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PACSIN2 (protein kinase C and casein kinase substrate in neurons 2)

Identity

Alias_symbol (synonym)SDPII
Other alias
HGNC (Hugo) PACSIN2
LocusID (NCBI) 11252
Atlas_Id 56519
Location 22q13.2  [Link to chromosome band 22q13]
Location_base_pair Starts at 43265772 and ends at 43411184 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ADAM12 (10q26.2) / PACSIN2 (22q13.2)CELSR1 (22q13.31) / PACSIN2 (22q13.2)PACSIN2 (22q13.2) / ARFGAP3 (22q13.2)
PACSIN2 (22q13.2) / CEACAM5 (19q13.2)PACSIN2 (22q13.2) / EPHB1 (3q22.2)PACSIN2 (22q13.2) / HRH1 (3p25.3)
PACSIN2 (22q13.2) / MIR100HG (11q24.1)PACSIN2 (22q13.2) / NUPL2 (7p15.3)PACSIN2 (22q13.2) / PACSIN2 (22q13.2)
PACSIN2 (22q13.2) / TTLL1 (22q13.2)PACSIN2 (22q13.2) / ZNF823 (19p13.2)TP73 (1p36.32) / PACSIN2 (22q13.2)
USP32 (17q23.1) / PACSIN2 (22q13.2)

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)PACSIN2   8571
Cards
Entrez_Gene (NCBI)PACSIN2  11252  protein kinase C and casein kinase substrate in neurons 2
AliasesSDPII
GeneCards (Weizmann)PACSIN2
Ensembl hg19 (Hinxton)ENSG00000100266 [Gene_View]  chr22:43265772-43411184 [Contig_View]  PACSIN2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000100266 [Gene_View]  chr22:43265772-43411184 [Contig_View]  PACSIN2 [Vega]
ICGC DataPortalENSG00000100266
TCGA cBioPortalPACSIN2
AceView (NCBI)PACSIN2
Genatlas (Paris)PACSIN2
WikiGenes11252
SOURCE (Princeton)PACSIN2
Genetics Home Reference (NIH)PACSIN2
Genomic and cartography
GoldenPath hg19 (UCSC)PACSIN2  -     chr22:43265772-43411184 -  22q13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PACSIN2  -     22q13.2   [Description]    (hg38-Dec_2013)
EnsemblPACSIN2 - 22q13.2 [CytoView hg19]  PACSIN2 - 22q13.2 [CytoView hg38]
Mapping of homologs : NCBIPACSIN2 [Mapview hg19]  PACSIN2 [Mapview hg38]
OMIM604960   
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_001184970 NM_001184971 NM_007229
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PACSIN2
Cluster EST : UnigeneHs.162877 [ NCBI ]
CGAP (NCI)Hs.162877
Alternative Splicing GalleryENSG00000100266
Gene ExpressionPACSIN2 [ NCBI-GEO ]   PACSIN2 [ EBI - ARRAY_EXPRESS ]   PACSIN2 [ SEEK ]   PACSIN2 [ MEM ]
Gene Expression Viewer (FireBrowse)PACSIN2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11252
GTEX Portal (Tissue expression)PACSIN2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UNF0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UNF0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UNF0
Splice isoforms : SwissVarQ9UNF0
PhosPhoSitePlusQ9UNF0
Domaine pattern : Prosite (Expaxy)F_BAR (PS51741)    SH3 (PS50002)   
Domains : Interpro (EBI)F_BAR    FCH_dom    PACSIN2    SH3_domain   
Domain families : Pfam (Sanger)FCH (PF00611)    SH3_1 (PF00018)   
Domain families : Pfam (NCBI)pfam00611    pfam00018   
Domain families : Smart (EMBL)FCH (SM00055)  SH3 (SM00326)  
Conserved Domain (NCBI)PACSIN2
DMDM Disease mutations11252
Blocks (Seattle)PACSIN2
PDB (SRS)3ABH    3ACO    3HAJ    3Q0K   
PDB (PDBSum)3ABH    3ACO    3HAJ    3Q0K   
PDB (IMB)3ABH    3ACO    3HAJ    3Q0K   
PDB (RSDB)3ABH    3ACO    3HAJ    3Q0K   
Structural Biology KnowledgeBase3ABH    3ACO    3HAJ    3Q0K   
SCOP (Structural Classification of Proteins)3ABH    3ACO    3HAJ    3Q0K   
CATH (Classification of proteins structures)3ABH    3ACO    3HAJ    3Q0K   
SuperfamilyQ9UNF0
Human Protein AtlasENSG00000100266
Peptide AtlasQ9UNF0
HPRD05390
IPIIPI00027009   IPI00221111   IPI00877624   IPI00879955   IPI00878118   IPI00878519   IPI00964728   
Protein Interaction databases
DIP (DOE-UCLA)Q9UNF0
IntAct (EBI)Q9UNF0
FunCoupENSG00000100266
BioGRIDPACSIN2
STRING (EMBL)PACSIN2
ZODIACPACSIN2
Ontologies - Pathways
QuickGOQ9UNF0
Ontology : AmiGOtransporter activity  protein binding  nucleoplasm  cytoplasm  early endosome  cytosol  cytoskeleton  caveola  cell-cell adherens junction  focal adhesion  cytoskeletal protein binding  lipid binding  extrinsic component of membrane  actin cytoskeleton organization  regulation of endocytosis  cytoplasmic vesicle membrane  ruffle membrane  protein localization to endosome  identical protein binding  intracellular membrane-bounded organelle  negative regulation of endocytosis  cell projection morphogenesis  recycling endosome membrane  extracellular exosome  phosphatidic acid binding  caveola assembly  caveolin-mediated endocytosis  membrane tubulation  membrane tubulation  cell-cell adhesion  cadherin binding involved in cell-cell adhesion  
Ontology : EGO-EBItransporter activity  protein binding  nucleoplasm  cytoplasm  early endosome  cytosol  cytoskeleton  caveola  cell-cell adherens junction  focal adhesion  cytoskeletal protein binding  lipid binding  extrinsic component of membrane  actin cytoskeleton organization  regulation of endocytosis  cytoplasmic vesicle membrane  ruffle membrane  protein localization to endosome  identical protein binding  intracellular membrane-bounded organelle  negative regulation of endocytosis  cell projection morphogenesis  recycling endosome membrane  extracellular exosome  phosphatidic acid binding  caveola assembly  caveolin-mediated endocytosis  membrane tubulation  membrane tubulation  cell-cell adhesion  cadherin binding involved in cell-cell adhesion  
NDEx NetworkPACSIN2
Atlas of Cancer Signalling NetworkPACSIN2
Wikipedia pathwaysPACSIN2
Orthology - Evolution
OrthoDB11252
GeneTree (enSembl)ENSG00000100266
Phylogenetic Trees/Animal Genes : TreeFamPACSIN2
HOVERGENQ9UNF0
HOGENOMQ9UNF0
Homologs : HomoloGenePACSIN2
Homology/Alignments : Family Browser (UCSC)PACSIN2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPACSIN2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PACSIN2
dbVarPACSIN2
ClinVarPACSIN2
1000_GenomesPACSIN2 
Exome Variant ServerPACSIN2
ExAC (Exome Aggregation Consortium)PACSIN2 (select the gene name)
Genetic variants : HAPMAP11252
Genomic Variants (DGV)PACSIN2 [DGVbeta]
DECIPHER (Syndromes)22:43265772-43411184  ENSG00000100266
CONAN: Copy Number AnalysisPACSIN2 
Mutations
ICGC Data PortalPACSIN2 
TCGA Data PortalPACSIN2 
Broad Tumor PortalPACSIN2
OASIS PortalPACSIN2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPACSIN2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPACSIN2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PACSIN2
DgiDB (Drug Gene Interaction Database)PACSIN2
DoCM (Curated mutations)PACSIN2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PACSIN2 (select a term)
intoGenPACSIN2
Cancer3DPACSIN2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604960   
Orphanet
MedgenPACSIN2
Genetic Testing Registry PACSIN2
NextProtQ9UNF0 [Medical]
TSGene11252
GENETestsPACSIN2
Huge Navigator PACSIN2 [HugePedia]
snp3D : Map Gene to Disease11252
BioCentury BCIQPACSIN2
ClinGenPACSIN2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11252
Chemical/Pharm GKB GenePA32897
Clinical trialPACSIN2
Miscellaneous
canSAR (ICR)PACSIN2 (select the gene name)
Probes
Litterature
PubMed49 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePACSIN2
EVEXPACSIN2
GoPubMedPACSIN2
iHOPPACSIN2
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 13:20:13 CET 2017

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