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TRAPPC2 Gene

protein-coding   GIFtS: 51
GCID: GC0XM013640

Trafficking Protein Particle Complex 2

(Previous names: spondyloepiphyseal dysplasia, late)
(Previous symbol: SEDL)
  See TRAPPC2-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
Trafficking Protein Particle Complex 21 2     TRS202
SEDL1 2 3 5     ZNF547L2
SEDT2 5     hYP383342
Spondyloepiphyseal Dysplasia, Late1     sedlin2
MIP2A2     Trafficking Protein Particle Complex Subunit 22
TRAPPC2P12     Sedlin3

External Ids:    HGNC: 230681   Entrez Gene: 63992   Ensembl: ENSG000001964597   OMIM: 3002025   UniProtKB: P0DI813   

Export aliases for TRAPPC2 gene to outside databases

Previous GC identifers: GC00U913615 GC0XM013492


(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 TRAPPC2 Gene:
The protein encoded by this gene is thought to be part of a large multi-subunit complex involved in the targeting
and fusion of endoplasmic reticulum-to-Golgi transport vesicles with their acceptor compartment. In addition, the
encoded protein can bind c-myc promoter-binding protein 1 and block its transcriptional repression capability.
Mutations in this gene are a cause of spondyloepiphyseal dysplasia tarda (SEDT). A processed pseudogene of this
gene is located on chromosome 19, and other pseudogenes are found on chromosomes 8 and Y. Alternatively spliced
transcript variants have been found for this gene. (provided by RefSeq, Mar 2010)

GeneCards Summary for TRAPPC2 Gene:
TRAPPC2 (trafficking protein particle complex 2) is a protein-coding gene. Diseases associated with TRAPPC2 include x-linked spondyloepiphyseal dysplasia tarda, and osteochondrodysplasia. GO annotations related to this gene include ion channel binding and transcription factor binding. An important paralog of this gene is TRAPPC2P1.

UniProtKB/Swiss-Prot: TPC2A_HUMAN, P0DI81
Function: Prevents transcriptional repression and induction of cell death by ENO1 (By similarity). May play a role
in vesicular transport from endoplasmic reticulum to Golgi

Gene Wiki entry for TRAPPC2 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 at NCBI GenBank:
NC_000023.10  NC_018934.2  NT_167197.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TRAPPC2 gene promoter:
         TBP   GR   Lmo2   Evi-1   FOXL1   MEF-2A   TFIID   GR-alpha   aMEF-2   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTRAPPC2 promoter sequence
   Search Chromatin IP Primers for TRAPPC2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TRAPPC2


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

Entrez Gene cytogenetic band: Xp22   Ensembl cytogenetic band:  Xp22.2   HGNC cytogenetic band: Xp22

TRAPPC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TRAPPC2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM013640:  view genomic region     (about GC identifiers)

Start:
13,730,361 bp from pter      End:
13,752,754 bp from pter
Size:
22,394 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: TPC2A_HUMAN, P0DI81 (See protein sequence)
Recommended Name: Trafficking protein particle complex subunit 2  
Size: 140 amino acids; 16445 Da
Subunit: Can homodimerize. Component of the multisubunit TRAPP (transport protein particle) complex, which
includes TRAPPC2, TRAPPC2L, TRAPPC3, TRAPPC3L, TRAPPC4, TRAPPC5, TRAPPC8, TRAPPC9, TRAPPC10, TRAPPC11 and
TRAPPC12. Interacts with ENO1, PITX1 and SF1
Miscellaneous: A paralogous gene encoding an identical protein appears to have arisen by retrotransposition of a
cDNA from this locus and to have acquired a promoter and non-coding 5' UTR from the ZNF547 gene
Secondary accessions: A6NEG0 O14582 Q9HD16
Alternative splicing: 3 isoforms:  P0DI81-1, O14582-1   P0DI81-2, O14582-2   P0DI81-3   

Explore the universe of human proteins at neXtProt for TRAPPC2: NX_P0DI81

Explore proteomics data for TRAPPC2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TRAPPC2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001011658.1  NP_001122307.2  NP_055378.1  

    ENSEMBL proteins: 
     ENSP00000369953   ENSP00000392495   ENSP00000430725   ENSP00000428900   ENSP00000394629  
     ENSP00000352708   ENSP00000350966  

    TRAPPC2 Human Recombinant Protein Products:

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    antibodies-online proteins for TRAPPC2 (9 products) 

     
    antibodies-online peptides for TRAPPC2

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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:
    TRAPPC: Trafficking protein particle complex

    2 InterPro protein domains:
     IPR006722 Sedlin
     IPR011012 Longin-like_dom

    Graphical View of Domain Structure for InterPro Entry P0DI81

    ProtoNet protein and cluster: P0DI81

    UniProtKB/Swiss-Prot: TPC2A_HUMAN, P0DI81
    Similarity: Belongs to the TRAPP small subunits family. Sedlin subfamily


    Find genes that share domains with TRAPPC2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TPC2A_HUMAN, P0DI81
    Function: Prevents transcriptional repression and induction of cell death by ENO1 (By similarity). May play a role
    in vesicular transport from endoplasmic reticulum to Golgi

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11134351
    GO:0008134transcription factor binding IPI11134351
    GO:0044325ion channel binding IPI12681486
         
    Find genes that share ontologies with TRAPPC2           About GenesLikeMe


    Phenotypes:
         1 MGI phenotypic allele for Trappc2 (no phenotypes)

    Find genes that share phenotypes with TRAPPC2           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for TRAPPC2

    miRNA
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    miRTarBase miRNAs that target TRAPPC2:
    hsa-mir-25-3p (MIRT050252), hsa-mir-92a-3p (MIRT049775), hsa-mir-21-5p (MIRT030856)

    Block miRNA regulation of human, mouse, rat TRAPPC2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TRAPPC2 (see all 29):
    hsa-miR-1178 hsa-miR-302d hsa-miR-520e hsa-miR-200a hsa-miR-3653 hsa-miR-302e hsa-miR-340 hsa-miR-373*
    SwitchGear 3'UTR luciferase reporter plasmidTRAPPC2 3' UTR sequence
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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
    TPC2A_HUMAN, P0DI81: Cytoplasm, perinuclear region. Endoplasmic reticulum. Golgi apparatus. Nucleus.
    Note=Localized in perinuclear granular structures
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus5
    cytosol2
    nucleus2
    cytoskeleton1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IEA--
    GO:0005783endoplasmic reticulum IEA--
    GO:0005794Golgi apparatus IEA--
    GO:0005801cis-Golgi network ----

    Find genes that share ontologies with TRAPPC2           About GenesLikeMe


    (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 TRAPPC2
    Interactions:

        Search GeneGlobe Interaction Network for TRAPPC2

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

    Selected Interacting proteins for TRAPPC2 (P0DI813 ENSP000003527084) via UniProtKB, MINT, STRING, and/or I2D (see all 72)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRAPPC5Q8IUR03, ENSP000003169904I2D: score=5 STRING: ENSP00000316990
    RUVBL2Q9Y2303, ENSP000002214134I2D: score=4 STRING: ENSP00000221413
    ARL1P406163, ENSP000002616364I2D: score=1 STRING: ENSP00000261636
    CLCN4P517933, ENSP000003702134I2D: score=1 STRING: ENSP00000370213
    TRAPPC4Q9Y2963, ENSP000003518964I2D: score=1 STRING: ENSP00000351896
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development IMP10431248
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IDA11134351
    GO:0006810transport ----
    GO:0006888ER to Golgi vesicle-mediated transport NAS10431248

    Find genes that share ontologies with TRAPPC2           About GenesLikeMe



    (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 TRAPPC2 (TPC2A)

    1 DrugBank Compound for TRAPPC2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    S-PALMITOYL-L-CYSTEINE-- --target--10592235



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TRAPPC2 gene (3 alternative transcripts): 
    NM_001011658.3  NM_001128835.2  NM_014563.5  

    Unigene Cluster for TRAPPC2:

    Trafficking protein particle complex 2
    Hs.592238  [show with all ESTs]
    Unigene Representative Sequence: NM_001011658
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380579 ENST00000458511 ENST00000380578 ENST00000519382(uc010nem.2)
    ENST00000517553 ENST00000519885 ENST00000518847 ENST00000453655(uc010nej.2 uc022btf.1)
    ENST00000359680(uc022btg.1) ENST00000358231
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    Selected qRT-PCR Assays for microRNAs that regulate TRAPPC2 (see all 29):
    hsa-miR-1178 hsa-miR-302d hsa-miR-520e hsa-miR-200a hsa-miR-3653 hsa-miR-302e hsa-miR-340 hsa-miR-373*
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      QuantiTect SYBR Green Assays in human, mouse, rat TRAPPC2
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    Additional mRNA sequence: 

    AK055671.1 AK313736.1 BC016915.1 BC052618.1 

    9 DOTS entries:

    DT.100747344  DT.213518  DT.40283179  DT.95143704  DT.121307201  DT.92428765  DT.40132262  DT.40244361 
    DT.40244871 

    Selected AceView cDNA sequences (see all 87):

    AI383594 BM675644 AI088621 AI721124 AA405587 NM_014563 AI033300 AA721254 
    AI269299 AW772650 AI953216 BX112362 AA688284 AA770629 AI131208 AA029595 
    AK055671 AA923494 BQ928870 AI278302 AI589814 AK098253 AI371821 CA313248 

    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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    TRAPPC2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTATAAAAT
    TRAPPC2 Expression
    About this image

    TRAPPC2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TRAPPC2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.592238

    UniProtKB/Swiss-Prot: TPC2A_HUMAN, P0DI81
    Tissue specificity: Expressed in brain, heart, kidney, liver, lung, pancreas, placenta, skeletal muscle, fetal
    cartilage, fibroblasts, placenta and lymphocytes

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    (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 TRAPPC2 gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Trappc21 , 5 trafficking protein particle complex 21, 5 90.71(n)1
    97.86(a)1
      X (77.43 cM)5
    662261  NM_025432.31  NP_079708.21 
     1664405745 
    chicken
    (Gallus gallus)
    Aves TRAPPC21 trafficking protein particle complex 2 83.33(n)
    95.71(a)
      418634  NM_001006263.1  NP_001006263.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    96(a)
    90(a)
    many ↔ many
    many ↔ many
    3(120465834-120470547)
    GL343610.1(164247-164669)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.185432 Xenopus laevis transcribed sequence with moderate similarity more 79.74(n)    BJ622945.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.164862 Transcribed sequence with strong similarity to protein more 78.16(n)    57094824 
    fruit fly
    (Drosophila melanogaster)
    Insecta l(3)72Dh1 lethal (3) 72Dh 62.08(n)
    57.97(a)
      39769  NM_140584.2  NP_648841.1 
    worm
    (Caenorhabditis elegans)
    Secernentea sedl-11 sedl-1 56.13(n)
    55.88(a)
      180478  NM_075871.5  NP_508272.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TRS20(YBR254C)4
    TRS201
    One of 10 subunits of the transport protein particle more4
    TRS201
    50.13(n)1
    42.86(a)1
      2(724263-723736)4
    8525561, 4  NP_009813.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G805001 AT1G80500 59.26(n)
    51.11(a)
      844389  NM_106698.3  NP_178165.2 
    rice
    (Oryza sativa)
    Liliopsida Os02g06136001 Os02g0613600 59.01(n)
    51.11(a)
      4329971  NM_001053955.1  NP_001047420.1 


    ENSEMBL Gene Tree for TRAPPC2 (if available)
    TreeFam Gene Tree for TRAPPC2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TRAPPC2 gene
    TRAPPC2P12  
    1 SIMAP similar gene for TRAPPC2 using alignment to 5 protein entries:     TPC2A_HUMAN (see all proteins):
    TRAPPC2P1

    Find genes that share paralogs with TRAPPC2           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for TRAPPC2 (see all 8)
    PGOHUM00000257191 PGOHUM00000262152 PGOHUM00000233777 PGOHUM00000233830 PGOHUM00000233835


    (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 TRAPPC2 (see all 316)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0123604
    Spondyloepiphyseal dysplasia tarda (SEDT)4--see VAR_0123602 V D mis40--------
    VAR_0123614
    Spondyloepiphyseal dysplasia tarda (SEDT)4--see VAR_0123612 F S mis40--------
    VAR_0123594
    Spondyloepiphyseal dysplasia tarda (SEDT)4--see VAR_0123592 S L mis40--------
    VAR_0123584
    Spondyloepiphyseal dysplasia tarda (SEDT)4--see VAR_0123582 D Y mis40--------
    rs1048949491,2
    Cpathogenic113648166(-) GTTTTA/CAATGA 6 * S stg10--------
    rs1048949481,2
    Cpathogenic113649745(-) GAGGTC/TTATTA 6 S F mis10--------
    rs734511251,2
    C,F--13645446(+) CAATGC/TTCCAC 3 -- ds50011Minor allele frequency- T:0.50WA 2
    rs1835351271,2
    --13645869(+) AGGACA/GAAAGC 3 -- ds50010--------
    rs1999244031,2
    C--13645962(+) AATTT-/CACACAC 3 -- ut310--------
    rs10589071,2
    C--13646014(-) CCATTC/TTGAGT 3 -- ut31 ese31Minor allele frequency- T:0.00NA 2

    HapMap Linkage Disequilibrium report for TRAPPC2 (13730361 - 13752754 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for TRAPPC2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv528634CNV Gain19592680

    Human Gene Mutation Database (HGMD): TRAPPC2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TRAPPC2
    DNA2.0 Custom Variant and Variant Library Synthesis for TRAPPC2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300202   
    OMIM disorders: 313400  
    UniProtKB/Swiss-Prot: TPC2A_HUMAN, P0DI81
  • Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400]: X-linked recessive disorder of endochondral bone
    formation. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 3 diseases for TRAPPC2:    
    About MalaCards
    x-linked spondyloepiphyseal dysplasia tarda    osteochondrodysplasia    leber hereditary optic neuropathy


    Find genes that share disorders with TRAPPC2           About GenesLikeMe

    4 Novoseek inferred disease relationships for TRAPPC2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    spondyloepiphyseal dysplasia tarda, x-linked 99.1 12 19002213 (2), 11252002 (1), 18393234 (1), 19766614 (1) (see all 9)
    osteochondrodysplasias 81.7 2 11443194 (1), 10431248 (1)
    skeletal disorder 76.5 1 12361953 (1)
    spondyloepiphyseal dysplasia 76.3 2 11424925 (1), 15316971 (1)

    GeneTests: TRAPPC2
    GeneReviews: TRAPPC2

    Export disorders for TRAPPC2 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 TRAPPC2 gene, integrated from 10 sources (see all 58):
    (articles sorted by number of sources associating them with TRAPPC2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not. (PubMed id 14597397)1, 2, 3 Gecz J.... de Barros Lopes M. (Gene 2003)
    2. Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. (PubMed id 10431248)1, 2, 9 Gedeon A.K.... Gecz J. (Nat. Genet. 1999)
    3. A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree. (PubMed id 11424925)1, 2, 9 Grunebaum E....Roifman C.M. (J. Med. Genet. 2001)
    4. C4orf41 and TTC-15 are mammalian TRAPP components with a role at an early stage in ER-to-Golgi trafficking. (PubMed id 21525244)1, 2 Scrivens P.J.... Sacher M. (Mol. Biol. Cell 2011)
    5. SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1. (PubMed id 20498720)1, 2 Jeyabalan J....Thakker R.V. (PLoS ONE 2010)
    6. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. 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)
    9. Functional organization of the yeast proteome by systematic analysis of protein complexes. (PubMed id 11805826)1, 2 Gavin A.-C....Superti-Furga G. (Nature 2002)
    10. The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. (PubMed id 11349230)1, 2 Gedeon A.K....Mulley J.C. (Am. J. Hum. Genet. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 6399 HGNC: 23068 AceView: SEDL Ensembl:ENSG00000196459 euGenes: HUgn6399
    ECgene: TRAPPC2 H-InvDB: TRAPPC2

    (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 TRAPPC2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TRAPPC2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TRAPPC2 gene:
    Search GeneIP for patents involving TRAPPC2

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



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