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PNN (pinin, desmosome associated protein)

Identity

Alias_symbol (synonym)memA
Other aliasDRS
DRSP
SDK3
HGNC (Hugo) PNN
LocusID (NCBI) 5411
Atlas_Id 41767
Location 14q21.1  [Link to chromosome band 14q21]
Location_base_pair Starts at 39175183 and ends at 39183218 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
MYO9B (19p13.11) / PNN (14q21.1)PHLDB2 (3q13.2) / PNN (14q21.1)PNN (14q21.1) / GEMIN2 (14q21.1)
PNN (14q21.1) / PNN (14q21.1)PNN (14q21.1) / SLTM (15q22.1)VPS72 (1q21.3) / PNN (14q21.1)
MYO9B 19p13.11 / PNN 14q21.1

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)PNN   9162
Cards
Entrez_Gene (NCBI)PNN  5411  pinin, desmosome associated protein
AliasesDRS; DRSP; SDK3; memA
GeneCards (Weizmann)PNN
Ensembl hg19 (Hinxton)ENSG00000100941 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100941 [Gene_View]  chr14:39175183-39183218 [Contig_View]  PNN [Vega]
ICGC DataPortalENSG00000100941
TCGA cBioPortalPNN
AceView (NCBI)PNN
Genatlas (Paris)PNN
WikiGenes5411
SOURCE (Princeton)PNN
Genetics Home Reference (NIH)PNN
Genomic and cartography
GoldenPath hg38 (UCSC)PNN  -     chr14:39175183-39183218 +  14q21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PNN  -     14q21.1   [Description]    (hg19-Feb_2009)
EnsemblPNN - 14q21.1 [CytoView hg19]  PNN - 14q21.1 [CytoView hg38]
Mapping of homologs : NCBIPNN [Mapview hg19]  PNN [Mapview hg38]
OMIM603154   
Gene and transcription
Genbank (Entrez)AK223612 AK292579 AK300164 AK303136 AK304622
RefSeq transcript (Entrez)NM_002687
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PNN
Cluster EST : UnigeneHs.409965 [ NCBI ]
CGAP (NCI)Hs.409965
Alternative Splicing GalleryENSG00000100941
Gene ExpressionPNN [ NCBI-GEO ]   PNN [ EBI - ARRAY_EXPRESS ]   PNN [ SEEK ]   PNN [ MEM ]
Gene Expression Viewer (FireBrowse)PNN [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5411
GTEX Portal (Tissue expression)PNN
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H307   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H307  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H307
Splice isoforms : SwissVarQ9H307
PhosPhoSitePlusQ9H307
Domains : Interpro (EBI)Pinin_SDK_MemA    Pinin_SDK_N   
Domain families : Pfam (Sanger)Pinin_SDK_memA (PF04696)    Pinin_SDK_N (PF04697)   
Domain families : Pfam (NCBI)pfam04696    pfam04697   
Domain structure : Prodom (Prabi Lyon)Pinin_SDK_N (PD011048)   
Conserved Domain (NCBI)PNN
DMDM Disease mutations5411
Blocks (Seattle)PNN
SuperfamilyQ9H307
Human Protein AtlasENSG00000100941
Peptide AtlasQ9H307
HPRD04401
IPIIPI00789041   IPI00002649   IPI01025111   IPI01024966   IPI00982448   
Protein Interaction databases
DIP (DOE-UCLA)Q9H307
IntAct (EBI)Q9H307
FunCoupENSG00000100941
BioGRIDPNN
STRING (EMBL)PNN
ZODIACPNN
Ontologies - Pathways
QuickGOQ9H307
Ontology : AmiGOmRNA splicing, via spliceosome  DNA binding  RNA binding  structural molecule activity  intermediate filament  plasma membrane  cell-cell junction  transcription, DNA-templated  regulation of transcription, DNA-templated  cell adhesion  membrane  nuclear speck  desmosome  exon-exon junction complex  catalytic step 2 spliceosome  
Ontology : EGO-EBImRNA splicing, via spliceosome  DNA binding  RNA binding  structural molecule activity  intermediate filament  plasma membrane  cell-cell junction  transcription, DNA-templated  regulation of transcription, DNA-templated  cell adhesion  membrane  nuclear speck  desmosome  exon-exon junction complex  catalytic step 2 spliceosome  
Pathways : KEGGRNA transport    mRNA surveillance pathway   
NDEx NetworkPNN
Atlas of Cancer Signalling NetworkPNN
Wikipedia pathwaysPNN
Orthology - Evolution
OrthoDB5411
GeneTree (enSembl)ENSG00000100941
Phylogenetic Trees/Animal Genes : TreeFamPNN
HOVERGENQ9H307
HOGENOMQ9H307
Homologs : HomoloGenePNN
Homology/Alignments : Family Browser (UCSC)PNN
Gene fusions - Rearrangements
Fusion : MitelmanMYO9B/PNN [19p13.11/14q21.1]  [t(14;19)(q21;p13)]  
Fusion: TCGAMYO9B 19p13.11 PNN 14q21.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPNN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PNN
dbVarPNN
ClinVarPNN
1000_GenomesPNN 
Exome Variant ServerPNN
ExAC (Exome Aggregation Consortium)PNN (select the gene name)
Genetic variants : HAPMAP5411
Genomic Variants (DGV)PNN [DGVbeta]
DECIPHERPNN [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPNN 
Mutations
ICGC Data PortalPNN 
TCGA Data PortalPNN 
Broad Tumor PortalPNN
OASIS PortalPNN [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPNN  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPNN
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 PNN
DgiDB (Drug Gene Interaction Database)PNN
DoCM (Curated mutations)PNN (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PNN (select a term)
intoGenPNN
Cancer3DPNN(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603154   
Orphanet
MedgenPNN
Genetic Testing Registry PNN
NextProtQ9H307 [Medical]
TSGene5411
GENETestsPNN
Target ValidationPNN
Huge Navigator PNN [HugePedia]
snp3D : Map Gene to Disease5411
BioCentury BCIQPNN
ClinGenPNN
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5411
Chemical/Pharm GKB GenePA33484
Clinical trialPNN
Miscellaneous
canSAR (ICR)PNN (select the gene name)
Probes
Litterature
PubMed73 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePNN
EVEXPNN
GoPubMedPNN
iHOPPNN
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:11:04 CEST 2017

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