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

Gene ID: 66226, updated on 2-Nov-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 transcription corepressor binding activity and transmembrane transporter binding activity. Predicted to be involved in endoplasmic reticulum to Golgi vesicle-mediated transport; positive regulation of gene expression; 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, Nov 2024]
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 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. 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
  3. 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
  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 (23) 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 transcription corepressor binding ISS
Inferred from Sequence or Structural Similarity
more info
  
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 positive regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
  
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 endoplasmic reticulum-Golgi intermediate compartment IEA
Inferred from Electronic Annotation
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 nucleus ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
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

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