ZNF611

gene
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Also known as MGC5384

Summary

ZNF611 (zinc finger protein 611, HGNC:28766) is a protein-coding gene on chromosome 19q13.41, encoding Zinc finger protein 611 (Q8N823). 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 81856 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 155 total
  • MANE Select transcript: NM_001161499

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:28766
Approved symbolZNF611
Namezinc finger protein 611
Location19q13.41
Locus typegene with protein product
StatusApproved
AliasesMGC5384
Ensembl geneENSG00000213020
Ensembl biotypeprotein_coding
Entrez81856

Gene structure

Transcript identifiers

Ensembl transcripts: 26 — 16 protein_coding, 5 nonsense_mediated_decay, 4 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000319783, ENST00000453741, ENST00000540744, ENST00000543227, ENST00000595001, ENST00000595798, ENST00000596702, ENST00000596776, ENST00000597343, ENST00000597566, ENST00000598639, ENST00000598723, ENST00000599798, ENST00000600943, ENST00000601249, ENST00000601447, ENST00000601643, ENST00000602046, ENST00000602162, ENST00000640952, ENST00000652185, ENST00000886282, ENST00000886283, ENST00000937953, ENST00000949805, ENST00000949806

RefSeq mRNA: 4 — MANE Select: NM_001161499 NM_001161499, NM_001161500, NM_001161501, NM_030972

CCDS: CCDS12855, CCDS54312

Canonical transcript exons

ENST00000652185 — 6 exons

ExonStartEnd
ENSE000022206405272990652730005
ENSE000024661545272873052728831
ENSE000025084765273500152735044
ENSE000036260485271583252715913
ENSE000038917685271401552714141
ENSE000038924515270281352706864

Expression profiles

Bgee: expression breadth ubiquitous, 275 present calls, max score 99.35.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.3169 / max 57.4145, expressed in 1383 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
1825323.12191350
1825310.195093

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
buccal mucosa cellCL:000233699.35gold quality
renal medullaUBERON:000036296.95gold quality
blood vessel layerUBERON:000479796.72gold quality
spermCL:000001996.53gold quality
cardia of stomachUBERON:000116296.13silver quality
ventral tegmental areaUBERON:000269196.03gold quality
nippleUBERON:000203095.81gold quality
male germ cellCL:000001595.73gold quality
endothelial cellCL:000011595.71gold quality
tendon of biceps brachiiUBERON:000818895.43gold quality
lateral globus pallidusUBERON:000247695.24silver quality
trigeminal ganglionUBERON:000167595.20gold quality
subthalamic nucleusUBERON:000190695.19silver quality
pylorusUBERON:000116695.15silver quality
superior surface of tongueUBERON:000737195.04gold quality
inferior vagus X ganglionUBERON:000536394.99gold quality
tracheaUBERON:000312694.46silver quality
superior vestibular nucleusUBERON:000722794.42gold quality
dorsal plus ventral thalamusUBERON:000189794.37silver quality
substantia nigra pars compactaUBERON:000196594.32silver quality
dorsal root ganglionUBERON:000004494.24gold quality
periodontal ligamentUBERON:000826694.23gold quality
vena cavaUBERON:000408794.17gold quality
superficial temporal arteryUBERON:000161494.09silver quality
substantia nigra pars reticulataUBERON:000196694.09silver quality
pericardiumUBERON:000240793.94gold quality
visceral pleuraUBERON:000240193.91gold quality
medulla oblongataUBERON:000189693.76gold quality
ponsUBERON:000098893.63gold quality
lateral nuclear group of thalamusUBERON:000273693.58silver quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-GEOD-106540no146.13
E-MTAB-10137no81.06
E-ANND-3no5.55

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TP53

miRNA regulators (miRDB)

74 targeting ZNF611, 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-3925-3P100.0069.951237
HSA-MIR-6833-3P100.0070.633197
HSA-MIR-4768-5P100.0069.492861
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-3064-3P100.0070.091254
HSA-MIR-5692A100.0074.406850
HSA-MIR-3924100.0072.092394
HSA-MIR-6873-3P100.0071.422626
HSA-MIR-371B-5P99.9975.344759
HSA-MIR-373-5P99.9875.364753
HSA-MIR-616-5P99.9875.584775
HSA-MIR-806899.9873.852376
HSA-MIR-480399.9871.993117
HSA-MIR-4715-3P99.9866.03670
HSA-MIR-1468-3P99.9672.743797
HSA-MIR-6778-3P99.9667.292693
HSA-MIR-365899.9673.874379
HSA-MIR-6845-3P99.9466.881439
HSA-MIR-515-5P99.9269.822343
HSA-MIR-519E-5P99.9269.622358
HSA-MIR-6809-3P99.9171.453814
HSA-MIR-4753-3P99.9071.033786
HSA-MIR-95-5P99.8972.173973
HSA-MIR-3140-3P99.8868.472069
HSA-MIR-450399.8571.451869
HSA-MIR-6515-3P99.8268.191933
HSA-MIR-3680-3P99.7572.513095
HSA-MIR-875-3P99.6369.472548
HSA-MIR-548AV-5P99.6070.842107
HSA-MIR-548K99.6070.842107

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 611Q8N823 (reviewed: Q8N823)

All UniProt accessions (8): A0A1W2PQH1, Q8N823, M0QXE4, M0QXQ6, M0QYR0, M0QYZ5, M0R1T1, M0R2W3

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?
Q8N823-11yes
Q8N823-22

RefSeq proteins (4): NP_001154971, NP_001154972, NP_001154973, NP_112234 (=MANE)

Domains & families (InterPro)

IDNameType
IPR001909KRABDomain
IPR013087Znf_C2H2_typeDomain
IPR036051KRAB_dom_sfHomologous_superfamily
IPR036236Znf_C2H2_sfHomologous_superfamily
IPR050758Znf_C2H2-typeFamily

Pfam: PF00096, PF01352

UniProt features (29 total): zinc finger region 17, sequence variant 5, cross-link 2, sequence conflict 2, chain 1, domain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q8N823-F164.550.01

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): 173, 221

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

IDPathway
R-HSA-212436Generic Transcription Pathway

MSigDB gene sets: 57 (showing top): RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, GINESTIER_BREAST_CANCER_ZNF217_AMPLIFIED_DN, GEORGES_TARGETS_OF_MIR192_AND_MIR215, LIU_COMMON_CANCER_GENES, HAMAI_APOPTOSIS_VIA_TRAIL_UP, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, LU_EZH2_TARGETS_DN, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, ARID5B_TARGET_GENES, ASH1L_TARGET_GENES, ELF2_TARGET_GENES, SALL4_TARGET_GENES, ZNF350_TARGET_GENES, ZNF768_TARGET_GENES, MIR616_5P

GO Biological Process (3): regulation of transcription by RNA polymerase II (GO:0006357), positive regulation of DNA-templated transcription (GO:0045893), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (6): 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), sequence-specific DNA binding (GO:0043565), metal ion binding (GO:0046872)

GO Cellular Component (2): nucleus (GO:0005634), chromosome (GO:0005694)

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 DNA-templated transcription2
DNA-templated transcription2
RNA polymerase II transcription regulatory region sequence-specific DNA binding2
transcription by RNA polymerase II1
positive regulation of RNA biosynthetic process1
regulation of gene expression1
regulation of RNA biosynthetic 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
DNA binding1
cation binding1
intracellular membrane-bounded organelle1
intracellular membraneless organelle1

Protein interactions and networks

STRING

608 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ZNF611OR5AP2Q8NGF4475
ZNF611RPP38P78345465
ZNF611NXPE3Q969Y0455
ZNF611FOXD4L6Q3SYB3448
ZNF611OR1L8Q8NGR8445
ZNF611OR8B4Q96RC9432
ZNF611HORMAD1Q86X24422
ZNF611OR5H14A6NHG9419
ZNF611FBXO48Q5FWF7400
ZNF611OR2I1Q8NGU4391
ZNF611NOX5Q96PH1390
ZNF611NUP62CLQ9H1M0376
ZNF611THOC5Q13769374
ZNF611RSPH10BP0C881368
ZNF611OR4D10Q8NGI6368

IntAct

11 interactions, top by confidence:

ABTypeScore
TRIM28ZNF316psi-mi:“MI:0914”(association)0.530
TRIM28ZNF320psi-mi:“MI:0914”(association)0.530
ZNF611H2BC9psi-mi:“MI:0915”(physical association)0.400
ZNF611H2BC21psi-mi:“MI:0915”(physical association)0.400
ZNF611H2AC4psi-mi:“MI:0915”(physical association)0.400
KLF8psi-mi:“MI:0914”(association)0.350
ZNF611IPO8psi-mi:“MI:0914”(association)0.350
MAGEA9CIBAR1psi-mi:“MI:0914”(association)0.350
NOTCH2ZNF320psi-mi:“MI:0914”(association)0.350
LTBP2ZNF320psi-mi:“MI:0914”(association)0.350

BioGRID (14): ZNF611 (Affinity Capture-RNA), ZNF611 (Affinity Capture-MS), ZNF611 (Proximity Label-MS), ZNF611 (Proximity Label-MS), HIST1H2BH (Proximity Label-MS), ZNF611 (Affinity Capture-MS), ZNF611 (Affinity Capture-MS), ZNF611 (Affinity Capture-MS), ZNF611 (Affinity Capture-MS), ZNF611 (Affinity Capture-MS), ZNF611 (Affinity Capture-MS), ZNF611 (Affinity Capture-MS), ZNF611 (Affinity Capture-MS), ZNF611 (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, A2RRD8, A2VDQ7, A6NHJ4, A6NK75, A6NN14, A6NNF4, A6NP11, B4DX44, B4DXR9, E9PW05, O14628, O43345, O75290, O75346, O75373, O75820, P0CB33, P0CJ79, P0DKX0, P10755, P17032, P17035, P52738, Q02386, Q03923, Q03936, Q05481, Q08AN1, Q09FC8, Q0VGE8, Q14586, Q14593, Q147U1, Q15928, Q3MIS6, Q3SXZ3, Q494X3, Q4R6C2, Q5HY98

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance132
Likely benign10
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1256 predictions. Top by Δscore:

VariantEffectΔscore
19:52714008:T:Adonor_gain1.0000
19:52714017:ACAG:Adonor_gain1.0000
19:52714018:CAGC:Cdonor_gain1.0000
19:52714053:T:TAdonor_gain1.0000
19:52714054:C:Adonor_gain1.0000
19:52715911:ATCC:Aacceptor_loss1.0000
19:52715912:TC:Tacceptor_gain1.0000
19:52715912:TCCT:Tacceptor_loss1.0000
19:52715913:CC:Cacceptor_gain1.0000
19:52715914:C:CAacceptor_loss1.0000
19:52715915:T:Cacceptor_loss1.0000
19:52715918:A:Cacceptor_gain1.0000
19:52715920:G:Cacceptor_gain1.0000
19:52715920:G:GCacceptor_gain1.0000
19:52715822:A:ACdonor_gain0.9900
19:52715828:T:TAdonor_gain0.9900
19:52715859:T:Adonor_gain0.9900
19:52715909:CAATC:Cacceptor_gain0.9900
19:52715910:AATC:Aacceptor_gain0.9900
19:52715914:C:CCacceptor_gain0.9900
19:52715918:A:ACacceptor_gain0.9900
19:52730008:G:Cacceptor_gain0.9900
19:52734997:TCA:Tdonor_loss0.9900
19:52734998:CACC:Cdonor_loss0.9900
19:52734999:ACC:Adonor_loss0.9900
19:52735000:C:CGdonor_loss0.9900
19:52706862:TAT:Tacceptor_gain0.9800
19:52713986:C:CAdonor_gain0.9800
19:52714013:AC:Adonor_gain0.9800
19:52714014:CC:Cdonor_gain0.9800

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000010703 (19:52713600 A>C), RS1000029874 (19:52734911 T>C,G), RS1000035996 (19:52734130 A>G), RS1000063247 (19:52713800 A>G), RS1000111104 (19:52733167 G>A,C), RS1000120412 (19:52708978 T>C), RS1000208092 (19:52725567 G>C), RS1000243368 (19:52709202 A>C), RS1000496112 (19:52730962 G>A,C), RS1000551871 (19:52726230 C>T), RS1000614550 (19:52705001 T>C), RS1000654693 (19:52735211 C>T), RS1000720933 (19:52734410 G>A), RS1000722284 (19:52720329 G>A), RS1000775997 (19:52729901 C>A)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:300143

GenCC curated gene-disease

Mondo (1): intellectual disability, X-linked 21 (MONDO:0010256)

Orphanet (1): X-linked non-syndromic intellectual disability (Orphanet:777)

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

23 total (human), top 23 by PubMed support.

ChemicalActions (top 5)PubMed papers
Smokedecreases expression2
Aflatoxin B1increases methylation2
GSK-J4decreases expression1
TAK-243increases sumoylation1
triphenyl phosphateaffects expression1
geraniolincreases expression1
arseniteaffects binding, decreases reaction1
sodium arseniteincreases expression1
ferrous chloridedecreases expression1
di-n-butylphosphoric acidaffects expression1
perfluorooctane sulfonic aciddecreases expression1
abrinedecreases expression1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amidedecreases expression, affects cotreatment1
Resveratrolaffects cotreatment, increases expression1
Arsenicaffects methylation1
Benzo(a)pyrenedecreases methylation, increases methylation1
Doxorubicindecreases expression1
Drugs, Chinese Herbalincreases expression1
Formaldehydeincreases expression1
Naphthoquinonesincreases expression1
Niclosamidedecreases expression1
Plant Extractsaffects cotreatment, increases expression1
Tetrachlorodibenzodioxinaffects cotreatment, decreases 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): intellectual disability, X-linked 21