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SEC22A Gene

protein-coding   GIFtS: 50
GCID: GC03P122920

SEC22 Vesicle Trafficking Protein Homolog A (S. Cerevisiae)

(Previous name: SEC22 vesicle trafficking protein-like 2 (S. cerevisiae))
(Previous symbol: SEC22L2)
  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
SEC22 Vesicle Trafficking Protein Homolog A (S. Cerevisiae)1 2     SEC22 Vesicle Trafficking Protein-Like 2 (S. Cerevisiae)1
SEC22L21 2 3 5     Sec22 Homolog2
SEC22 Vesicle-Trafficking Protein Homolog A2 3     SEC22 Vesicle Trafficking Protein-Like 22
SEC22 Vesicle-Trafficking Protein-Like 22 3     Vesicle-Trafficking Protein SEC22a2

External Ids:    HGNC: 202601   Entrez Gene: 269842   Ensembl: ENSG000001215427   OMIM: 6124425   UniProtKB: Q96IW73   

Export aliases for SEC22A gene to outside databases

Previous GC identifers: GC03P119643 GC03P124404 GC03P120295


(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 SEC22A Gene:
The protein encoded by this gene belongs to the member of the SEC22 family of vesicle trafficking proteins. This
protein has similarity to rat SEC22 and may act in the early stages of the secretory pathway. (provided by
RefSeq, Nov 2008)

GeneCards Summary for SEC22A Gene:
SEC22A (SEC22 vesicle trafficking protein homolog A (S. cerevisiae)) is a protein-coding gene. Diseases associated with SEC22A include neuronitis. GO annotations related to this gene include transporter activity. An important paralog of this gene is SEC22C.

UniProtKB/Swiss-Prot: SC22A_HUMAN, Q96IW7
Function: May be involved in vesicle transport between the ER and the Golgi complex (By similarity)

Gene Wiki entry for SEC22A 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  NC_018914.2  NT_005612.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the SEC22A gene promoter:
         TBP   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   LCR-F1   FOXJ2 (long isoform)   TFIID   FOXJ2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSEC22A promoter sequence
   Search Chromatin IP Primers for SEC22A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SEC22A


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

Entrez Gene cytogenetic band: 3q21.1   Ensembl cytogenetic band:  3q21.1   HGNC cytogenetic band: 3q21.1

SEC22A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SEC22A gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P122920:  view genomic region     (about GC identifiers)

Start:
122,920,774 bp from pter      End:
122,992,983 bp from pter
Size:
72,210 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: SC22A_HUMAN, Q96IW7 (See protein sequence)
Recommended Name: Vesicle-trafficking protein SEC22a  
Size: 307 amino acids; 34948 Da
Sequence caution: Sequence=AAD43013.1; Type=Frameshift; Positions=265, 288;
Secondary accessions: B2RE26 Q9Y682

Explore the universe of human proteins at neXtProt for SEC22A: NX_Q96IW7

Explore proteomics data for SEC22A at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SEC22A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_036562.2  
    ENSEMBL proteins: 
     ENSP00000417200   ENSP00000417972   ENSP00000420343   ENSP00000420128   ENSP00000419039  
     ENSP00000420574   ENSP00000417219   ENSP00000420015   ENSP00000310521  

    SEC22A Human Recombinant Protein Products:

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    OriGene Purified Protein for SEC22A
    OriGene Protein Over-expression Lysate for SEC22A
    OriGene MassSpec for SEC22A
    OriGene Custom Protein Services for SEC22A
    GenScript Custom Purified and Recombinant Proteins Services for SEC22A
    Novus Biologicals SEC22A Protein
    Novus Biologicals SEC22A Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SEC22A

    SEC22A Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals SEC22A Antibodies
    Search for Antibodies for SEC22A at Abcam
    Cloud-Clone Corp. Antibodies for SEC22A
    Search ThermoFisher Antibodies for SEC22A
    LSBio Antibodies in human, mouse, rat for SEC22A

    SEC22A Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for SEC22A
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SEC22A
    Cloud-Clone Corp. CLIAs for SEC22A


    (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:
     IPR010908 Longin_dom
     IPR027152 Sec22
     IPR011012 Longin-like_dom

    Graphical View of Domain Structure for InterPro Entry Q96IW7

    ProtoNet protein and cluster: Q96IW7

    1 Blocks protein domain: IPB001388 Synaptobrevin

    UniProtKB/Swiss-Prot: SC22A_HUMAN, Q96IW7
    Similarity: Belongs to the synaptobrevin family
    Similarity: Contains 1 longin domain


    SEC22A 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: SC22A_HUMAN, Q96IW7
    Function: May be involved in vesicle transport between the ER and the Golgi complex (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000149SNARE binding IBA--
    GO:0005215transporter activity TAS8621431
    GO:0005484SNAP receptor activity IBA--
         
    SEC22A for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SEC22A
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SEC22A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SEC22A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SEC22A

    miRNA
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    miRTarBase miRNAs that target SEC22A:
    hsa-mir-26b-5p (MIRT029213)

    Block miRNA regulation of human, mouse, rat SEC22A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SEC22A (see all 24):
    hsa-miR-30c hsa-miR-513a-5p hsa-miR-128 hsa-miR-30d hsa-miR-520a-5p hsa-miR-3133 hsa-miR-30a hsa-miR-1184
    SwitchGear 3'UTR luciferase reporter plasmidSEC22A 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SEC22A
    Predesigned siRNA for gene silencing in human, mouse, rat SEC22A

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for SEC22A

    Clone
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    OriGene clones in human, mouse for SEC22A (see all 7)
    OriGene ORF clones in mouse, rat for SEC22A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SEC22A (NM_012430)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SEC22A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEC22A

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for SEC22A
    Browse ESI BIO Cell Lines and PureStem Progenitors for SEC22A 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEC22A


    (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
    SC22A_HUMAN, Q96IW7: Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    extracellular2
    golgi apparatus2
    plasma membrane2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0031201SNARE complex IBA--

    SEC22A 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 SEC22A About    
    See pathways by source

    SuperPathContained pathways About
    1Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics
    Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics0.44


    1 PharmGKB Pathway for SEC22A
        Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SEC22A
    Interactions:

        Search GeneGlobe Interaction Network for SEC22A

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

    Selected Interacting proteins for SEC22A (Q96IW73 ENSP000003105214) via UniProtKB, MINT, STRING, and/or I2D (see all 105)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    USO1O607633, ENSP000004116984I2D: score=1 STRING: ENSP00000411698
    STX5Q131903, ENSP000002941794I2D: score=1 STRING: ENSP00000294179
    DTX2Q86UW93I2D: score=1 
    GOSR2ENSP000002255674STRING: ENSP00000225567
    YKT6ENSP000002233694STRING: ENSP00000223369
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0006887NOT exocytosis IBA--
    GO:0006888ER to Golgi vesicle-mediated transport IBA--
    GO:0015031protein transport IEA--
    GO:0048280vesicle fusion with Golgi apparatus IBA--

    SEC22A 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 SEC22A (SC22A)



    (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 SEC22A gene: 
    NM_012430.4  

    Unigene Cluster for SEC22A:

    SEC22 vesicle trafficking protein homolog A (S. cerevisiae)
    Hs.477361  [show with all ESTs]
    Unigene Representative Sequence: NM_012430
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000477063 ENST00000466950 ENST00000492595 ENST00000473494 ENST00000481965
    ENST00000466519 ENST00000480631 ENST00000491366 ENST00000487572 ENST00000309934(uc003ege.3 uc003egf.3)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SEC22A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SEC22A (see all 24):
    hsa-miR-30c hsa-miR-513a-5p hsa-miR-128 hsa-miR-30d hsa-miR-520a-5p hsa-miR-3133 hsa-miR-30a hsa-miR-1184
    SwitchGear 3'UTR luciferase reporter plasmidSEC22A 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SEC22A
    Predesigned siRNA for gene silencing in human, mouse, rat SEC22A
    Clone
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    OriGene clones in human, mouse for SEC22A (see all 7)
    OriGene ORF clones in mouse, rat for SEC22A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SEC22A (NM_012430)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SEC22A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEC22A
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SEC22A
    OriGene qSTAR qPCR primer pairs in human, mouse for SEC22A
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SEC22A
      QuantiTect SYBR Green Assays in human, mouse, rat SEC22A
      QuantiFast Probe-based Assays in human, mouse, rat SEC22A

    Additional mRNA sequence: 

    AF100749.1 AK057587.1 AK315771.1 BC007122.1 

    17 DOTS entries:

    DT.441363  DT.100672256  DT.410109  DT.100020694  DT.100746689  DT.415773  DT.91869435  DT.92414540 
    DT.95170950  DT.120879402  DT.120879412  DT.92424169  DT.100790068  DT.40239577  DT.40248204  DT.451716 
    DT.95256424 

    Selected AceView cDNA sequences (see all 129):

    AA421925 BM553223 BU164950 R19437 CR606488 BM832542 BC007122 BP378939 
    BX116818 BI520336 BP352320 R53145 BV207411 AA700691 AA705723 BG191654 
    AW994428 AI350461 AL550651 BF316652 AA780149 BI823224 BX474041 AA912904 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SEC22A (see all 10)    About this scheme

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


    ECgene alternative splicing isoforms for SEC22A

    (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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    SEC22A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGACTATCAT
    SEC22A Expression
    About this image

    SEC22A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SEC22A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.477361
        Custom PCR Arrays for SEC22A
    Primer
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    OriGene qPCR primer pairs and template standards for SEC22A
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SEC22A
    QuantiTect SYBR Green Assays in human, mouse, rat SEC22A
    QuantiFast Probe-based Assays in human, mouse, rat SEC22A
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEC22A

    (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 and fungi.

    Orthologs for SEC22A gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sec22a1 , 5 SEC22 vesicle trafficking protein homologe A (S. cerevisiae)5
    SEC22 vesicle trafficking protein homolog A (S. cerevisiae)1
    93.38(n)1
    96.74(a)1
      16 (25.21 cM)5
    3177171  NM_133704.41  NP_598465.21 
     353111315 
    chicken
    (Gallus gallus)
    Aves SEC22A1 SEC22 vesicle trafficking protein homolog A (S. cerevisiae) 81.22(n)
    86.64(a)
      424250  NM_001006526.1  NP_001006526.1 
    lizard
    (Anolis carolinensis)
    Reptilia SEC22A6
    SEC22 vesicle trafficking protein homolog A (S. ce...
    82(a)
    1 ↔ 1
    1(79578038-79599648)
    African clawed frog
    (Xenopus laevis)
    Amphibia CA972893.12   -- 76.53(n)    CA972893.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC049530.12   -- 72.16(n)   324832  BC049530.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sec226
    --
    26(a)
    1 → many
    X(700109-702233)
    worm
    (Caenorhabditis elegans)
    Secernentea sec-226
    Protein SEC-22 (sec-22) mRNA, complete cds
    27(a)
    1 → many
    X(1035548-1037067) WBGene00018853
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SEC22(YLR268W)4 R-SNARE protein; assembles into SNARE complex with more   --   12(680200-680844) 850973  NP_013370.1 


    ENSEMBL Gene Tree for SEC22A (if available)
    TreeFam Gene Tree for SEC22A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SEC22A gene
    SEC22C2  
    2 SIMAP similar genes for SEC22A using alignment to 8 protein entries:     SC22A_HUMAN (see all proteins):
    SEC22B    SEC22C

    SEC22A 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 SEC22A (see all 1542)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs786612261,2
    --122918928(+) TACTAA/TGTGAA 1 -- us2k10--------
    rs67802871,2
    C,F,A--122919006(+) ttcagC/Tggcat 1 -- us2k17Minor allele frequency- T:0.16NA WA CSA EA 250
    rs1503772771,2
    C--122919106(+) CCATG-/CCTGGC 1 -- us2k10--------
    rs1452732081,2
    --122919193(+) ATCCAA/CCCCCG 1 -- us2k10--------
    rs98676301,2
    C,F--122919223(+) ctgggG/Attaca 1 -- us2k14Minor allele frequency- A:0.50NA WA CSA 8
    rs1876461521,2
    --122919244(+) ATCGCA/GCCTGG 1 -- us2k10--------
    rs98502371,2
    C,F--122919272(+) ttattT/Catttc 1 -- us2k17Minor allele frequency- C:0.17NA WA CSA EA 366
    rs1437662331,2
    --122919322(+) AATACA/GTTTAT 1 -- us2k10--------
    rs1915782621,2
    --122919344(+) ATCTAA/GGACAA 1 -- us2k10--------
    rs613263911,2
    C,F--122919382(+) TGAACT/GCTAGA 1 -- us2k12Minor allele frequency- G:0.15WA 120

    HapMap Linkage Disequilibrium report for SEC22A (122920774 - 122992983 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for SEC22A:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv3976CNV Insertion18451855
    dgv297n21CNV Loss19592680
    nsv524614CNV Loss19592680
    nsv877395CNV Gain21882294
    nsv877394CNV Gain21882294
    esv275521CNV Gain+Loss21479260

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SEC22A
    DNA2.0 Custom Variant and Variant Library Synthesis for SEC22A

    (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: 612442    OMIM disorders: --

    1 disease for SEC22A:    
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    neuronitis


    SEC22A for disorders           About GeneDecksing

    Genetic Association Database (GAD): SEC22A
    Human Genome Epidemiology (HuGE) Navigator: SEC22A (1 document)

    Export disorders for SEC22A 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 SEC22A gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with SEC22A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2 Zhang Q.-H.... Chen Z. (Genome Res. 2000)
    5. Hsec22c: a homolog of yeast Sec22p and mammalian rsec22a and msec22b/ERS-24. (PubMed id 9501016)1, 3 Tang B.L.... Hong W. (Biochem. Biophys. Res. Commun. 1998)
    6. Protein interactions regulating vesicle transport between the endoplasmic reticulum and Golgi apparatus in mammalian cells. (PubMed id 9094723)1, 3 Hay J.C....Scheller R.H. (Cell 1997)
    7. 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)
    8. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    9. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
    10. The transport signal on Sec22 for packaging into COPII-coated vesicles is a conformational epitope. (PubMed id 17499046)1 Mancias J.D. and Goldberg J. (Mol. Cell 2007)

    (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: 26984 HGNC: 20260 AceView: SEC22L2 Ensembl:ENSG00000121542 euGenes: HUgn26984
    ECgene: SEC22A H-InvDB: SEC22A

    (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 SEC22A 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 SEC22A gene:
    Search GeneIP for patents involving SEC22A

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



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