ZBTB18 (zinc finger and BTB domain containing 18)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 10472
Gene name Zinc finger and BTB domain containing 18
Gene symbol ZBTB18
Synonyms (NCBI Gene)
C1DELq42q44C1DELq43q44C2H2-171DEL1Q42Q44DEL1Q43Q44MRD22RP58TAZ-1ZNF238
Chromosome 1
Chromosome location 1q44
Summary This gene encodes a C2H2-type zinc finger protein which acts a transcriptional repressor of genes involved in neuronal development. The encoded protein recognizes a specific sequence motif and recruits components of chromatin to target genes. Alternative
SNPs SNP information provided by dbSNP.
27
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (27)
SNP ID Visualize variation Clinical significance Consequence
rs398122406 G>T Pathogenic Coding sequence variant, stop gained
rs750922282 C>A,T Pathogenic Coding sequence variant, missense variant
rs797044885 A>C,G Pathogenic, likely-pathogenic Missense variant, coding sequence variant
rs869312689 T>C Likely-pathogenic Missense variant, coding sequence variant
rs875989785 G>- Likely-pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
660
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (660)
miRTarBase ID miRNA Experiments Reference
MIRT003042 hsa-miR-338-3p qRT-PCRWestern blot 18684991
MIRT003042 hsa-miR-338-3p qRT-PCRWestern blot 18684991
MIRT003042 hsa-miR-338-3p qRT-PCRWestern blot 18684991
MIRT003042 hsa-miR-338-3p qRT-PCRWestern blot 18684991
MIRT016212 hsa-miR-590-3p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (23)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 9756912
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000792 Component Heterochromatin IDA 9756912
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
608433 13030 ENSG00000179456
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99592
Protein name Zinc finger and BTB domain-containing protein 18 (58 kDa repressor protein) (Transcriptional repressor RP58) (Translin-associated zinc finger protein 1) (TAZ-1) (Zinc finger protein 238) (Zinc finger protein C2H2-171)
Protein function Transcriptional repressor that plays a role in various developmental processes such as myogenesis and brain development. Plays a key role in myogenesis by directly repressing the expression of ID2 and ID3, 2 inhibitors of skeletal myogenesis. Al
PDB 8P2P
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 14 → 121 BTB/POZ domain Domain
PF00096 zf-C2H2 370 → 392 Zinc finger, C2H2 type Domain
PF13894 zf-C2H2_4 410 → 433 Domain
PF00096 zf-C2H2 438 → 460 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 466 → 489 Zinc finger, C2H2 type Domain
Tissue specificity TISSUE SPECIFICITY: Lymphoid tissues, testis, heart, brain, skeletal muscle, and pancreas and, at much lower level, other tissues.
Sequence 
MEFPDHSRHLLQCLSEQRHQGFLCDCTVLVGDAQFRAHRAVLASCSMYFHLFYKDQLDKR
DIVHLNSDIVTAPAFALLLEFMYEGKLQFKDLPIEDVLAAASYLHMYDIVKVCKKKLKEK
ATTEADSTKKEEDASSCSDKVESLSDGSSHIAGDLPSDEDEGEDEKLNILPSKRDLAAEP
GNMWMRLPSDSAGIPQAGGEAEPHATAAGKTVASPCSSTESLSQRSVTSVRDSADVDCVL
DLSVKSSLSGVENLNSSYFSSQDVLRSNLVQVKVEKEASCDESDVGTNDYDMEHSTVKES
VSTNNRVQYEPAHLAPLREDSVLRELDREDKASDDEMMTPESERVQVEGGMESSLLPYVS
NILSPAGQIFMCPLCNKVFPSPHILQIHLSTHFREQDGIRSKPAADVNVPTCSLCGKTFS
CMYTLKRHERTHSGEKPYTCTQCGKSFQYSHNLSRHAVVHTREKPHACKWCERRFTQSGD
LYRHIRKFHCELVNSLSVKSEALSLPTVRDWTLEDSSQELWK
Sequence length 522
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (8)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Developmental delay Likely pathogenic rs2527554548 RCV003154291
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability Likely pathogenic; Pathogenic rs1558149913, rs797044885 RCV004556095
RCV001251046
RCV005626193
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, autosomal dominant 22 Likely pathogenic; Pathogenic rs1698434969, rs1698437148, rs2148557675, rs2148557787, rs2148556437, rs2148556497, rs763141634, rs2148557361, rs1558149913, rs2148557671, rs2527555293, rs2527557851, rs2527560158, rs2527557595, rs2527561750
View all (28 more)		 RCV002287597
RCV001334766
RCV002246354
RCV005416125
RCV001771787
View all (40 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Marfanoid habitus and intellectual disability Likely pathogenic rs1553270599 RCV000850452
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (8)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CHROMOSOME 1Q43-Q44 DELETION SYNDROME — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER — ClinGen, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DISTAL DELETION 1Q SYNDROME — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DISTAL MONOSOMY 1Q SYNDROME — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (52)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult Medulloblastoma Medulloblastoma BEFREE 20103640
★★★★★
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 20382278, 24193349
★★★★★
★☆☆☆☆
Found in Text Mining only
Agenesis of Corpus Callosum Corpus callosum agenesis Pubtator 28283832, 29573576 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 26730956
★★★★★
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 20103640, 22095278
★★★★★
★☆☆☆☆
Found in Text Mining only
Childhood Medulloblastoma Medulloblastoma BEFREE 20103640
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 33892786 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital contractural arachnodactyly Congenital contractural arachnodactyly Pubtator 21934713 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital Epicanthus Congenital Epicanthus HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only