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ACAP2 Gene

protein-coding   GIFtS: 54
GCID: GC03M194995

ArfGAP With Coiled-Coil, Ankyrin Repeat And PH Domains 2

(Previous names: centaurin, beta 2)
(Previous symbol: CENTB2)
  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
ArfGAP With Coiled-Coil, Ankyrin Repeat And PH Domains 21 2     Arf GAP With Coiled Coil, ANK Repeat And PH Domains 22
CENTB21 2 3 5     Arf-GAP With Coiled-Coil, ANK Repeat And PH Domain-Containing Protein 22
Centaurin, Beta 21 2     centaurin-beta-22
KIAA00413 5     Centaurin-beta-23
CNT-B22     Cnt-b23

External Ids:    HGNC: 164691   Entrez Gene: 235272   Ensembl: ENSG000001143317   OMIM: 6077665   UniProtKB: Q150573   

Export aliases for ACAP2 gene to outside databases

Previous GC identifers: GC03M196477 GC03M192371


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ACAP2 Gene:
ACAP2 (ArfGAP with coiled-coil, ankyrin repeat and PH domains 2) is a protein-coding gene. Diseases associated with ACAP2 include cowpox, and vaccinia. GO annotations related to this gene include phospholipid binding and ARF GTPase activator activity. An important paralog of this gene is AGAP5.

UniProtKB/Swiss-Prot: ACAP2_HUMAN, Q15057
Function: GTPase-activating protein (GAP) for ADP ribosylation factor 6 (ARF6)

Gene Wiki entry for ACAP2 (CENTB2) 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_000003.12  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACAP2 gene promoter:
         GR   STAT5B   STAT1   STAT1beta   AP-4   Meis-1b   STAT1alpha   GR-alpha   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACAP2 promoter sequence
   Search Chromatin IP Primers for ACAP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACAP2


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

Entrez Gene cytogenetic band: 3q29   Ensembl cytogenetic band:  3q29   HGNC cytogenetic band: 3q29

ACAP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACAP2 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M194995:  view genomic region     (about GC identifiers)

Start:
194,995,465 bp from pter      End:
195,163,817 bp from pter
Size:
168,353 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: ACAP2_HUMAN, Q15057 (See protein sequence)
Recommended Name: Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2  
Size: 778 amino acids; 88029 Da
Subunit: Interacts with RAB35 (GTP-bound form); the interaction is direct and probably recruits ACAP2 to
membranes. Interacts with MICALL1; the interaction is indirect through RAB35 (By similarity)
Sequence caution: Sequence=BAA05064.2; Type=Erroneous initiation; Sequence=CAB41450.1; Type=Frameshift;
Positions=98, 106, 111;
Secondary accessions: A8K2V4 Q8N5Z8 Q9UQR3

Explore the universe of human proteins at neXtProt for ACAP2: NX_Q15057

Explore proteomics data for ACAP2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ACAP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_036419.3  
    ENSEMBL proteins: 
     ENSP00000324287   ENSP00000412338   ENSP00000413388   ENSP00000399855   ENSP00000411336  
     ENSP00000405262  

    ACAP2 Human Recombinant Protein 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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    HGNC Gene Families:
    PLEKH: Pleckstrin homology (PH) domain containing
    ANKRD: Ankyrin repeat domain containing
    ArfGAP: ADP-ribosylation factor GTPase activating proteins

    Selected InterPro protein domains (see all 6):
     IPR027267 AH/BAR-dom
     IPR001849 Pleckstrin_homology
     IPR001164 ArfGAP
     IPR011993 PH_like_dom
     IPR002110 Ankyrin_rpt

    Graphical View of Domain Structure for InterPro Entry Q15057

    ProtoNet protein and cluster: Q15057

    3 Blocks protein domains:
    IPB001164 HIV Rev interacting protein signature
    IPB001849 Pleckstrin-like
    IPB002110 Ankyrin repeat signature


    UniProtKB/Swiss-Prot: ACAP2_HUMAN, Q15057
    Similarity: Contains 3 ANK repeats
    Similarity: Contains 1 Arf-GAP domain
    Similarity: Contains 1 BAR domain
    Similarity: Contains 1 PH domain


    ACAP2 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: ACAP2_HUMAN, Q15057
    Function: GTPase-activating protein (GAP) for ADP ribosylation factor 6 (ARF6)
    Enzyme regulation: GAP activity stimulated by phosphatidylinositol 4,5-bisphosphate (PIP2) and phosphatidic acid

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0008060ARF GTPase activator activity IEA--
    GO:0008270zinc ion binding IEA--
         
    ACAP2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACAP2
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    miRNA
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    miRTarBase miRNAs that target ACAP2:
    hsa-mir-378a-3p (MIRT043930)

    Block miRNA regulation of human, mouse, rat ACAP2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ACAP2 (see all 71):
    hsa-miR-548j hsa-miR-26a-2* hsa-miR-640 hsa-miR-607 hsa-miR-361-5p hsa-miR-106a hsa-miR-30d hsa-miR-4267
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACAP2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACAP2


    (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
    ACAP2_HUMAN, Q15057: Endosome membrane; Peripheral membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    endosome1
    golgi apparatus1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010008endosome membrane ISS--

    ACAP2 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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    SuperPaths for ACAP2 About    
    See pathways by source

    SuperPathContained pathways About
    1Endocytosis
    Endocytosis
    2Arf6 signaling events
    Arf6 signaling events

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for ACAP2
        Arf6 signaling events


    1 Kegg Pathway  (Kegg details for ACAP2):
        Endocytosis


    ACAP2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ACAP2
    Interactions:

        Search GeneGlobe Interaction Network for ACAP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    Selected Interacting proteins for ACAP2 (ENSP000003242874) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARF6ENSP000002983164STRING: ENSP00000298316
    TFRCENSP000003532244STRING: ENSP00000353224
    VAMP3ENSP000000546664STRING: ENSP00000054666
    FAM107BENSP000001817964STRING: ENSP00000181796
    FA2HENSP000002193684STRING: ENSP00000219368
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0032312regulation of ARF GTPase activity IEA--
    GO:0036010protein localization to endosome ISS--
    GO:1990090cellular response to nerve growth factor stimulus ISS--

    ACAP2 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 ACAP2

    Selected HMDB Compounds for ACAP2 (see all 12)    About this table
    CompoundSynonyms CAS #PubMed Ids
    PA(16:0/16:0)Dipalmitoylphosphatidic acid (see all 25)7091-44-3--
    PA(16:0/18:1(11Z))PA(16:0/18:1n7) (see all 10)----
    PA(16:0/18:1(9Z))PA(16:0/18:1n9) (see all 10)----
    PA(16:0/18:2(9Z,12Z))PA(34:2) (see all 10)----
    PA(16:0e/18:0)2-octadecanoyl-1-hexadecyl-sn-glycero-3-phosphate ;PA(o-16:0/18:0) ----
    PA(18:0/18:2(9Z,12Z))PA(36:2) (see all 10)----
    PA(18:1(11Z)/18:1(11Z))PA(36:2) (see all 10)----
    PA(18:1(11Z)/18:1(9Z))PA(36:2) (see all 10)----
    PA(18:1(9Z)/18:1(11Z))PA(36:2) (see all 10)----
    PA(18:1(9Z)/18:1(9Z))PA(36:2) (see all 10)14268-17-8--



    (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 ACAP2 gene: 
    NM_012287.5  

    Unigene Cluster for ACAP2:

    ArfGAP with coiled-coil, ankyrin repeat and PH domains 2
    Hs.593373  [show with all ESTs]
    Unigene Representative Sequence: NM_012287
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000326793(uc003fun.4) ENST00000472860 ENST00000466876 ENST00000450200
    ENST00000475905 ENST00000484296 ENST00000439758 ENST00000471593 ENST00000423531
    ENST00000480906(uc003fuo.3) ENST00000481463 ENST00000439666 ENST00000447662
    ENST00000490224
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ACAP2 (see all 71):
    hsa-miR-548j hsa-miR-26a-2* hsa-miR-640 hsa-miR-607 hsa-miR-361-5p hsa-miR-106a hsa-miR-30d hsa-miR-4267
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    GenScript: all cDNA clones in your preferred vector: ACAP2 (NM_012287)
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    Primer
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    OriGene qPCR primer pairs and template standards for ACAP2
    OriGene qSTAR qPCR primer pairs in human, mouse for ACAP2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ACAP2
      QuantiTect SYBR Green Assays in human, mouse, rat ACAP2
      QuantiFast Probe-based Assays in human, mouse, rat ACAP2

    Additional mRNA sequence: 

    AJ238248.1 AK222635.1 AK290369.1 BC014843.1 BC017120.1 BC031005.1 BC047579.1 BC060767.1 
    D26069.3 

    7 DOTS entries:

    DT.95170129  DT.95170125  DT.75155821  DT.418234  DT.91930605  DT.95287242  DT.97798858 

    Selected AceView cDNA sequences (see all 187):

    N31607 AI818226 BC017120 CA449707 BU631985 BU629714 R23188 BU634501 
    AI435965 BU619832 BM976346 CA445791 BQ006031 BM986786 AA237088 AI453319 
    AA910061 N42667 CA424827 BC047579 AA742598 AI218380 CA413842 AA300528 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ACAP2 (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                          -     -     -     -     -                                                                                                         
    SP4:                          -     -           -                                                                                                               
    SP5:                                -     -     -     -                                                                                                         

    ExUns: 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24a · 24b ^ 25 ^ 26 ^ 27
    SP1:                                                            
    SP2:                                                            
    SP3:                                                            
    SP4:                                                            
    SP5:                                                            


    ECgene alternative splicing isoforms for ACAP2

    (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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    ACAP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATGTAGTTT
    ACAP2 Expression
    About this image


    ACAP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    ACAP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACAP2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.593373

    UniProtKB/Swiss-Prot: ACAP2_HUMAN, Q15057
    Tissue specificity: Widely expressed. Highest level in lung

        Custom PCR Arrays for ACAP2
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    QuantiFast Probe-based Assays in human, mouse, rat ACAP2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACAP2

    (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 eukaryotes.

    Orthologs for ACAP2 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acap21 , 5 ArfGAP with coiled-coil, ankyrin repeat and PH domains more1, 5 89.31(n)1
    96.23(a)1
      16 (21.34 cM)5
    786181  NM_030138.21  NP_084414.11 
     310924135 
    chicken
    (Gallus gallus)
    Aves ACAP21 ArfGAP with coiled-coil, ankyrin repeat and PH domains more 80.22(n)
    88.55(a)
      424895  NM_001006548.1  NP_001006548.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    8(a)
    many ↔ many
    GL343598.1(25459-83884)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC687122 hypothetical protein MGC68712 80.59(n)    BC060484.1 
    zebrafish
    (Danio rerio)
    Actinopterygii acap26
    ACAP2 (1 of 2)6
    ArfGAP with coiled-coil, ankyrin repeat and PH dom...
    ArfGAP with coiled-coil, ankyrin repeat and PH dom...
    70(a)
    65(a)
    1 ↔ many
    1 ↔ many
    22(40718184-40782075) ENSDARG00000060783
    2(5530016-5566691) ENSDARG00000056478
    fruit fly
    (Drosophila melanogaster)
    Insecta cenB1A1 centaurin beta 1A 48.08(n)
    41.29(a)
      42735  NM_079734.5  NP_524458.1 
    worm
    (Caenorhabditis elegans)
    Secernentea cnt-11 cnt-1 46.32(n)
    36.81(a)
      174848  NM_001027241.1  NP_001022412.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AGE16
    ADP-ribosylation factor (ARF) GTPase activating pr...
    21(a)
    1 → many
    IV(1487542-1488990) YDR524C
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AGD21 AGD2 47.08(n)
    34.34(a)
      842378  NM_104767.3  NP_176283.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g06325001 Os02g0632500 47.94(n)
    34.02(a)
      4330061  NM_001054038.1  NP_001047503.1 


    ENSEMBL Gene Tree for ACAP2 (if available)
    TreeFam Gene Tree for ACAP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACAP2 gene
    AGAP52  AGAP62  ASAP12  ARAP32  ACAP32  ASAP22  ARAP12  AGAP32  
    ARAP22  AGAP22  AGAP42  AGAP12  AGAP82  ACAP12  AGAP72  AGAP102  
    AGAP92  ASAP32  
    3 SIMAP similar genes for ACAP2 using alignment to 6 protein entries:     ACAP2_HUMAN (see all proteins):
    ACAP3    ACAP1    ARFGAP1

    ACAP2 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)
    About This Section

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    Selected SNPs for ACAP2 (see all 3512)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1121877971,2
    C--194929706(+) TTTTCGTGTGTGT
    GTGTGT
    /-
    GTGTG
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs1923739671,2
    --194994993(+) GTTATA/GTTGAA 1 -- int10--------
    rs1120150511,2
    C--194995026(+) TTAGC-/TTTTTT 1 -- int11Minor allele frequency- T:0.00CSA 2
    rs76110861,2
    C,F,A,H--194995096(+) TTCAGT/CCCCAA 1 -- int110Minor allele frequency- C:0.06EA NS NA WA 1092
    rs1827006961,2
    --194995160(+) GCTGCA/TTAGAT 1 -- int10--------
    rs726078951,2
    C--194995244(+) TTTATC/ATTTTT 1 -- int12Minor allele frequency- A:0.10NA EA 122
    rs1387942121,2
    C--194995503(+) GACTTA/GTTGTA 1 -- ut310--------
    rs1495121201,2
    --194995660(+) AAAAAA/GTAAAT 1 -- ut310--------
    rs1879920341,2
    --194995730(+) ATGTAA/GTAAGT 1 -- ut310--------
    rs1916398381,2
    --194995741(+) CTTTAC/TGACTG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for ACAP2 (194995465 - 195163817 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ACAP2 (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2669458CNV Deletion23128226
    esv2662107CNV Deletion23128226
    esv2657233CNV Deletion23128226
    esv2726463CNV Deletion23290073
    esv269140CNV Insertion20981092
    nsv508977CNV Insertion20534489
    nsv878142CNV Loss21882294
    dgv5364n71CNV Loss21882294
    dgv5365n71CNV Loss21882294
    nsv829824CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACAP2
    DNA2.0 Custom Variant and Variant Library Synthesis for ACAP2

    (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: 607766    OMIM disorders: --

    5 diseases for ACAP2:    
    About MalaCards
    cowpox    vaccinia    kaposi's sarcoma    sarcoma
    malaria

    1 disease from the University of Copenhagen DISEASES database for ACAP2:
    Cowpox

    ACAP2 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: ACAP2 (1 document)

    Export disorders for ACAP2 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 ACAP2 gene, integrated from 10 sources (see all 23):
    (articles sorted by number of sources associating them with ACAP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. ACAPs are arf6 GTPase-activating proteins that function in the cell periphery. (PubMed id 11062263)1, 2, 3, 9 Jackson T.R.... Randazzo P.A. (J. Cell Biol. 2000)
    2. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (Nat. Biotechnol. 2005)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Cytohesins and centaurins: mediators of PI 3-kinase-regulated Arf signaling. (PubMed id 11050434)1, 3 Jackson T.R....Theibert A.B. (Trends Biochem. Sci. 2000)
    5. Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1. (PubMed id 7584044)1, 2 Nomura N.... Tabata S. (DNA Res. 1994)
    6. Identification of pleckstrin-homology-domain-containing proteins with novel phosphoinositide-binding specificities. (PubMed id 11001876)1, 9 Dowler S.J.... Alessi D.R. (Biochem. J. 2000)
    7. Deubiquitinase FAM/USP9X interacts with the E3 ubiquitin ligase SMURF1 protein and protects it from ligase activity-dependent self-degradation. (PubMed id 23184937)1 Xie Y....Cong F. (J. Biol. Chem. 2013)
    8. A protein array screen for Kaposi's sarcoma-associated herpesvirus LANA interactors links LANA to TIP60, PP2A activity, and telomere shortening. (PubMed id 22379092)1 Shamay M....Hayward S.D. (J. Virol. 2012)
    9. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)

    (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: 23527 HGNC: 16469 AceView: CENTB2 Ensembl:ENSG00000114331 euGenes: HUgn23527
    ECgene: ACAP2 Kegg: 23527 H-InvDB: ACAP2

    (According to HUGE)
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    HUGE: KIAA0041

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ACAP2 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 ACAP2 gene:
    Search GeneIP for patents involving ACAP2

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



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