ZNF611
gene geneOn this page
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
| Field | Value |
|---|---|
| HGNC ID | HGNC:28766 |
| Approved symbol | ZNF611 |
| Name | zinc finger protein 611 |
| Location | 19q13.41 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC5384 |
| Ensembl gene | ENSG00000213020 |
| Ensembl biotype | protein_coding |
| Entrez | 81856 |
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
| Exon | Start | End |
|---|---|---|
| ENSE00002220640 | 52729906 | 52730005 |
| ENSE00002466154 | 52728730 | 52728831 |
| ENSE00002508476 | 52735001 | 52735044 |
| ENSE00003626048 | 52715832 | 52715913 |
| ENSE00003891768 | 52714015 | 52714141 |
| ENSE00003892451 | 52702813 | 52706864 |
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 ID | TPM avg | Samples expressed |
|---|---|---|
| 182532 | 3.1219 | 1350 |
| 182531 | 0.1950 | 93 |
Top tissues by expression
282 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 99.35 | gold quality |
| renal medulla | UBERON:0000362 | 96.95 | gold quality |
| blood vessel layer | UBERON:0004797 | 96.72 | gold quality |
| sperm | CL:0000019 | 96.53 | gold quality |
| cardia of stomach | UBERON:0001162 | 96.13 | silver quality |
| ventral tegmental area | UBERON:0002691 | 96.03 | gold quality |
| nipple | UBERON:0002030 | 95.81 | gold quality |
| male germ cell | CL:0000015 | 95.73 | gold quality |
| endothelial cell | CL:0000115 | 95.71 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 95.43 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 95.24 | silver quality |
| trigeminal ganglion | UBERON:0001675 | 95.20 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 95.19 | silver quality |
| pylorus | UBERON:0001166 | 95.15 | silver quality |
| superior surface of tongue | UBERON:0007371 | 95.04 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 94.99 | gold quality |
| trachea | UBERON:0003126 | 94.46 | silver quality |
| superior vestibular nucleus | UBERON:0007227 | 94.42 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 94.37 | silver quality |
| substantia nigra pars compacta | UBERON:0001965 | 94.32 | silver quality |
| dorsal root ganglion | UBERON:0000044 | 94.24 | gold quality |
| periodontal ligament | UBERON:0008266 | 94.23 | gold quality |
| vena cava | UBERON:0004087 | 94.17 | gold quality |
| superficial temporal artery | UBERON:0001614 | 94.09 | silver quality |
| substantia nigra pars reticulata | UBERON:0001966 | 94.09 | silver quality |
| pericardium | UBERON:0002407 | 93.94 | gold quality |
| visceral pleura | UBERON:0002401 | 93.91 | gold quality |
| medulla oblongata | UBERON:0001896 | 93.76 | gold quality |
| pons | UBERON:0000988 | 93.63 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 93.58 | silver quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-106540 | no | 146.13 |
| E-MTAB-10137 | no | 81.06 |
| E-ANND-3 | no | 5.55 |
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):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-4715-3P | 99.98 | 66.03 | 670 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-3140-3P | 99.88 | 68.47 | 2069 |
| HSA-MIR-4503 | 99.85 | 71.45 | 1869 |
| HSA-MIR-6515-3P | 99.82 | 68.19 | 1933 |
| HSA-MIR-3680-3P | 99.75 | 72.51 | 3095 |
| HSA-MIR-875-3P | 99.63 | 69.47 | 2548 |
| HSA-MIR-548AV-5P | 99.60 | 70.84 | 2107 |
| HSA-MIR-548K | 99.60 | 70.84 | 2107 |
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 611 — Q8N823 (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 ID | Names | Canonical? |
|---|---|---|
| Q8N823-1 | 1 | yes |
| Q8N823-2 | 2 |
RefSeq proteins (4): NP_001154971, NP_001154972, NP_001154973, NP_112234 (=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
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)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N823-F1 | 64.55 | 0.01 |
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
| ID | Pathway |
|---|---|
| R-HSA-212436 | Generic 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:
| Category | Pathways |
|---|---|
| RNA Polymerase II Transcription | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of DNA-templated transcription | 2 |
| DNA-templated transcription | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| transcription by RNA polymerase II | 1 |
| positive regulation of RNA biosynthetic process | 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 |
| DNA binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
608 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF611 | OR5AP2 | Q8NGF4 | 475 |
| ZNF611 | RPP38 | P78345 | 465 |
| ZNF611 | NXPE3 | Q969Y0 | 455 |
| ZNF611 | FOXD4L6 | Q3SYB3 | 448 |
| ZNF611 | OR1L8 | Q8NGR8 | 445 |
| ZNF611 | OR8B4 | Q96RC9 | 432 |
| ZNF611 | HORMAD1 | Q86X24 | 422 |
| ZNF611 | OR5H14 | A6NHG9 | 419 |
| ZNF611 | FBXO48 | Q5FWF7 | 400 |
| ZNF611 | OR2I1 | Q8NGU4 | 391 |
| ZNF611 | NOX5 | Q96PH1 | 390 |
| ZNF611 | NUP62CL | Q9H1M0 | 376 |
| ZNF611 | THOC5 | Q13769 | 374 |
| ZNF611 | RSPH10B | P0C881 | 368 |
| ZNF611 | OR4D10 | Q8NGI6 | 368 |
IntAct
11 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TRIM28 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| TRIM28 | ZNF320 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF611 | H2BC9 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZNF611 | H2BC21 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZNF611 | H2AC4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| KLF8 | psi-mi:“MI:0914”(association) | 0.350 | |
| ZNF611 | IPO8 | psi-mi:“MI:0914”(association) | 0.350 |
| MAGEA9 | CIBAR1 | psi-mi:“MI:0914”(association) | 0.350 |
| NOTCH2 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| LTBP2 | ZNF320 | psi-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):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 132 |
| Likely benign | 10 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1256 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:52714008:T:A | donor_gain | 1.0000 |
| 19:52714017:ACAG:A | donor_gain | 1.0000 |
| 19:52714018:CAGC:C | donor_gain | 1.0000 |
| 19:52714053:T:TA | donor_gain | 1.0000 |
| 19:52714054:C:A | donor_gain | 1.0000 |
| 19:52715911:ATCC:A | acceptor_loss | 1.0000 |
| 19:52715912:TC:T | acceptor_gain | 1.0000 |
| 19:52715912:TCCT:T | acceptor_loss | 1.0000 |
| 19:52715913:CC:C | acceptor_gain | 1.0000 |
| 19:52715914:C:CA | acceptor_loss | 1.0000 |
| 19:52715915:T:C | acceptor_loss | 1.0000 |
| 19:52715918:A:C | acceptor_gain | 1.0000 |
| 19:52715920:G:C | acceptor_gain | 1.0000 |
| 19:52715920:G:GC | acceptor_gain | 1.0000 |
| 19:52715822:A:AC | donor_gain | 0.9900 |
| 19:52715828:T:TA | donor_gain | 0.9900 |
| 19:52715859:T:A | donor_gain | 0.9900 |
| 19:52715909:CAATC:C | acceptor_gain | 0.9900 |
| 19:52715910:AATC:A | acceptor_gain | 0.9900 |
| 19:52715914:C:CC | acceptor_gain | 0.9900 |
| 19:52715918:A:AC | acceptor_gain | 0.9900 |
| 19:52730008:G:C | acceptor_gain | 0.9900 |
| 19:52734997:TCA:T | donor_loss | 0.9900 |
| 19:52734998:CACC:C | donor_loss | 0.9900 |
| 19:52734999:ACC:A | donor_loss | 0.9900 |
| 19:52735000:C:CG | donor_loss | 0.9900 |
| 19:52706862:TAT:T | acceptor_gain | 0.9800 |
| 19:52713986:C:CA | donor_gain | 0.9800 |
| 19:52714013:AC:A | donor_gain | 0.9800 |
| 19:52714014:CC:C | donor_gain | 0.9800 |
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.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Smoke | decreases expression | 2 |
| Aflatoxin B1 | increases methylation | 2 |
| GSK-J4 | decreases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| geraniol | increases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| sodium arsenite | increases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| abrine | decreases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | decreases expression, affects cotreatment | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | decreases methylation, increases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Drugs, Chinese Herbal | increases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Naphthoquinones | increases expression | 1 |
| Niclosamide | decreases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Tetrachlorodibenzodioxin | affects cotreatment, decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- 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