Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 10551
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol AGR2   Gene   UCSC   Ensembl
Aliases AG-2, AG2, GOB-4, HAG-2, HEL-S-116, HPC8, PDIA17, XAG-2
Gene name anterior gradient 2, protein disulphide isomerase family member
Alternate names anterior gradient protein 2 homolog, 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,
Gene location 7p21.1 (16805113: 16791810)     Exons: 8     NC_000007.14
Gene summary(Entrez) 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]
OMIM 606358

Protein Summary

Protein general information O95994  

Name: Anterior gradient protein 2 homolog (AG 2) (hAG 2) (HPC8) (Secreted cement gland protein XAG 2 homolog)

Length: 175  Mass: 19,979

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 MEKIPVSAFLLLVALSYTLARDTTVKPGAKKDTKDSRPKLPQTLSRGWGDQLIWTQTYEEALYKSKTSNKPLMII
HHLDECPHSQALKKVFAENKEIQKLAEQFVLLNLVYETTDKHLSPDGQYVPRIMFVDPSLTVRADITGRYSNRLY
AYEPADTALLLDNMKKALKLLKTEL
Structural information

Motifs
Homodimer stabilizatio(45-54)
({ECO:0000244|PDB:2LNS,-ECO:0000269|PubMed:23274113})
Homodimer stabilizatio(60-67)
({ECO:0000244|PDB:2LNS,-ECO:0000269|PubMed:23274113}.)
Interpro:  IPR012336

PDB:  
2LNS 2LNT
PDBsum:   2LNS 2LNT

DIP:  
48825
MINT:   2868509
STRING:   ENSP00000391490;
Other Databases GeneCards:  AGR2;  Malacards:  AGR2

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0002162 dystroglycan binding
IDA molecular_function
GO:0005154 epidermal growth factor r
eceptor binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005739 mitochondrion
IEA cellular_component
GO:0005783 endoplasmic reticulum
ISS cellular_component
GO:0005783 endoplasmic reticulum
IMP cellular_component
GO:0010628 positive regulation of ge
ne expression
IMP biological_process
GO:0010811 positive regulation of ce
ll-substrate adhesion
IMP biological_process
GO:0042803 protein homodimerization
activity
IMP molecular_function
GO:0042803 protein homodimerization
activity
IMP molecular_function
GO:0045742 positive regulation of ep
idermal growth factor rec
eptor signaling pathway
IMP biological_process
GO:0048546 digestive tract morphogen
esis
ISS biological_process
GO:0048639 positive regulation of de
velopmental growth
ISS biological_process
GO:0060480 lung goblet cell differen
tiation
IEA biological_process
GO:0060548 negative regulation of ce
ll death
IMP biological_process
GO:0070254 mucus secretion
ISS biological_process
GO:0090004 positive regulation of es
tablishment of protein lo
calization to plasma memb
rane
IMP biological_process
GO:1903896 positive regulation of IR
E1-mediated unfolded prot
ein response
IDA biological_process
GO:1903899 positive regulation of PE
RK-mediated unfolded prot
ein response
IDA biological_process
GO:0034976 response to endoplasmic r
eticulum stress
IMP biological_process
GO:0002162 dystroglycan binding
IDA molecular_function
GO:0005154 epidermal growth factor r
eceptor binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
IEA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005739 mitochondrion
IEA cellular_component
GO:0005783 endoplasmic reticulum
IEA cellular_component
GO:0005783 endoplasmic reticulum
ISS cellular_component
GO:0005783 endoplasmic reticulum
IEA cellular_component
GO:0005783 endoplasmic reticulum
IEA cellular_component
GO:0005783 endoplasmic reticulum
IMP cellular_component
GO:0010628 positive regulation of ge
ne expression
IMP biological_process
GO:0010811 positive regulation of ce
ll-substrate adhesion
IMP biological_process
GO:0042803 protein homodimerization
activity
IMP molecular_function
GO:0042803 protein homodimerization
activity
IMP molecular_function
GO:0045742 positive regulation of ep
idermal growth factor rec
eptor signaling pathway
IMP biological_process
GO:0048546 digestive tract morphogen
esis
IEA biological_process
GO:0048546 digestive tract morphogen
esis
ISS biological_process
GO:0048639 positive regulation of de
velopmental growth
IEA biological_process
GO:0048639 positive regulation of de
velopmental growth
ISS biological_process
GO:0060480 lung goblet cell differen
tiation
IEA biological_process
GO:0060548 negative regulation of ce
ll death
IMP biological_process
GO:0070254 mucus secretion
IEA biological_process
GO:0070254 mucus secretion
ISS biological_process
GO:0090004 positive regulation of es
tablishment of protein lo
calization to plasma memb
rane
IMP biological_process
GO:1903896 positive regulation of IR
E1-mediated unfolded prot
ein response
IDA biological_process
GO:1903899 positive regulation of PE
RK-mediated unfolded prot
ein response
IDA biological_process
GO:0034976 response to endoplasmic r
eticulum stress
IMP biological_process
GO:0002162 dystroglycan binding
IDA molecular_function
GO:0005154 epidermal growth factor r
eceptor binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005783 endoplasmic reticulum
ISS cellular_component
GO:0005783 endoplasmic reticulum
IMP cellular_component
GO:0010628 positive regulation of ge
ne expression
IMP biological_process
GO:0010811 positive regulation of ce
ll-substrate adhesion
IMP biological_process
GO:0042803 protein homodimerization
activity
IMP molecular_function
GO:0042803 protein homodimerization
activity
IMP molecular_function
GO:0045742 positive regulation of ep
idermal growth factor rec
eptor signaling pathway
IMP biological_process
GO:0048546 digestive tract morphogen
esis
ISS biological_process
GO:0048639 positive regulation of de
velopmental growth
ISS biological_process
GO:0060548 negative regulation of ce
ll death
IMP biological_process
GO:0070254 mucus secretion
ISS biological_process
GO:0090004 positive regulation of es
tablishment of protein lo
calization to plasma memb
rane
IMP biological_process
GO:1903896 positive regulation of IR
E1-mediated unfolded prot
ein response
IDA biological_process
GO:1903899 positive regulation of PE
RK-mediated unfolded prot
ein response
IDA biological_process
GO:0034976 response to endoplasmic r
eticulum stress
IMP biological_process

Diseases

Associated diseases References
Crohn's disease PMID: 16222343
Endometriosis PMID: 22147918
Endometriosis INFBASE17081533

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
22147918 Endometrio
sis

73 (35 fertile
women without e
ndometriosis, 3
8 women with su
rgically diagno
sed endometrios
is)
S100P
S100A4
osteopontin (OPN) or anterior gradient homologue 2 (AGR2)
Show abstract
17081533 Endometrio
sis

73 (35 fertile
women without e
ndometriosis, 3
8 women with su
rgically diagno
sed endometrios
is)
S100P
AGR2 and OPN
Show abstract