Gene Gene information from NCBI Gene database.
Entrez ID 23324
Gene name Mannosidase alpha class 2B member 2
Gene symbol MAN2B2
Synonyms (NCBI Gene)
CDG1EEEpMAN
Chromosome 4
Chromosome location 4p16.1
miRNA miRNA information provided by mirtarbase database.
248
miRTarBase ID miRNA Experiments Reference
MIRT695684 hsa-miR-106a-5p HITS-CLIP 23313552
MIRT695683 hsa-miR-106b-5p HITS-CLIP 23313552
MIRT695682 hsa-miR-17-5p HITS-CLIP 23313552
MIRT695681 hsa-miR-20a-5p HITS-CLIP 23313552
MIRT695680 hsa-miR-20b-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0004559 Function Alpha-mannosidase activity IBA
GO:0004559 Function Alpha-mannosidase activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005576 Component Extracellular region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618899 29623 ENSG00000013288
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y2E5
Protein name Epididymis-specific alpha-mannosidase (EC 3.2.1.24) (Alpha-1,6-mannosidase) (Mannosidase alpha class 2B member 2)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01074 Glyco_hydro_38N 28 351 Glycosyl hydrolases family 38 N-terminal domain Domain
PF09261 Alpha-mann_mid 356 456 Alpha mannosidase middle domain Domain
PF07748 Glyco_hydro_38C 583 800 Glycosyl hydrolases family 38 C-terminal domain Domain
PF17677 Glyco_hydro38C2 896 1003 Glycosyl hydrolases family 38 C-terminal beta sandwich domain Domain
Sequence
MGQLCWLPLLAPLLLLRPPGVQSAGPIRAFVVPHSHMDVGWVYTVQESMRAYAANVYTSV
VEELARGQQRRFIAVEQEFFRLWWDGVASDQQKYQVRQLLEEGRLEFVIGGQVMHDEAVT
HLDDQILQLTEGHGFLYETFGIRPQFSWHVDPFGASATTPTLFALAGFNAHLGSRIDYDL
KAAMQEARGLQFVWRGSPSLSERQEIFTHIMDQYSYCTPSHIPFSNRSGFYWNGVAVFPK
PPQDGVYPNMSEPVTPANINLYAEALVANVKQRAAWFRTPHVLWPWGCDKQFFNASVQFA
NMDPLLDHINSHAAELGVSVQYATLGDYFRALHALNVTWRVRDHHDFLPYS
TEPFQAWTG
FYTSRSSLKGLARRASALLYAGESMFTRYLWPAPRGHLDPTWALQQLQQLRWAVSEVQHH
DAITGTESPKVRDMYATHLASGMLGMRKLMASIVLD
ELQPQAPMAASSDAGPAGHFASVY
NPLAWTVTTIVTLTVGFPGVRVTDEAGHPVPSQIQNSTETPSAYDLLILTTIPGLSYRHY
NIRPTAGAQEGTQEPAATVASTLQFGRRLRRRTSHAGRYLVPVANDCYIVLLDQDTNLMH
SIWERQSNRTVRVTQEFLEYHVNGDVKQGPISDNYLFTPGKAAVPAWEAVEMEIVAGQLV
TEIRQYFYRNMTAQNYTYAIRSRLTHVPQGHDGELLCHRIEQEYQAGPLELNREAVLRTS
TNLNSQQVIYSDNNGYQMQRRPYVSYVNNSIARNYYPMVQSAFMEDGKSRLVLLSERAHG
ISSQGNGQVEVMLHRRLWNN
FDWDLGYNLTLNDTSVVHPVLWLLLGSWSLTTALRQRSAL
ALQHRPVVLFGDLAGTAPKLPGPQQQEAVTLPPNLHLQILSIPGWRYSSNHTEHSQNLRK
GHRGEAQADLRRVLLRLYHLYEVGEDPVLSQPVTVNLEAVLQALGSVVAVEERSLTGTWD
LSMLHRWSWRTGPGRHRGDTTSPSRPPGGPIITVHPKEIRTFF
IHFQQQ
Sequence length 1009
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Other glycan degradation   Lysosomal oligosaccharide catabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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)
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
Cervical cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1EE with or without immunodeficiency Uncertain significance ClinVar
ClinVar, HPO
ClinVar, HPO
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
CONGENITAL DISORDERS OF GLYCOSYLATION Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Cerebrovascular accident Stroke BEFREE 31775018
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 32020674 Associate
★☆☆☆☆
Found in Text Mining only
Immunologic Deficiency Syndromes Immunologic Deficiency Syndromes BEFREE 31775018
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 32020674 Associate
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach neoplasms Pubtator 32020674 Associate
★☆☆☆☆
Found in Text Mining only