality
monocyteCL:000057686.48gold quality
body of uterusUBERON:000985386.48gold quality
descending thoracic aortaUBERON:000234586.42gold quality
leukocyteCL:000073886.32gold quality
endometriumUBERON:000129586.13gold quality
epithelial cell of pancreasCL:000008386.12gold quality
right adrenal gland cortexUBERON:003582786.06gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ENAD-21yes1383.89
E-CURD-7yes1377.76
E-ANND-3yes5.12

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

142 targeting ZNF561, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-1193100.0065.93529
HSA-MIR-4481100.0066.421669
HSA-MIR-3163100.0077.238605
HSA-MIR-6758-5P100.0066.211470
HSA-MIR-548AW99.9972.573559
HSA-MIR-4745-5P99.9865.951028
HSA-MIR-314899.9775.066478
HSA-MIR-548AJ-3P99.9673.385345
HSA-MIR-548X-3P99.9673.385345
HSA-MIR-495-3P99.9672.814197
HSA-MIR-568899.9673.234504
HSA-MIR-211099.9666.681930
HSA-MIR-6778-3P99.9667.292693
HSA-MIR-6825-5P99.9669.813431
HSA-MIR-391099.9571.132227
HSA-MIR-548J-3P99.9472.614881
HSA-MIR-651-3P99.9473.485177
HSA-MIR-548AE-3P99.9372.664867
HSA-MIR-548AH-3P99.9372.544872
HSA-MIR-548AM-3P99.9372.544872
HSA-MIR-548AQ-3P99.9372.664867
HSA-MIR-4760-3P99.9370.502385
HSA-MIR-219A-5P99.9173.36735
HSA-MIR-7-1-3P99.9171.534384
HSA-MIR-7-2-3P99.9171.404394
HSA-MIR-95-5P99.8972.173973
HSA-MIR-17-5P99.8973.832665

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_reriozfxENSDARG00000074453
danio_rerioENSDARG00000098424
mus_musculusZfy2ENSMUSG00000000103
mus_musculusZfy1ENSMUSG00000053211
rattus_norvegicusZfy1ENSRNOG00000053042

Paralogs (38): ZFX (ENSG00000005889), ZBTB11 (ENSG00000066422), ZFAT (ENSG00000066827), ZFY (ENSG00000067646), ZNF586 (ENSG00000083828), IKZF5 (ENSG00000095574), ZNF419 (ENSG00000105136), ZNF549 (ENSG00000121406), ZSCAN20 (ENSG00000121903), ZNF304 (ENSG00000131845), PRDM15 (ENSG00000141956), ZNF660 (ENSG00000144792), ZNF711 (ENSG00000147180), ZNF773 (ENSG00000152439), ZNF256 (ENSG00000152454), ZNF837 (ENSG00000152475), ZNF691 (ENSG00000164011), ZNF610 (ENSG00000167554), E4F1 (ENSG00000167967), ZNF562 (ENSG00000171466), ZNF584 (ENSG00000171574), ZIK1 (ENSG00000171649), ZNF570 (ENSG00000171827), ZSCAN2 (ENSG00000176371), ZNF552 (ENSG00000178935), ZNF154 (ENSG00000179909), ZNF792 (ENSG00000180884), ZNF793 (ENSG00000188227), ZNF548 (ENSG00000188785), ZNF79 (ENSG00000196152), ZNF418 (ENSG00000196724), ZNF772 (ENSG00000197128), ZNF583 (ENSG00000198440), ZNF480 (ENSG00000198464), ZNF551 (ENSG00000204519), ZNF134 (ENSG00000213762), ZNF587B (ENSG00000269343), ZNF8 (ENSG00000278129)

Protein

Protein identifiers

Zinc finger protein 561Q8N587 (reviewed: Q8N587)

All UniProt accessions (9): A8KAD9, C9IZJ4, C9J7U2, C9JQP3, Q8N587, F2Z3H5, F8W7U5, F8WAU2, F8WBU1

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 IDNamesCanonical?
Q8N587-11yes
Q8N587-22

RefSeq proteins (2): NP_001317294, NP_689502* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001909KRABDomain
IPR013087Znf_C2H2_typeDomain
IPR036051KRAB_dom_sfHomologous_superfamily
IPR036236Znf_C2H2_sfHomologous_superfamily

Pfam: PF00096, PF01352

UniProt features (17 total): zinc finger region 12, cross-link 2, chain 1, domain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q8N587-F160.210.21

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 (2): 273, 424

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

IDPathway
R-HSA-212436Generic Transcription Pathway

MSigDB gene sets: 69 (showing top): HEIDENBLAD_AMPLICON_12P11_12_DN, chr19p13, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, DUTERTRE_ESTRADIOL_RESPONSE_24HR_DN, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, ALKBH3_TARGET_GENES, CBX5_TARGET_GENES, DIDO1_TARGET_GENES, HMGA1_TARGET_GENES, HOXB4_TARGET_GENES, KLF7_TARGET_GENES, RFX7_TARGET_GENES, RLF_TARGET_GENES, RORA_TARGET_GENES, RYBP_TARGET_GENES

GO Biological Process (4): regulation of transcription by RNA polymerase II (GO:0006357), regulation of DNA-templated transcription (GO:0006355), regulation of macromolecule metabolic process (GO:0060255), regulation of primary metabolic process (GO:0080090)

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:

CategoryPathways
RNA Polymerase II Transcription1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
regulation of metabolic process2
RNA polymerase II transcription regulatory region sequence-specific DNA binding2
regulation of DNA-templated transcription1
transcription by RNA polymerase II1
DNA-templated transcription1
regulation of gene expression1
regulation of RNA biosynthetic process1
macromolecule metabolic process1
primary metabolic process1
cis-regulatory region sequence-specific DNA binding1
chromatin1
DNA-binding transcription factor activity1
regulation of transcription by RNA polymerase II1
transition metal ion binding1
nucleic acid binding1
cation binding1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

578 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ZNF561MTHFSDQ2M296380
ZNF561SP140LQ9H930369
ZNF561ZFYVE28Q9HCC9368
ZNF561INO80EQ8NBZ0323
ZNF561ZFHX2Q9C0A1315
ZNF561EXD3Q8N9H8308
ZNF561NACC2Q96BF6304
ZNF561BOLA3Q53S33298
ZNF561PTGR1Q14914243
ZNF561DPF2Q92785233
ZNF561SLITRK1Q96PX8231
ZNF561MELTFP08582228
ZNF561ZBTB10Q96DT7220
ZNF561ITPKBP27987208
ZNF561ZBTB8AQ96BR9205

IntAct

9 interactions, top by confidence:

ABTypeScore
ZNF562ISLRpsi-mi:“MI:0914”(association)0.530
TRIM28ZNF316psi-mi:“MI:0914”(association)0.530
TRIM28ZNF320psi-mi:“MI:0914”(association)0.530
STYK1MYO1Cpsi-mi:“MI:0914”(association)0.350
ZNF561PPM1Gpsi-mi:“MI:0914”(association)0.350
TEX19ZNF316psi-mi:“MI:0914”(association)0.350
ZNF562MDM2psi-mi:“MI:0914”(association)0.350

BioGRID (14): ZNF561 (Affinity Capture-RNA), ZNF561 (Affinity Capture-MS), ZNF561 (Affinity Capture-MS), ZNF561 (Affinity Capture-MS), ZNF561 (Affinity Capture-MS), ZNF561 (Affinity Capture-MS), ZNF561 (Affinity Capture-MS), ZNF561 (Affinity Capture-MS), ZNF561 (Affinity Capture-MS), ZNF561 (Affinity Capture-MS), ZNF561 (Affinity Capture-MS), ZNF561 (Affinity Capture-MS), ZNF561 (Affinity Capture-MS), ZNF561 (Affinity Capture-RNA)

ESM2 similar proteins: A0JPL0, A6NK53, E7ETH6, E9Q8G5, O14628, P21506, P51508, Q09FC8, Q13360, Q2M218, Q2M3X9, Q2VY69, Q3KQV3, Q3SY52, Q4R882, Q5HY98, Q5REN4, Q5RES8, Q68DI1, Q6NX49, Q6P280, Q6PG37, Q6V9R5, Q6ZMW2, Q7Z340, Q86XU0, Q8IYI8, Q8N587, Q8N720, Q8N859, Q8NB42, Q8NDW4, Q8NEK5, Q8WXB4, Q96MR9, Q96MU6, Q96NG8, Q96NJ3, Q96SR6, Q9BR84

Diamond homologs: A0JPL0, A1L1L7, A2A761, A2VDP4, A3KN36, A6QLU5, A6QPT6, A7MBI1, A8MT65, B2RXC5, E9PYI1, E9Q8G5, O75290, O94892, O95780, P10076, P17014, P17023, P17025, P17030, P17032, P17098, P51523, P51814, P52736, P52742, P58317, Q02975, Q06730, Q06732, Q08DG8, Q0VCB0, Q13360, Q14584, Q14587, Q14590, Q147U1, Q16587, Q29RZ4, Q2M218

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance84
Likely benign9
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

940 predictions. Top by Δscore:

VariantEffectΔscore
19:9614104:C:CCacceptor_gain1.0000
19:9614116:A:Tacceptor_gain1.0000
19:9618085:GCTTA:Gdonor_loss1.0000
19:9618086:CTTAC:Cdonor_loss1.0000
19:9618087:TTA:Tdonor_loss1.0000
19:9618088:TA:Tdonor_loss1.0000
19:9618089:A:Tdonor_loss1.0000
19:9618176:AACC:Aacceptor_gain1.0000
19:9618177:ACC:Aacceptor_gain1.0000
19:9618178:CC:Cacceptor_gain1.0000
19:9618178:CCC:Cacceptor_gain1.0000
19:9618179:CC:Cacceptor_gain1.0000
19:9614014:ATCTT:Adonor_loss0.9900
19:9614015:TCTTA:Tdonor_loss0.9900
19:9614016:CTTA:Cdonor_loss0.9900
19:9614017:TTA:Tdonor_loss0.9900
19:9614018:T:Gdonor_loss0.9900
19:9614019:A:Tdonor_loss0.9900
19:9614020:C:CGdonor_loss0.9900
19:9614100:CATT:Cacceptor_gain0.9900
19:9614110:T:Cacceptor_gain0.9900
19:9614110:T:TCacceptor_gain0.9900
19:9614115:C:CTacceptor_gain0.9900
19:9617038:CTCTT:Cdonor_loss0.9900
19:9617039:TCTTA:Tdonor_loss0.9900
19:9617040:CTTA:Cdonor_loss0.9900
19:9617041:TTACC:Tdonor_loss0.9900
19:9617042:TA:Tdonor_loss0.9900
19:9617043:AC:Adonor_gain0.9900
19:9617044:C:CGdonor_loss0.9900

AlphaMissense

3216 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
19:9610287:A:CF458L0.997
19:9610287:A:TF458L0.997
19:9610289:A:GF458L0.997
19:9610371:A:CF430L0.997
19:9610371:A:TF430L0.997
19:9610373:A:GF430L0.997
19:9610623:A:CF346L0.996
19:9610623:A:TF346L0.996
19:9610625:A:GF346L0.996
19:9610332:A:CH443Q0.995
19:9610332:A:TH443Q0.995
19:9610339:C:GR441P0.995
19:9610342:A:GL440P0.993
19:9610344:G:CH439Q0.993
19:9610344:G:TH439Q0.993
19:9610539:G:CF374L0.993
19:9610539:G:TF374L0.993
19:9610541:A:GF374L0.993
19:9610707:G:CF318L0.993
19:9610707:G:TF318L0.993
19:9610709:A:GF318L0.993
19:9610288:A:GF458S0.992
19:9610314:G:CF449L0.992
19:9610314:G:TF449L0.992
19:9610316:A:GF449L0.992
19:9610354:A:GL436P0.992
19:9610455:G:CF402L0.992
19:9610455:G:TF402L0.992
19:9610457:A:GF402L0.992
19:9610428:A:CH411Q0.991

dbSNP variants (sampled 300 via entrez): RS1000193576 (19:9613596 G>A), RS1000215047 (19:9614225 G>A), RS1000380547 (19:9616737 A>C), RS1000403905 (19:9617458 A>C), RS1000463808 (19:9607328 A>G), RS1000467740 (19:9615225 T>C), RS1000527884 (19:9614967 T>C), RS1000867399 (19:9619358 G>C), RS1000894040 (19:9622535 G>A,T), RS1001158527 (19:9620750 T>G), RS1001224941 (19:9616732 C>G), RS1001390051 (19:9621599 G>A,C), RS1001734627 (19:9621842 G>C), RS1001775605 (19:9607139 A>T), RS1002141730 (19:9616570 C>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

1 associations (top):

StudyTraitp-value
GCST008551_6Simvastatin-induced myopathy6.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Valproic Aciddecreases expression, affects expression5
sodium arsenitedecreases expression, increases abundance, increases expression3
Formaldehydedecreases expression, increases expression2
Phenylmercuric Acetateaffects cotreatment, increases expression2
Aflatoxin B1increases expression2
GSK-J4decreases expression1
TAK-243increases sumoylation1
chloroacetaldehydeaffects expression1
triphenyl phosphateaffects expression1
tris(1,3-dichloro-2-propyl)phosphateincreases expression1
coumarinincreases phosphorylation1
di-n-butylphosphoric acidaffects expression1
K 7174increases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
dorsomorphinincreases expression, affects cotreatment1
jinfukangdecreases expression1
Temozolomideincreases expression1
Leflunomideincreases expression1
Cidofovirdecreases expression1
Acetaminophendecreases expression1
Air Pollutantsaffects expression, increases abundance1
Arsenicincreases abundance, increases expression1
Vehicle Emissionsincreases abundance, increases expression1
Benzo(a)pyreneincreases expression1
Cisplatindecreases expression1
Coumestroldecreases expression1
Clodronic Aciddecreases expression1
Ethyl Methanesulfonateincreases expression1
Ifosfamidedecreases expression1
Methyl Methanesulfonateincreases expression1

Clinical trials (associated diseases)

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

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): myopathy