Atlas of Genetics and Cytogenetics in Oncology and Haematology

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PHLDB2 (pleckstrin homology like domain family B member 2)

Identity

Alias_namespleckstrin homology-like domain, family B, member 2
Alias_symbol (synonym)LL5beta
FLJ21791
LL5b
Other alias
HGNC (Hugo) PHLDB2
LocusID (NCBI) 90102
Atlas_Id 51562
Location 3q13.2  [Link to chromosome band 3q13]
Location_base_pair Starts at 111859180 and ends at 111976517 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)
FUS (16p11.2) / PHLDB2 (3q13.2)IMMP2L (7q31.1) / PHLDB2 (3q13.2)PHLDB2 (3q13.2) / CD96 (3q13.13)
PHLDB2 (3q13.2) / KCNAB1 (3q25.31)PHLDB2 (3q13.2) / PNN (14q21.1)PHLDB2 (3q13.2) / RBM47 (4p14)
PHLDB2 (3q13.2) / RIMS2 (8q22.3)TRIQK (8q22.1) / PHLDB2 (3q13.2)PHLDB2 3q13.2 / CD96 3q13.13
PHLDB2 3q13.2 / KCNAB1 3q25.31PHLDB2 3q13.2 / RIMS2 8q22.3

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  PHLDB2/CD96 (3q13)
t(3;3)(q13;q25) PHLDB2/KCNAB1
t(3;8)(q13;q22) PHLDB2/RIMS2

External links

Nomenclature
HGNC (Hugo)PHLDB2   29573
Cards
Entrez_Gene (NCBI)PHLDB2  90102  pleckstrin homology like domain family B member 2
AliasesLL5b; LL5beta
GeneCards (Weizmann)PHLDB2
Ensembl hg19 (Hinxton)ENSG00000144824 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000144824 [Gene_View]  ENSG00000144824 [Sequence]  chr3:111859180-111976517 [Contig_View]  PHLDB2 [Vega]
ICGC DataPortalENSG00000144824
TCGA cBioPortalPHLDB2
AceView (NCBI)PHLDB2
Genatlas (Paris)PHLDB2
WikiGenes90102
SOURCE (Princeton)PHLDB2
Genetics Home Reference (NIH)PHLDB2
Genomic and cartography
GoldenPath hg38 (UCSC)PHLDB2  -     chr3:111859180-111976517 +  3q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PHLDB2  -     3q13.2   [Description]    (hg19-Feb_2009)
GoldenPathPHLDB2 - 3q13.2 [CytoView hg19]  PHLDB2 - 3q13.2 [CytoView hg38]
ImmunoBaseENSG00000144824
Mapping of homologs : NCBIPHLDB2 [Mapview hg19]  PHLDB2 [Mapview hg38]
OMIM610298   
Gene and transcription
Genbank (Entrez)AB209903 AF506820 AJ496194 AK025444 AK027862
RefSeq transcript (Entrez)NM_001134437 NM_001134438 NM_001134439 NM_145753
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PHLDB2
Cluster EST : UnigeneHs.679140 [ NCBI ]
CGAP (NCI)Hs.679140
Alternative Splicing GalleryENSG00000144824
Gene ExpressionPHLDB2 [ NCBI-GEO ]   PHLDB2 [ EBI - ARRAY_EXPRESS ]   PHLDB2 [ SEEK ]   PHLDB2 [ MEM ]
Gene Expression Viewer (FireBrowse)PHLDB2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)90102
GTEX Portal (Tissue expression)PHLDB2
Human Protein AtlasENSG00000144824-PHLDB2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86SQ0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86SQ0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86SQ0
Splice isoforms : SwissVarQ86SQ0
PhosPhoSitePlusQ86SQ0
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)   
Domains : Interpro (EBI)PH-like_dom_sf    PH_domain    PHLDB1/2/3_PH   
Domain families : Pfam (Sanger)PH (PF00169)   
Domain families : Pfam (NCBI)pfam00169   
Domain families : Smart (EMBL)PH (SM00233)  
Conserved Domain (NCBI)PHLDB2
DMDM Disease mutations90102
Blocks (Seattle)PHLDB2
SuperfamilyQ86SQ0
Human Protein Atlas [tissue]ENSG00000144824-PHLDB2 [tissue]
Peptide AtlasQ86SQ0
HPRD06611
IPIIPI00410259   IPI00168459   IPI00657763   IPI00789057   IPI00946096   IPI00333825   IPI00847736   
Protein Interaction databases
DIP (DOE-UCLA)Q86SQ0
IntAct (EBI)Q86SQ0
FunCoupENSG00000144824
BioGRIDPHLDB2
STRING (EMBL)PHLDB2
ZODIACPHLDB2
Ontologies - Pathways
QuickGOQ86SQ0
Ontology : AmiGOmicrotubule cytoskeleton organization  protein binding  cytosol  plasma membrane  focal adhesion  regulation of gastrulation  regulation of epithelial to mesenchymal transition  cell leading edge  intermediate filament cytoskeleton  basal cortex  basal cortex  establishment of protein localization  cadherin binding  negative regulation of stress fiber assembly  negative regulation of focal adhesion assembly  regulation of microtubule cytoskeleton organization  regulation of microtubule cytoskeleton organization  negative regulation of wound healing, spreading of epidermal cells  positive regulation of basement membrane assembly involved in embryonic body morphogenesis  positive regulation of basement membrane assembly involved in embryonic body morphogenesis  
Ontology : EGO-EBImicrotubule cytoskeleton organization  protein binding  cytosol  plasma membrane  focal adhesion  regulation of gastrulation  regulation of epithelial to mesenchymal transition  cell leading edge  intermediate filament cytoskeleton  basal cortex  basal cortex  establishment of protein localization  cadherin binding  negative regulation of stress fiber assembly  negative regulation of focal adhesion assembly  regulation of microtubule cytoskeleton organization  regulation of microtubule cytoskeleton organization  negative regulation of wound healing, spreading of epidermal cells  positive regulation of basement membrane assembly involved in embryonic body morphogenesis  positive regulation of basement membrane assembly involved in embryonic body morphogenesis  
NDEx NetworkPHLDB2
Atlas of Cancer Signalling NetworkPHLDB2
Wikipedia pathwaysPHLDB2
Orthology - Evolution
OrthoDB90102
GeneTree (enSembl)ENSG00000144824
Phylogenetic Trees/Animal Genes : TreeFamPHLDB2
HOGENOMQ86SQ0
Homologs : HomoloGenePHLDB2
Homology/Alignments : Family Browser (UCSC)PHLDB2
Gene fusions - Rearrangements
Fusion : MitelmanPHLDB2/CD96 [3q13.2/3q13.13]  
Fusion : MitelmanPHLDB2/KCNAB1 [3q13.2/3q25.31]  [t(3;3)(q13;q25)]  
Fusion : MitelmanPHLDB2/RIMS2 [3q13.2/8q22.3]  [t(3;8)(q13;q22)]  
Fusion PortalPHLDB2 3q13.2 CD96 3q13.13 HNSC
Fusion PortalPHLDB2 3q13.2 KCNAB1 3q25.31 BLCA
Fusion PortalPHLDB2 3q13.2 RIMS2 8q22.3 LUSC
Fusion : QuiverPHLDB2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPHLDB2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PHLDB2
dbVarPHLDB2
ClinVarPHLDB2
1000_GenomesPHLDB2 
Exome Variant ServerPHLDB2
ExAC (Exome Aggregation Consortium)ENSG00000144824
GNOMAD BrowserENSG00000144824
Varsome BrowserPHLDB2
Genetic variants : HAPMAP90102
Genomic Variants (DGV)PHLDB2 [DGVbeta]
DECIPHERPHLDB2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPHLDB2 
Mutations
ICGC Data PortalPHLDB2 
TCGA Data PortalPHLDB2 
Broad Tumor PortalPHLDB2
OASIS PortalPHLDB2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPHLDB2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPHLDB2
Mutations and Diseases : HGMDPHLDB2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PHLDB2
DgiDB (Drug Gene Interaction Database)PHLDB2
DoCM (Curated mutations)PHLDB2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PHLDB2 (select a term)
intoGenPHLDB2
Cancer3DPHLDB2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610298   
Orphanet
DisGeNETPHLDB2
MedgenPHLDB2
Genetic Testing Registry PHLDB2
NextProtQ86SQ0 [Medical]
TSGene90102
GENETestsPHLDB2
Target ValidationPHLDB2
Huge Navigator PHLDB2 [HugePedia]
snp3D : Map Gene to Disease90102
BioCentury BCIQPHLDB2
ClinGenPHLDB2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD90102
Chemical/Pharm GKB GenePA134884060
Clinical trialPHLDB2
Miscellaneous
canSAR (ICR)PHLDB2 (select the gene name)
DataMed IndexPHLDB2
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePHLDB2
EVEXPHLDB2
GoPubMedPHLDB2
iHOPPHLDB2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 18:00:43 CET 2019
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