Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4126
Gene name Gene Name - the full gene name approved by the HGNC.	Mannosidase beta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MANBA
Synonyms (NCBI Gene) Gene synonyms aliases	MANB1
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4q24
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(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
rs763849774	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs764364492	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs771587242	T>C	Pathogenic	5 prime UTR variant, coding sequence variant, synonymous variant, genic upstream transcript variant
rs771865668	C>T	Pathogenic	Coding sequence variant, stop gained
rs772852668	T>C	Pathogenic	Splice acceptor variant
rs775574131	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs890870104	C>T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1188116333	TA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553945794	C>T	Likely-pathogenic	Upstream transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs1553948361	G>C	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant

Show/Hide all(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
MIRT1127432	hsa-miR-4438	CLIP-seq
MIRT1127433	hsa-miR-4689	CLIP-seq
MIRT1127434	hsa-miR-4751	CLIP-seq
MIRT2565750	hsa-miR-1205	CLIP-seq
MIRT2565751	hsa-miR-1206	CLIP-seq
MIRT2565752	hsa-miR-1909	CLIP-seq
MIRT2565753	hsa-miR-23a	CLIP-seq
MIRT2565754	hsa-miR-23b	CLIP-seq
MIRT2565755	hsa-miR-23c	CLIP-seq
MIRT2565756	hsa-miR-3179	CLIP-seq
MIRT2565757	hsa-miR-320a	CLIP-seq
MIRT2565758	hsa-miR-320b	CLIP-seq
MIRT2565759	hsa-miR-320c	CLIP-seq
MIRT2565760	hsa-miR-320d	CLIP-seq
MIRT2565761	hsa-miR-370	CLIP-seq
MIRT2565762	hsa-miR-3918	CLIP-seq
MIRT2565763	hsa-miR-4429	CLIP-seq
MIRT2565764	hsa-miR-4529-5p	CLIP-seq
MIRT2565765	hsa-miR-578	CLIP-seq
MIRT2565766	hsa-miR-582-3p	CLIP-seq
MIRT2565767	hsa-miR-643	CLIP-seq
MIRT2565750	hsa-miR-1205	CLIP-seq
MIRT2565751	hsa-miR-1206	CLIP-seq
MIRT2565752	hsa-miR-1909	CLIP-seq
MIRT2565753	hsa-miR-23a	CLIP-seq
MIRT2565754	hsa-miR-23b	CLIP-seq
MIRT2565755	hsa-miR-23c	CLIP-seq
MIRT2565757	hsa-miR-320a	CLIP-seq
MIRT2565758	hsa-miR-320b	CLIP-seq
MIRT2565759	hsa-miR-320c	CLIP-seq
MIRT2565760	hsa-miR-320d	CLIP-seq
MIRT2565761	hsa-miR-370	CLIP-seq
MIRT2565762	hsa-miR-3918	CLIP-seq
MIRT2565763	hsa-miR-4429	CLIP-seq
MIRT2565764	hsa-miR-4529-5p	CLIP-seq
MIRT2565765	hsa-miR-578	CLIP-seq
MIRT2565766	hsa-miR-582-3p	CLIP-seq
MIRT2565767	hsa-miR-643	CLIP-seq

Show/Hide all(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
GO:0005764	Component	Lysosome	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006516	Process	Glycoprotein catabolic process	IBA
GO:0006516	Process	Glycoprotein catabolic process	ISS
GO:0009313	Process	Oligosaccharide catabolic process	TAS
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0035577	Component	Azurophil granule membrane	TAS
GO:0036211	Process	Protein modification process	NAS	9384606
GO:0043202	Component	Lysosomal lumen	TAS

MIM	HGNC	e!Ensembl
609489	6831	ENSG00000109323

Protein

UniProt ID

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
WNWKVFPKARFASEYGYQSWPSFSTLEKVSSTEDWSFNSKFSLHRQHHEGGNKQMLYQAG
LHFKLPQSTDPLRTFKDTIYLTQVMQAQCVKTETEFYRRSRSEIVDQQGHTMGALYWQLN
DIWQAPSWASLEYGGKWKMLHYFAQNFFAPLLPVGFENENTFYIYGVSDLHSDYSMTLSV
RVHTWSSLEPVCSRVTERFVMKGGEAVCLYEEPVSELLRRCGNCTRESCVVSFYLSADHE
LLSPTNYHFLSSPKEAVGLCKAQITAIISQQGDIFVFDLETSAVAPFVWLDVGSIPGRFS
DNGFLMTEKTRTILFYPWEPTSKNELEQSFHVTSLTDIY

Sequence length

879

Interactions

View interactions

	KEGG		Reactome
	Other glycan degradation Lysosome		Neutrophil degranulation Lysosomal oligosaccharide catabolism

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Beta-Mannosidosis	Beta-D-mannosidosis	rs890870104, rs1341763493, rs752343321, rs764364492, rs1730296951, rs1553948361, rs121434334, rs142029636, rs771587242, rs772852668, rs121434335, rs121434336, rs771865668, rs1188116333, rs763849774 View all (4 more)	N/A
hearing impairment	Hearing impairment	rs772852668	N/A

Show/Hide Unknown Diseases (9)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Atrial Fibrillation	Atrial fibrillation	N/A	N/A	GWAS
Attention Deficit Hyperactivity Disorder	Attention deficit hyperactivity disorder	N/A	N/A	GWAS
Biliary Cholangitis	Primary biliary cholangitis	N/A	N/A	GWAS
Biliary Cirrhosis	Primary biliary cirrhosis	N/A	N/A	GWAS
Diabetes	Type 2 diabetes (PheCode 250.2)	N/A	N/A	GWAS
Multiple Sclerosis	Multiple sclerosis	N/A	N/A	GWAS
Psoriasis	Psoriasis	N/A	N/A	GWAS
Sarcoidosis	Sarcoidosis	N/A	N/A	GWAS
Sclerosing Cholangitis	Primary sclerosing cholangitis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (26)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Atrial Fibrillation	Stimulate	37581400
Atrial Fibrillation	Associate	37967346
Attention Deficit Disorder with Hyperactivity	Associate	35052433
Attention Deficit Disorder with Hyperactivity	Inhibit	35306338
Autism Spectrum Disorder	Associate	37907504
beta Mannosidosis	Associate	19728872, 30886116, 32847582
beta Mannosidosis	Inhibit	19728872
Cholangitis Sclerosing	Associate	36828809
Deafness	Associate	32847582
Digestive System Diseases	Associate	30528300
Disease	Associate	30528300
Hearing Loss	Associate	30872814, 32847582
Inflammation	Associate	30872814
Intellectual Disability	Associate	30872814, 32847582
Leukoencephalopathies	Associate	19728872
Liver Cirrhosis Biliary	Associate	30528300
Lysosomal Storage Diseases	Associate	25741867
Mental Disorders	Associate	30872814
Multiple Sclerosis	Associate	23739915
Neoplastic Syndromes Hereditary	Associate	32847582
Neurologic Manifestations	Associate	19728872
Nystagmus 2 congenital autosomal dominant	Associate	25741867
Nystagmus Pathologic	Associate	25741867
Oculomotor Nerve Diseases	Associate	25741867
Sarcoidosis	Associate	26051272
X Linked Infantile Nystagmus	Associate	25741867

MANBA (mannosidase beta)