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Gene

MAN1B1

mannosidase alpha class 1B member 1

Summary

Cytogenetic location
9q34.3
Coordinates
Chromosome 9: 137,086,985–137,109,183 (GRCh38)
Exons
13 exons across 22.2 kb
Protein
699 amino acids
Also known as
MANA-ER, MRT15, ERManI, ERMan1
MANE Select transcript
ENST00000371589.9NM_016219.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

    • Congenital Disorders of Glycosylation

      • Congenital Disorders of Glycosylation (CDG)

        One of 98 genes linked to it

        A large group of inherited conditions in which sugar chains (glycans) are not correctly built or attached to proteins and lipids, often affecting the brain, liver, blood clotting, growth and many other body systems. Most are autosomal recessive, but some are X-linked or autosomal dominant.

        • ClinGen rates the link definitive
        • 1 GenCC submitter rates it definitive or strong

    • Intellectual Disability

      • One of 233 genes linked to it

        • 4 GenCC submitters rate it definitive or strong

    How MAN1B1 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 9, with a bracket where MAN1B1 sits. MAN1B1 and 61 genes near it on chromosome 9, from 136,598,084 to 137,598,083.Chromosome 99q34.3p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.3136.6 Mb136.8 Mb137 Mb137.2 Mb137.4 MbEGFL7: 136,658,284–136,672,684, forward strandEGFL7AGPAT2: 136,673,142–136,687,483, reverse strandAGPAT2DIPK1B: 136,712,302–136,724,742, forward strand: 136,738,167–136,748,453, reverse strandLCN10: 136,738,167–136,743,356, reverse strandLCN6: 136,744,017–136,748,531, reverse strandLCN6LCN8: 136,754,386–136,758,543, reverse strandLCN8LCN15: 136,759,634–136,766,255, reverse strandLCN15TMEM141: 136,791,303–136,793,317, forward strand: 136,791,379–136,800,595, forward strandCCDC183: 136,796,338–136,807,741, forward strandRABL6: 136,807,848–136,841,187, forward strandAJM1: 136,842,478–136,848,801, forward strandAJM1PHPT1: 136,847,994–136,851,043, forward strandPHPT1MAMDC4: 136,850,943–136,860,802, forward strandMAMDC4EDF1: 136,862,113–136,866,343, reverse strandEDF1TRAF2: 136,881,903–136,929,221, forward strandTRAF2FBXW5: 136,938,431–136,950,122, reverse strandC8G: 136,942,532–136,946,980, forward strandC8GLCN12: 136,949,391–136,956,535, forward strandPTGDS: 136,975,053–136,981,750, forward strand: 136,977,518–136,985,435, forward strandLCNL1: 136,981,904–136,986,410, forward strandLCNL1PAXX: 136,992,400–136,994,074, forward strandPAXXCLIC3: 136,994,608–136,996,729, reverse strandCLIC3ABCA2: 137,007,226–137,028,915, reverse strandFUT7: 137,030,174–137,032,825, reverse strand: 137,031,241–137,040,436, reverse strandNPDC1: 137,037,577–137,046,700, reverse strandENTPD2: 137,048,107–137,054,069, reverse strandENTPD2SAPCD2: 137,062,127–137,070,593, reverse strandSAPCD2UAP1L1: 137,077,470–137,084,544, forward strandUAP1L1MAN1B1: 137,086,985–137,109,183, forward strandMAN1B1DPP7: 137,110,540–137,118,309, reverse strandDPP7GRIN1: 137,138,346–137,168,765, forward strandGRIN1LRRC26: 137,168,758–137,170,058, reverse strandLRRC26: 137,168,854–137,171,984, reverse strandTMEM210: 137,170,858–137,172,056, reverse strandTMEM210ANAPC2: 137,174,784–137,189,028, reverse strandSSNA1: 137,188,640–137,190,371, forward strandTPRN: 137,191,617–137,204,193, reverse strandTMEM203: 137,204,082–137,205,648, reverse strandNDOR1: 137,205,662–137,219,371, forward strandRNF229: 137,217,494–137,219,361, forward strandRNF208: 137,219,577–137,222,312, reverse strandCYSRT1: 137,225,174–137,226,315, forward strandRNF224: 137,226,908–137,229,640, forward strandRNF224SLC34A3: 137,230,757–137,236,555, forward strandTUBB4B: 137,241,278–137,243,713, forward strandTUBB4BCIMIP2A: 137,243,584–137,247,770, reverse strandSTPG3: 137,250,608–137,253,483, forward strandNELFB: 137,255,210–137,273,542, forward strandNELFBTOR4A: 137,274,854–137,282,641, forward strandNRARP: 137,299,631–137,302,271, reverse strandNRARPEXD3: 137,306,894–137,423,911, reverse strandEXD3NOXA1: 137,422,752–137,434,451, forward strandNOXA1ENTPD8: 137,434,362–137,441,881, reverse strandENTPD8NSMF: 137,447,570–137,459,576, reverse strandNSMFPNPLA7: 137,459,952–137,550,560, reverse strandPNPLA7MRPL41: 137,550,424–137,552,555, forward strandMRPL41DPH7: 137,554,436–137,578,936, reverse strandDPH7ZMYND19: 137,582,066–137,590,520, reverse strandZMYND19Diagram of MAN1B1: 13 exons on the forward strand of chromosome 9Exon 1: 2 known disease-causing sitesExon 2: 1 known disease-causing siteExon 3: 2 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 5: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 7: 2 known disease-causing sitesExon 8: 7 known disease-causing sitesExon 9: 7 known disease-causing sitesExon 11: 2 known disease-causing sitesExon 12: 2 known disease-causing sitesExon 13: 3 known disease-causing sitesExon 1: 137,086,985–137,087,218, 234 basesExon 2: 137,088,075–137,088,183, 109 basesExon 3: 137,088,869–137,089,005, 137 basesExon 4: 137,096,237–137,096,391, 155 basesExon 5: 137,097,828–137,097,937, 110 basesExon 6: 137,099,696–137,099,881, 186 basesExon 7: 137,101,005–137,101,153, 149 basesExon 8: 137,101,484–137,101,672, 189 basesExon 9: 137,106,125–137,106,315, 191 basesExon 10: 137,106,689–137,106,809, 121 basesExon 11: 137,107,250–137,107,447, 198 basesExon 12: 137,107,531–137,107,662, 132 basesExon 13: 137,108,388–137,109,183, 796 bases124681012135′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 2.7 kb of the gene's 22.2 kb; 2,100 of those bases code for the protein.

    How a genome test reads MAN1B1

    35

    positions in MAN1B1 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 22.2 kb of MAN1B1, introns included, not only the 2.7 kb of exons.

    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

    APA

    Dante Labs. (n.d.). MAN1B1 gene: mannosidase alpha class 1B member 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/man1b1

    Vancouver

    Dante Labs. MAN1B1 gene: mannosidase alpha class 1B member 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/man1b1

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