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PACSIN2 Gene

protein-coding   GIFtS: 54

GC22M041590
protein kinase C and casein kinase substrate in neurons 2
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
OTTHUMP00000028650 2
SDPII 1, 2
Descriptions
pacsin 2 2
protein kinase C and casein kinase substrate in neurons 2 2
syndapin II 2
External Ids
HGNC: 85711
Entrez Gene: 112522
UniProtKB: Q9UNF03
Ensembl: ENSG000001002667
Search outside databases for aliases for PACSIN2 gene

Previous GC identifers: GC22M039868 GC22M041496

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: PACN2_HUMAN, Q9UNF0
Function: May play a role in vesicle formation and transport

Gene Wiki entry for PACSIN2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the PACSIN2 gene  

Entrez Gene cytogenetic band: 22q13.2-q13.33   Ensembl cytogenetic band:  22q13.2   HGNC cytogenetic band: 22q13.2-q13.33

PACSIN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M041590:     (about GC identifiers)

Start:
41,595,721 bp from pter
End:
41,741,095 bp from pter
Size:
145,375 bases
Orientation:
minus strand
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: PACN2_HUMAN, Q9UNF0 (See protein sequence)
Recommended Name: Protein kinase C and casein kinase substrate in neurons protein 2  
Size: 486 amino acids; 55739 Da
Subunit: Homo- and hetero-aggregates with other PACSINs. Binds dynamin 1, synaptojanin, synapsin 1
and the neural Wiskott-Aldrich syndrome protein (N-WASP) (By similarity)
Subcellular location: Cytoplasmic vesicle (By similarity). Note=Vesicle-like cytoplasmic
distribution (By similarity)
Secondary accessions: O95921 Q96HV9 Q9H0D3 Q9NPN1 Q9Y4V2
Alternative splicing: 2 isoforms:  Q9UNF0-1   Q9UNF0-2   

Post-translational modifications:

  • Phosphorylated by casein kinase 2 (CK2) and protein kinase C (PKC) (By similarity)1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_009160.2  

    ENSEMBL proteins: 
    ENSP00000385372 ENSP00000385040 ENSP00000385952 ENSP00000338379 ENSP00000263246 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (PACSIN2)
    Human Recombinant Proteins from Abnova (PACSIN2)
                  OriGene Purified Recombinant Human Protein: PACSIN2 

    3 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737 cytoplasm TAS10431838
    GO:0005829 cytosol IEA--
    GO:0031410 cytoplasmic vesicle IEA--
    About this table

    Antibodies for PACSIN2: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (PACSIN2), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (PACSIN2)
    Novus Biologicals Antibodies for PACSIN2

    Assays for PACSIN2: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    2 InterPro domains/families:
     IPR001060 FCH
     IPR001452 SH3_domain


       GeneDecks  PACSIN2 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q9UNF0

    ProtoNet protein and cluster: Q9UNF0

    2 Blocks protein families:
    IPB001060 Cdc15/Fes/CIP4
    IPB001452 SH3 domain signature


    UniProtKB/Swiss-Prot: PACN2_HUMAN, Q9UNF0
    Similarity: Belongs to the PACSIN family
    Similarity: Contains 1 FCH domain
    Similarity: Contains 1 SH3 domain

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (PACSIN2)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (PACSIN2)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_007229

                  Applied Biosystems Silencer® siRNAs for PACSIN2

                  Sigma-Aldrich siRNA for PACSIN2  
                         Sigma-Aldrich shRNA for PACSIN2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for PACSIN2
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_007229
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_007229
                                     untagged cDNA clone in CMV expression vector: NM_007229 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_007229

    UniProtKB/Swiss-Prot: PACN2_HUMAN, Q9UNF0
    Function: May play a role in vesicle formation and transport

    Genatlas biochemistry entry for PACSIN2:
    protein kinase C and casein kinase substrate in neurons 2

    2 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215 transporter activity TAS10431838
    GO:0008092 cytoskeletal protein binding IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


     Gene Network CentralTM Interacting Genes and Proteins Network for  PACSIN2 


    5/9 Interacting proteins for PACSIN2 (Q9UNF02 ENSP000002632463) via UniProtKB, MINT, and/or STRING (see all 9 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PACSIN2Q9UNF02MINT-66496
    DNM1ENSP000003620143STRING (score=.98)
    WASLENSP000002230233STRING (score=.961)
    FASLGENSP000003566943STRING (score=.929)
    PACSIN1ENSP000002444583STRING (score=.869)
    About this table

    2 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030036 actin cytoskeleton organization TAS10431838
    GO:0045806 negative regulation of endocytosis IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for PACSIN2

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (PACSIN2)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (PACSIN2)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_007229

                  Sigma-Aldrich siRNA for PACSIN2  
                         Sigma-Aldrich shRNA for PACSIN2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_007229  

    REFSEQ mRNAs for PACSIN2 gene: 

    NM_007229.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_007229  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_007229
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_007229
                                     untagged cDNA clone in CMV expression vector: NM_007229 

    24/512 AceView cDNA sequences (see all 512 ):

    AI554275 BQ921162 BM758341 BM749809 BM748478 AW959836 BM757730 BM758991 
    AU279714 BM784825 AI049750 BM747236 BQ921618 BP346018 BM758980 BG338085 
    AA402698 AW337798 Z44878 BM090836 CB409673 AI095801 AI754874 CB146436 

    highest scoring ESTs for PACSIN2:

    AA814516 AF128536 BE560201 BE903213 BF203478 BF689783 BG036861 BG389589 BG419281 BG423017 


    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for PACSIN2 (see all 10 )

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b ^ 14a · 14b · 14c ^ 15a · 15b
    SP1:                                      -                                                     -                       -                       -               
    SP2:                                                                                            -                       -     -                 -               
    SP3:              -     -     -     -     -     -     -                                         -                                                               
    SP4:                                -     -                                                                                                                     
    SP5:                    -     -     -     -                                                                                                                     

    About this scheme

    ECgene alternative splicing isoforms for PACSIN2

    5 Ensembl transcripts including schematic representations:
    ENST00000403744  ENST00000402229  ENST00000407585  ENST00000337959  ENST00000263246  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    PACSIN2 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for PACSIN2

    1 / 2 / 3

    5 probe-sets matching PACSIN2 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    35886_at2, 3 U95-A 1 1.00 1.00 0.98 0.61 AL049758 0.20 1.00 0.72 1

    57086_at2, 3 U95-B 1 1.00 1.00 0.93 1.40 AA814516 0.80 0.88 0.84 1

    201651_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_007229 0.60 0.83 0.73 1

    201651_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    1554691_a_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  PACSIN2 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TGTAGTATTT

    Expression variation in blood from EXPOLDB for PACSIN2

    UniProtKB/Swiss-Prot: PACN2_HUMAN, Q9UNF0
    Tissue specificity: Ubiquitously expressed

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for PACSIN2 gene from 5/11 species (see all 11 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    chimpanzee
    (Pan troglodytes)
    PACSIN21   -- protein kinase C and casein kinase substrate in neurons more 99.38(n)
    99.18(a)
    470231  XM_001171391.1  XP_001171391.1 
    cow
    (Bos taurus)
    PACSIN21   -- protein kinase C and casein kinase substrate in neurons more 88.96(n)
    90.12(a)
    540107  NM_001046468.1  NP_001039933.1 
    rat
    (Rattus norvegicus)
    Pacsin21   -- protein kinase C and casein kinase substrate in neurons more 89.03(n)
    93.62(a)
    124461  NM_130740.2  NP_570096.2 
    mouse
    (Mus musculus)
    Pacsin21, 5 155
    protein kinase C and casein kinase substrate in neurons more1, 5 89.03(n)1
    93.83(a)1
    239701  NM_011862.21  NP_035992.11 
     AF1285355  AI1974335  (see all 32)
    chicken
    (Gallus gallus)
    PACSIN21   -- protein kinase C and casein kinase substrate in neurons more 77.23(n)
    89.44(a)
    395975  NM_205089.1  NP_990420.1 
    About this table        Species with no ortholog for PACSIN2

    ENSEMBL Gene Tree for PACSIN2
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for PACSIN2 gene
    PACSIN32  PACSIN12  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/563 NCBI SNPs in PACSIN2 are shown (see all 563 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 348)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 22 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs15695111,2
    A,C,F,H41674625(+) AACCAT/CGAGAG 1 -- ng319Minor allele frequency- C:0.40NS EU EA WA 522
    rs22674791,2
    A,C,F,O41673429(+) GAGGCG/AGCCGT 1 -- ng314Minor allele frequency- A:0.26EA NA 1588
    rs85691,2
    A,C,F,H41596718(-) TTGAGG/AAAAGG 1 -- ng51 ese3 trp312Minor allele frequency- A:0.27MN NA EA WA 1168
    rs20072951,2
    A,C,F,H41673169(+) ACAGGC/GGGCAG 1 -- ng318Minor allele frequency- G:0.49EU EA WA 836
    rs57590531,2
    A,C,F41673552(+) GAACAC/TGCTAG 1 -- ng313Minor allele frequency- T:0.20NA 140
    rs104832141,2
    C,F,H41674874(+) GGGAAC/TTCAAT 1 -- ng3112Minor allele frequency- T:0.06NS EU EA WA NA 668
    rs353830041,2
    C,F41614678(+) TGCTGT/CTGGCT 1 S/N mis15Minor allele frequency- C:0.02NA EU EA WA 498
    --
    rs96201041,2
    A41673432(+) GCAGCA/CGTTTC 1 -- ng310--------
    rs38031081,2
    H41597151(+) TCCCAG/CGCGAA 1 -- ut314Minor allele frequency- C:0.00EU EA WA 420
    rs45945501,2
    H41673977(+) TACGGG/AGACAC 1 -- ng314Minor allele frequency- A:0.00EU EA WA 408
    About this table

    HapMap Linkage Disequilibrium images for PACSIN2 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 604960

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/18 PubMed articles for PACSIN2 gene (see all 18 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 11252 HGNC: 8571 AceView: PACSIN2andARFGAP3 Ensembl:ENSG00000100266 euGenes: HUgn11252
    ECgene: PACSIN2 H-InvDB: PACSIN2
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for PACSIN2:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
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     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
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     Predesigned and custom siRNAs for PACSIN2 Browse antibodies at Sigma-Aldrich
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for PACSIN2 Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Recombinant Proteins
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     Tagged/untagged cDNA clones
     Validated SYBR primer pairs
     Purified proteins from HEK293T cells
     Western blot validated antibodies
     shRNA in GFP-retroviral vector
     Search Tocris compounds for PACSIN2




     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Antibodies for PACSIN2

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