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

Gene ID: 51290, updated on 3-Nov-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
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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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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 Variation Viewer (GRCh37.p13)

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.

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