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PACSIN2 Gene

protein-coding   GIFtS: 60
GCID: GC22M043243

Protein Kinase C And Casein Kinase Substrate In Neurons...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Protein Kinase C And Casein Kinase Substrate In Neurons 21 2     syndapin-22
Syndapin II1 2     syndapin-II2
SDPII2     syndapin22
Cytoplasmic Phosphoprotein PACSIN22     Syndapin-23
Protein Kinase C And Casein Kinase Substrate In Neurons Protein 22     Syndapin-II3
Syndapin 22     

External Ids:    HGNC: 85711   Entrez Gene: 112522   Ensembl: ENSG000001002667   OMIM: 6049605   UniProtKB: Q9UNF03   

Export aliases for PACSIN2 gene to outside databases

Previous GC identifers: GC22M039868 GC22M041496 GC22M041590 GC22M026224


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PACSIN2 Gene:
This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein
is involved in linking the actin cytoskeleton with vesicle formation by regulating tubulin polymerization.
Alternative splicing results in multiple transcript variants. (provided by RefSeq, May 2010)

GeneCards Summary for PACSIN2 Gene:
PACSIN2 (protein kinase C and casein kinase substrate in neurons 2) is a protein-coding gene. Diseases associated with PACSIN2 include neuronitis, and wiskott-aldrich syndrome. GO annotations related to this gene include lipid binding and identical protein binding. An important paralog of this gene is PACSIN3.

UniProtKB/Swiss-Prot: PACN2_HUMAN, Q9UNF0
Function: Lipid-binding protein that is able to promote the tubulation of the phosphatidic acid-containing
membranes it preferentially binds. Plays a role in intracellular vesicle-mediated transport. Involved in the
endocytosis of cell-surface receptors like the EGF receptor, contributing to its internalization in the absence
of EGF stimulus. May also play a role in the formation of caveolae at the cell membrane. Recruits DNM2 to
caveolae, and thereby plays a role in caveola-mediated endocytosis

Gene Wiki entry for PACSIN2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000022.11  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PACSIN2 gene promoter:
         STAT5B   STAT1   STAT4   STAT1beta   STAT6   STAT5A   STAT1alpha   STAT2   STAT3   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPACSIN2 promoter sequence
   Search Chromatin IP Primers for PACSIN2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PACSIN2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

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)
PACSIN2 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M043243:  view genomic region     (about GC identifiers)

Start:
43,231,418 bp from pter      End:
43,411,184 bp from pter
Size:
179,767 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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: Homodimer. May form heterooligomers with other PACSINs. Interacts (via NPF motifs) with EHD1 (via EH
domain). Interacts with EHD3. Interacts (via the SH3 domain) with MICALL1. Interacts with RAC1. Interacts (via
SH3 domain) with DNM1, SYN1, SYNJ1 and WASL. Interacts with CAV1. Interacts with TRPV4
4 PDB 3D structures from and Proteopedia for PACSIN2:
3ABH (3D)        3ACO (3D)        3HAJ (3D)        3Q0K (3D)    
Secondary accessions: O95921 Q96HV9 Q9H0D3 Q9NPN1 Q9Y4V2
Alternative splicing: 2 isoforms:  Q9UNF0-1   Q9UNF0-2   

Explore the universe of human proteins at neXtProt for PACSIN2: NX_Q9UNF0

Explore proteomics data for PACSIN2 at MOPED

Post-translational modifications: 

  • Phosphorylated by casein kinase 2 (CK2) and protein kinase C (PKC) (By similarity)1
  • Ubiquitination2 at Lys264
  • Modification sites at PhosphoSitePlus

  • See PACSIN2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001171899.1  NP_001171900.1  NP_009160.2  

    ENSEMBL proteins: 
     ENSP00000422788   ENSP00000263246   ENSP00000385952   ENSP00000385372   ENSP00000385040  
     ENSP00000398573   ENSP00000396816   ENSP00000403435   ENSP00000406767   ENSP00000399953  
     ENSP00000338379  

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    PACSIN2 Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR001060 FCH_dom
     IPR001452 SH3_domain
     IPR028521 PACSIN2

    Graphical View of Domain Structure for InterPro Entry Q9UNF0

    ProtoNet protein and cluster: Q9UNF0

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


    UniProtKB/Swiss-Prot: PACN2_HUMAN, Q9UNF0
    Domain: The F-BAR domain forms a coiled coil and mediates membrane-binding and membrane tubulation. In the
    autoinhibited conformation, interaction with the SH3 domain inhibits membrane tubulation mediated by the F-BAR
    domain
    Similarity: Belongs to the PACSIN family
    Similarity: Contains 1 FCH domain
    Similarity: Contains 1 SH3 domain


    PACSIN2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PACN2_HUMAN, Q9UNF0
    Function: Lipid-binding protein that is able to promote the tubulation of the phosphatidic acid-containing
    membranes it preferentially binds. Plays a role in intracellular vesicle-mediated transport. Involved in the
    endocytosis of cell-surface receptors like the EGF receptor, contributing to its internalization in the absence
    of EGF stimulus. May also play a role in the formation of caveolae at the cell membrane. Recruits DNM2 to
    caveolae, and thereby plays a role in caveola-mediated endocytosis

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

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity TAS10431838
    GO:0005515protein binding IPI16318909
    GO:0008092cytoskeletal protein binding IEA--
    GO:0008289lipid binding ----
    GO:0042802identical protein binding IPI16189514
         
    PACSIN2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PACSIN2:
     Decreased viability of wild-ty  Increased cell number in G2M,  

    Animal Models:
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    miRNA
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    miRTarBase miRNAs that target PACSIN2:
    hsa-mir-155-5p (MIRT020597), hsa-mir-193b-3p (MIRT041342)

    Block miRNA regulation of human, mouse, rat PACSIN2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PACSIN2 (see all 13):
    hsa-miR-498 hsa-miR-3671 hsa-miR-875-3p hsa-miR-548d-3p hsa-miR-411 hsa-miR-4255 hsa-miR-4267 hsa-miR-146a*
    SwitchGear 3'UTR luciferase reporter plasmidPACSIN2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PACSIN2

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    Sino Biological Human cDNA Clone for PACSIN2
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PACN2_HUMAN, Q9UNF0: Cytoplasm (By similarity). Cytoplasm, cytoskeleton (By similarity). Cytoplasmic vesicle
    membrane; Peripheral membrane protein; Cytoplasmic side. Early endosome. Recycling endosome membrane. Cell
    projection, ruffle membrane; Peripheral membrane protein; Cytoplasmic side. Cell membrane; Peripheral membrane
    protein; Cytoplasmic side. Cell projection (By similarity). Membrane, caveola. Note=Detected at the neck of
    flask-shaped caveolae. Localization to tubular recycling endosomes probably requires interaction with MICALL1 and
    EHD1
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    plasma membrane5
    cytosol3
    cytoskeleton2
    nucleus2

    Gene Ontology (GO): Selected cellular component terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005769early endosome IEA--
    GO:0005829cytosol IEA--

    PACSIN2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PACSIN2
    Interactions:

        GeneGlobe Interaction Network for PACSIN2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PACSIN2 (Q9UNF01, 2, 3 ENSP000002632464) via UniProtKB, MINT, STRING, and/or I2D (see all 80)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPA1AP081073, ENSP000003648024I2D: score=1 STRING: ENSP00000364802
    ENSG00000212866P081073I2D: score=1 
    ENSG00000215328P081073I2D: score=1 
    ENSG00000224501P081073I2D: score=1 
    ENSG00000231555P081073I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030036actin cytoskeleton organization IEA--
    GO:0036010protein localization to endosome IMP--
    GO:0045806negative regulation of endocytosis IEA--
    GO:0048858cell projection morphogenesis ISS--
    GO:0070836caveola assembly IMP--

    PACSIN2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PACSIN2 (PACN2)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PACSIN2 gene (3 alternative transcripts): 
    NM_001184970.1  NM_001184971.1  NM_007229.3  

    Unigene Cluster for PACSIN2:

    Protein kinase C and casein kinase substrate in neurons 2
    Hs.162877  [show with all ESTs]
    Unigene Representative Sequence: NM_001184970
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000507586 ENST00000263246(uc010gzg.3 uc003bdg.4) ENST00000407585(uc003bdf.4)
    ENST00000403744 ENST00000402229 ENST00000453643 ENST00000418133 ENST00000422336
    ENST00000445706 ENST00000453079 ENST00000337959
    miRNA
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    Block miRNA regulation of human, mouse, rat PACSIN2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PACSIN2 (see all 13):
    hsa-miR-498 hsa-miR-3671 hsa-miR-875-3p hsa-miR-548d-3p hsa-miR-411 hsa-miR-4255 hsa-miR-4267 hsa-miR-146a*
    SwitchGear 3'UTR luciferase reporter plasmidPACSIN2 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat PACSIN2
      QuantiFast Probe-based Assays in human, mouse, rat PACSIN2

    Additional mRNA sequence: 

    AF128536.1 AK025107.1 AL136845.1 AL389984.1 AY007086.1 BC008037.2 CR456536.1 CR533523.1 

    24 DOTS entries:

    DT.418755  DT.100029132  DT.95363521  DT.97766432  DT.92440098  DT.100734587  DT.100816232  DT.91659855 
    DT.100668854  DT.92440103  DT.100816234  DT.40302735  DT.100029133  DT.100692261  DT.100816233  DT.100837396 
    DT.120646960  DT.91708149  DT.92000415  DT.92440105  DT.95186945  DT.95363522  DT.97855260  DT.99965832 

    Selected AceView cDNA sequences (see all 512):

    BM757646 BE047127 BM747236 AA397450 BQ921162 CA430748 CB158614 BM741184 
    AL389984 CK430211 CR456536 AI564351 BM758980 BM758288 AI445097 AA911743 
    AI401634 BM749809 BQ921618 BM748870 BM982147 AI023209 BM758473 BQ184379 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PACSIN2 (see all 10)    About this scheme

    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:                    -     -     -     -                                                                                                                     


    ECgene alternative splicing isoforms for PACSIN2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PACSIN2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTAGTATTT
    PACSIN2 Expression
    About this image


    PACSIN2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Colon (Gastrointestinal Tract)
     
     Adrenal Gland (Endocrine System)
     
     Kidney (Urinary System)
     
     Gall Bladder (Hepatobiliary System)
    PACSIN2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PACSIN2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.162877

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

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PACSIN2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for PACSIN2 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pacsin21 , 5 protein kinase C and casein kinase substrate in neurons more1, 5 89.03(n)1
    93.83(a)1
      15 (39.40 cM)5
    239701  NM_001159509.11  NP_001152981.11 
     833756075 
    chicken
    (Gallus gallus)
    Aves PACSIN21 protein kinase C and casein kinase substrate in neurons more 77(n)
    88.43(a)
      395975  NM_001159511.1  NP_001152983.1 
    lizard
    (Anolis carolinensis)
    Reptilia PACSIN26
    protein kinase C and casein kinase substrate in ne...
    83(a)
    1 ↔ 1
    5(86908099-86925602)
    African clawed frog
    (Xenopus laevis)
    Amphibia pacsin22 pacsin2 protein 77.28(n)    AJ277159.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC046073.12   -- 73.41(n)   393964  BC046073.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Synd1 Syndapin 53.91(n)
    45.61(a)
      42467  NM_001275857.1  NP_001262786.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F45E1.73
    sdpn-11
    sdpn-11 31(a)3
    44.26(n)1
    34.26(a)1
      X(8024443-8028056)3
    1810581  NM_001029493.21  NP_001024664.11 


    ENSEMBL Gene Tree for PACSIN2 (if available)
    TreeFam Gene Tree for PACSIN2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PACSIN2 gene
    PACSIN32  PACSIN12  
    Selected SIMAP similar genes for PACSIN2 using alignment to 7 protein entries:     PACN2_HUMAN (see all proteins) (see all similar genes):
    PKN1    PACSIN1    PLA2G15    SIPA1L3    APCDD1    AMN1
    ZNF737    PACSIN3    DNAAF1    DNAPTP3    PODXL    FP6651
    OK/SW-cl.41    SLC3A2    ZNF843    GOSR2    KIAA1651    ZNF195

    PACSIN2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PACSIN2 (see all 3287)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1816304821,2
    --43265276(+) TCAGGA/GATTTC 3 -- ds50010--------
    rs1485578671,2
    --43265309(+) AGACTA/CCTCAA 3 -- ds50010--------
    rs1858246051,2
    --43265353(+) CTCCTC/TGGTAG 3 -- ds50010--------
    rs1902899201,2
    --43265511(+) GGGCTA/GGGGCA 3 -- ds50010--------
    rs579622161,2
    C,F--43265555(+) GGAAGC/ACCAGG 3 -- ds50014Minor allele frequency- A:0.09CSA WA NA 241
    rs1811099051,2
    --43265601(+) CAAGGA/GGCTCA 3 -- ds50010--------
    rs580885561,2
    C,F--43265652(+) GGGCCG/ATGGCC 3 -- ds50012Minor allele frequency- A:0.07CSA WA 120
    rs64135101,2
    F--43265763(-) CCTTCG/ACCATC 3 -- ds50015Minor allele frequency- A:0.01MN 408
    rs64135091,2
    F--43265786(-) TTGATC/ATCGTG 3 -- ut31 ese35Minor allele frequency- A:0.01MN 408
    rs70741,2
    C,F,A,H--43265827(-) CTTTAC/AATGTG 3 -- ut31 ese333Minor allele frequency- A:0.34MN NS EA NA WA CSA 3467

    HapMap Linkage Disequilibrium report for PACSIN2 (43231418 - 43411184 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PACSIN2 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2724290CNV Deletion23290073
    esv2055252CNV Deletion18987734
    esv2724292CNV Deletion23290073
    esv2724291CNV Deletion23290073
    esv2724293CNV Deletion23290073
    nsv508738CNV Insertion20534489
    esv271060CNV Insertion20981092
    nsv915196CNV Loss21882294
    nsv834213CNV Loss17160897
    esv33930CNV Loss17666407

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PACSIN2
    DNA2.0 Custom Variant and Variant Library Synthesis for PACSIN2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604960    OMIM disorders: --

    6 diseases for PACSIN2:    
    About MalaCards
    neuronitis    wiskott-aldrich syndrome    huntington's disease    prostate cancer
    prostatitis    malaria


    PACSIN2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): PACSIN2
    Human Genome Epidemiology (HuGE) Navigator: PACSIN2 (4 documents)

    Export disorders for PACSIN2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PACSIN2 gene, integrated from 10 sources (see all 47):
    (articles sorted by number of sources associating them with PACSIN2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. PACSIN 2, a novel member of the PACSIN family of cytoplasmic adapter proteins. (PubMed id 10431838)1, 2, 3, 9 Ritter B.... Plomann M. (FEBS Lett. 1999)
    2. All three PACSIN isoforms bind to endocytic proteins and inhibit endocytosis. (PubMed id 11082044)1, 2, 3, 9 Modregger J.... Plomann M. (J. Cell Sci. 2000)
    3. PACSIN 3 is a novel SH3 domain cytoplasmic adapter protein of the pacsin-syndapin-FAP52 gene family. (PubMed id 11179684)1, 2, 9 Sumoy L.... Escarceller M. (Gene 2001)
    4. Cooperation of MICAL-L1, syndapin2, and phosphatidic acid in tubular recycling endosome biogenesis. (PubMed id 23596323)1, 2 Giridharan S.S.... Caplan S. (Mol. Biol. Cell 2013)
    5. The F-BAR protein PACSIN2 regulates epidermal growth factor receptor internalization. (PubMed id 23129763)1, 2 de Kreuk B.J.... Hordijk P.L. (J. Biol. Chem. 2012)
    6. Essential role of PACSIN2/syndapin-II in caveolae membrane sculpting. (PubMed id 21610094)1, 2 Senju Y.... Suetsugu S. (J. Cell Sci. 2011)
    7. The F-BAR domain protein PACSIN2 associates with Rac1 and regulates cell spreading and migration. (PubMed id 21693584)1, 2 de Kreuk B.J.... Hordijk P.L. (J. Cell Sci. 2011)
    8. Mapping of the basic amino-acid residues responsible for tubulation and cellular protrusion by the EFC/F-BAR domain of pacsin2/Syndapin II. (PubMed id 20188097)1, 2 Shimada A.... Suetsugu S. (FEBS Lett. 2010)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    10. Prostate cancer risk-associated variants reported from genome-wide association studies: meta-analysis and their contribution to genetic Variation. (PubMed id 20564319)1, 4 Kim S.T....Sun J. (Prostate 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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, Kegg, and/or H-InvDB)
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    Entrez Gene: 11252 HGNC: 8571 AceView: PACSIN2andARFGAP3 Ensembl:ENSG00000100266 euGenes: HUgn11252
    ECgene: PACSIN2 H-InvDB: PACSIN2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PACSIN2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PACSIN2 gene:
    Search GeneIP for patents involving PACSIN2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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