Tmed2 transmembrane p24 trafficking protein 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tmed2provided by MGI
Official Full Name: transmembrane p24 trafficking protein 2provided by MGI
Primary source: MGI:MGI:1929269
See related: Ensembl:ENSMUSG00000029390 AllianceGenome:MGI:1929269
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: Rnp24; Sid394; p24beta1; 1110032D12Rik; 1810020N21Rik
Summary: Involved in embryonic morphogenesis; labyrinthine layer blood vessel development; and maternal placenta development. Acts upstream of or within several processes, including PERK-mediated unfolded protein response; chordate embryonic development; and regulation of gene expression. Located in endoplasmic reticulum membrane and endoplasmic reticulum-Golgi intermediate compartment. Is expressed in several structures, including cardiovascular system; early conceptus; embryo ectoderm; placenta; and trunk mesenchyme. Orthologous to human TMED2 (transmembrane p24 trafficking protein 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in placenta adult (RPKM 136.3), ovary adult (RPKM 134.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 F; 5 63.65 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (124678835..124688566)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (124540791..124550503)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TMED2 binding restricts SMO to the ER and Golgi compartments.
Title: TMED2 binding restricts SMO to the ER and Golgi compartments.
Histological and molecular analysis of livers from heterozygous mice carrying the 99J mutation, Tmed299J/+, revealed a requirement for TMED2 in liver health. The study shows that Tmed299J/+ mice had decreased levels of TMED2 and TMED10, dilated endoplasmic reticulum membrane, and increased phosphorylation of eIF2alpha, indicating endoplasmic reticulum - stress.
Title: Non-alcoholic fatty liver disease in mice with heterozygous mutation in TMED2.
Tmed2, which has never been reported yet in cell proliferation, was verified to be able to enhance MC3T3-E1 cell proliferation when over-expressed
Title: Discovery of novel cell proliferation-enhancing gene by random siRNA library based combinatorial screening.
Study finds that Tmed2/p24beta(1) is normally expressed in tissues showing morphological defects in 99J mutant embryos and that these affected tissues lack the TMED2/p24beta(1) oligomerization partners, TMED7/p24gamma(3) and TMED10/p24delta(1).
Title: The trafficking protein Tmed2/p24beta(1) is required for morphogenesis of the mouse embryo and placenta.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Gene trapped (1)
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Tmed2 (e-PCR), detects polymorphism
- UniSTS:531462

RH124557 (e-PCR)
- UniSTS:161379

RH125644 (e-PCR)
- UniSTS:162432

Tmed2 (e-PCR), detects polymorphism
- UniSTS:531432

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables cargo receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables frizzled binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables smoothened binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Golgi organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in Golgi organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within PERK-mediated unfolded protein response	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within allantois development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within branching involved in labyrinthine layer morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within chorion development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic placenta development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endoplasmic reticulum membrane organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endoplasmic reticulum organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within heart looping	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular protein transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular protein transport	ISO Inferred from Sequence Orthology more info
involved_in labyrinthine layer blood vessel development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within maintenance of protein localization in organelle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in maternal placenta development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of GTPase activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of protein localization to plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neural tube closure	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of protein homodimerization activity	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within post-anal tail morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to plasma membrane	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein secretion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of SREBP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within somite rostral/caudal axis specification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within somitogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within vesicle-mediated transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in COPI-coated vesicle	ISO Inferred from Sequence Orthology more info
is_active_in COPII-coated ER to Golgi transport vesicle	IBA Inferred from Biological aspect of Ancestor more info
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum-Golgi intermediate compartment	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum-Golgi intermediate compartment	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum-Golgi intermediate compartment	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in zymogen granule membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: transmembrane emp24 domain-containing protein 2

Names: COPI-coated vesicle membrane protein p24; Sid394p; coated vesicle membrane protein; membrane protein p24A; p24 family protein beta-1; sid 394; transmembrane emp24 domain trafficking protein 2

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_001403253.1 → NP_001390182.1 transmembrane emp24 domain-containing protein 2 isoform 1 precursor

Status: VALIDATED

Source sequence(s)

AC127313
NM_001403257.1 → NP_001390186.1 transmembrane emp24 domain-containing protein 2 isoform 3

Status: VALIDATED

Source sequence(s)

AC127313

Related

ENSMUSP00000120809.2, ENSMUST00000135464.2
NM_019770.3 → NP_062744.1 transmembrane emp24 domain-containing protein 2 isoform 2 precursor

See identical proteins and their annotated locations for NP_062744.1

Status: VALIDATED

Source sequence(s)

AC127313

Consensus CDS

CCDS19679.1

UniProtKB/Swiss-Prot

Q9R0Q3

UniProtKB/TrEMBL

A2RS53

Related

ENSMUSP00000054834.5, ENSMUST00000060226.11

Conserved Domains (1) summary

pfam01105
Location:20 → 196

EMP24_GP25L; emp24/gp25L/p24 family/GOLD