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    TRAPPC2 trafficking protein particle complex subunit 2 [ Homo sapiens (human) ]

    Gene ID: 6399, updated on 4-Jan-2025

    Summary

    Official Symbol
    TRAPPC2provided by HGNC
    Official Full Name
    trafficking protein particle complex subunit 2provided by HGNC
    Primary source
    HGNC:HGNC:23068
    See related
    Ensembl:ENSG00000196459 MIM:300202; AllianceGenome:HGNC:23068
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SEDL; SEDT; MIP2A; TRS20; ZNF547L; hYP38334; TRAPPC2P1
    Summary
    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]
    Expression
    Ubiquitous expression in lymph node (RPKM 4.2), brain (RPKM 3.5) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TRAPPC2 in Genome Data Viewer
    Location:
    Xp22.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (13712245..13734620, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (13293643..13316052, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (13730364..13752739, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985656 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:13687079-13688278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29444 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20667 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20668 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:13710181-13710377 Neighboring gene RAB9A, member RAS oncogene family Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:13752241-13753440 Neighboring gene OFD1 centriole and centriolar satellite protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20669 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29445 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:13778869-13779368 Neighboring gene NANOG hESC enhancer GRCh37_chrX:13820205-13820738 Neighboring gene glycoprotein M6B Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:13845691-13846890 Neighboring gene gem nuclear organelle associated protein 8 Neighboring gene H3K27ac hESC enhancers GRCh37_chrX:14047600-14048100 and GRCh37_chrX:14048101-14048601

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (320 hits/857 screens)

    Associated conditions

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2014-01-16)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2014-01-16)

    ClinGen Genome Curation PagePubMed

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    part_of TRAPP complex  
    part_of TRAPP complex PubMed 
    part_of TRAPPII protein complex PubMed 
    part_of TRAPPIII protein complex PubMed 
    is_active_in cytoplasm  
    located_in cytoplasm PubMed 
    located_in cytosol  
    located_in endoplasmic reticulum  
    located_in endoplasmic reticulum-Golgi intermediate compartment  
    located_in intracellular membrane-bounded organelle  
    located_in nucleoplasm  
    is_active_in nucleus  
    located_in nucleus PubMed 
    located_in perinuclear region of cytoplasm PubMed 

    General protein information

    Preferred Names
    trafficking protein particle complex subunit 2
    Names
    sedlin
    trafficking protein particle complex 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011555.1 RefSeqGene

      Range
      5004..27379
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001011658.4 → NP_001011658.1  trafficking protein particle complex subunit 2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the shorter isoform (1). Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AA770629, AC003037, AK313736, DA344866
      Consensus CDS
      CCDS48082.1
      UniProtKB/Swiss-Prot
      A6NEG0, O14582, P0DI81, P0DI82, Q9HD16
      UniProtKB/TrEMBL
      Q6IBE5
      Related
      ENSP00000369953.1, ENST00000380579.6
      Conserved Domains (1) summary
      cd14825
      Location:4 → 138
      TRAPPC2_sedlin; Trafficking protein particle complex subunit 2
    2. NM_001128835.3 → NP_001122307.2  trafficking protein particle complex subunit 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate start codon and includes an alternate splice site in its 5' coding region, compared to variant 1. The encoded isoform (2) has a distinct and longer N-terminus, compared to isoform 1.
      Source sequence(s)
      AA770629, AC003037, DA344866, DA542477
      Consensus CDS
      CCDS48083.2
      UniProtKB/Swiss-Prot
      P0DI81
      Related
      ENSP00000507474.1, ENST00000683983.1
      Conserved Domains (1) summary
      cd14825
      Location:38 → 172
      TRAPPC2_sedlin; Trafficking protein particle complex subunit 2
    3. NM_014563.6 → NP_055378.1  trafficking protein particle complex subunit 2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AA770629, AC003037, BC052618, DA344866
      Consensus CDS
      CCDS48082.1
      UniProtKB/Swiss-Prot
      A6NEG0, O14582, P0DI81, P0DI82, Q9HD16
      UniProtKB/TrEMBL
      Q6IBE5
      Related
      ENSP00000352708.5, ENST00000359680.9
      Conserved Domains (1) summary
      cd14825
      Location:4 → 138
      TRAPPC2_sedlin; Trafficking protein particle complex subunit 2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      13712245..13734620 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545566.3 → XP_011543868.1  trafficking protein particle complex subunit 2 isoform X1

      UniProtKB/Swiss-Prot
      A6NEG0, O14582, P0DI81, P0DI82, Q9HD16
      UniProtKB/TrEMBL
      Q6IBE5
      Related
      ENSP00000392495.3, ENST00000458511.7
      Conserved Domains (1) summary
      cd14825
      Location:4 → 138
      TRAPPC2_sedlin; Trafficking protein particle complex subunit 2
    2. XM_047442351.1 → XP_047298307.1  trafficking protein particle complex subunit 2 isoform X1

      UniProtKB/Swiss-Prot
      A6NEG0, O14582, P0DI81, P0DI82, Q9HD16
      UniProtKB/TrEMBL
      Q6IBE5
    3. XM_047442352.1 → XP_047298308.1  trafficking protein particle complex subunit 2 isoform X1

      UniProtKB/Swiss-Prot
      A6NEG0, O14582, P0DI81, P0DI82, Q9HD16
      UniProtKB/TrEMBL
      Q6IBE5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      13293643..13316052 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327565.1 → XP_054183540.1  trafficking protein particle complex subunit 2 isoform X1

      UniProtKB/Swiss-Prot
      A6NEG0, O14582, P0DI81, P0DI82, Q9HD16
      UniProtKB/TrEMBL
      Q6IBE5
    2. XM_054327564.1 → XP_054183539.1  trafficking protein particle complex subunit 2 isoform X1

      UniProtKB/Swiss-Prot
      A6NEG0, O14582, P0DI81, P0DI82, Q9HD16
      UniProtKB/TrEMBL
      Q6IBE5
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