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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MANBA
mannosidase beta
Chromosome 4 Β· 4q24
NCBI Gene: 4126Ensembl: ENSG00000109323.12HGNC: HGNC:6831UniProt: O00462
54PubMed Papers
21Diseases
0Drugs
109Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
beta-mannosidase activityglycoprotein catabolic processlysosomal lumenplasma membranebeta-mannosidosisprimary biliary cirrhosisHypercholesterolemiaobesity
✦AI Summary

MANBA encodes a lysosomal exoglycosidase that cleaves beta-linked mannose residues from N-linked glycoprotein oligosaccharides, functioning in glycoprotein catabolism and lysosomal protein modification 1. The enzyme is highly expressed in kidney tubule cells and plays critical roles in endolysosomal function, including endocytosis and autophagy pathways 1. Disease relevance is broad: homozygous loss-of-function MANBA variants cause beta-mannosidosis, a lysosomal storage disorder presenting with hearing loss and mental retardation, particularly prevalent in Central European Roma populations (c.2158-2A>G variant frequency of 3.77% in Roma carriers) 2. Heterozygous loss-of-function variants increase renal failure incidence and associate with chr4 kidney disease (CKD) susceptibility; MANBA expression is reduced in kidneys carrying CKD risk alleles, and Manba-deficient mice develop severe kidney fibrosis upon toxic injury 1. Additionally, the MS-risk polymorphism rs7665090 reduces MANBA expression and enzymatic activity in lymphocytes, correlating with lysosomal dysfunction and impaired metabolic activation 3. MANBA variants also associate with primary biliary cholangitis susceptibility through transcription factor-regulated gene expression 4 and represent candidate biomarkers in myocardial infarction pathogenesis 5. Recurrent structural alterations at the MANBA locus occur in pediatric acute lymphoblastic leukemia 6.

Sources cited
1
MANBA is a lysosomal beta-mannosidase highly expressed in kidney tubule cells; reduced expression associates with CKD risk genotypes; loss-of-function variants increase renal failure incidence and alter endocytosis and autophagy pathways
PMID: 33441424
2
Homozygous MANBA variant c.2158-2A>G causes beta-mannosidosis with hearing loss and mental retardation; prevalence of 3.77% in Czech and Slovak Roma populations
PMID: 32847582
3
MS-risk polymorphism rs7665090 reduces MANBA expression and enzymatic activity in lymphocytes, correlating with lysosomal dysfunction and decreased metabolic activation
PMID: 35897697
4
MANBA variants confer susceptibility to primary biliary cholangitis through transcription factor binding and regulated gene expression
PMID: 30528300
5
MANBA identified as a key protein associated with myocardial infarction through machine learning analysis of proteomics and transcriptomics data
PMID: 40467768
6
MANBA locus at 4q24 shows recurrent structural alterations in pediatric acute lymphoblastic leukemia detected by optical genome mapping
PMID: 37469802
7
MANBA gene variants associate with CKD and kidney function-related traits; high MANBA expression in minor allele carriers correlates with decreased CKD risk
PMID: 34070965
Disease Associationsβ“˜21
beta-mannosidosisOpen Targets
0.83Strong
primary biliary cirrhosisOpen Targets
0.41Moderate
HypercholesterolemiaOpen Targets
0.36Weak
obesityOpen Targets
0.31Weak
cataractOpen Targets
0.30Weak
diabetes mellitusOpen Targets
0.30Weak
allergic diseaseOpen Targets
0.29Weak
Hearing impairmentOpen Targets
0.29Weak
systemic lupus erythematosusOpen Targets
0.28Weak
biliary liver cirrhosisOpen Targets
0.27Weak
skin diseaseOpen Targets
0.27Weak
diabetic neuropathyOpen Targets
0.26Weak
heart diseaseOpen Targets
0.25Weak
Abnormal mastoid morphologyOpen Targets
0.25Weak
middle ear disorderOpen Targets
0.25Weak
overnutritionOpen Targets
0.25Weak
morbid obesityOpen Targets
0.24Weak
splenic diseaseOpen Targets
0.23Weak
allergic rhinitisOpen Targets
0.21Weak
atrial fibrillationOpen Targets
0.19Weak
Mannosidosis, beta A, lysosomalUniProt
Pathogenic Variants109
NM_005908.4(MANBA):c.1540_1541del (p.Val514fs)Pathogenic
Beta-D-mannosidosis|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 514
NM_005908.4(MANBA):c.960+1G>APathogenic
Beta-D-mannosidosis|not provided
β˜…β˜…β˜†β˜†2026
NM_005908.4(MANBA):c.1704+1G>TLikely pathogenic
Beta-D-mannosidosis
β˜…β˜…β˜†β˜†2026
NM_005908.4(MANBA):c.2175dup (p.Ser726fs)Pathogenic
Beta-D-mannosidosis
β˜…β˜…β˜†β˜†2025β†’ Residue 726
NM_005908.4(MANBA):c.1318-1G>TLikely pathogenic
not provided|Beta-D-mannosidosis
β˜…β˜…β˜†β˜†2025
NM_005908.4(MANBA):c.916del (p.Leu306fs)Pathogenic
Beta-D-mannosidosis
β˜…β˜…β˜†β˜†2025β†’ Residue 306
NM_005908.4(MANBA):c.1452_1453del (p.Tyr485fs)Pathogenic
not provided|Beta-D-mannosidosis
β˜…β˜…β˜†β˜†2025β†’ Residue 485
NM_005908.4(MANBA):c.693G>A (p.Trp231Ter)Pathogenic
Beta-D-mannosidosis
β˜…β˜…β˜†β˜†2025β†’ Residue 231
NM_005908.4(MANBA):c.550-1G>ALikely pathogenic
Beta-D-mannosidosis|not provided
β˜…β˜…β˜†β˜†2025
NM_005908.4(MANBA):c.1753C>T (p.Arg585Ter)Pathogenic
Beta-D-mannosidosis
β˜…β˜…β˜†β˜†2025β†’ Residue 585
NM_005908.4(MANBA):c.378+1G>ALikely pathogenic
Beta-D-mannosidosis
β˜…β˜…β˜†β˜†2025
NM_005908.4(MANBA):c.563_572dup (p.Asp191_Trp192insTer)Pathogenic
Beta-D-mannosidosis|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 191
NM_005908.4(MANBA):c.1648C>T (p.Arg550Ter)Pathogenic
Beta-D-mannosidosis
β˜…β˜…β˜†β˜†2024β†’ Residue 550
NM_005908.4(MANBA):c.375A>G (p.Arg125=)Pathogenic
Beta-D-mannosidosis
β˜…β˜…β˜†β˜†2024β†’ Residue 125
NM_005908.4(MANBA):c.544C>T (p.Arg182Trp)Pathogenic
Beta-D-mannosidosis|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 182
NM_005908.4(MANBA):c.2158-2A>GPathogenic
Beta-D-mannosidosis|Hearing impairment|not provided|Gastric cancer
β˜…β˜…β˜†β˜†2024
NM_005908.4(MANBA):c.692G>A (p.Trp231Ter)Pathogenic
Beta-D-mannosidosis
β˜…β˜…β˜†β˜†2024β†’ Residue 231
NM_005908.4(MANBA):c.210_213delinsTCTGTAGTTAAGAGACCCATCTG (p.Arg71delinsLeuTer)Likely pathogenic
MANBA-related disorder|Beta-D-mannosidosis
β˜…β˜…β˜†β˜†2024β†’ Residue 71
NM_005908.4(MANBA):c.1434del (p.Lys479fs)Pathogenic
Beta-D-mannosidosis
β˜…β˜…β˜†β˜†2024β†’ Residue 479
NM_005908.4(MANBA):c.177+2T>CPathogenic
Beta-D-mannosidosis
β˜…β˜…β˜†β˜†2024
View on ClinVar β†—
Related Genes
SGSHProtein interaction90%FABP2Protein interaction76%MAN2C1Protein interaction76%MAN2B1Protein interaction76%GLAProtein interaction71%MAN2B2Shared pathway60%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
59%
Ovary
39%
Heart
31%
Liver
26%
Brain
18%
Gene Interaction Network
Click a node to explore
MANBASGSHFABP2MAN2C1MAN2B1GLAMAN2B2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O00462
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.83LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.65 [0.51–0.83]
RankingsWhere MANBA stands among ~20K protein-coding genes
  • #8,330of 20,598
    Most Researched54
  • #720of 5,498
    Most Pathogenic Variants109 Β· top quartile
  • #7,026of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedMANBA
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Association between
PMID: 34070965
J Clin Med Β· 2021
1.00
2
Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant.
PMID: 32847582
Orphanet J Rare Dis Β· 2020
0.90
3
NFKB1 and MANBA Confer Disease Susceptibility to PrimaryΒ Biliary Cholangitis via Independent Putative PrimaryΒ FunctionalΒ Variants.
PMID: 30528300
Cell Mol Gastroenterol Hepatol Β· 2019
0.80
4
Identification of key proteins and pathways in myocardial infarction using machine learning approaches.
PMID: 40467768
Sci Rep Β· 2025
0.70
5
Kidney disease genetic risk variants alter lysosomal beta-mannosidase (
PMID: 33441424
Sci Transl Med Β· 2021
0.60