Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PRRT2 (proline-rich transmembrane protein 2)

Identity

Alias_namesICCA
DYT10
infantile convulsions and paroxysmal choreoathetosis
dystonia 10
proline-rich transmembrane protein 2
Alias_symbol (synonym)FLJ25513
DKFZp547J199
IFITMD1
FICCA
DSPB3
PKC
EKD1
Other aliasBFIC2
BFIS2
HGNC (Hugo) PRRT2
LocusID (NCBI) 112476
Atlas_Id 72297
Location 16p11.2  [Link to chromosome band 16p11]
Location_base_pair Starts at 29823409 and ends at 29827202 bp from pter ( according to hg19-Feb_2009)

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)PRRT2   30500
Cards
Entrez_Gene (NCBI)PRRT2  112476  proline-rich transmembrane protein 2
AliasesBFIC2; BFIS2; DSPB3; DYT10; 
EKD1; FICCA; ICCA; IFITMD1; PKC
GeneCards (Weizmann)PRRT2
Ensembl hg19 (Hinxton)ENSG00000167371 [Gene_View]  chr16:29823409-29827202 [Contig_View]  PRRT2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000167371 [Gene_View]  chr16:29823409-29827202 [Contig_View]  PRRT2 [Vega]
ICGC DataPortalENSG00000167371
TCGA cBioPortalPRRT2
AceView (NCBI)PRRT2
Genatlas (Paris)PRRT2
WikiGenes112476
SOURCE (Princeton)PRRT2
Genetics Home Reference (NIH)PRRT2
Genomic and cartography
GoldenPath hg19 (UCSC)PRRT2  -     chr16:29823409-29827202 +  16p11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PRRT2  -     16p11.2   [Description]    (hg38-Dec_2013)
EnsemblPRRT2 - 16p11.2 [CytoView hg19]  PRRT2 - 16p11.2 [CytoView hg38]
Mapping of homologs : NCBIPRRT2 [Mapview hg19]  PRRT2 [Mapview hg38]
OMIM128200   602066   614386   
Gene and transcription
Genbank (Entrez)AK074572 AK092265 AK098379 AK225785 AK292393
RefSeq transcript (Entrez)NM_001256442 NM_001256443 NM_145239
RefSeq genomic (Entrez)NC_000016 NC_018927 NG_032039 NT_187260 NW_004929400
Consensus coding sequences : CCDS (NCBI)PRRT2
Cluster EST : UnigeneHs.655071 [ NCBI ]
CGAP (NCI)Hs.655071
Alternative Splicing GalleryENSG00000167371
Gene ExpressionPRRT2 [ NCBI-GEO ]   PRRT2 [ EBI - ARRAY_EXPRESS ]   PRRT2 [ SEEK ]   PRRT2 [ MEM ]
Gene Expression Viewer (FireBrowse)PRRT2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)112476
GTEX Portal (Tissue expression)PRRT2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7Z6L0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7Z6L0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7Z6L0
Splice isoforms : SwissVarQ7Z6L0
PhosPhoSitePlusQ7Z6L0
Domains : Interpro (EBI)CD225/Dispanin_fam   
Domain families : Pfam (Sanger)Dispanin (PF04505)   
Domain families : Pfam (NCBI)pfam04505   
Conserved Domain (NCBI)PRRT2
DMDM Disease mutations112476
Blocks (Seattle)PRRT2
SuperfamilyQ7Z6L0
Human Protein AtlasENSG00000167371
Peptide AtlasQ7Z6L0
HPRD13995
IPIIPI00718906   IPI00328520   IPI00642382   
Protein Interaction databases
DIP (DOE-UCLA)Q7Z6L0
IntAct (EBI)Q7Z6L0
FunCoupENSG00000167371
BioGRIDPRRT2
STRING (EMBL)PRRT2
ZODIACPRRT2
Ontologies - Pathways
QuickGOQ7Z6L0
Ontology : AmiGOplasma membrane  response to biotic stimulus  integral component of membrane  cell junction  synapse  neuromuscular process controlling posture  
Ontology : EGO-EBIplasma membrane  response to biotic stimulus  integral component of membrane  cell junction  synapse  neuromuscular process controlling posture  
NDEx NetworkPRRT2
Atlas of Cancer Signalling NetworkPRRT2
Wikipedia pathwaysPRRT2
Orthology - Evolution
OrthoDB112476
GeneTree (enSembl)ENSG00000167371
Phylogenetic Trees/Animal Genes : TreeFamPRRT2
HOVERGENQ7Z6L0
HOGENOMQ7Z6L0
Homologs : HomoloGenePRRT2
Homology/Alignments : Family Browser (UCSC)PRRT2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPRRT2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PRRT2
dbVarPRRT2
ClinVarPRRT2
1000_GenomesPRRT2 
Exome Variant ServerPRRT2
ExAC (Exome Aggregation Consortium)PRRT2 (select the gene name)
Genetic variants : HAPMAP112476
Genomic Variants (DGV)PRRT2 [DGVbeta]
DECIPHER (Syndromes)16:29823409-29827202  ENSG00000167371
CONAN: Copy Number AnalysisPRRT2 
Mutations
ICGC Data PortalPRRT2 
TCGA Data PortalPRRT2 
Broad Tumor PortalPRRT2
OASIS PortalPRRT2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPRRT2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPRRT2
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
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch PRRT2
DgiDB (Drug Gene Interaction Database)PRRT2
DoCM (Curated mutations)PRRT2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PRRT2 (select a term)
intoGenPRRT2
Cancer3DPRRT2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM128200    602066    614386   
Orphanet1031    3651    9793    13828    13827    13826   
MedgenPRRT2
Genetic Testing Registry PRRT2
NextProtQ7Z6L0 [Medical]
TSGene112476
GENETestsPRRT2
Huge Navigator PRRT2 [HugePedia]
snp3D : Map Gene to Disease112476
BioCentury BCIQPRRT2
ClinGenPRRT2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD112476
Chemical/Pharm GKB GenePA142671132
Clinical trialPRRT2
Miscellaneous
canSAR (ICR)PRRT2 (select the gene name)
Probes
Litterature
PubMed97 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePRRT2
EVEXPRRT2
GoPubMedPRRT2
iHOPPRRT2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:39:56 CET 2017

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