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

    Gene ID: 10959, updated on 5-Mar-2024

    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
    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, Apr 2022]
    Expression
    Ubiquitous expression in thyroid (RPKM 170.2), colon (RPKM 110.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    12q24.31
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (123584552..123598582)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (123583417..123597447)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (124069099..124083129)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5047 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7271 Neighboring gene TMED2 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5048 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7272 Neighboring gene DEAD-box helicase 55 Neighboring gene uncharacterized LOC105370041 Neighboring gene small nucleolar RNA, H/ACA box 9B Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:124105924-124107123 Neighboring gene eukaryotic translation initiation factor 2B subunit alpha

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ21323

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cargo receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 endoplasmic reticulum stress-induced eIF2 alpha phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    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

    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)

    NEW Try the new Transcript table

    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)

    1. NM_001321445.2NP_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:23203
      EMP24_GP25L; emp24/gp25L/p24 family/GOLD
    2. NM_006815.4NP_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:23196
      EMP24_GP25L; emp24/gp25L/p24 family/GOLD

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      123584552..123598582
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      123583417..123597447
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)