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ZBTB48 (zinc finger and BTB domain containing 48)

Identity

Alias (NCBI)HKR3
TZAP
ZNF855
pp9964
HGNC (Hugo) ZBTB48
HGNC Alias symbZNF855
TZAP
HGNC Alias nametelomeric zinc finger-associated protein
HGNC Previous nameHKR3
HGNC Previous nameGLI-Kruppel family member HKR3
LocusID (NCBI) 3104
Atlas_Id 40830
Location 1p36.31  [Link to chromosome band 1p36]
Location_base_pair Starts at 6579994 and ends at 6589280 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)
ZBTB48 (1p36.31) / ESPN (1p36.31)ZBTB48 (1p36.31) / TAS1R1 (1p36.31)ZBTB48 1p36.31 / ESPN 1p36.31
ZBTB48 1p36.31 / TAS1R1 1p36.31

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

 



External links

 

Nomenclature
HGNC (Hugo)ZBTB48   4930
Cards
Entrez_Gene (NCBI)ZBTB48    zinc finger and BTB domain containing 48
AliasesHKR3; TZAP; ZNF855; pp9964
GeneCards (Weizmann)ZBTB48
Ensembl hg19 (Hinxton)ENSG00000204859 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000204859 [Gene_View]  ENSG00000204859 [Sequence]  chr1:6579994-6589280 [Contig_View]  ZBTB48 [Vega]
ICGC DataPortalENSG00000204859
TCGA cBioPortalZBTB48
AceView (NCBI)ZBTB48
Genatlas (Paris)ZBTB48
SOURCE (Princeton)ZBTB48
Genetics Home Reference (NIH)ZBTB48
Genomic and cartography
GoldenPath hg38 (UCSC)ZBTB48  -     chr1:6579994-6589280 +  1p36.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ZBTB48  -     1p36.31   [Description]    (hg19-Feb_2009)
GoldenPathZBTB48 - 1p36.31 [CytoView hg19]  ZBTB48 - 1p36.31 [CytoView hg38]
ImmunoBaseENSG00000204859
Genome Data Viewer NCBIZBTB48 [Mapview hg19]  
OMIM165270   
Gene and transcription
Genbank (Entrez)AA765826 AF318381 AK290156 AK312786 BC013573
RefSeq transcript (Entrez)NM_001278647 NM_001278648 NM_005341
Consensus coding sequences : CCDS (NCBI)ZBTB48
Gene ExpressionZBTB48 [ NCBI-GEO ]   ZBTB48 [ EBI - ARRAY_EXPRESS ]   ZBTB48 [ SEEK ]   ZBTB48 [ MEM ]
Gene Expression Viewer (FireBrowse)ZBTB48 [ Firebrowse - Broad ]
GenevisibleExpression of ZBTB48 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3104
GTEX Portal (Tissue expression)ZBTB48
Human Protein AtlasENSG00000204859-ZBTB48 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP10074   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP10074  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP10074
PhosPhoSitePlusP10074
Domaine pattern : Prosite (Expaxy)BTB (PS50097)    ZINC_FINGER_C2H2_1 (PS00028)    ZINC_FINGER_C2H2_2 (PS50157)   
Domains : Interpro (EBI)BTB/POZ_dom    SKP1/BTB/POZ_sf    Znf_C2H2_sf    Znf_C2H2_type   
Domain families : Pfam (Sanger)BTB (PF00651)    zf-C2H2 (PF00096)   
Domain families : Pfam (NCBI)pfam00651    pfam00096   
Domain families : Smart (EMBL)BTB (SM00225)  ZnF_C2H2 (SM00355)  
Conserved Domain (NCBI)ZBTB48
PDB (RSDB)3B84    5YJ3   
PDB Europe3B84    5YJ3   
PDB (PDBSum)3B84    5YJ3   
PDB (IMB)3B84    5YJ3   
Structural Biology KnowledgeBase3B84    5YJ3   
SCOP (Structural Classification of Proteins)3B84    5YJ3   
CATH (Classification of proteins structures)3B84    5YJ3   
SuperfamilyP10074
AlphaFold pdb e-kbP10074   
Human Protein Atlas [tissue]ENSG00000204859-ZBTB48 [tissue]
HPRD01316
Protein Interaction databases
DIP (DOE-UCLA)P10074
IntAct (EBI)P10074
BioGRIDZBTB48
STRING (EMBL)ZBTB48
ZODIACZBTB48
Ontologies - Pathways
QuickGOP10074
Ontology : AmiGOchromosome, telomeric region  transcription cis-regulatory region binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  double-stranded telomeric DNA binding  DNA-binding transcription factor activity  protein binding  nucleus  regulation of transcription by RNA polymerase II  telomere maintenance via telomere lengthening  identical protein binding  positive regulation of transcription, DNA-templated  metal ion binding  
Ontology : EGO-EBIchromosome, telomeric region  transcription cis-regulatory region binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  double-stranded telomeric DNA binding  DNA-binding transcription factor activity  protein binding  nucleus  regulation of transcription by RNA polymerase II  telomere maintenance via telomere lengthening  identical protein binding  positive regulation of transcription, DNA-templated  metal ion binding  
NDEx NetworkZBTB48
Atlas of Cancer Signalling NetworkZBTB48
Wikipedia pathwaysZBTB48
Orthology - Evolution
OrthoDB3104
GeneTree (enSembl)ENSG00000204859
Phylogenetic Trees/Animal Genes : TreeFamZBTB48
Homologs : HomoloGeneZBTB48
Homology/Alignments : Family Browser (UCSC)ZBTB48
Gene fusions - Rearrangements
Fusion : MitelmanZBTB48/ESPN [1p36.31/1p36.31]  
Fusion : MitelmanZBTB48/TAS1R1 [1p36.31/1p36.31]  
Fusion : QuiverZBTB48
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerZBTB48 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ZBTB48
dbVarZBTB48
ClinVarZBTB48
MonarchZBTB48
1000_GenomesZBTB48 
Exome Variant ServerZBTB48
GNOMAD BrowserENSG00000204859
Varsome BrowserZBTB48
ACMGZBTB48 variants
VarityP10074
Genomic Variants (DGV)ZBTB48 [DGVbeta]
DECIPHERZBTB48 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisZBTB48 
Mutations
ICGC Data PortalZBTB48 
TCGA Data PortalZBTB48 
Broad Tumor PortalZBTB48
OASIS PortalZBTB48 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICZBTB48  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DZBTB48
Mutations and Diseases : HGMDZBTB48
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaZBTB48
DgiDB (Drug Gene Interaction Database)ZBTB48
DoCM (Curated mutations)ZBTB48
CIViC (Clinical Interpretations of Variants in Cancer)ZBTB48
Cancer3DZBTB48
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM165270   
Orphanet
DisGeNETZBTB48
MedgenZBTB48
Genetic Testing Registry ZBTB48
NextProtP10074 [Medical]
GENETestsZBTB48
Target ValidationZBTB48
Huge Navigator ZBTB48 [HugePedia]
ClinGenZBTB48
Clinical trials, drugs, therapy
MyCancerGenomeZBTB48
Protein Interactions : CTDZBTB48
Pharm GKB GenePA162409481
PharosP10074
Clinical trialZBTB48
Miscellaneous
canSAR (ICR)ZBTB48
HarmonizomeZBTB48
DataMed IndexZBTB48
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXZBTB48
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:38:47 CEST 2021

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