Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    AGR2 anterior gradient 2, protein disulphide isomerase family member [ Homo sapiens (human) ]

    Gene ID: 10551, updated on 12-Mar-2017
    Official Symbol
    AGR2provided by HGNC
    Official Full Name
    anterior gradient 2, protein disulphide isomerase family memberprovided by HGNC
    Primary source
    HGNC:HGNC:328
    See related
    Ensembl:ENSG00000106541 MIM:606358; Vega:OTTHUMG00000023446
    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
    AG2; AG-2; HPC8; GOB-4; HAG-2; XAG-2; PDIA17; HEL-S-116
    Summary
    This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, and a C-terminal ER-retention sequence. This protein plays a role in cell migration, cellular transformation and metastasis and is as a p53 inhibitor. As an ER-localized molecular chaperone, it plays a role in the folding, trafficking, and assembly of cysteine-rich transmembrane receptors and the cysteine-rich intestinal gylcoprotein mucin. This gene has been implicated in inflammatory bowel disease and cancer progression. [provided by RefSeq, Mar 2017]
    Orthologs
    Location:
    7p21.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (16791811..16805114, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (16831437..16844738, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene basic leucine zipper and W2 domains 2 Neighboring gene tetraspanin 13 Neighboring gene Rho GTPase activating protein 20 pseudogene Neighboring gene RAD17 checkpoint clamp loader component pseudogene 1 Neighboring gene anterior gradient 3, protein disulphide isomerase family member

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Exploring genome-wide - dietary heme iron intake interactions and the risk of type 2 diabetes.
    NHGRI GWA Catalog
    Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
    NHGRI GWA Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    dystroglycan binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    epidermal growth factor receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    digestive tract morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    lung goblet cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    mucus secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of cell death IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of IRE1-mediated unfolded protein response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of PERK-mediated unfolded protein response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cell-substrate adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of developmental growth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of epidermal growth factor receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of establishment of protein localization to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT response to endoplasmic reticulum stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    endoplasmic reticulum IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    anterior gradient protein 2 homolog
    Names
    anterior gradient homolog 2
    epididymis secretory protein Li 116
    protein disulfide isomerase family A, member 17
    secreted cement gland homolog
    secreted cement gland protein XAG-2 homolog

    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_006408.3NP_006399.1  anterior gradient protein 2 homolog precursor

      See identical proteins and their annotated locations for NP_006399.1

      Status: VALIDATED

      Source sequence(s)
      AF088867, BF680655
      Consensus CDS
      CCDS5364.1
      UniProtKB/Swiss-Prot
      O95994
      UniProtKB/TrEMBL
      Q4JM46
      Related
      ENSP00000391490, OTTHUMP00000116014, ENST00000419304, OTTHUMT00000207594
      Conserved Domains (1) summary
      cd02960
      Location:47175
      AGR; Anterior Gradient (AGR) family; members of this family are similar to secreted proteins encoded by the cement gland-specific genes XAG-1 and XAG-2, expressed in the anterior region of dorsal ectoderm of Xenopus. They are implicated in the formation of ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      16791811..16805114 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005249581.4XP_005249638.1  anterior gradient protein 2 homolog isoform X1

      See identical proteins and their annotated locations for XP_005249638.1

      UniProtKB/Swiss-Prot
      O95994
      UniProtKB/TrEMBL
      Q4JM46
      Conserved Domains (1) summary
      cd02960
      Location:47175
      AGR; Anterior Gradient (AGR) family; members of this family are similar to secreted proteins encoded by the cement gland-specific genes XAG-1 and XAG-2, expressed in the anterior region of dorsal ectoderm of Xenopus. They are implicated in the formation of ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      16833176..16845615 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center