TMED2 Gene (Protein Coding)

Transmembrane P24 Trafficking Protein 2

GC12P123584
GIFtS:
38

Aliases for TMED2 Gene

Aliases for TMED2 Gene

  • Transmembrane P24 Trafficking Protein 2 2 3 5
  • Transmembrane Emp24 Domain Trafficking Protein 2 2 3
  • Transmembrane Emp24 Domain-Containing Protein 2 3 4
  • P24 Family Protein Beta-1 3 4
  • Membrane Protein P24A 3 4
  • P24beta1 3 4
  • RNP24 3 4
  • P24 3 4
  • Coated Vesicle Membrane Protein 3
  • P24b1 3
  • P24A 3

External Ids for TMED2 Gene

Previous GeneCards Identifiers for TMED2 Gene

  • GC12P122595
  • GC12P124069
  • GC12P121030

Summaries for TMED2 Gene

GeneCards Summary for TMED2 Gene

TMED2 (Transmembrane P24 Trafficking Protein 2) is a Protein Coding gene. Diseases associated with TMED2 include Charcot-Marie-Tooth Disease, Axonal, Type 2L. Among its related pathways are Vesicle-mediated transport and Transport to the Golgi and subsequent modification. An important paralog of this gene is TMED7.

UniProtKB/Swiss-Prot Summary for TMED2 Gene

  • Involved in vesicular protein trafficking. Mainly functions in the early secretory pathway but also in post-Golgi membranes. Thought to act as cargo receptor at the lumenal side for incorporation of secretory cargo molecules into transport vesicles and to be involved in vesicle coat formation at the cytoplasmic side. In COPII vesicle-mediated anterograde transport involved in the transport of GPI-anchored proteins and proposed to act together with TMED10 as their cargo receptor; the function specifically implies SEC24C and SEC24D of the COPII vesicle coat and lipid raft-like microdomains of the ER. Recognizes GPI anchors structural remodeled in the ER by PGAP1 and MPPE1. In COPI vesicle-mediated retrograde transport inhibits the GTPase-activating activity of ARFGAP1 towards ARF1 thus preventing immature uncoating and allowing cargo selection to take place. Involved in trafficking of G protein-coupled receptors (GPCRs). Regulates F2RL1, OPRM1 and P2RY4 exocytic trafficking from the Golgi to the plasma membrane thus contributing to receptor resensitization. Facilitates CASR maturation and stabilization in the early secretory pathway and increases CASR plasma membrane targeting. Proposed to be involved in organization of intracellular membranes such as the maintenance of the Golgi apparatus. May also play a role in the biosynthesis of secreted cargo such as eventual processing.

Gene Wiki entry for TMED2 Gene

Additional gene information for TMED2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMED2 Gene

Genomics for TMED2 Gene

GeneHancer (GH) Regulatory Elements for TMED2 Gene

Promoters and enhancers for TMED2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMED2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMED2 gene promoter:
  • AP-1
  • COMP1
  • CUTL1
  • Evi-1
  • GATA-1
  • MIF-1
  • NF-kappaB
  • NF-kappaB1
  • STAT1
  • STAT5B

Genomic Locations for TMED2 Gene

Genomic Locations for TMED2 Gene
chr12:123,584,529-123,598,582
(GRCh38/hg38)
Size:
14,054 bases
Orientation:
Plus strand
chr12:124,069,076-124,083,116
(GRCh37/hg19)
Size:
14,041 bases
Orientation:
Plus strand

Genomic View for TMED2 Gene

Genes around TMED2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMED2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMED2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TMED2 Gene

Proteins for TMED2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for TMED2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15363-TMED2_HUMAN
    Recommended name:
    Transmembrane emp24 domain-containing protein 2
    Protein Accession:
    Q15363

    Protein attributes for TMED2 Gene

    Size:
    201 amino acids
    Molecular mass:
    22761 Da
    Quaternary structure:
    • Monomer and homodimer in the endoplasmic reticulum, endoplasmic reticulum-Golgi intermediate compartment and Golgi. Probably oligomerizes with other members of the EMP24/GP25L family such as TMED7, TMED9 and TMED10. Interacts (via GOLD domain) with TMED10 (via GOLD domain). Associates with the COPI vesicle coat (coatomer); TMED10:TMED2 heterotetramers are proposed to be involved in coatomer association. Interacts (via C-terminus) with COPG1; the interaction involves dimeric TMED2. Interacts with SEC23A; indicative for an association of TMED2 with the COPII vesicle coat. Interacts with ARF1 and ARFGAP1 (By similarity). Interacts with CD59, SEC24A, SEC24B, SEC24C, SEC24D and ATLA1. Interacts with KDELR1; the interaction is decreased by KDEL ligand (By similarity). Interacts with F2RL1; the interaction occurs at the Golgi apparatus. Interacts with CASR (immaturely glycosylated form); the interaction occurs in the endoplasmic reticulum-Golgi intermediate compartment or cis-Golgi. Interacts with F2RL1; the interaction occurs at the Golgi apparatus. Interacts with GORASP1 and GORASP2 (By similarity). Found in a complex composed at least of SURF4, TMED2 and TMED10.
    Miscellaneous:
    • Ectopic expression of TMED2 alone does not result in its proper cis-Golgi network localization. Coexpression of TMED10 is necessary, and coexpression of TMED3 and/or TMED9 is facilitating localization. Down-regulation of TMED10 expression reduces TMED2 protein level.

    Three dimensional structures from OCA and Proteopedia for TMED2 Gene

neXtProt entry for TMED2 Gene

Protein Expression for TMED2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TMED2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TMED2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for TMED2

No data available for DME Specific Peptides for TMED2 Gene

Domains & Families for TMED2 Gene

Gene Families for TMED2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins
  • Predicted secreted proteins
  • Transporters

Protein Domains for TMED2 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMED2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52153, highly similar to Transmembrane emp24 domain-containing protein 2 (B4DP27_HUMAN)
  • cDNA, FLJ93436, Homo sapiens coated vesicle membrane protein (RNP24), mRNA (Q6FHT8_HUMAN)
  • Membrane protein p24A (TMED2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15363

UniProtKB/Swiss-Prot:

TMED2_HUMAN :
  • Belongs to the EMP24/GP25L family.
Family:
  • Belongs to the EMP24/GP25L family.
genes like me logo Genes that share domains with TMED2: view

Function for TMED2 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for TMED2 Gene

UniProtKB/Swiss-Prot Function:
Involved in vesicular protein trafficking. Mainly functions in the early secretory pathway but also in post-Golgi membranes. Thought to act as cargo receptor at the lumenal side for incorporation of secretory cargo molecules into transport vesicles and to be involved in vesicle coat formation at the cytoplasmic side. In COPII vesicle-mediated anterograde transport involved in the transport of GPI-anchored proteins and proposed to act together with TMED10 as their cargo receptor; the function specifically implies SEC24C and SEC24D of the COPII vesicle coat and lipid raft-like microdomains of the ER. Recognizes GPI anchors structural remodeled in the ER by PGAP1 and MPPE1. In COPI vesicle-mediated retrograde transport inhibits the GTPase-activating activity of ARFGAP1 towards ARF1 thus preventing immature uncoating and allowing cargo selection to take place. Involved in trafficking of G protein-coupled receptors (GPCRs). Regulates F2RL1, OPRM1 and P2RY4 exocytic trafficking from the Golgi to the plasma membrane thus contributing to receptor resensitization. Facilitates CASR maturation and stabilization in the early secretory pathway and increases CASR plasma membrane targeting. Proposed to be involved in organization of intracellular membranes such as the maintenance of the Golgi apparatus. May also play a role in the biosynthesis of secreted cargo such as eventual processing.

Phenotypes From GWAS Catalog for TMED2 Gene

Gene Ontology (GO) - Molecular Function for TMED2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10359607
genes like me logo Genes that share ontologies with TMED2: view
genes like me logo Genes that share phenotypes with TMED2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMED2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMED2 Gene

Localization for TMED2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMED2 Gene

Cytoplasmic vesicle membrane; Single-pass type I membrane protein. Cytoplasmic vesicle, COPI-coated vesicle membrane; Single-pass type I membrane protein. Golgi apparatus, cis-Golgi network membrane; Single-pass type I membrane protein. Golgi apparatus, Golgi stack membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane; Single-pass type I membrane protein. Note=Cycles between compartments of the early secretatory pathway. {ECO:0000269 PubMed:12237308}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMED2 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 1
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMED2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005783 endoplasmic reticulum IBA,IDA 12237308
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IDA 12237308
GO:0005794 Golgi apparatus IDA,IBA 12237308
genes like me logo Genes that share ontologies with TMED2: view

Pathways & Interactions for TMED2 Gene

genes like me logo Genes that share pathways with TMED2: view

Gene Ontology (GO) - Biological Process for TMED2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0001756 somitogenesis IEA --
GO:0001843 neural tube closure IEA --
GO:0001892 embryonic placenta development IEA --
GO:0001893 maternal placenta development IEA --
genes like me logo Genes that share ontologies with TMED2: view

No data available for SIGNOR curated interactions for TMED2 Gene

Drugs & Compounds for TMED2 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for TMED2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for TMED2 Gene

(2) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(821) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMED2

Alternative Splicing Database (ASD) splice patterns (SP) for TMED2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b
SP1:
SP2:
SP3:

Relevant External Links for TMED2 Gene

GeneLoc Exon Structure for
TMED2
ECgene alternative splicing isoforms for
TMED2

Expression for TMED2 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMED2 Gene

mRNA expression in normal human tissues for TMED2 Gene
mRNA expression by BioGPS for TMED2 GenemRNA expression by GTEx for TMED2 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TMED2 Gene



Protein tissue co-expression partners for TMED2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TMED2 Gene:

TMED2

SOURCE GeneReport for Unigene cluster for TMED2 Gene:

Hs.733403

Evidence on tissue expression from TISSUES for TMED2 Gene

  • Nervous system(4.9)
  • Liver(4.7)
  • Muscle(4.4)
  • Skin(3.9)
  • Pancreas(3.8)
  • Intestine(3.4)
  • Lung(3.4)
  • Kidney(3.3)
  • Eye(3)
  • Thyroid gland(2.1)
genes like me logo Genes that share expression patterns with TMED2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMED2 Gene

Orthologs for TMED2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TMED2 Gene

Organism Taxonomy Gene Similarity Type Details
platypus
(Ornithorhynchus anatinus)
 Mammalia TMED2 33
  • 100 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia TMED2 32
  • 99.17 (n)
dog
(Canis familiaris)
 Mammalia TMED2 33 32
  • 94.03 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia TMED2 33 32
  • 93.03 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Tmed2 32
  • 92.21 (n)
mouse
(Mus musculus)
 Mammalia Tmed2 33 32
  • 91.54 (n)
 OneToOne
Tmed2b 17
oppossum
(Monodelphis domestica)
 Mammalia TMED2 33
  • 52 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves TMED2 33 32
  • 88.16 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia TMED2 33
  • 91 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia tmed2 32
  • 85.06 (n)
Str.8778 32
African clawed frog
(Xenopus laevis)
 Amphibia rnp24-prov 32
zebrafish
(Danio rerio)
 Actinopterygii tmed2 33 32
  • 80.15 (n)
 OneToOne
wufb18g06 32
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.11035 32
fruit fly
(Drosophila melanogaster)
 Insecta CHOp24 33 32
  • 64.65 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP004743 32
  • 63.19 (n)
worm
(Caenorhabditis elegans)
 Secernentea sel-9 33 32
  • 67.03 (n)
 OneToOne
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes EMP24 35 33 32
  • 47.86 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F12518g 32
  • 45.52 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.5670 33
  • 73 (a)
 OneToOne
Cin.1779 32
bread mold
(Neurospora crassa)
 Ascomycetes NCU08339 32
  • 50.1 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes emp24 32
  • 45.25 (n)
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.1779 32
Species where no ortholog for TMED2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TMED2 Gene

ENSEMBL:
Gene Tree for TMED2 (if available)
TreeFam:
Gene Tree for TMED2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TMED2: view image

Paralogs for TMED2 Gene

Paralogs for TMED2 Gene

(5) SIMAP similar genes for TMED2 Gene using alignment to 3 proteins:

  • TMED2_HUMAN
  • E7EQ72_HUMAN
  • F5GX39_HUMAN

Pseudogenes.org Pseudogenes for TMED2 Gene

genes like me logo Genes that share paralogs with TMED2: view

Variants for TMED2 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for TMED2 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000106686 -- 123,584,457(+) A/G/T upstream_transcript_variant
rs1000112090 -- 123,598,890(+) G/A downstream_transcript_variant
rs1000372981 -- 123,597,855(+) T/TGT 3_prime_UTR_variant
rs1000423998 -- 123,598,158(+) A/G 3_prime_UTR_variant
rs1000756977 -- 123,596,218(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TMED2 Gene

Variant ID Type Subtype PubMed ID
dgv523e212 CNV loss 25503493
esv2422416 CNV duplication 17116639
nsv1042181 CNV gain 25217958

Variation tolerance for TMED2 Gene

Residual Variation Intolerance Score: 28.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.26; 5.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMED2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMED2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMED2 Gene

Disorders for TMED2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TMED2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, axonal, type 2l
  • cmt2l
- elite association - COSMIC cancer census association via MalaCards
Search TMED2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TMED2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TMED2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMED2 Gene

Publications for TMED2 Gene

  1. Tmp21 and p24A, two type I proteins enriched in pancreatic microsomal membranes, are members of a protein family involved in vesicular trafficking. (PMID: 8663407) Blum R … Schulz I (The Journal of biological chemistry 1996) 2 3 4 23 56
  2. 3D Structure and Interaction of p24β and p24δ Golgi Dynamics Domains: Implication for p24 Complex Formation and Cargo Transport. (PMID: 27569046) Nagae M … Yamaguchi Y (Journal of molecular biology 2016) 3 4 56
  3. 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. (PMID: 21219331) Luo W … Reiser G (Journal of neurochemistry 2011) 3 4 56
  4. The cargo receptor p24A facilitates calcium sensing receptor maturation and stabilization in the early secretory pathway. (PMID: 20361938) Stepanchick A … Breitwieser GE (Biochemical and biophysical research communications 2010) 3 4 56
  5. Selective export of human GPI-anchored proteins from the endoplasmic reticulum. (PMID: 20427317) Bonnon C … Hauri HP (Journal of cell science 2010) 3 4 56

ExternalLinks

View latest publications for TMED2 gene in Mastermind

Products for TMED2 Gene

  • Addgene plasmids for TMED2

Sources for TMED2 Gene