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    TRAPPC2B trafficking protein particle complex subunit 2B [ Homo sapiens (human) ]

    Gene ID: 10597, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TRAPPC2Bprovided by HGNC
    Official Full Name
    trafficking protein particle complex subunit 2Bprovided by HGNC
    Primary source
    HGNC:HGNC:10710
    See related
    Ensembl:ENSG00000256060 MIM:620472; AllianceGenome:HGNC:10710
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MIP2A; SEDLP; MIP-2A; SEDLP1; TRAPPC2P1
    Summary
    Enables transcription corepressor binding activity; transcription regulator inhibitor activity; and transmembrane transporter binding activity. Involved in positive regulation of gene expression and skeletal system development. Located in endoplasmic reticulum; nucleus; and perinuclear region of cytoplasm. Part of TRAPP complex. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in testis (RPKM 7.7), adrenal (RPKM 7.1) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See TRAPPC2B in Genome Data Viewer
    Location:
    19q13.43
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (57363551..57365405)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (60460581..60462438)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (57874919..57876773)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15132 Neighboring gene zinc finger protein 543 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:57861815-57862674 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:57862675-57863533 Neighboring gene zinc finger protein 304 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15135 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15136 Neighboring gene zinc finger protein 547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15137 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15138 Neighboring gene zinc finger protein 548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:57915187-57915686 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15139 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15140 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15141 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:57923026-57923228 Neighboring gene zinc finger protein 17

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Membrane traffic fuses with cartilage development. Sacher M. FEBS Lett, 2003 Aug 28. PMID 12935876
    2. MIP-2A is a novel target of an anilinoquinazoline derivative for inhibition of tumour cell proliferation. Tokunaga M, et al. PLoS One, 2013. PMID 24098805, Free PMC Article
    3. Modulation of human luteinizing hormone beta gene transcription by MIP-2A. Ghosh AK, et al. J Biol Chem, 2003 Jun 27. PMID 12700240
    4. Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400). Savarirayan R, et al. Eur J Hum Genet, 2003 Sep. PMID 12939648
    5. Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. Gedeon AK, et al. Nat Genet, 1999 Aug. PMID 10431248

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription corepressor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription regulator inhibitor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in COPII vesicle coating NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endoplasmic reticulum to Golgi vesicle-mediated transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in vesicle coating NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in vesicle tethering NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of TRAPP complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of TRAPPII protein complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of TRAPPIII protein complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  
    located_in endoplasmic reticulum-Golgi intermediate compartment IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear outer membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    trafficking protein particle complex subunit 2B
    Names
    MBP-1 interacting protein-2A
    spondyloepiphyseal dysplasia, late, pseudogene
    trafficking protein particle complex 2 pseudogene 1
    trafficking protein particle complex 2B

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001355204.2 → NP_001342133.1  trafficking protein particle complex subunit 2B

      Status: VALIDATED

      Source sequence(s)
      AF058918, BU556832
      Consensus CDS
      CCDS86812.1
      UniProtKB/Swiss-Prot
      A6NEG0, O14582, P0DI81, P0DI82, Q9HD16
      UniProtKB/TrEMBL
      Q6IBE5
      Related
      ENSP00000442778.1, ENST00000543226.2
      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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      57363551..57365405
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      60460581..60462438
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_015890.2: Suppressed sequence

      Description
      NM_015890.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0DI82.1 GenPept UniProtKB/Swiss-Prot:P0DI82

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Molecular Biology Databases
    Research Materials