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Gene

ALG12

ALG12 alpha-1,6-mannosyltransferase

Summary

Cytogenetic location
22q13.33
Coordinates
Chromosome 22: 49,900,229–49,918,438 (GRCh38)
Exons
10 exons across 18.2 kb
Protein
488 amino acids
Also known as
ECM39, CDG1G
MANE Select transcript
ENST00000330817.11NM_024105.4
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 report 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
        • 4 GenCC submitters rate it definitive or strong

    How ALG12 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 22, with a bracket where ALG12 sits. ALG12 and 18 genes near it on chromosome 22, from 49,409,334 to 50,409,333.Chromosome 2222q13.33p13p12p11.2p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.31q13.32q13.3349.6 Mb49.8 Mb50 Mb50.2 Mb50.4 MbBRD1: 49,773,278–49,827,946, reverse strandBRD1ZBED4: 49,853,827–49,897,383, forward strandZBED4ALG12: 49,900,229–49,918,438, reverse strandALG12CRELD2: 49,917,989–49,927,544, forward strandCRELD2PIM3: 49,956,491–49,991,795, forward strandPIM3IL17REL: 49,991,811–50,012,765, reverse strandIL17RELTTLL8: 50,018,575–50,058,298, reverse strandTTLL8MLC1: 50,059,391–50,085,969, reverse strandMLC1MOV10L1: 50,090,002–50,161,690, forward strandMOV10L1PANX2: 50,170,458–50,180,295, forward strandPANX2TRABD: 50,184,717–50,199,600, forward strandTRABDSELENOO: 50,200,994–50,217,616, forward strandSELENOOTUBGCP6: 50,217,621–50,245,033, reverse strandTUBGCP6HDAC10: 50,245,183–50,251,407, reverse strandHDAC10MAPK12: 50,245,186–50,261,851, reverse strandMAPK12MAPK11: 50,263,703–50,270,767, reverse strandPLXNB2: 50,274,976–50,307,695, reverse strandDENND6B: 50,308,989–50,327,661, reverse strandDENND6BPPP6R2: 50,330,659–50,445,090, forward strandPPP6R2Diagram of ALG12: 10 exons on the reverse strand of chromosome 22Exon 10: 3 known disease-causing sitesExon 8: 4 known disease-causing sitesExon 7: 4 known disease-causing sitesExon 6: 5 known disease-causing sitesExon 5: 3 known disease-causing sitesExon 4: 5 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 2: 4 known disease-causing sitesExon 10: 49,900,229–49,904,066, 3,838 basesExon 9: 49,904,179–49,904,254, 76 basesExon 8: 49,904,337–49,904,506, 170 basesExon 7: 49,907,721–49,907,944, 224 basesExon 6: 49,909,244–49,909,347, 104 basesExon 5: 49,909,894–49,910,088, 195 basesExon 4: 49,910,434–49,910,607, 174 basesExon 3: 49,913,385–49,913,517, 133 basesExon 2: 49,913,604–49,913,843, 240 basesExon 1: 49,918,263–49,918,438, 176 bases10864215′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 5.3 kb of the gene's 18.2 kb; 1,467 of those bases code for the protein.

    How a genome test reads ALG12

    38

    positions in ALG12 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 18.2 kb of ALG12, introns included, not only the 5.3 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.). ALG12 gene: ALG12 alpha-1,6-mannosyltransferase. Retrieved 17 October 2026, from https://dantelabs.com/genes/alg12

    Vancouver

    Dante Labs. ALG12 gene: ALG12 alpha-1,6-mannosyltransferase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/alg12

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