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

Identity

Alias (NCBI)SDPII
HGNC (Hugo) PACSIN2
HGNC Alias symbSDPII
HGNC Alias namesyndapin II
LocusID (NCBI) 11252
Atlas_Id 56519
Location 22q13.2  [Link to chromosome band 22q13]
Location_base_pair Starts at 42869766 and ends at 42947041 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)
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    protein kinase C and casein kinase substrate in neurons 2
AliasesSDPII
GeneCards (Weizmann)PACSIN2
Ensembl hg19 (Hinxton)ENSG00000100266 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100266 [Gene_View]  ENSG00000100266 [Sequence]  chr22:42869766-42947041 [Contig_View]  PACSIN2 [Vega]
ICGC DataPortalENSG00000100266
TCGA cBioPortalPACSIN2
AceView (NCBI)PACSIN2
Genatlas (Paris)PACSIN2
SOURCE (Princeton)PACSIN2
Genetics Home Reference (NIH)PACSIN2
Genomic and cartography
GoldenPath hg38 (UCSC)PACSIN2  -     chr22:42869766-42947041 -  22q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PACSIN2  -     22q13.2   [Description]    (hg19-Feb_2009)
GoldenPathPACSIN2 - 22q13.2 [CytoView hg19]  PACSIN2 - 22q13.2 [CytoView hg38]
ImmunoBaseENSG00000100266
Genome Data Viewer NCBIPACSIN2 [Mapview hg19]  
OMIM604960   
Gene and transcription
Genbank (Entrez)AF128536 AL136845 AL389984 AY007086 BC008037
RefSeq transcript (Entrez)NM_001184970 NM_001184971 NM_001349968 NM_001349969 NM_001349970 NM_001349971 NM_001349972 NM_001349973 NM_001349974 NM_007229
Consensus coding sequences : CCDS (NCBI)PACSIN2
Gene ExpressionPACSIN2 [ NCBI-GEO ]   PACSIN2 [ EBI - ARRAY_EXPRESS ]   PACSIN2 [ SEEK ]   PACSIN2 [ MEM ]
Gene Expression Viewer (FireBrowse)PACSIN2 [ Firebrowse - Broad ]
GenevisibleExpression of PACSIN2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11252
GTEX Portal (Tissue expression)PACSIN2
Human Protein AtlasENSG00000100266-PACSIN2 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ9UNF0
Domaine pattern : Prosite (Expaxy)F_BAR (PS51741)    SH3 (PS50002)   
Domains : Interpro (EBI)AH/BAR_dom_sf    F_BAR    FCH_dom    PACSIN1/PACSIN2_SH3    PACSIN2    PACSIN2_F-BAR    SH3-like_dom_sf    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
PDB (RSDB)3ABH    3ACO    3HAJ    3Q0K   
PDB Europe3ABH    3ACO    3HAJ    3Q0K   
PDB (PDBSum)3ABH    3ACO    3HAJ    3Q0K   
PDB (IMB)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
AlphaFold pdb e-kbQ9UNF0   
Human Protein Atlas [tissue]ENSG00000100266-PACSIN2 [tissue]
HPRD05390
Protein Interaction databases
DIP (DOE-UCLA)Q9UNF0
IntAct (EBI)Q9UNF0
BioGRIDPACSIN2
STRING (EMBL)PACSIN2
ZODIACPACSIN2
Ontologies - Pathways
QuickGOQ9UNF0
Ontology : AmiGOtransporter activity  protein binding  phospholipid binding  cytoplasm  endosome  early endosome  cytosol  cytosol  cytoskeleton  plasma membrane  plasma membrane  caveola  cell-cell junction  focal adhesion  cytoskeleton organization  cytoskeletal protein binding  nuclear speck  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  cadherin binding  negative regulation of endocytosis  cell projection morphogenesis  modulation of chemical synaptic transmission  recycling endosome membrane  membrane organization  extracellular exosome  phosphatidic acid binding  caveola assembly  caveolin-mediated endocytosis  plasma membrane tubulation  plasma membrane tubulation  plasma membrane tubulation  glutamatergic synapse  
Ontology : EGO-EBItransporter activity  protein binding  phospholipid binding  cytoplasm  endosome  early endosome  cytosol  cytosol  cytoskeleton  plasma membrane  plasma membrane  caveola  cell-cell junction  focal adhesion  cytoskeleton organization  cytoskeletal protein binding  nuclear speck  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  cadherin binding  negative regulation of endocytosis  cell projection morphogenesis  modulation of chemical synaptic transmission  recycling endosome membrane  membrane organization  extracellular exosome  phosphatidic acid binding  caveola assembly  caveolin-mediated endocytosis  plasma membrane tubulation  plasma membrane tubulation  plasma membrane tubulation  glutamatergic synapse  
NDEx NetworkPACSIN2
Atlas of Cancer Signalling NetworkPACSIN2
Wikipedia pathwaysPACSIN2
Orthology - Evolution
OrthoDB11252
GeneTree (enSembl)ENSG00000100266
Phylogenetic Trees/Animal Genes : TreeFamPACSIN2
Homologs : HomoloGenePACSIN2
Homology/Alignments : Family Browser (UCSC)PACSIN2
Gene fusions - Rearrangements
Fusion : QuiverPACSIN2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPACSIN2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PACSIN2
dbVarPACSIN2
ClinVarPACSIN2
MonarchPACSIN2
1000_GenomesPACSIN2 
Exome Variant ServerPACSIN2
GNOMAD BrowserENSG00000100266
Varsome BrowserPACSIN2
ACMGPACSIN2 variants
VarityQ9UNF0
Genomic Variants (DGV)PACSIN2 [DGVbeta]
DECIPHERPACSIN2 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DPACSIN2
Mutations and Diseases : HGMDPACSIN2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPACSIN2
DgiDB (Drug Gene Interaction Database)PACSIN2
DoCM (Curated mutations)PACSIN2
CIViC (Clinical Interpretations of Variants in Cancer)PACSIN2
Cancer3DPACSIN2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604960   
Orphanet
DisGeNETPACSIN2
MedgenPACSIN2
Genetic Testing Registry PACSIN2
NextProtQ9UNF0 [Medical]
GENETestsPACSIN2
Target ValidationPACSIN2
Huge Navigator PACSIN2 [HugePedia]
ClinGenPACSIN2
Clinical trials, drugs, therapy
MyCancerGenomePACSIN2
Protein Interactions : CTDPACSIN2
Pharm GKB GenePA32897
PharosQ9UNF0
Clinical trialPACSIN2
Miscellaneous
canSAR (ICR)PACSIN2
HarmonizomePACSIN2
DataMed IndexPACSIN2
Probes
Litterature
PubMed74 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPACSIN2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 15:24:09 CEST 2021

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