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PHLDA3 (pleckstrin homology like domain family A member 3)

Identity

Alias_namesfamily A
member 2
Alias_symbol (synonym)TIH1
Other alias
HGNC (Hugo) PHLDA3
LocusID (NCBI) 23612
Atlas_Id 50708
Location 1q32.1  [Link to chromosome band 1q32]
Location_base_pair Starts at 201464284 and ends at 201469171 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PHLDA3 (1q32.1) / MYBPH (1q32.1)PHLDA3 (1q32.1) / PFKM (12q13.11)PHLDA3 1q32.1 / MYBPH 1q32.1

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

 


External links

Nomenclature
HGNC (Hugo)PHLDA3   8934
Cards
Entrez_Gene (NCBI)PHLDA3  23612  pleckstrin homology like domain family A member 3
AliasesTIH1
GeneCards (Weizmann)PHLDA3
Ensembl hg19 (Hinxton)ENSG00000174307 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000174307 [Gene_View]  chr1:201464284-201469171 [Contig_View]  PHLDA3 [Vega]
ICGC DataPortalENSG00000174307
TCGA cBioPortalPHLDA3
AceView (NCBI)PHLDA3
Genatlas (Paris)PHLDA3
WikiGenes23612
SOURCE (Princeton)PHLDA3
Genetics Home Reference (NIH)PHLDA3
Genomic and cartography
GoldenPath hg38 (UCSC)PHLDA3  -     chr1:201464284-201469171 -  1q32.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PHLDA3  -     1q32.1   [Description]    (hg19-Feb_2009)
EnsemblPHLDA3 - 1q32.1 [CytoView hg19]  PHLDA3 - 1q32.1 [CytoView hg38]
Mapping of homologs : NCBIPHLDA3 [Mapview hg19]  PHLDA3 [Mapview hg38]
OMIM607054   
Gene and transcription
Genbank (Entrez)AF151100 AI083980 AI188803 AI624156 AI678238
RefSeq transcript (Entrez)NM_012396
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PHLDA3
Cluster EST : UnigeneHs.268557 [ NCBI ]
CGAP (NCI)Hs.268557
Alternative Splicing GalleryENSG00000174307
Gene ExpressionPHLDA3 [ NCBI-GEO ]   PHLDA3 [ EBI - ARRAY_EXPRESS ]   PHLDA3 [ SEEK ]   PHLDA3 [ MEM ]
Gene Expression Viewer (FireBrowse)PHLDA3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23612
GTEX Portal (Tissue expression)PHLDA3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y5J5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y5J5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y5J5
Splice isoforms : SwissVarQ9Y5J5
PhosPhoSitePlusQ9Y5J5
Domains : Interpro (EBI)PH_dom-like    PH_domain   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)PH (SM00233)  
Conserved Domain (NCBI)PHLDA3
DMDM Disease mutations23612
Blocks (Seattle)PHLDA3
SuperfamilyQ9Y5J5
Human Protein AtlasENSG00000174307
Peptide AtlasQ9Y5J5
HPRD09519
IPIIPI00329599   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y5J5
IntAct (EBI)Q9Y5J5
FunCoupENSG00000174307
BioGRIDPHLDA3
STRING (EMBL)PHLDA3
ZODIACPHLDA3
Ontologies - Pathways
QuickGOQ9Y5J5
Ontology : AmiGOphosphatidylinositol-4,5-bisphosphate binding  phosphatidylinositol-3,4,5-trisphosphate binding  cytoplasm  plasma membrane  anatomical structure morphogenesis  phosphatidylinositol-5-phosphate binding  phosphatidylinositol-3-phosphate binding  intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator  positive regulation of apoptotic process  phosphatidylinositol-3,4-bisphosphate binding  negative regulation of protein kinase B signaling  extracellular exosome  phosphatidylinositol-3,5-bisphosphate binding  
Ontology : EGO-EBIphosphatidylinositol-4,5-bisphosphate binding  phosphatidylinositol-3,4,5-trisphosphate binding  cytoplasm  plasma membrane  anatomical structure morphogenesis  phosphatidylinositol-5-phosphate binding  phosphatidylinositol-3-phosphate binding  intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator  positive regulation of apoptotic process  phosphatidylinositol-3,4-bisphosphate binding  negative regulation of protein kinase B signaling  extracellular exosome  phosphatidylinositol-3,5-bisphosphate binding  
NDEx NetworkPHLDA3
Atlas of Cancer Signalling NetworkPHLDA3
Wikipedia pathwaysPHLDA3
Orthology - Evolution
OrthoDB23612
GeneTree (enSembl)ENSG00000174307
Phylogenetic Trees/Animal Genes : TreeFamPHLDA3
HOVERGENQ9Y5J5
HOGENOMQ9Y5J5
Homologs : HomoloGenePHLDA3
Homology/Alignments : Family Browser (UCSC)PHLDA3
Gene fusions - Rearrangements
Fusion : MitelmanPHLDA3/MYBPH [1q32.1/1q32.1]  
Fusion: TCGAPHLDA3 1q32.1 MYBPH 1q32.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPHLDA3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PHLDA3
dbVarPHLDA3
ClinVarPHLDA3
1000_GenomesPHLDA3 
Exome Variant ServerPHLDA3
ExAC (Exome Aggregation Consortium)PHLDA3 (select the gene name)
Genetic variants : HAPMAP23612
Genomic Variants (DGV)PHLDA3 [DGVbeta]
DECIPHERPHLDA3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPHLDA3 
Mutations
ICGC Data PortalPHLDA3 
TCGA Data PortalPHLDA3 
Broad Tumor PortalPHLDA3
OASIS PortalPHLDA3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPHLDA3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPHLDA3
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 PHLDA3
DgiDB (Drug Gene Interaction Database)PHLDA3
DoCM (Curated mutations)PHLDA3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PHLDA3 (select a term)
intoGenPHLDA3
Cancer3DPHLDA3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607054   
Orphanet
MedgenPHLDA3
Genetic Testing Registry PHLDA3
NextProtQ9Y5J5 [Medical]
TSGene23612
GENETestsPHLDA3
Target ValidationPHLDA3
Huge Navigator PHLDA3 [HugePedia]
snp3D : Map Gene to Disease23612
BioCentury BCIQPHLDA3
ClinGenPHLDA3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23612
Chemical/Pharm GKB GenePA33275
Clinical trialPHLDA3
Miscellaneous
canSAR (ICR)PHLDA3 (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePHLDA3
EVEXPHLDA3
GoPubMedPHLDA3
iHOPPHLDA3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:49:21 CEST 2017

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