Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PRRT2 (proline rich transmembrane protein 2)

Identity

Alias (NCBI)BFIC2
BFIS2
DSPB3
DYT10
EKD1
FICCA
ICCA
IFITMD1
PKC
HGNC (Hugo) PRRT2
HGNC Alias symbFLJ25513
DKFZp547J199
IFITMD1
FICCA
DSPB3
PKC
EKD1
HGNC Alias nameinterferon induced transmembrane protein domain containing 1
 dispanin subfamily B member 3
HGNC Previous nameICCA
 DYT10
HGNC Previous nameinfantile convulsions and paroxysmal choreoathetosis
 dystonia 10
 proline-rich transmembrane protein 2
LocusID (NCBI) 112476
Atlas_Id 57014
Location 16p11.2  [Link to chromosome band 16p11]
Location_base_pair Starts at 29812193 and ends at 29815881 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)

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    proline rich transmembrane protein 2
AliasesBFIC2; BFIS2; DSPB3; DYT10; 
EKD1; FICCA; ICCA; IFITMD1; PKC
GeneCards (Weizmann)PRRT2
Ensembl hg19 (Hinxton)ENSG00000167371 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000167371 [Gene_View]  ENSG00000167371 [Sequence]  chr16:29812193-29815881 [Contig_View]  PRRT2 [Vega]
ICGC DataPortalENSG00000167371
TCGA cBioPortalPRRT2
AceView (NCBI)PRRT2
Genatlas (Paris)PRRT2
SOURCE (Princeton)PRRT2
Genetics Home Reference (NIH)PRRT2
Genomic and cartography
GoldenPath hg38 (UCSC)PRRT2  -     chr16:29812193-29815881 +  16p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PRRT2  -     16p11.2   [Description]    (hg19-Feb_2009)
GoldenPathPRRT2 - 16p11.2 [CytoView hg19]  PRRT2 - 16p11.2 [CytoView hg38]
ImmunoBaseENSG00000167371
Genome Data Viewer NCBIPRRT2 [Mapview hg19]  
OMIM128200   602066   605751   614386   
Gene and transcription
Genbank (Entrez)AK074572 AK092265 AK098379 AK225785 AK292393
RefSeq transcript (Entrez)NM_001256442 NM_001256443 NM_145239
Consensus coding sequences : CCDS (NCBI)PRRT2
Gene ExpressionPRRT2 [ NCBI-GEO ]   PRRT2 [ EBI - ARRAY_EXPRESS ]   PRRT2 [ SEEK ]   PRRT2 [ MEM ]
Gene Expression Viewer (FireBrowse)PRRT2 [ Firebrowse - Broad ]
GenevisibleExpression of PRRT2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)112476
GTEX Portal (Tissue expression)PRRT2
Human Protein AtlasENSG00000167371-PRRT2 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ7Z6L0
Domains : Interpro (EBI)CD225/Dispanin_fam   
Domain families : Pfam (Sanger)CD225 (PF04505)   
Domain families : Pfam (NCBI)pfam04505   
Conserved Domain (NCBI)PRRT2
SuperfamilyQ7Z6L0
AlphaFold pdb e-kbQ7Z6L0   
Human Protein Atlas [tissue]ENSG00000167371-PRRT2 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q7Z6L0
IntAct (EBI)Q7Z6L0
BioGRIDPRRT2
STRING (EMBL)PRRT2
ZODIACPRRT2
Ontologies - Pathways
QuickGOQ7Z6L0
Ontology : AmiGOprotein binding  plasma membrane  synaptic vesicle  membrane  syntaxin-1 binding  SH3 domain binding  synaptic vesicle membrane  synaptic vesicle fusion to presynaptic active zone membrane  vesicle  negative regulation of SNARE complex assembly  presynaptic membrane  dendritic spine  axon terminus  neuromuscular process controlling posture  presynapse  postsynaptic density membrane  glutamatergic synapse  integral component of presynaptic membrane  calcium-dependent activation of synaptic vesicle fusion  negative regulation of short-term synaptic potentiation  
Ontology : EGO-EBIprotein binding  plasma membrane  synaptic vesicle  membrane  syntaxin-1 binding  SH3 domain binding  synaptic vesicle membrane  synaptic vesicle fusion to presynaptic active zone membrane  vesicle  negative regulation of SNARE complex assembly  presynaptic membrane  dendritic spine  axon terminus  neuromuscular process controlling posture  presynapse  postsynaptic density membrane  glutamatergic synapse  integral component of presynaptic membrane  calcium-dependent activation of synaptic vesicle fusion  negative regulation of short-term synaptic potentiation  
NDEx NetworkPRRT2
Atlas of Cancer Signalling NetworkPRRT2
Wikipedia pathwaysPRRT2
Orthology - Evolution
OrthoDB112476
GeneTree (enSembl)ENSG00000167371
Phylogenetic Trees/Animal Genes : TreeFamPRRT2
Homologs : HomoloGenePRRT2
Homology/Alignments : Family Browser (UCSC)PRRT2
Gene fusions - Rearrangements
Fusion : QuiverPRRT2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPRRT2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PRRT2
dbVarPRRT2
ClinVarPRRT2
MonarchPRRT2
1000_GenomesPRRT2 
Exome Variant ServerPRRT2
GNOMAD BrowserENSG00000167371
Varsome BrowserPRRT2
ACMGPRRT2 variants
VarityQ7Z6L0
Genomic Variants (DGV)PRRT2 [DGVbeta]
DECIPHERPRRT2 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DPRRT2
Mutations and Diseases : HGMDPRRT2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPRRT2
DgiDB (Drug Gene Interaction Database)PRRT2
DoCM (Curated mutations)PRRT2
CIViC (Clinical Interpretations of Variants in Cancer)PRRT2
Cancer3DPRRT2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM128200    602066    605751    614386   
Orphanet
DisGeNETPRRT2
MedgenPRRT2
Genetic Testing Registry PRRT2
NextProtQ7Z6L0 [Medical]
GENETestsPRRT2
Target ValidationPRRT2
Huge Navigator PRRT2 [HugePedia]
ClinGenPRRT2
Clinical trials, drugs, therapy
MyCancerGenomePRRT2
Protein Interactions : CTDPRRT2
Pharm GKB GenePA142671132
PharosQ7Z6L0
Clinical trialPRRT2
Miscellaneous
canSAR (ICR)PRRT2
HarmonizomePRRT2
DataMed IndexPRRT2
Probes
Litterature
PubMed120 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPRRT2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:27:04 CEST 2021

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