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Gene

MAN2B1

mannosidase alpha class 2B member 1

Summary

Cytogenetic location
19p13.13
Coordinates
Chromosome 19: 12,646,512–12,666,742 (GRCh38)
Exons
24 exons across 20.2 kb
Protein
1,011 amino acids
Also known as
LAMAN
Previous symbols
MANB
MANE Select transcript
ENST00000456935.7NM_000528.4
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated reports relevant to this gene

  • Alpha-Mannosidosis and Other Glycoproteinoses

    • Alpha-mannosidosisAutosomal recessive

      Hearing loss, intellectual disability, coarse features, skeletal changes and frequent infections, caused by MAN2B1 variants.

      • ClinGen rates the link definitive
      • 8 GenCC submitters rate it definitive or strong
      Actionability

      Enzyme replacement therapy (velmanase alfa) is available for non-neurological features, and stem cell transplant is an option in some children.

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
      • 8 GenCC submitters rate it definitive or strong

How MAN2B1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 19, with a bracket where MAN2B1 sits. MAN2B1 and 50 genes near it on chromosome 19, from 12,156,627 to 13,156,626.Chromosome 1919p13.13p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4312.2 Mb12.4 Mb12.6 Mb12.8 Mb13 MbZNF625-ZNF20: 12,132,117–12,156,731, reverse strandZNF625-ZNF20ZNF625: 12,142,088–12,156,832, reverse strandZNF625ZNF136: 12,163,052–12,189,871, forward strandZNF136ZNF44: 12,224,686–12,294,883, reverse strandZNF44ZNF563: 12,317,477–12,333,723, reverse strandZNF563ZNF442: 12,345,944–12,365,905, reverse strandZNF442ZNF799: 12,390,016–12,401,280, reverse strandZNF799: 12,391,949–12,441,082, reverse strandZNF443: 12,429,706–12,441,021, reverse strandZNF443: 12,433,103–12,484,816, reverse strandZNF709: 12,461,184–12,513,854, reverse strandZNF709: 12,461,559–12,551,474, reverse strandZNF564: 12,524,903–12,551,542, reverse strandZNF564: 12,525,720–12,580,975, reverse strandZNF490: 12,575,832–12,640,098, reverse strandZNF791: 12,610,916–12,633,840, forward strand: 12,643,831–12,648,397, reverse strandMAN2B1: 12,646,512–12,666,742, reverse strandMAN2B1: 12,664,828–12,669,397, reverse strandWDR83: 12,666,802–12,675,832, forward strandWDR83WDR83OS: 12,668,065–12,669,467, reverse strandWDR83OS: 12,668,071–12,681,834, reverse strandDHPS: 12,673,411–12,681,901, reverse strandFBXW9: 12,687,801–12,696,659, reverse strandGNG14: 12,687,998–12,688,422, forward strandTNPO2: 12,699,111–12,724,011, reverse strandTRIR: 12,730,640–12,734,747, reverse strandTRIRGET3: 12,737,139–12,748,325, forward strandGET3BEST2: 12,751,673–12,758,458, forward strandBEST2HOOK2: 12,762,640–12,872,740, reverse strandJUNB: 12,791,486–12,793,315, forward strandJUNBPRDX2: 12,796,817–12,801,882, reverse strandPRDX2THSD8: 12,802,031–12,813,581, forward strandTHSD8RNASEH2A: 12,806,505–12,813,644, forward strandRTBDN: 12,825,477–12,838,362, reverse strandMAST1: 12,833,860–12,874,952, forward strandMAST1DNASE2: 12,875,209–12,881,595, reverse strandDNASE2KLF1: 12,884,405–12,887,201, reverse strandKLF1GCDH: 12,891,128–12,915,261, forward strandGCDHSYCE2: 12,898,786–12,919,306, reverse strandSYCE2FARSA: 12,921,138–12,934,037, reverse strandCALR: 12,938,578–12,944,525, forward strandCALRRAD23A: 12,945,716–12,953,646, forward strandGADD45GIP1: 12,950,701–12,957,333, reverse strandDAND5: 12,965,159–12,974,760, forward strandDAND5NFIX: 12,995,401–13,098,796, forward strandNFIXLYL1: 13,099,028–13,103,188, reverse strandLYL1TRMT1: 13,104,899–13,117,567, reverse strandTRMT1NACC1: 13,116,468–13,141,147, forward strandNACC1STX10: 13,144,058–13,150,383, reverse strandSTX10IER2: 13,150,403–13,156,981, forward strandIER2Diagram of MAN2B1: 24 exons on the reverse strand of chromosome 19Exon 24: 4 known disease-causing sitesExon 23: 5 known disease-causing sitesExon 22: 19 known disease-causing sitesExon 21: 26 known disease-causing sitesExon 20: 9 known disease-causing sitesExon 19: 9 known disease-causing sitesExon 18: 8 known disease-causing sitesExon 17: 11 known disease-causing sitesExon 16: 13 known disease-causing sitesExon 15: 6 known disease-causing sitesExon 14: 17 known disease-causing sitesExon 13: 6 known disease-causing sitesExon 12: 10 known disease-causing sitesExon 11: 16 known disease-causing sitesExon 10: 7 known disease-causing sitesExon 9: 18 known disease-causing sitesExon 8: 7 known disease-causing sitesExon 7: 6 known disease-causing sitesExon 6: 9 known disease-causing sitesExon 5: 13 known disease-causing sitesExon 4: 22 known disease-causing sitesExon 3: 14 known disease-causing sitesExon 2: 16 known disease-causing sitesExon 1: 13 known disease-causing sitesExon 24: 12,646,512–12,646,732, 221 basesExon 23: 12,647,233–12,647,335, 103 basesExon 22: 12,647,443–12,647,598, 156 basesExon 21: 12,648,175–12,648,402, 228 basesExon 20: 12,649,136–12,649,216, 81 basesExon 19: 12,649,341–12,649,428, 88 basesExon 18: 12,649,913–12,650,014, 102 basesExon 17: 12,650,104–12,650,222, 119 basesExon 16: 12,652,153–12,652,270, 118 basesExon 15: 12,652,363–12,652,460, 98 basesExon 14: 12,655,694–12,655,879, 186 basesExon 13: 12,656,571–12,656,687, 117 basesExon 12: 12,656,949–12,657,056, 108 basesExon 11: 12,657,446–12,657,555, 110 basesExon 10: 12,658,063–12,658,141, 79 basesExon 9: 12,658,224–12,658,344, 121 basesExon 8: 12,658,428–12,658,510, 83 basesExon 7: 12,661,260–12,661,376, 117 basesExon 6: 12,663,317–12,663,462, 146 basesExon 5: 12,663,703–12,663,835, 133 basesExon 4: 12,664,792–12,664,985, 194 basesExon 3: 12,665,352–12,665,525, 174 basesExon 2: 12,665,703–12,665,805, 103 basesExon 1: 12,666,543–12,666,742, 200 bases24201510515′3′

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 3.2 kb of the gene's 20.2 kb; 3,036 of those bases code for the protein.

Sequencing MAN2B1

3Low

How hard MAN2B1 is to sequence with short reads, out of 100

  • Mappability0%
  • Homology0%
  • Repeats0%
  • GC content27%
  • Reference coverage0%

344

positions in MAN2B1 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 20.2 kb of MAN2B1, introns included, not only the 3.2 kb of exons.

Genes linked to the same conditions

Traits linked to MAN2B1

The Human Phenotype Ontology lists these as features of the rare conditions MAN2B1 can cause. Each trait's page lists the other genes linked to it.

External links

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 2026-10-17: 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 Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.18-e609d43e.

Cite this page

APA

Dante Labs. (n.d.). MAN2B1 gene: mannosidase alpha class 2B member 1. Retrieved 18 October 2026, from https://dantelabs.com/genes/man2b1

Vancouver

Dante Labs. MAN2B1 gene: mannosidase alpha class 2B member 1 [Internet]. [cited 18 October 2026]. Available from: https://dantelabs.com/genes/man2b1

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