AGR2 (anterior gradient 2, protein disulphide isomerase family member)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID 10551
Gene name Anterior gradient 2, protein disulphide isomerase family member
Gene symbol AGR2
Synonyms (NCBI Gene)
AG-2AG2GOB-4HAG-2HEL-S-116HPC8PDIA17RIFTDXAG-2
Chromosome 7
Chromosome location 7p21.1
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 ac
miRNA miRNA information provided by mirtarbase database.
50
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all (50)
miRTarBase ID miRNA Experiments Reference
MIRT004183 hsa-miR-197-3p Microarray 16822819
MIRT018401 hsa-miR-335-5p Microarray 18185580
MIRT737361 hsa-miR-342-3p Luciferase reporter assayWestern blottingqRT-PCRFlow cytometry 32493835
MIRT772996 hsa-miR-194 CLIP-seq
MIRT772997 hsa-miR-2115 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all (4)
Transcription factor Regulation Reference
FOXA1 Unknown 16222343
FOXA2 Unknown 16222343
PA2G4 Activation 20048076
SPDEF Activation 19786015
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all (28)
GO ID Ontology Definition Evidence Reference
GO:0002162 Function Dystroglycan binding IBA
GO:0002162 Function Dystroglycan binding IDA 12592373
GO:0002162 Function Dystroglycan binding IEA
GO:0005154 Function Epidermal growth factor receptor binding IPI 25666625
GO:0005515 Function Protein binding IPI 12592373, 16189514, 19359471, 23220234, 25416956, 25910212, 32296183, 32814053, 34237462
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
606358 328 ENSG00000106541
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95994
Protein name Anterior gradient protein 2 homolog (AG-2) (hAG-2) (HPC8) (Secreted cement gland protein XAG-2 homolog)
Protein function Required for MUC2 post-transcriptional synthesis and secretion. May play a role in the production of mucus by intestinal cells (By similarity). Proto-oncogene that may play a role in cell migration, cell differentiation and cell growth. Promotes
PDB 2LNS , 2LNT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13899 Thioredoxin_7 53 → 133 Domain
Tissue specificity TISSUE SPECIFICITY: Expressed strongly in trachea, lung, stomach, colon, prostate and small intestine. Expressed weakly in pituitary gland, salivary gland, mammary gland, bladder, appendix, ovary, fetal lung, uterus, pancreas, kidney, fetal kidney, testis
Sequence 
MEKIPVSAFLLLVALSYTLARDTTVKPGAKKDTKDSRPKLPQTLSRGWGDQLIWTQTYEE
ALYKSKTSNKPLMIIHHLDECPHSQALKKVFAENKEIQKLAEQFVLLNLVYETTDKHLSP
DGQYVPRIMFVDPSLTVRADITGRYSNRLYAYEPADTALLLDNMKKALKLLKTEL
Sequence length 175
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
AGR2-related disorder Likely pathogenic rs753915618 RCV003929197
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Respiratory infections, recurrent, and failure to thrive with or without diarrhea Likely pathogenic; Pathogenic rs2534653268, rs780638101, rs1483660993, rs923936131, rs753915618 RCV003152493
RCV003152494
RCV003152495
RCV003152496
RCV003447678
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (5)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BREAST NEOPLASMS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CERVICAL CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (127)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 19609859, 21144054, 21454516, 22605983, 28481872, 29937991, 31611954
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 31436131
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 24960290, 25634032, 29662194
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 15834940, 21144054
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma BEFREE 28337279
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 29267283
★★★★★
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 22945649, 25418581, 25646014, 27941872, 29069604
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis, Psoriatic Psoriatic Arthritis BEFREE 28092730
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 22403803, 22945652
★★★★★
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus BEFREE 21829465, 31436131
★★★★★
★☆☆☆☆
Found in Text Mining only