Gene Gene information from NCBI Gene database.
Entrez ID 4126
Gene name Mannosidase beta
Gene symbol MANBA
Synonyms (NCBI Gene)
MANB1
Chromosome 4
Chromosome location 4q24
Summary This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated wi
SNPs SNP information provided by dbSNP.
15
SNP ID Visualize variation Clinical significance Consequence
rs121434334 A>G Pathogenic Missense variant, coding sequence variant
rs121434335 C>A,G,T Pathogenic Coding sequence variant, stop gained, missense variant, genic upstream transcript variant, 5 prime UTR variant
rs121434336 G>A,C Pathogenic Coding sequence variant, upstream transcript variant, stop gained, missense variant, genic upstream transcript variant
rs374545788 C>A Likely-pathogenic Splice acceptor variant
rs752343321 ->TCCCAACTAA Pathogenic Genic upstream transcript variant, coding sequence variant, stop gained, intron variant, inframe insertion
miRNA miRNA information provided by mirtarbase database.
43
miRTarBase ID miRNA Experiments Reference
MIRT017002 hsa-miR-335-5p Microarray 18185580
MIRT1127428 hsa-miR-1224-5p CLIP-seq
MIRT1127429 hsa-miR-1304 CLIP-seq
MIRT1127430 hsa-miR-3915 CLIP-seq
MIRT1127431 hsa-miR-4317 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0004553 Function Hydrolase activity, hydrolyzing O-glycosyl compounds IEA
GO:0004567 Function Beta-mannosidase activity IBA
GO:0004567 Function Beta-mannosidase activity IDA 30552791
GO:0004567 Function Beta-mannosidase activity IEA
GO:0004567 Function Beta-mannosidase activity TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609489 6831 ENSG00000109323
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00462
Protein name Beta-mannosidase (EC 3.2.1.25) (Lysosomal beta A mannosidase) (Mannanase) (Mannase)
Protein function Exoglycosidase that cleaves the single beta-linked mannose residue from the non-reducing end of all N-linked glycoprotein oligosaccharides.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02836 Glyco_hydro_2_C 340 574 Glycosyl hydrolases family 2, TIM barrel domain Domain
PF17786 Mannosidase_ig 700 795 Mannosidase Ig/CBM-like domain Domain
PF17753 Ig_mannosidase 799 878 Ig-fold domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Detected in pancreas, kidney and placenta, ands at lower levels in liver, lung, brain, heart and muscle. {ECO:0000269|PubMed:9384606}.
Sequence
MRLHLLLLLALCGAGTTAAELSYSLRGNWSICNGNGSLELPGAVPGCVHSALFQQGLIQD
SYYRFNDLNYRWVSLDNWTYSKEFKIPFEISKWQKVNLILEGVDTVSKILFNEVTIGETD
NMFNRYSFDITNVVRDVNSIELRFQSAVLYAAQQSKAHTRYQVPPDCPPLVQKGECHVNF
VRKEQCSFSWDWGPSFPTQGIWKDVRIEAYNICHLNYFTFSPIYDKSAQEWNLEIESTFD
VVSSKPVGGQVIVAIPKLQTQQTYSIELQPGKRIVELFVNISKNITVETWWPHGHGNQTG
YNMTVLFELDGGLNIEKSAKVYFRTVELIEEPIKGSPGLSFYFKINGFPIFLKGSNWIPA
DSFQDRVTSELLRLLLQSVVDANMNTLRVWGGGIYEQDEFYELCDELGIMVWQDFMFACA
LYPTDQGFLDSVTAEVAYQIKRLKSHPSIIIWSGNNENEEALMMNWYHISFTDRPIYIKD
YVTLYVKNIRELVLAGDKSRPFITSSPTNGAETVAEAWVSQNPNSNYFGDVHFYDYISDC
WNWKVFPKARFASEYGYQSWPSFSTLEKVSSTED
WSFNSKFSLHRQHHEGGNKQMLYQAG
LHFKLPQSTDPLRTFKDTIYLTQVMQAQCVKTETEFYRRSRSEIVDQQGHTMGALYWQLN
DIWQAPSWASLEYGGKWKMLHYFAQNFFAPLLPVGFENENTFYIYGVSDLHSDYSMTLSV
RVHTWSSLEPVCSRVTERFVMKGGEAVCLYEEPVSELLRRCGNCTRESCVVSFYLSADHE
LLSPTNYHFLSSPKE
AVGLCKAQITAIISQQGDIFVFDLETSAVAPFVWLDVGSIPGRFS
DNGFLMTEKTRTILFYPWEPTSKNELEQSFHVTSLTDI
Y
Sequence length 879
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Other glycan degradation
Lysosome
  Neutrophil degranulation
Lysosomal oligosaccharide catabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
41
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Beta-D-mannosidosis Likely pathogenic; Pathogenic rs779221957, rs1334537145, rs374377679, rs1411236177, rs776601022, rs1035305358, rs1309076303, rs760404534, rs371368353, rs890870104, rs752343321, rs1730296951, rs121434334, rs771587242, rs121434335
View all (74 more)
RCV001330145
RCV001726523
RCV001782416
RCV003864319
RCV001924819
View all (84 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastric cancer Pathogenic rs772852668 RCV005901867
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing impairment Pathogenic rs772852668 RCV001261779
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer Likely pathogenic rs767086387 RCV005934778
★★★★☆
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
Acute myeloid leukemia Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
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
Angiokeratoma Angiokeratoma HPO_DG
★☆☆☆☆
Found in Text Mining only
Asthma Asthma GWASCAT_DG 31619474
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation Atrial fibrillation Pubtator 37581400 Stimulate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation Atrial fibrillation Pubtator 37967346 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Attention Deficit Disorder with Hyperactivity Attention deficit hyperactivity disorder Pubtator 35052433 Associate
★☆☆☆☆
Found in Text Mining only
Attention Deficit Disorder with Hyperactivity Attention deficit hyperactivity disorder Pubtator 35306338 Inhibit
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder GWASCAT_DG 31619474
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder Autism Pubtator 37907504 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
beta-Mannosidosis Beta-Mannosidosis BEFREE 10594236, 11892998, 12890191, 17420068, 18565776, 1861455, 18980795, 19728872, 3128685, 9384606
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
beta-Mannosidosis Beta-Mannosidosis CLINVAR_DG 12468273, 17420068, 18565776, 19728872, 22369051, 30872814, 9384606
★★☆☆☆
Found in Text Mining + Unknown/Other Associations