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    ERGIC2 ERGIC and golgi 2 [ Homo sapiens (human) ]

    Gene ID: 51290, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ERGIC2provided by HGNC
    Official Full Name
    ERGIC and golgi 2provided by HGNC
    Primary source
    HGNC:HGNC:30208
    See related
    Ensembl:ENSG00000087502 MIM:612236; AllianceGenome:HGNC:30208
    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
    PTX1; CDA14; Erv41; cd002
    Summary
    ERGIC2, or PTX1, is a ubiquitously expressed nuclear protein that is downregulated in prostate carcinoma (Kwok et al., 2001 [PubMed 11445006]).[supplied by OMIM, Aug 2008]
    Expression
    Ubiquitous expression in urinary bladder (RPKM 7.7), placenta (RPKM 7.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ERGIC2 in Genome Data Viewer
    Location:
    12p11.22
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (29337352..29381172, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (29209885..29253701, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (29490285..29534105, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902908 Neighboring gene NANOG hESC enhancer GRCh37_chr12:29298636-29299137 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4319 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:29339379-29339880 Neighboring gene fatty acyl-CoA reductase 2 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:29381828-29382473 Neighboring gene uncharacterized LOC100506606 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6157 Neighboring gene OVCH1 antisense RNA 1 Neighboring gene ovochymase 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27770 Neighboring gene uncharacterized LOC105369714 Neighboring gene transmembrane O-mannosyltransferase targeting cadherins 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. Characterization of a variant of ERGIC2 transcript. Kwok SC, et al. DNA Cell Biol, 2014 Feb. PMID 24303950
    2. Molecular cloning, expression, localization, and gene organization of PTX1, a human nuclear protein that is downregulated in prostate cancer. Kwok SC, et al. DNA Cell Biol, 2001 Jun. PMID 11445006
    3. Effects of PTX1 expression on growth and tumorigenicity of the prostate cancer cell line PC-3. Liu X, et al. DNA Cell Biol, 2003 Jul. PMID 12932305
    4. PTX1(ERGIC2)-VP22 fusion protein upregulates interferon-beta in prostate cancer cell line PC-3. Kwok SC, et al. DNA Cell Biol, 2006 Sep. PMID 16989575
    5. The possible interaction of CDA14 and protein elongation factor 1alpha. Yang YF, et al. Biochim Biophys Acta, 2008 Feb. PMID 17980171

    See all (47) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A variant of ERGIC2 with four coding bases deleted has an abrogated function as a transport shuttle, but does continue to upregulate the heme oxygenase 1 gene, suggesting that it may be involved in the oxidative stress pathway.
      Title: Characterization of a variant of ERGIC2 transcript.
    2. CDA14 participated in the elongation factor 1alpha regulated mechanisms
      Title: The possible interaction of CDA14 and protein elongation factor 1alpha.
    3. may play an important role in the growth and tumorigenicity of PC-3 prostate tumor cells
      Title: Effects of PTX1 expression on growth and tumorigenicity of the prostate cancer cell line PC-3.
    4. Ectopic expression of a partial sequence of PTX1 (Met84 - Leu225) as a VP22-fusion protein in prostate cancer cell line, PC-3, induced cellular senescence.
      Title: PTX1(ERGIC2)-VP22 fusion protein upregulates interferon-beta in prostate cancer cell line PC-3.
    5. ERGIC-32 functions as a modulator of the hErv41-hErv46 complex by stabilizing hErv46
      Title: Proteomics of endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membranes from brefeldin A-treated HepG2 cells identifies ERGIC-32, a new cycling protein that interacts with human Erv46.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with ERGIC2; predicted interaction to be within the endoplasmic reticulum to Golgi transport PubMed
    env HIV-1 gp160 is identified to have a physical interaction with ERGIC and golgi 2 (ERGIC2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses 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

    Homology

    Clone Names

    • MGC111152

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in COPII-coated ER to Golgi transport vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum-Golgi intermediate compartment membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane HDA PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of retrograde transporter complex, Golgi to ER IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of transporter complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    endoplasmic reticulum-Golgi intermediate compartment protein 2
    Names
    CD14 protein

    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)

    1. NM_016570.3 → NP_057654.2  endoplasmic reticulum-Golgi intermediate compartment protein 2

      See identical proteins and their annotated locations for NP_057654.2

      Status: VALIDATED

      Source sequence(s)
      AC009318, AL834128, BC000887, BF681475, BU675240
      Consensus CDS
      CCDS41765.1
      UniProtKB/Swiss-Prot
      A6NHH6, Q53GY2, Q8N2Q9, Q96RQ1, Q9BVV9, Q9NZA3
      UniProtKB/TrEMBL
      Q9HC06
      Related
      ENSP00000353270.4, ENST00000360150.9
      Conserved Domains (2) summary
      pfam07970
      Location:170 → 332
      COPIIcoated_ERV; Endoplasmic reticulum vesicle transporter
      pfam13850
      Location:13 → 95
      ERGIC_N; Endoplasmic Reticulum-Golgi Intermediate Compartment (ERGIC)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      29337352..29381172 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024449009.2 → XP_024304777.1  endoplasmic reticulum-Golgi intermediate compartment protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A6NHH6, Q53GY2, Q8N2Q9, Q96RQ1, Q9BVV9, Q9NZA3
      UniProtKB/TrEMBL
      Q9HC06
      Conserved Domains (2) summary
      pfam07970
      Location:170 → 332
      COPIIcoated_ERV; Endoplasmic reticulum vesicle transporter
      pfam13850
      Location:13 → 95
      ERGIC_N; Endoplasmic Reticulum-Golgi Intermediate Compartment (ERGIC)

    RNA

    1. XR_001748741.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      29209885..29253701 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372196.1 → XP_054228171.1  endoplasmic reticulum-Golgi intermediate compartment protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A6NHH6, Q53GY2, Q8N2Q9, Q96RQ1, Q9BVV9, Q9NZA3
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96RQ1.2 GenPept UniProtKB/Swiss-Prot:Q96RQ1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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