Gene Gene information from NCBI Gene database.
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
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
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
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.
MIM HGNC e!Ensembl
608433 13030 ENSG00000179456
Protein Protein information from UniProt database.
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
A
TTEADSTKKEEDASSCSDKVESLSDGSSHIAGDLPSDEDEGEDEKLNILPSKRDLAAEP
GNMWMRLPSDSAGIPQAGGEAEPHATAAGKTVASPCSSTESLSQRSVTSVRDSADVDCVL
DLSVKSSLSGVENLNSSYFSSQDVLRSNLVQVKVEKEASCDESDVGTNDYDMEHSTVKES
VSTNNRVQYEPAHLAPLREDSVLRELDREDKASDDEMMTPESERVQVEGGMESSLLPYVS
NILSPAGQIFMCPLCNKVFPSPHILQIHLSTHFREQDGIRSKPAADVNVPTCSLCGKTFS
CMYTLKRHERTHS
GEKPYTCTQCGKSFQYSHNLSRHAVVHTREKPHACKWCERRFTQSGD
LYRHIRKFH
CELVNSLSVKSEALSLPTVRDWTLEDSSQELWK
Sequence length 522
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
101
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Developmental delay Likely pathogenic rs2527554548 RCV003154291
Intellectual disability Likely pathogenic; Pathogenic rs1558149913, rs797044885 RCV004556095
RCV001251046
RCV005626193
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
RCV001808296
RCV002226898
RCV002227706
RCV002251239
RCV002273250
RCV002280350
RCV002290349
RCV002463414
RCV002465457
RCV002466384
RCV000509044
RCV000209846
RCV000509045
RCV002285014
RCV000509052
RCV002789981
RCV002810030
RCV003128090
RCV003234859
RCV003335808
RCV004595121
RCV000449542
RCV000477670
RCV000496174
RCV000509048
RCV000656553
RCV000677642
RCV000754089
RCV000825017
RCV000986581
RCV000995917
RCV001095656
RCV000074444
RCV001252637
RCV001252638
RCV001253311
RCV002291296
RCV005866911
RCV001270416
RCV001281097
Marfanoid habitus and intellectual disability Likely pathogenic rs1553270599 RCV000850452
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Agenesis of Corpus Callosum Associate 28283832, 29573576
Callosities Associate 21934713
Colorectal Neoplasms Inhibit 33892786
Congenital contractural arachnodactyly Associate 21934713
Developmental Disabilities Associate 26740508, 31238879, 33004838
Facial Neoplasms Associate 29573576
Glioblastoma Inhibit 28512252
Glioblastoma Associate 36414381
Growth Disorders Associate 29573576
Huntington Disease Associate 25626709