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SMAP2 Gene

protein-coding   GIFtS: 54
GCID: GC01P040810

Small ArfGAP2

(Previous names: stromal membrane-associated protein 1-like, stromal membrane-associated...)
(Previous symbol: SMAP1L)
  See related disease
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
Small ArfGAP21 2     Stromal Membrane-Associated Protein 22
SMAP1L1 2 3     DTDP15
Stromal Membrane-Associated GTPase-Activating Protein 21 2     SMOC25
Stromal Membrane-Associated Protein 1-Like1 3     

External Ids:    HGNC: 250821   Entrez Gene: 647442   Ensembl: ENSG000000840707   OMIM: 6072235   UniProtKB: Q8WU793   

Export aliases for SMAP2 gene to outside databases

Previous GC identifers: GC01P040614 GC01P038958


(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 SMAP2 Gene:
SMAP2 (small ArfGAP2) is a protein-coding gene. Diseases associated with SMAP2 include dentin dysplasia, type i, with microdontia and misshapen teeth. GO annotations related to this gene include ARF GTPase activator activity. An important paralog of this gene is SMAP1.

UniProtKB/Swiss-Prot: SMAP2_HUMAN, Q8WU79
Function: GTPase activating protein that acts on ARF1. Can also activate ARF6 (in vitro). May play a role in
clathrin-dependent retrograde transport from early endosomes to the trans-Golgi network (By similarity)




(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_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SMAP2 gene promoter:
         c-Fos   AP-1   AML1a   p53   FosB   CREB   FOXJ2 (long isoform)   deltaCREB   c-Jun   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SMAP2 promoter sequence
   Search Chromatin IP Primers for SMAP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SMAP2


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

Entrez Gene cytogenetic band: 1p35.3-p34.1   Ensembl cytogenetic band:  1p34.2   HGNC cytogenetic band: 1p35.3-p34.1

SMAP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMAP2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P040810:  view genomic region     (about GC identifiers)

Start:
40,810,522 bp from pter      End:
40,888,998 bp from pter
Size:
78,477 bases      Orientation:
plus 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: SMAP2_HUMAN, Q8WU79 (See protein sequence)
Recommended Name: Stromal membrane-associated protein 2  
Size: 429 amino acids; 46786 Da
Subunit: Interacts with ARF1. Interacts with PICALM and clathrin heavy chains (By similarity)
1 PDB 3D structure from and Proteopedia for SMAP2:
2IQJ (3D)    
Secondary accessions: B2R7T1 B7Z5B5 B7Z8V2 D3DPV2 Q5QPL2 Q96C93 Q9NST2 Q9UJL8
Alternative splicing: 3 isoforms:  Q8WU79-1   Q8WU79-2   Q8WU79-3   

Explore the universe of human proteins at neXtProt for SMAP2: NX_Q8WU79

Explore proteomics data for SMAP2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys66
  • Modification sites at PhosphoSitePlus

  • See SMAP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001185907.1  NP_001185908.1  NP_001185909.1  NP_073570.1  

    ENSEMBL proteins: 
     ENSP00000389895   ENSP00000361803   ENSP00000361793   ENSP00000442835  

    SMAP2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for SMAP2
    GenScript Custom Purified and Recombinant Proteins Services for SMAP2
    Novus Biologicals SMAP2 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SMAP2

    SMAP2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for SMAP2
    Novus Biologicals SMAP2 Antibodies
    Abcam antibodies for SMAP2
    Cloud-Clone Corp. Antibodies for SMAP2
    Search ThermoFisher Antibodies for SMAP2
    LSBio Antibodies in human, mouse, rat for SMAP2

    SMAP2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SMAP2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SMAP2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SMAP2
    Cloud-Clone Corp. CLIAs for SMAP2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ArfGAP: ADP-ribosylation factor GTPase activating proteins

    1 InterPro protein domain:
     IPR001164 ArfGAP

    Graphical View of Domain Structure for InterPro Entry Q8WU79

    ProtoNet protein and cluster: Q8WU79

    1 Blocks protein domain: IPB001164 HIV Rev interacting protein signature

    UniProtKB/Swiss-Prot: SMAP2_HUMAN, Q8WU79
    Similarity: Contains 1 Arf-GAP domain


    SMAP2 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: SMAP2_HUMAN, Q8WU79
    Function: GTPase activating protein that acts on ARF1. Can also activate ARF6 (in vitro). May play a role in
    clathrin-dependent retrograde transport from early endosomes to the trans-Golgi network (By similarity)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008060ARF GTPase activator activity IEA--
    GO:0008270zinc ion binding IEA--
         
    SMAP2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SMAP2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SMAP2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SMAP2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SMAP2

    miRNA
    Products:
        
    miRTarBase miRNAs that target SMAP2:
    hsa-let-7e-5p (MIRT051572), hsa-mir-92a-3p (MIRT049376), hsa-mir-92b-3p (MIRT040553), hsa-mir-25-3p (MIRT050238), hsa-mir-652-3p (MIRT039542), hsa-mir-708-5p (MIRT037758)

    Block miRNA regulation of human, mouse, rat SMAP2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SMAP2 (see all 35):
    hsa-let-7d hsa-miR-15a hsa-miR-218-1* hsa-miR-578 hsa-let-7g hsa-miR-9 hsa-miR-424 hsa-let-7a
    SwitchGear 3'UTR luciferase reporter plasmidSMAP2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SMAP2
    Predesigned siRNA for gene silencing in human, mouse, rat SMAP2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SMAP2

    Clone
    Products:
         
    OriGene clones in human, mouse for SMAP2 (see all 16)
    OriGene ORF clones in mouse, rat for SMAP2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): SMAP2 (NM_001198979)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SMAP2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMAP2

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SMAP2
    Browse ESI BIO Cell Lines and PureStem Progenitors for SMAP2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMAP2


    (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
    SMAP2_HUMAN, Q8WU79: Cytoplasm. Note=Detected in multiple foci throughout the cytoplasm and in juxtanuclear
    structures (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol3

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    SMAP2 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 SMAP2 About    
    See pathways by source

    SuperPathContained pathways About
    1Endocytosis
    Endocytosis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for SMAP2):
        Endocytosis


    SMAP2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SMAP2
    Interactions:

        Search GeneGlobe Interaction Network for SMAP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    Selected Interacting proteins for SMAP2 (ENSP000003618034) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MRGBPENSP000003595184STRING: ENSP00000359518
    TTC4ENSP000003603294STRING: ENSP00000360329
    ARFGAP1ENSP000003146154STRING: ENSP00000314615
    MOSPD2ENSP000003698604STRING: ENSP00000369860
    AP3D1ENSP000003440554STRING: ENSP00000344055
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0032312regulation of ARF GTPase activity IEA--

    SMAP2 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 SMAP2



    (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 SMAP2 gene (4 alternative transcripts): 
    NM_001198978.1  NM_001198979.1  NM_001198980.1  NM_022733.2  

    Unigene Cluster for SMAP2:

    Small ArfGAP2
    Hs.15200  [show with all ESTs]
    Unigene Representative Sequence: NM_022733
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000435168 ENST00000372718(uc010ojh.2 uc001cfj.3) ENST00000372708(uc001cfk.3 uc021oma.1 uc010oji.2 uc010ojj.2)
    ENST00000487871 ENST00000539317
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SMAP2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SMAP2 (see all 35):
    hsa-let-7d hsa-miR-15a hsa-miR-218-1* hsa-miR-578 hsa-let-7g hsa-miR-9 hsa-miR-424 hsa-let-7a
    SwitchGear 3'UTR luciferase reporter plasmidSMAP2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SMAP2
    Predesigned siRNA for gene silencing in human, mouse, rat SMAP2
    Clone
    Products:
         
    OriGene clones in human, mouse for SMAP2 (see all 16)
    OriGene ORF clones in mouse, rat for SMAP2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): SMAP2 (NM_001198979)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SMAP2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMAP2
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for SMAP2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SMAP2
      QuantiTect SYBR Green Assays in human, mouse, rat SMAP2
      QuantiFast Probe-based Assays in human, mouse, rat SMAP2

    Additional mRNA sequence: 

    AK294675.1 AK298702.1 AK303975.1 AK308280.1 AK313105.1 AK316218.1 AL133206.1 AL137764.1 
    BC014512.1 BC021133.1 

    22 DOTS entries:

    DT.95084422  DT.100788986  DT.100788985  DT.91871563  DT.95084424  DT.121455548  DT.121455570  DT.91709282 
    DT.91798780  DT.91928820  DT.95084426  DT.100743993  DT.75185348  DT.92429819  DT.95316147  DT.95362284 
    DT.100676060  DT.121455536  DT.75123591  DT.91654083  DT.95084427  DT.97854429 

    Selected AceView cDNA sequences (see all 215):

    BE467296 F02617 AW467220 Z43969 BQ719655 AL133206 BC014512 AI288517 
    AA872328 BE465267 CA312506 BM977398 BC021133 CA436192 NM_022733 CB529519 
    BX282026 AI298661 AW102984 AL137764 BF110646 T30306 BM477933 AA303231 

    GeneLoc Exon Structure


    (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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    SMAP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTGGGAACC
    SMAP2 Expression
    About this image


    SMAP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Gall Bladder (Hepatobiliary System)
     
     Spleen (Hematopoietic System)
    SMAP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SMAP2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.15200
        Custom PCR Arrays for SMAP2
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for SMAP2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SMAP2
    QuantiTect SYBR Green Assays in human, mouse, rat SMAP2
    QuantiFast Probe-based Assays in human, mouse, rat SMAP2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMAP2

    (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 SMAP2 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smap21 , 5 stromal membrane-associated GTPase-activating protein more5
    small ArfGAP 21
    91.04(n)1
    94.63(a)1
      4 (56.70 cM)5
    697801  NM_133716.31  NP_598477.21 
     1209683175 
    chicken
    (Gallus gallus)
    Aves SMAP21 small ArfGAP2 76.84(n)
    79.58(a)
      419641  NM_001030902.1  NP_001026073.1 
    lizard
    (Anolis carolinensis)
    Reptilia SMAP26
    small ArfGAP2
    79(a)
    1 ↔ 1
    GL343308.1(98878-121975)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia smap21 small ArfGAP2 70.71(n)
    70.48(a)
      100496482  XM_004911606.1  XP_004911663.1 
    zebrafish
    (Danio rerio)
    Actinopterygii smap21 small ArfGAP2 62.01(n)
    60.05(a)
      556132  NM_001044795.1  NP_001038260.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG82431 CG8243 48.83(n)
    41.89(a)
      35890  NM_136580.2  NP_610424.1 
    worm
    (Caenorhabditis elegans)
    Secernentea W09D10.16
    Protein W09D10.1 (W09D10.1) mRNA, complete cds
    29(a)
    1 → many
    III(10736893-10739792) WBGene00012359
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AGE2(YIL044C)4 ADP-ribosylation factor (ARF) GTPase activating protein more   --   9(273846-272950) 854767  NP_012220.1 
    barley
    (Hordeum vulgare)
    Liliopsida BG300565.12   -- 72.1(n)    BG300565.1 


    ENSEMBL Gene Tree for SMAP2 (if available)
    TreeFam Gene Tree for SMAP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SMAP2 gene
    SMAP12  ADAP22  ADAP12  
    2 SIMAP similar genes for SMAP2 using alignment to 1 protein entry:     SMAP2_HUMAN:
    ARFGAP1    SMAP1

    SMAP2 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 SMAP2 (see all 1039)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs112079641,2
    C,F,H--40837481(+) attatA/Gttaca 1 -- us2k114Minor allele frequency- G:0.05NS EA NA WA 1888
    rs1887620371,2
    --40837582(+) GGCACC/GAAGAG 1 -- us2k10--------
    rs1807310991,2
    --40837654(+) AAGCAC/TTCTTG 1 -- us2k10--------
    rs1852480291,2
    --40837708(+) ACTAGG/TTGGGA 1 -- us2k10--------
    rs1431374221,2
    --40837742(+) GGCAAC/TGGAGA 1 -- us2k10--------
    rs1884720521,2
    --40837809(+) AGCTCA/CCTCTA 1 -- us2k10--------
    rs1820695441,2
    --40837823(+) AGCACC/GGTGAA 1 -- us2k10--------
    rs1874296601,2
    --40837832(+) AAGGAC/TTAATT 1 -- us2k10--------
    rs10097311,2
    C,F--40837969(-) CCCTGT/ACTCAa 1 -- us2k11Minor allele frequency- A:0.04NA 120
    rs1120551,2
    C,F,A--40838065(-) atgccA/Ggagcc 1 -- us2k110Minor allele frequency- G:0.37NA WA CSA EA 372

    HapMap Linkage Disequilibrium report for SMAP2 (40810522 - 40888998 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SMAP2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv870632CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SMAP2
    DNA2.0 Custom Variant and Variant Library Synthesis for SMAP2

    (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: 607223   
    OMIM disorders: 125400  
    1 disease for SMAP2:    
    About MalaCards
    dentin dysplasia, type i, with microdontia and misshapen teeth


    SMAP2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SMAP2
    Human Genome Epidemiology (HuGE) Navigator: SMAP2 (5 documents)

    Export disorders for SMAP2 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 SMAP2 gene, integrated from 10 sources (see all 21):
    (articles sorted by number of sources associating them with SMAP2)
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    1. Putative association of SMAPIL polymorphisms with risk of aspirin intolerance in asthmatics. (PubMed id 20831471)1, 4 Kim J.Y....Shin H.D. (J Asthma 2010)
    2. SMAP2, a novel ARF GTPase-activating protein, interacts with clathrin and clathrin assembly protein and functions on the AP-1-positive early endosome/trans-Golgi network. (PubMed id 16571680)1, 3 Natsume W....Satake M. (Mol. Biol. Cell 2006)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    4. 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)
    5. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    6. 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)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    8. The carboxy-terminal region of SMAP2 directs subcellular localization as well as Arf protein specificity. (PubMed id 21147065)1 Sakakura I....Watanabe T. (Biochem. Biophys. Res. Commun. 2011)
    9. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    10. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 64744 HGNC: 25082 AceView: LOC64744 Ensembl:ENSG00000084070 euGenes: HUgn64744
    ECgene: SMAP2 Kegg: 64744 H-InvDB: SMAP2

    (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 SMAP2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SMAP2 gene:
    Search GeneIP for patents involving SMAP2

    GeneCards and IP:
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