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

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: mouse all
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Genomic context

Location:: 7p21.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (16791811..16804999, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (16921380..16934682, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (16831435..16844623, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Clinical implications of AGR2 in primary prostate cancer: Results from a large-scale study.
Title: Clinical implications of AGR2 in primary prostate cancer: Results from a large-scale study.
Clinical value of serum and tissue AGR2 for diagnosis and prognosis in epithelial ovarian cancer.
Title: Clinical value of serum and tissue AGR2 for diagnosis and prognosis in epithelial ovarian cancer.
Potential Role of AGR2 for Mammalian Skin Wound Healing.
Title: Potential Role of AGR2 for Mammalian Skin Wound Healing.
AGR2 Gene Expression in Glioblastoma: A Novel Molecular Potential Target for Diagnosis and Treatment.
Title: AGR2 Gene Expression in Glioblastoma: A Novel Molecular Potential Target for Diagnosis and Treatment.
ESE1/AGR2 axis antagonizes TGF-beta-induced epithelial-mesenchymal transition in low-grade pancreatic cancer.
Title: ESE1/AGR2 axis antagonizes TGF-β-induced epithelial-mesenchymal transition in low-grade pancreatic cancer.
Expression of KAI1 and AGR2 in lung adenocarcinoma and their clinicopathological significance.
Title: Expression of KAI1 and AGR2 in lung adenocarcinoma and their clinicopathological significance.
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.
Title: A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.
Integrative analysis of genomic and transcriptomic alterations of AGR2 and AGR3 in cancer.
Title: Integrative analysis of genomic and transcriptomic alterations of AGR2 and AGR3 in cancer.
Anterior gradient protein 2 is a marker of tumor aggressiveness in breast cancer and favors chemotherapyinduced senescence escape.
Title: Anterior gradient protein 2 is a marker of tumor aggressiveness in breast cancer and favors chemotherapy‑induced senescence escape.
Characterization of the AGR2 Interactome Uncovers New Players of Protein Disulfide Isomerase Network in Cancer Cells.
Title: Characterization of the AGR2 Interactome Uncovers New Players of Protein Disulfide Isomerase Network in Cancer Cells.

Submit: New GeneRIF Correction See all GeneRIFs (133)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

Process	Evidence Code	Pubs
involved_in digestive tract morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in lung goblet cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in mucus secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of IRE1-mediated unfolded protein response	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of PERK-mediated unfolded protein response	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell-substrate adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of developmental growth	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of epidermal growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein localization to plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in response to endoplasmic reticulum stress	IMP Inferred from Mutant Phenotype 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

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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)

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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)

NM_006408.4 → NP_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:47 → 175

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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

16791811..16804999 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005249581.5 → XP_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:47 → 175

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 ...