MAN2B2
entrez
23324
canonical
uniprot
Q9Y2E5
canonical
ensembl
ENSG00000013288
resolver
ensp
ENSP00000285599
resolver
ensp
ENSP00000423129
resolver
enst
ENST00000504248
resolver
genesymbol
MAN2B2
resolver
genesymbol_syn
KIAA0935
resolver
hgnc
HGNC:29623
resolver
uniprot
B7Z754
resolver
uniprot
E9PCD7
resolver
uniprot
Q66MP2
resolver
uniprot
Q86T67
resolver
uniprot_entry
B7Z754_HUMAN
resolver
uniprot_entry
E9PCD7_HUMAN
resolver
uniprot_entry
MA2B2_HUMAN
resolver
uniprot_sec
Q66MP2
resolver
uniprot_sec
Q86T67
resolver
activity_regulation
ACTIVITY REGULATION: Strongly stimulated by Co(2+) and less efficiently by Zn(2+), Mg(2+) and Mn(2+) (PubMed:19722277, PubMed:1577805, PubMed:16115860). Inhibited by swainsonine, swainsonine derivatives, and mannostatin A (PubMed:19722277, PubMed:1577805). {ECO:0000269|PubMed:1577805, ECO:0000269|PubMed:16115860, ECO:0000269|PubMed:19722277}.
uniprot
proteins
amino_acid_sequence
MGQLCWLPLLAPLLLLRPPGVQSAGPIRAFVVPHSHMDVGWVYTVQESMRAYAANVYTSVVEELARGQQRRFIAVEQEFFRLWWDGVASDQQKYQVRQLLEEGRLEFVIGGQVMHDEAVTHLDDQILQLTEGHGFLYETFGIRPQFSWHVDPFGASATTPTLFALAGFNAHLGSRIDYDLKAAMQEARGLQFVWRGSPSLSERQEIFTHIMDQYSYCTPSHIPFSNRSGFYWNGVAVFPKPPQDGVYPNMSEPVTPANINLYAEALVANVKQRAAWFRTPHVLWPWGCDKQFFNASVQFANMDPLLDHINSHAAELGVSVQYATLGDYFRALHALNVTWRVRDHHDFLPYSTEPFQAWTGFYTSRSSLKGLARRASALLYAGESMFTRYLWPAPRGHLDPTWALQQLQQLRWAVSEVQHHDAITGTESPKVRDMYATHLASGMLGMRKLMASIVLDELQPQAPMAASSDAGPAGHFASVYNPLAWTVTTIVTLTVGFPGVRVTDEAGHPVPSQIQNSTETPSAYDLLILTTIPGLSYRHYNIRPTAGAQEGTQEPAATVASTLQFGRRLRRRTSHAGRYLVPVANDCYIVLLDQDTNLMHSIWERQSNRTVRVTQEFLEYHVNGDVKQGPISDNYLFTPGKAAVPAWEAVEMEIVAGQLVTEIRQYFYRNMTAQNYTYAIRSRLTHVPQGHDGELLCHRIEQEYQAGPLELNREAVLRTSTNLNSQQVIYSDNNGYQMQRRPYVSYVNNSIARNYYPMVQSAFMEDGKSRLVLLSERAHGISSQGNGQVEVMLHRRLWNNFDWDLGYNLTLNDTSVVHPVLWLLLGSWSLTTALRQRSALALQHRPVVLFGDLAGTAPKLPGPQQQEAVTLPPNLHLQILSIPGWRYSSNHTEHSQNLRKGHRGEAQADLRRVLLRLYHLYEVGEDPVLSQPVTVNLEAVLQALGSVVAVEERSLTGTWDLSMLHRWSWRTGPGRHRGDTTSPSRPPGGPIITVHPKEIRTFFIHFQQQ
uniprot
proteins
disease_involvement
DISEASE: Congenital disorder of glycosylation 1EE with or without immunodeficiency (CDG1EE) [MIM:621140]: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1EE is an autosomal recessive form characterized by severe developmental delay, dysmorphic facial features, and coagulopathy. Some patients have immune deficiency. {ECO:0000269|PubMed:31775018, ECO:0000269|PubMed:35637269, ECO:0000269|PubMed:38622837}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.2.1.24
uniprot
proteins
function
FUNCTION: Specifically cleaves terminal alpha 1,6-linked mannose residues on Man3GlcNAc and Man2GlcNAc core oligosaccharides generated by N-glycan degradation pathways, having little activity, if any, on larger mannose oligosaccharides (PubMed:1577805, PubMed:16115860). Does not cleave terminal alpha 1,6-linked mannose on Man3GlcNAc2, and is also unable to hydrolyze terminal alpha 1,3-mannose linkages (PubMed:1577805, PubMed:16115860). {ECO:0000269|PubMed:1577805, ECO:0000269|PubMed:16115860}.
uniprot
proteins
mass_dalton
113979
uniprot
proteins
protein_family
Glycosyl hydrolase 38 family
uniprot
proteins
pubmed
10231032
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1577805
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16115860
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
19722277
uniprot
proteins
pubmed
31775018
uniprot
proteins
pubmed
35637269
uniprot
proteins
pubmed
38622837
uniprot
proteins
sequence_length
1009
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:16115860}.
uniprot
proteins