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    Trappc2 trafficking protein particle complex 2 [ Mus musculus (house mouse) ]

    Gene ID: 66226, updated on 4-May-2024

    Summary

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    Official Symbol
    Trappc2provided by MGI
    Official Full Name
    trafficking protein particle complex 2provided by MGI
    Primary source
    MGI:MGI:1913476
    See related
    Ensembl:ENSMUSG00000079317 AllianceGenome:MGI:1913476
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Sedl; TRS20; MIP-2A; 1110066L09Rik; 1810064C02Rik
    Summary
    Predicted to enable transmembrane transporter binding activity. Predicted to be involved in endoplasmic reticulum to Golgi vesicle-mediated transport; regulation of transcription, DNA-templated; and skeletal system development. Part of TRAPP complex. Is expressed in several structures, including eye; genitourinary system; gut; hemolymphoid system; and nervous system. Human ortholog(s) of this gene implicated in X-linked spondyloepiphyseal dysplasia tarda. Orthologous to human TRAPPC2 (trafficking protein particle complex subunit 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in cerebellum adult (RPKM 12.9), cortex adult (RPKM 11.5) and 18 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Trappc2 in Genome Data Viewer
    Location:
    X F5; X 77.43 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (165223747..165236136)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (166440702..166453140)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene gem nuclear organelle associated protein 8 Neighboring gene STARR-seq mESC enhancer starr_48252 Neighboring gene glycoprotein m6b Neighboring gene OFD1, centriole and centriolar satellite protein Neighboring gene STARR-positive B cell enhancer ABC_E11806 Neighboring gene CapStarr-seq enhancer MGSCv37_chrX:162917789-162917898 Neighboring gene RAB9, member RAS oncogene family Neighboring gene family with sequence similarity 154, member A pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Biochemical consequences of sedlin mutations that cause spondyloepiphyseal dysplasia tarda. Choi MY, et al. Biochem J, 2009 Sep 25. PMID 19650763
    2. The adaptor function of TRAPPC2 in mammalian TRAPPs explains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability. Zong M, et al. PLoS One, 2011. PMID 21858081, Free PMC Article
    3. Crystal structure of SEDL and its implications for a genetic disease spondyloepiphyseal dysplasia tarda. Jang SB, et al. J Biol Chem, 2002 Dec 20. PMID 12361953
    4. A yeast two hybrid screen identifies SPATA4 as a TRAPP interactor. Duarte DT, et al. FEBS Lett, 2011 Sep 2. PMID 21827752
    5. mBET3 is required for the organization of the TRAPP complexes. Menon S, et al. Biochem Biophys Res Commun, 2006 Nov 24. PMID 17027922

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The sedlin mutations S73L, F83S and V130D cause SEDT by sedlin misfolding, whereas the D47Y mutation may influence normal TRAPP (transport protein particle) dynamics.
      Title: Biochemical consequences of sedlin mutations that cause spondyloepiphyseal dysplasia tarda.
    2. x-ray crystallography analysis of mouse SEDL
      Title: Crystal structure of SEDL and its implications for a genetic disease spondyloepiphyseal dysplasia tarda.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (2) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC118266

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transmembrane transporter binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    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 skeletal system development ISO
    Inferred from Sequence Orthology
    more info
    		  
    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 TRAPP complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of TRAPP complex ISO
    Inferred from Sequence Orthology
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    trafficking protein particle complex subunit 2
    Names
    sedlin
    spondyloepiphyseal dysplasia tarda protein
    spondyloepiphyseal dysplasia, late

    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_001313722.1 → NP_001300651.1  trafficking protein particle complex subunit 2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice junction and lacks an alternate 3' coding exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK002658, AK007951, BC099551
      Consensus CDS
      CCDS85828.1
      UniProtKB/TrEMBL
      A2AFP1
      Related
      ENSMUSP00000107811.2, ENSMUST00000112192.8
      Conserved Domains (1) summary
      cl21566
      Location:9 → 69
      Sedlin_N; Sedlin, N-terminal conserved region

    2. NM_025432.4 → NP_079708.2  trafficking protein particle complex subunit 2 isoform 1

      See identical proteins and their annotated locations for NP_079708.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK002658, BC099551
      Consensus CDS
      CCDS41208.1
      UniProtKB/Swiss-Prot
      Q8BP61, Q9CQF5, Q9CQP2, Q9D0V3, Q9DCM3
      UniProtKB/TrEMBL
      Q5J9A9
      Related
      ENSMUSP00000112195.2, ENSMUST00000116495.8
      Conserved Domains (1) summary
      cd14825
      Location:4 → 138
      TRAPPC2_sedlin; Trafficking protein particle complex subunit 2

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      165223747..165236136
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_003953020.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9CQP2.1 GenPept UniProtKB/Swiss-Prot:Q9CQP2

    Gene LinkOut

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

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