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BTBD18 (BTB domain containing 18)

Identity

Alias (NCBI)-
HGNC (Hugo) BTBD18
HGNC Previous nameBTB (POZ) domain containing 18
LocusID (NCBI) 643376
Atlas_Id 54064
Location 11q12.1  [Link to chromosome band 11q12]
Location_base_pair Starts at 57743514 and ends at 57751781 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
BTBD18 (11q12.1) / KMT2A (11q23.3)KMT2A (11q23.3) / BTBD18 (11q12.1)KMT2A 11q23.3 / BTBD18 11q12.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  inv(11)(q13q23) KMT2A/BTBD18


External links

 

Nomenclature
HGNC (Hugo)BTBD18   37214
Cards
Entrez_Gene (NCBI)BTBD18    BTB domain containing 18
Aliases
GeneCards (Weizmann)BTBD18
Ensembl hg19 (Hinxton)ENSG00000233436 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000233436 [Gene_View]  ENSG00000233436 [Sequence]  chr11:57743514-57751781 [Contig_View]  BTBD18 [Vega]
ICGC DataPortalENSG00000233436
TCGA cBioPortalBTBD18
AceView (NCBI)BTBD18
Genatlas (Paris)BTBD18
SOURCE (Princeton)BTBD18
Genetics Home Reference (NIH)BTBD18
Genomic and cartography
GoldenPath hg38 (UCSC)BTBD18  -     chr11:57743514-57751781 -  11q12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BTBD18  -     11q12.1   [Description]    (hg19-Feb_2009)
GoldenPathBTBD18 - 11q12.1 [CytoView hg19]  BTBD18 - 11q12.1 [CytoView hg38]
ImmunoBaseENSG00000233436
Genome Data Viewer NCBIBTBD18 [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AI699344 BC157853 BC157854 DC346943
RefSeq transcript (Entrez)NM_001145101
Consensus coding sequences : CCDS (NCBI)BTBD18
Gene ExpressionBTBD18 [ NCBI-GEO ]   BTBD18 [ EBI - ARRAY_EXPRESS ]   BTBD18 [ SEEK ]   BTBD18 [ MEM ]
Gene Expression Viewer (FireBrowse)BTBD18 [ Firebrowse - Broad ]
GenevisibleExpression of BTBD18 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)643376
GTEX Portal (Tissue expression)BTBD18
Human Protein AtlasENSG00000233436-BTBD18 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtB2RXH4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtB2RXH4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProB2RXH4
PhosPhoSitePlusB2RXH4
Domaine pattern : Prosite (Expaxy)BTB (PS50097)   
Domains : Interpro (EBI)BTB/POZ_dom    BTBD18    SKP1/BTB/POZ_sf   
Domain families : Pfam (Sanger)BTB (PF00651)   
Domain families : Pfam (NCBI)pfam00651   
Domain families : Smart (EMBL)BTB (SM00225)  
Conserved Domain (NCBI)BTBD18
SuperfamilyB2RXH4
AlphaFold pdb e-kbB2RXH4   
Human Protein Atlas [tissue]ENSG00000233436-BTBD18 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)B2RXH4
IntAct (EBI)B2RXH4
BioGRIDBTBD18
STRING (EMBL)BTBD18
ZODIACBTBD18
Ontologies - Pathways
QuickGOB2RXH4
Ontology : AmiGOprotein binding  nucleus  nucleus  male meiosis I  spermatogenesis  negative regulation of transposition  negative regulation of transposition  cell differentiation  positive regulation of transcription elongation from RNA polymerase II promoter  positive regulation of transcription elongation from RNA polymerase II promoter  piRNA biosynthetic process  piRNA biosynthetic process  
Ontology : EGO-EBIprotein binding  nucleus  nucleus  male meiosis I  spermatogenesis  negative regulation of transposition  negative regulation of transposition  cell differentiation  positive regulation of transcription elongation from RNA polymerase II promoter  positive regulation of transcription elongation from RNA polymerase II promoter  piRNA biosynthetic process  piRNA biosynthetic process  
NDEx NetworkBTBD18
Atlas of Cancer Signalling NetworkBTBD18
Wikipedia pathwaysBTBD18
Orthology - Evolution
OrthoDB643376
GeneTree (enSembl)ENSG00000233436
Phylogenetic Trees/Animal Genes : TreeFamBTBD18
Homologs : HomoloGeneBTBD18
Homology/Alignments : Family Browser (UCSC)BTBD18
Gene fusions - Rearrangements
Fusion : QuiverBTBD18
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBTBD18 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BTBD18
dbVarBTBD18
ClinVarBTBD18
MonarchBTBD18
1000_GenomesBTBD18 
Exome Variant ServerBTBD18
GNOMAD BrowserENSG00000233436
Varsome BrowserBTBD18
ACMGBTBD18 variants
VarityB2RXH4
Genomic Variants (DGV)BTBD18 [DGVbeta]
DECIPHERBTBD18 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBTBD18 
Mutations
ICGC Data PortalBTBD18 
TCGA Data PortalBTBD18 
Broad Tumor PortalBTBD18
OASIS PortalBTBD18 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBTBD18  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DBTBD18
Mutations and Diseases : HGMDBTBD18
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaBTBD18
DgiDB (Drug Gene Interaction Database)BTBD18
DoCM (Curated mutations)BTBD18
CIViC (Clinical Interpretations of Variants in Cancer)BTBD18
Cancer3DBTBD18
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETBTBD18
MedgenBTBD18
Genetic Testing Registry BTBD18
NextProtB2RXH4 [Medical]
GENETestsBTBD18
Target ValidationBTBD18
Huge Navigator BTBD18 [HugePedia]
ClinGenBTBD18
Clinical trials, drugs, therapy
MyCancerGenomeBTBD18
Protein Interactions : CTDBTBD18
Pharm GKB GenePA165543229
PharosB2RXH4
Clinical trialBTBD18
Miscellaneous
canSAR (ICR)BTBD18
HarmonizomeBTBD18
DataMed IndexBTBD18
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXBTBD18
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:01:31 CEST 2021

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