Gene
MANBA
mannosidase beta
- HGNC 6831↗(opens in a new tab)
- Ensembl gene ENSG00000109323↗(opens in a new tab)
- NCBI Gene 4126↗(opens in a new tab)
Summary
- Cytogenetic location
- 4q24
- Coordinates
- Chromosome 4: 102,630,770–102,760,968 (GRCh38)
- Exons
- 17 exons across 130.2 kb
- Protein
- 879 amino acids
- Inheritance
- Autosomal recessive
- MANE Select transcript
- ENST00000647097.2NM_005908.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Alpha-Mannosidosis and Other Glycoproteinoses
- Beta-mannosidosisAutosomal recessive
Variable intellectual disability, hearing loss and behavioural problems, caused by MANBA variants.
- ClinGen rates the link definitive
- 6 GenCC submitters rate it definitive or strong
Broader groupings
Lysosomal Storage Disease
- Lysosomal storage disease (other and unspecified types)
One of 59 genes linked to it
Covers lysosomal storage diseases without a dedicated report, such as Farber disease and other ASAH1-related disorders, prosaposin (PSAP) deficiencies, multiple sulfatase deficiency, mucopolysaccharidosis types IX and X, and Dorfman-Chanarin disease; inheritance varies by subtype, most often autosomal recessive.
- ClinGen rates the link definitive
- 6 GenCC submitters rate it definitive or strong
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How MANBA is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 4 kb of the gene's 130.2 kb; 2,640 of those bases code for the protein.
How a genome test reads MANBA
101
positions in MANBA where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 130.2 kb of MANBA, introns included, not only the 4 kb of exons.
Genes linked to the same conditions
- ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferaseShares 1 condition
- AGAaspartylglucosaminidaseShares 1 condition
- AP5Z1adaptor related protein complex 5 subunit zeta 1Shares 1 condition
- ARSAarylsulfatase AShares 1 condition
- ARSBarylsulfatase BShares 1 condition
- ARSKarylsulfatase family member KShares 1 condition
- ASAH1N-acylsphingosine amidohydrolase 1Shares 1 condition
- CLCN6Cl-/H+ antiporter 6Shares 1 condition
- CLN3CLN3 lysosomal/endosomal transmembrane protein, batteninShares 1 condition
- CLN5CLN5 lysosomal BMP synthaseShares 1 condition
- CLN6CLN6 transmembrane ER proteinShares 1 condition
- CLN8CLN8 transmembrane ER and ERGIC proteinShares 1 condition
Traits linked to MANBA
The Human Phenotype Ontology lists these as features of the rare conditions MANBA can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). MANBA gene: mannosidase beta. Retrieved 17 October 2026, from https://dantelabs.com/genes/manba
Dante Labs. MANBA gene: mannosidase beta [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/manba
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