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

Summary

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

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_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation 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)

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
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