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 MIM:619642; AllianceGenome:HGNC:16996
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
Summary: Predicted to enable frizzled binding activity and smoothened binding activity. Involved in several processes, including Golgi organization; negative regulation of GTPase activity; and protein localization to plasma membrane. Located in Golgi apparatus; endoplasmic reticulum; and endoplasmic reticulum-Golgi intermediate compartment. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in thyroid (RPKM 170.2), colon (RPKM 110.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q24.31

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (123584552..123598582)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (123583417..123597447)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (124069099..124083129)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TMED2 promotes glioma tumorigenesis by being involved in EGFR recycling transport.
Title: TMED2 promotes glioma tumorigenesis by being involved in EGFR recycling transport.
TMED2 Induces Cisplatin Resistance in Breast Cancer via Targeting the KEAP1-Nrf2 Pathway.
Title: TMED2 Induces Cisplatin Resistance in Breast Cancer via Targeting the KEAP1-Nrf2 Pathway.
VIRMA facilitates intrahepatic cholangiocarcinoma progression through epigenetic augmentation of TMED2 and PARD3B mRNA stabilization.
Title: VIRMA facilitates intrahepatic cholangiocarcinoma progression through epigenetic augmentation of TMED2 and PARD3B mRNA stabilization.
Transmembrane p24 trafficking protein 2 regulates inflammation through the TLR4/NF-kappaB signaling pathway in lung adenocarcinoma.
Title: Transmembrane p24 trafficking protein 2 regulates inflammation through the TLR4/NF-κB signaling pathway in lung adenocarcinoma.
The circular RNA CDR1as regulate cell proliferation via TMED2 and TMED10.
Title: The circular RNA CDR1as regulate cell proliferation via TMED2 and TMED10.
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.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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

EBI GWAS Catalog

Description
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. EBI GWAS Catalog EBI GWAS 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

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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

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables frizzled binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables smoothened binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in COPI coating of Golgi vesicle	TAS Traceable Author Statement more info	PubMed
involved_in COPII vesicle coating	TAS Traceable Author Statement more info	PubMed
involved_in Golgi organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in Golgi organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in PERK-mediated unfolded protein response	IEA Inferred from Electronic Annotation more info
involved_in allantois development	IEA Inferred from Electronic Annotation more info
involved_in branching involved in labyrinthine layer morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in chorion development	IEA Inferred from Electronic Annotation more info
involved_in endoplasmic reticulum membrane organization	IEA Inferred from Electronic Annotation more info
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	TAS Traceable Author Statement more info	PubMed
involved_in heart looping	IEA Inferred from Electronic Annotation more info
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in intracellular protein transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular protein transport	IDA Inferred from Direct Assay more info	PubMed
involved_in labyrinthine layer blood vessel development	IEA Inferred from Electronic Annotation more info
involved_in maintenance of protein localization in organelle	IEA Inferred from Electronic Annotation more info
involved_in maternal placenta development	IEA Inferred from Electronic Annotation more info
involved_in multicellular organism growth	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein localization to plasma membrane	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of smoothened signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in neural tube closure	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in post-anal tail morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in protein localization to plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in protein secretion	IEA Inferred from Electronic Annotation more info
involved_in regulation of SREBP signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in somite rostral/caudal axis specification	IEA Inferred from Electronic Annotation more info
involved_in vesicle cargo loading	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in COPI-coated vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in COPI-coated vesicle membrane	IEA Inferred from Electronic Annotation more info
is_active_in COPII-coated ER to Golgi transport vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in ER to Golgi transport vesicle membrane	TAS Traceable Author Statement more info
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi cisterna membrane	IEA Inferred from Electronic Annotation more info
located_in Golgi membrane	TAS Traceable Author Statement more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
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 membrane	TAS Traceable Author Statement more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in transport vesicle	TAS Traceable Author Statement more info
located_in 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:23 → 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:23 → 196

EMP24_GP25L; emp24/gp25L/p24 family/GOLD