AGR2
entrez
10551
canonical
uniprot
O95994
canonical
ensembl
ENSG00000106541
resolver
ensp
ENSP00000391490
resolver
ensp
ENSP00000561256
resolver
ensp
ENSP00000561257
resolver
ensp
ENSP00000561258
resolver
ensp
ENSP00000635228
resolver
ensp
ENSP00000635229
resolver
enst
ENST00000419304
resolver
enst
ENST00000891197
resolver
enst
ENST00000891198
resolver
enst
ENST00000891199
resolver
enst
ENST00000965169
resolver
enst
ENST00000965170
resolver
genesymbol
AGR2
resolver
genesymbol
HEL-S-116
resolver
genesymbol_syn
AG2
resolver
genesymbol_syn
AGR2
resolver
hgnc
HGNC:328
resolver
uniprot
Q4JM46
resolver
uniprot_entry
AGR2_HUMAN
resolver
uniprot_entry
Q4JM46_HUMAN
resolver
amino_acid_sequence
MEKIPVSAFLLLVALSYTLARDTTVKPGAKKDTKDSRPKLPQTLSRGWGDQLIWTQTYEEALYKSKTSNKPLMIIHHLDECPHSQALKKVFAENKEIQKLAEQFVLLNLVYETTDKHLSPDGQYVPRIMFVDPSLTVRADITGRYSNRLYAYEPADTALLLDNMKKALKLLKTEL
uniprot
proteins
disease_involvement
DISEASE: Respiratory infections, recurrent, and failure to thrive with or without diarrhea (RIFTD) [MIM:620233]: An autosomal recessive disorder characterized by neonatal onset of recurrent pulmonary infections, coughing, wheezy episodes, interstitial lung disease, and bronchiectasis. Episodes of vomiting and chronic diarrhea result in failure to thrive. Results of sweat chloride and pancreatic elastase tests are normal. {ECO:0000269|PubMed:34237462, ECO:0000269|PubMed:34952832, ECO:0000269|PubMed:39673647}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 cell adhesion (PubMed:23274113). {ECO:0000250, ECO:0000269|PubMed:18199544, ECO:0000269|PubMed:23274113}.
uniprot
proteins
mass_dalton
19979
uniprot
proteins
mutagenesis
MUTAGEN 60; /note="E->A: Monomer only, and reduced cell adhesion efficiency."; /evidence="ECO:0000269|PubMed:23274113"; MUTAGEN 63; /note="Y->A: Disrupted dimerization."; /evidence="ECO:0000269|PubMed:23274113"; MUTAGEN 64; /note="K->A: Disrupted dimerization."; /evidence="ECO:0000269|PubMed:23274113"; MUTAGEN 81; /note="C->S: Loss of interaction with MUC2."; /evidence="ECO:0000269|PubMed:19359471
uniprot
proteins
protein_family
AGR family
uniprot
proteins
pubmed
12592373
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
15340161
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15834940
uniprot
proteins
pubmed
18199544
uniprot
proteins
pubmed
19359471
uniprot
proteins
pubmed
23274113
uniprot
proteins
pubmed
34237462
uniprot
proteins
pubmed
34952832
uniprot
proteins
pubmed
39673647
uniprot
proteins
pubmed
9790916
uniprot
proteins
sequence_length
175
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:15834940}. Endoplasmic reticulum {ECO:0000250|UniProtKB:O88312}.
uniprot
proteins