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

Gene ID: 10551, updated on 12-Jul-2020

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
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]
Expression
Biased expression in stomach (RPKM 530.9), colon (RPKM 321.4) and 6 other tissues See more
Orthologs

Genomic context

See AGR2 in Genome Data Viewer
Location:
7p21.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (16791811..16804999, 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 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

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
dystroglycan binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dystroglycan binding IDA
Inferred from Direct Assay
more info
PubMed 
epidermal growth factor receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein localization to plasma membrane 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 

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)

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
    Q4JM46
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 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
    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 ...
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