TMED2 transmembrane p24 trafficking protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TMED2provided by HGNC
Official Full Name: transmembrane p24 trafficking protein 2provided by HGNC
Primary source: HGNC:HGNC:16996
See related: Ensembl:ENSG00000086598
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: p24; P24A; RNP24; p24b1; p24beta1
Expression: Ubiquitous expression in thyroid (RPKM 170.2), colon (RPKM 110.3) and 25 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 12q24.31

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
109.20200522	current	GRCh38.p13 (GCF_000001405.39)	12	NC_000012.12 (123584552..123598582)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (124069076..124082688)

Chromosome 12 - NC_000012.12 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: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TMED2 associates with MITA only upon viral stimulation, and this process potentiates MITA activation by reinforcing its dimerization and facilitating its trafficking.
Title: TMED2 Potentiates Cellular IFN Responses to DNA Viruses by Reinforcing MITA Dimerization and Facilitating Its Trafficking.
Surface plasmon resonance and solution NMR analyses revealed that p24beta1 and p24delta1 GOLD domains interact weakly (Kd= ~10(-4)M).
Title: 3D Structure and Interaction of p24β and p24δ Golgi Dynamics Domains: Implication for p24 Complex Formation and Cargo Transport.
TMED2/p24beta1 is expressed in all gestational stages of human placentas and in choriocarcinoma cell lines.
Title: TMED2/p24β1 is expressed in all gestational stages of human placentas and in choriocarcinoma cell lines.
Both p24A transmembrane protein and p23 are specific cargo receptors of G protein-coupled receptors (GPCR) and differentially regulate GPCR signaling in astrocytes.
Title: Proteinase-activated receptors, nucleotide P2Y receptors, and μ-opioid receptor-1B are under the control of the type I transmembrane proteins p23 and p24A in post-Golgi trafficking.
These results suggest that p24A is the limiting factor in CaSR trafficking in the early secretory pathway, and that cycling between the ER and ERGIC protects CaSR from degradation.
Title: The cargo receptor p24A facilitates calcium sensing receptor maturation and stabilization in the early secretory pathway.
p24A is a regulator of signal-dependent trafficking that controls ARF1-dependent resensitization of PAR-2
Title: p24A, a type I transmembrane protein, controls ARF1-dependent resensitization of protease-activated receptor-2 by influence on receptor trafficking.

Submit: New GeneRIF Correction

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

NHGRI GWAS Catalog

Description
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. NHGRI GWA Catalog NHGRI GWA CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of transmembrane emp24 domain trafficking protein 2 (TMED2) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SGC31333 (e-PCR)
- UniSTS:77341

D6S1166E (e-PCR)
- UniSTS:86348

RH124 (e-PCR)
- UniSTS:29867

D9S2014 (e-PCR)
- UniSTS:429

WI-15890 (e-PCR)
- UniSTS:34253

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

Homology

Homologs of the TMED2 gene: The TMED2 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, S.pombe, M.oryzae, N.crassa, and frog.
Orthologs from Annotation Pipeline: 320 organisms have orthologs with human gene TMED2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
COPI coating of Golgi vesicle	TAS Traceable Author Statement more info	PubMed
COPII vesicle coating	TAS Traceable Author Statement more info	PubMed
ER to Golgi vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info	PubMed
ER to Golgi vesicle-mediated transport	TAS Traceable Author Statement more info	PubMed
Golgi organization	IBA Inferred from Biological aspect of Ancestor more info	PubMed
Golgi organization	IMP Inferred from Mutant Phenotype more info	PubMed
cargo loading into vesicle	TAS Traceable Author Statement more info	PubMed
heart looping	IEA Inferred from Electronic Annotation more info
intracellular protein transport	IBA Inferred from Biological aspect of Ancestor more info	PubMed
intracellular protein transport	IDA Inferred from Direct Assay more info	PubMed
labyrinthine layer blood vessel development	IEA Inferred from Electronic Annotation more info
maternal placenta development	IEA Inferred from Electronic Annotation more info
multicellular organism growth	IEA Inferred from Electronic Annotation more info
negative regulation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
neural tube closure	IEA Inferred from Electronic Annotation more info
positive regulation of gene expression	IEA Inferred from Electronic Annotation more info
post-anal tail morphogenesis	IEA Inferred from Electronic Annotation more info
protein localization to plasma membrane	IDA Inferred from Direct Assay more info	PubMed
retrograde vesicle-mediated transport, Golgi to ER	TAS Traceable Author Statement more info
somite rostral/caudal axis specification	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
COPI-coated vesicle	ISS Inferred from Sequence or Structural Similarity more info
COPI-coated vesicle membrane	IEA Inferred from Electronic Annotation more info
COPII-coated ER to Golgi transport vesicle	IBA Inferred from Biological aspect of Ancestor more info	PubMed
ER to Golgi transport vesicle membrane	TAS Traceable Author Statement more info
Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
Golgi cisterna membrane	IEA Inferred from Electronic Annotation more info
Golgi membrane	TAS Traceable Author Statement more info
endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info	PubMed
endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
endoplasmic reticulum membrane	TAS Traceable Author Statement more info
endoplasmic reticulum-Golgi intermediate compartment	IBA Inferred from Biological aspect of Ancestor more info	PubMed
endoplasmic reticulum-Golgi intermediate compartment	IDA Inferred from Direct Assay more info	PubMed
endoplasmic reticulum-Golgi intermediate compartment membrane	TAS Traceable Author Statement more info
integral component of membrane	ISS Inferred from Sequence or Structural Similarity more info
intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
transport vesicle	TAS Traceable Author Statement more info
zymogen granule membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: transmembrane emp24 domain-containing protein 2

Names: coated vesicle membrane protein; membrane protein p24A; p24 family protein beta-1; 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_001321445.2 → NP_001308374.1 transmembrane emp24 domain-containing protein 2 isoform 2 precursor

Status: VALIDATED

Source sequence(s)

AC055713, AI954929, BC025957, BI086507, BP226125, CA445272, DA559763

UniProtKB/Swiss-Prot

Q15363

Conserved Domains (1) summary

pfam01105
Location:20 → 203

EMP24_GP25L; emp24/gp25L/p24 family/GOLD
NM_006815.4 → NP_006806.1 transmembrane emp24 domain-containing protein 2 isoform 1 precursor

See identical proteins and their annotated locations for NP_006806.1

Status: VALIDATED

Source sequence(s)

AC055713, BC025957, BI086507

Consensus CDS

CCDS9250.1

UniProtKB/Swiss-Prot

Q15363

UniProtKB/TrEMBL

Q6FHT8

Related

ENSP00000262225.3, ENST00000262225.8

Conserved Domains (1) summary

pfam01105
Location:20 → 196

EMP24_GP25L; emp24/gp25L/p24 family/GOLD