ZBTB18 (zinc finger and BTB domain containing 18)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10472
Gene name Gene Name - the full gene name approved by the HGNC.
Zinc finger and BTB domain containing 18
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ZBTB18
Synonyms (NCBI Gene) Gene synonyms aliases
C1DELq42q44, C1DELq43q44, C2H2-171, DEL1Q42Q44, DEL1Q43Q44, MRD22, RP58, TAZ-1, ZNF238
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q44
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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-PCR, Western blot 18684991
MIRT003042 hsa-miR-338-3p qRT-PCR, Western blot 18684991
MIRT003042 hsa-miR-338-3p qRT-PCR, Western blot 18684991
MIRT003042 hsa-miR-338-3p qRT-PCR, Western blot 18684991
MIRT016212 hsa-miR-590-3p Sequencing 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
608433 13030 ENSG00000179456
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental retardation Intellectual disability, autosomal dominant 22, intellectual disability rs1572531830, rs875989786, rs1572531281, rs1085307109, rs1572531730, rs1085307108, rs376898131, rs1060499655, rs1064792999, rs1135401770, rs750922282, rs398122406, rs1553270640, rs797044885, rs1553270599
View all (2 more)		 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Neurodevelopmental Disorders complex neurodevelopmental disorder N/A N/A GenCC
Ovarian cancer Epithelial ovarian cancer N/A N/A GWAS
Show/Hide Text Mining Associations (19)
Associations from Text Mining Disease 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