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

    Gene ID: 10551, updated on 9-Dec-2024

    Summary

    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; AllianceGenome:HGNC:328
    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; RIFTD; 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]
    Expression
    Biased expression in stomach (RPKM 530.9), colon (RPKM 321.4) and 6 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See AGR2 in Genome Data Viewer
    Location:
    7p21.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (16791811..16804999, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (16921380..16934682, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (16831435..16844623, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene NANOG hESC enhancer GRCh37_chr7:16687980-16688491 Neighboring gene NANOG hESC enhancer GRCh37_chr7:16697377-16697960 Neighboring gene basic leucine zipper and W2 domains 2 Neighboring gene Sharpr-MPRA regulatory region 12164 Neighboring gene tetraspanin 13 Neighboring gene uncharacterized LOC124901593 Neighboring gene Rho GTPase activating protein 20 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr7:16902535-16902704 Neighboring gene RAD17 pseudogene 1 Neighboring gene anterior gradient 3, protein disulphide isomerase family member

    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

    Associated conditions

    Description Tests
    Respiratory infections, recurrent, and failure to thrive with or without diarrhea
    MedGen: C5774306 OMIM: 620233 GeneReviews: Not available
    not available

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dystroglycan binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables dystroglycan binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables epidermal growth factor receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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

    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_006408.4NP_006399.1  anterior gradient protein 2 homolog precursor

      See identical proteins and their annotated locations for NP_006399.1

      Status: VALIDATED

      Source sequence(s)
      AC073333, AF088867
      Consensus CDS
      CCDS5364.1
      UniProtKB/Swiss-Prot
      O95994
      UniProtKB/TrEMBL
      B2R7D7, Q4JM46, Q53G64
      Related
      ENSP00000391490.2, ENST00000419304.7
      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: 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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      16791811..16804999 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005249581.5XP_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
      B2R7D7, Q4JM46, Q53G64
      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 T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      16921380..16934682 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357093.1XP_054213068.1  anterior gradient protein 2 homolog isoform X1

      UniProtKB/Swiss-Prot
      O95994
      UniProtKB/TrEMBL
      B2R7D7, Q4JM46, Q53G64