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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

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

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

738

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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 RCV001870727 RCV001953560 RCV002029701 RCV001915943 RCV000001744 RCV000001745 RCV000001746 RCV000001747 RCV000001748 RCV000001749 RCV000001750 RCV000001751 RCV003497945 RCV002281766 RCV002308599 RCV003060535 RCV002592144 RCV002725655 RCV002741680 RCV002928622 RCV002966964 RCV003013894 RCV003031920 RCV003226772 RCV003387494 RCV005036775 RCV003498005 RCV003498822 RCV003498838 RCV003498962 RCV003499529 RCV003499728 RCV003499248 RCV003499250 RCV003499705 RCV003497742 RCV003497457 RCV003497621 RCV003497785 RCV003498613 RCV003600647 RCV003600649 RCV003600700 RCV003601553 RCV003602259 RCV003602288 RCV003602185 RCV003602123 RCV003602175 RCV003602419 RCV003602370 RCV003602501 RCV003602390 RCV003600094 RCV003599979 RCV003600012 RCV003600149 RCV003600894 RCV003601035 RCV003600978 RCV003601114 RCV003601155 RCV003601099 RCV003601309 RCV003601951 RCV003816126 RCV003865407 RCV003856341 RCV003866662 RCV003874596 RCV004527514 RCV004566400 RCV001375175 RCV000691116 RCV000652551 RCV000652550 RCV001861694 RCV002531373 RCV000709926 RCV000754553 RCV001356140 RCV000780390 RCV005056874 RCV001194223
Gastric cancer	Pathogenic	rs772852668	RCV005901867
Hearing impairment	Pathogenic	rs772852668	RCV001261779
Lung cancer	Likely pathogenic	rs767086387	RCV005934778
MANBA-related disorder	Likely pathogenic; Pathogenic	rs2476919187, rs1266964950, rs771865668	RCV003404307 RCV003429116 RCV003404479 RCV003392564
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs1334537145	RCV005912569

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign	rs753271164	RCV005928180
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs34754408	RCV005897747
Colon adenocarcinoma	Uncertain significance	rs375466384	RCV005913879
Colorectal cancer	Benign; Likely benign	rs149687835	RCV005913510
Familial cancer of breast	Benign	rs34754408	RCV005897740
Familial pancreatic carcinoma	Benign	rs34754408	RCV005897743
Hepatocellular carcinoma	Benign	rs758862876	RCV005869957
Intellectual disability	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	rs375466384, rs370834102, rs1729558557, rs569997475, rs746340334, rs1424334315	RCV001252565 RCV001252570 RCV001252569 RCV001252566 RCV001252568 RCV001252567
Lymphoma	Benign	rs34754408	RCV005897744
Malignant tumor of urinary bladder	Benign; Likely benign	rs149687835	RCV005913508
Meniere disease	Uncertain significance; Conflicting classifications of pathogenicity	rs536744758, rs147542645, rs140692906, rs569997475	RCV004571614 RCV004571983 RCV004570327 RCV004570645
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs34754408, rs149687835	RCV005897741 RCV005913509
Ovarian cancer	Benign	rs34754408	RCV005897742
Sarcoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs149687835, rs145367849	RCV005913511 RCV005904689
Thymoma	Benign; Conflicting classifications of pathogenicity	rs34754408, rs145367849	RCV005897745 RCV005904690
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs149687835	RCV005913512
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs34754408, rs149687835	RCV005897746 RCV005913513

Show/Hide Text Mining Associations (26)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)