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PDLIM7 (PDZ and LIM domain 7)

Identity

Alias_namesPDZ and LIM domain 7 (enigma)
Alias_symbol (synonym)ENIGMA
Other aliasLMP1
LMP3
HGNC (Hugo) PDLIM7
LocusID (NCBI) 9260
Atlas_Id 43666
Location 5q35.3  [Link to chromosome band 5q35]
Location_base_pair Starts at 176910395 and ends at 176924606 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
KCNAB2 (1p36.31) / PDLIM7 (5q35.3)LMAN2 (5q35.3) / PDLIM7 (5q35.3)OLFML2A (9q33.3) / PDLIM7 (5q35.3)
PDLIM7 (5q35.3) / PDLIM7 (5q35.3)PDLIM7 (5q35.3) / PRRX1 (1q24.2)PDLIM7 (5q35.3) / UPF1 (19p13.11)
PSENEN (19q13.12) / PDLIM7 (5q35.3)

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)PDLIM7   22958
Cards
Entrez_Gene (NCBI)PDLIM7  9260  PDZ and LIM domain 7
AliasesLMP1; LMP3
GeneCards (Weizmann)PDLIM7
Ensembl hg19 (Hinxton)ENSG00000196923 [Gene_View]  chr5:176910395-176924606 [Contig_View]  PDLIM7 [Vega]
Ensembl hg38 (Hinxton)ENSG00000196923 [Gene_View]  chr5:176910395-176924606 [Contig_View]  PDLIM7 [Vega]
ICGC DataPortalENSG00000196923
TCGA cBioPortalPDLIM7
AceView (NCBI)PDLIM7
Genatlas (Paris)PDLIM7
WikiGenes9260
SOURCE (Princeton)PDLIM7
Genetics Home Reference (NIH)PDLIM7
Genomic and cartography
GoldenPath hg19 (UCSC)PDLIM7  -     chr5:176910395-176924606 -  5q35.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PDLIM7  -     5q35.3   [Description]    (hg38-Dec_2013)
EnsemblPDLIM7 - 5q35.3 [CytoView hg19]  PDLIM7 - 5q35.3 [CytoView hg38]
Mapping of homologs : NCBIPDLIM7 [Mapview hg19]  PDLIM7 [Mapview hg38]
OMIM605903   
Gene and transcription
Genbank (Entrez)AF265209 AF345904 AF345905 AF345906 AK096826
RefSeq transcript (Entrez)NM_005451 NM_203352 NM_203353 NM_213636
RefSeq genomic (Entrez)NC_000005 NC_018916 NT_023133 NW_004929325
Consensus coding sequences : CCDS (NCBI)PDLIM7
Cluster EST : UnigeneHs.736984 [ NCBI ]
CGAP (NCI)Hs.736984
Alternative Splicing GalleryENSG00000196923
Gene ExpressionPDLIM7 [ NCBI-GEO ]   PDLIM7 [ EBI - ARRAY_EXPRESS ]   PDLIM7 [ SEEK ]   PDLIM7 [ MEM ]
Gene Expression Viewer (FireBrowse)PDLIM7 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9260
GTEX Portal (Tissue expression)PDLIM7
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NR12   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NR12  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NR12
Splice isoforms : SwissVarQ9NR12
PhosPhoSitePlusQ9NR12
Domaine pattern : Prosite (Expaxy)LIM_DOMAIN_1 (PS00478)    LIM_DOMAIN_2 (PS50023)    PDZ (PS50106)   
Domains : Interpro (EBI)PDZ    Znf_LIM   
Domain families : Pfam (Sanger)LIM (PF00412)    PDZ (PF00595)   
Domain families : Pfam (NCBI)pfam00412    pfam00595   
Domain families : Smart (EMBL)LIM (SM00132)  PDZ (SM00228)  
Conserved Domain (NCBI)PDLIM7
DMDM Disease mutations9260
Blocks (Seattle)PDLIM7
PDB (SRS)2Q3G   
PDB (PDBSum)2Q3G   
PDB (IMB)2Q3G   
PDB (RSDB)2Q3G   
Structural Biology KnowledgeBase2Q3G   
SCOP (Structural Classification of Proteins)2Q3G   
CATH (Classification of proteins structures)2Q3G   
SuperfamilyQ9NR12
Human Protein AtlasENSG00000196923
Peptide AtlasQ9NR12
HPRD10436
IPIIPI00023122   IPI00023560   IPI00030835   IPI00478185   IPI00655883   IPI00060308   IPI00969021   IPI00969225   IPI00967222   IPI00964872   IPI00966164   
Protein Interaction databases
DIP (DOE-UCLA)Q9NR12
IntAct (EBI)Q9NR12
FunCoupENSG00000196923
BioGRIDPDLIM7
STRING (EMBL)PDLIM7
ZODIACPDLIM7
Ontologies - Pathways
QuickGOQ9NR12
Ontology : AmiGOossification  stress fiber  ruffle  protein binding  nucleus  cytoplasm  focal adhesion  receptor-mediated endocytosis  multicellular organism development  zinc ion binding  actin cytoskeleton  actin cytoskeleton organization  cell differentiation  positive regulation of osteoblast differentiation  
Ontology : EGO-EBIossification  stress fiber  ruffle  protein binding  nucleus  cytoplasm  focal adhesion  receptor-mediated endocytosis  multicellular organism development  zinc ion binding  actin cytoskeleton  actin cytoskeleton organization  cell differentiation  positive regulation of osteoblast differentiation  
NDEx NetworkPDLIM7
Atlas of Cancer Signalling NetworkPDLIM7
Wikipedia pathwaysPDLIM7
Orthology - Evolution
OrthoDB9260
GeneTree (enSembl)ENSG00000196923
Phylogenetic Trees/Animal Genes : TreeFamPDLIM7
HOVERGENQ9NR12
HOGENOMQ9NR12
Homologs : HomoloGenePDLIM7
Homology/Alignments : Family Browser (UCSC)PDLIM7
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPDLIM7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PDLIM7
dbVarPDLIM7
ClinVarPDLIM7
1000_GenomesPDLIM7 
Exome Variant ServerPDLIM7
ExAC (Exome Aggregation Consortium)PDLIM7 (select the gene name)
Genetic variants : HAPMAP9260
Genomic Variants (DGV)PDLIM7 [DGVbeta]
DECIPHER (Syndromes)5:176910395-176924606  ENSG00000196923
CONAN: Copy Number AnalysisPDLIM7 
Mutations
ICGC Data PortalPDLIM7 
TCGA Data PortalPDLIM7 
Broad Tumor PortalPDLIM7
OASIS PortalPDLIM7 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPDLIM7  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPDLIM7
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 PDLIM7
DgiDB (Drug Gene Interaction Database)PDLIM7
DoCM (Curated mutations)PDLIM7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PDLIM7 (select a term)
intoGenPDLIM7
Cancer3DPDLIM7(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605903   
Orphanet
MedgenPDLIM7
Genetic Testing Registry PDLIM7
NextProtQ9NR12 [Medical]
TSGene9260
GENETestsPDLIM7
Huge Navigator PDLIM7 [HugePedia]
snp3D : Map Gene to Disease9260
BioCentury BCIQPDLIM7
ClinGenPDLIM7
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9260
Chemical/Pharm GKB GenePA128394546
Clinical trialPDLIM7
Miscellaneous
canSAR (ICR)PDLIM7 (select the gene name)
Probes
Litterature
PubMed68 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePDLIM7
EVEXPDLIM7
GoPubMedPDLIM7
iHOPPDLIM7
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:13:57 CEST 2017

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