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PDLIM5 (PDZ and LIM domain 5)

Identity

Alias_symbol (synonym)LIM
Enh
Other aliasENH
ENH1
L9
HGNC (Hugo) PDLIM5
LocusID (NCBI) 10611
Atlas_Id 41157
Location 4q22.3  [Link to chromosome band 4q22]
Location_base_pair Starts at 94451857 and ends at 94668227 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)
ARNT2 (15q25.1) / PDLIM5 (4q22.3)BSDC1 (1p35.1) / PDLIM5 (4q22.3)CAMK1D (10p13) / PDLIM5 (4q22.3)
ERBB3 (12q13.2) / PDLIM5 (4q22.3)PDLIM5 (4q22.3) / FAM126A (7p15.3)PDLIM5 (4q22.3) / HIRA (22q11.21)
PDLIM5 (4q22.3) / IFIH1 (2q24.2)PDLIM5 (4q22.3) / MIR548F1 (1q31.1)PDLIM5 (4q22.3) / PDLIM5 (4q22.3)
PDLIM5 (4q22.3) / SMARCAD1 (4q22.3)PDLIM5 (4q22.3) / TARDBP (1p36.22)PDLIM5 (4q22.3) / UBQLN1 (9q21.32)
PDLIM5 (4q22.3) / ZRANB1 (10q26.13)SORBS2 (4q35.1) / PDLIM5 (4q22.3)ARNT2 15q25.1 / PDLIM5 4q22.3

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

 


External links

Nomenclature
HGNC (Hugo)PDLIM5   17468
Cards
Entrez_Gene (NCBI)PDLIM5  10611  PDZ and LIM domain 5
AliasesENH; ENH1; L9; LIM
GeneCards (Weizmann)PDLIM5
Ensembl hg19 (Hinxton)ENSG00000163110 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000163110 [Gene_View]  chr4:94451857-94668227 [Contig_View]  PDLIM5 [Vega]
ICGC DataPortalENSG00000163110
TCGA cBioPortalPDLIM5
AceView (NCBI)PDLIM5
Genatlas (Paris)PDLIM5
WikiGenes10611
SOURCE (Princeton)PDLIM5
Genetics Home Reference (NIH)PDLIM5
Genomic and cartography
GoldenPath hg38 (UCSC)PDLIM5  -     chr4:94451857-94668227 +  4q22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PDLIM5  -     4q22.3   [Description]    (hg19-Feb_2009)
EnsemblPDLIM5 - 4q22.3 [CytoView hg19]  PDLIM5 - 4q22.3 [CytoView hg38]
Mapping of homologs : NCBIPDLIM5 [Mapview hg19]  PDLIM5 [Mapview hg38]
OMIM605904   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_001011513 NM_001011515 NM_001011516 NM_001256425 NM_001256426 NM_001256427 NM_001256428 NM_001256429 NM_006457
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PDLIM5
Cluster EST : UnigeneHs.732677 [ NCBI ]
CGAP (NCI)Hs.732677
Alternative Splicing GalleryENSG00000163110
Gene ExpressionPDLIM5 [ NCBI-GEO ]   PDLIM5 [ EBI - ARRAY_EXPRESS ]   PDLIM5 [ SEEK ]   PDLIM5 [ MEM ]
Gene Expression Viewer (FireBrowse)PDLIM5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10611
GTEX Portal (Tissue expression)PDLIM5
Human Protein AtlasENSG00000163110-PDLIM5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96HC4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96HC4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96HC4
Splice isoforms : SwissVarQ96HC4
PhosPhoSitePlusQ96HC4
Domaine pattern : Prosite (Expaxy)LIM_DOMAIN_1 (PS00478)    LIM_DOMAIN_2 (PS50023)    PDZ (PS50106)   
Domains : Interpro (EBI)DUF4749    PDZ    Znf_LIM   
Domain families : Pfam (Sanger)DUF4749 (PF15936)    LIM (PF00412)    PDZ (PF00595)   
Domain families : Pfam (NCBI)pfam15936    pfam00412    pfam00595   
Domain families : Smart (EMBL)LIM (SM00132)  PDZ (SM00228)  
Conserved Domain (NCBI)PDLIM5
DMDM Disease mutations10611
Blocks (Seattle)PDLIM5
PDB (SRS)2DAR    2UZC   
PDB (PDBSum)2DAR    2UZC   
PDB (IMB)2DAR    2UZC   
PDB (RSDB)2DAR    2UZC   
Structural Biology KnowledgeBase2DAR    2UZC   
SCOP (Structural Classification of Proteins)2DAR    2UZC   
CATH (Classification of proteins structures)2DAR    2UZC   
SuperfamilyQ96HC4
Human Protein Atlas [tissue]ENSG00000163110-PDLIM5 [tissue]
Peptide AtlasQ96HC4
HPRD05799
IPIIPI00007935   IPI00964290   IPI00103146   IPI00553102   IPI00942043   IPI01013659   IPI00973432   IPI00555593   IPI00966891   IPI00966655   IPI00555564   IPI00966347   IPI00966603   IPI00965261   IPI00981155   
Protein Interaction databases
DIP (DOE-UCLA)Q96HC4
IntAct (EBI)Q96HC4
FunCoupENSG00000163110
BioGRIDPDLIM5
STRING (EMBL)PDLIM5
ZODIACPDLIM5
Ontologies - Pathways
QuickGOQ96HC4
Ontology : AmiGOactin binding  protein kinase C binding  protein binding  cytosol  cell-cell adherens junction  zinc ion binding  postsynaptic density  actin cytoskeleton  membrane  actinin binding  neuron projection  postsynaptic membrane  protein N-terminus binding  regulation of synapse assembly  regulation of dendritic spine morphogenesis  cell growth involved in cardiac muscle cell development  cell-cell adhesion  cadherin binding involved in cell-cell adhesion  
Ontology : EGO-EBIactin binding  protein kinase C binding  protein binding  cytosol  cell-cell adherens junction  zinc ion binding  postsynaptic density  actin cytoskeleton  membrane  actinin binding  neuron projection  postsynaptic membrane  protein N-terminus binding  regulation of synapse assembly  regulation of dendritic spine morphogenesis  cell growth involved in cardiac muscle cell development  cell-cell adhesion  cadherin binding involved in cell-cell adhesion  
NDEx NetworkPDLIM5
Atlas of Cancer Signalling NetworkPDLIM5
Wikipedia pathwaysPDLIM5
Orthology - Evolution
OrthoDB10611
GeneTree (enSembl)ENSG00000163110
Phylogenetic Trees/Animal Genes : TreeFamPDLIM5
HOVERGENQ96HC4
HOGENOMQ96HC4
Homologs : HomoloGenePDLIM5
Homology/Alignments : Family Browser (UCSC)PDLIM5
Gene fusions - Rearrangements
Fusion : MitelmanARNT2/PDLIM5 [15q25.1/4q22.3]  [t(4;15)(q22;q25)]  
Fusion: TCGAARNT2 15q25.1 PDLIM5 4q22.3 BRCA
Fusion: Tumor Portal PDLIM5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPDLIM5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PDLIM5
dbVarPDLIM5
ClinVarPDLIM5
1000_GenomesPDLIM5 
Exome Variant ServerPDLIM5
ExAC (Exome Aggregation Consortium)ENSG00000163110
GNOMAD BrowserENSG00000163110
Genetic variants : HAPMAP10611
Genomic Variants (DGV)PDLIM5 [DGVbeta]
DECIPHERPDLIM5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPDLIM5 
Mutations
ICGC Data PortalPDLIM5 
TCGA Data PortalPDLIM5 
Broad Tumor PortalPDLIM5
OASIS PortalPDLIM5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPDLIM5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPDLIM5
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 PDLIM5
DgiDB (Drug Gene Interaction Database)PDLIM5
DoCM (Curated mutations)PDLIM5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PDLIM5 (select a term)
intoGenPDLIM5
Cancer3DPDLIM5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605904   
Orphanet
MedgenPDLIM5
Genetic Testing Registry PDLIM5
NextProtQ96HC4 [Medical]
TSGene10611
GENETestsPDLIM5
Target ValidationPDLIM5
Huge Navigator PDLIM5 [HugePedia]
snp3D : Map Gene to Disease10611
BioCentury BCIQPDLIM5
ClinGenPDLIM5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10611
Chemical/Pharm GKB GenePA134917248
Clinical trialPDLIM5
Miscellaneous
canSAR (ICR)PDLIM5 (select the gene name)
Probes
Litterature
PubMed62 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePDLIM5
EVEXPDLIM5
GoPubMedPDLIM5
iHOPPDLIM5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Nov 9 13:04:39 CET 2017

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