ALG12 Gene

HGNC Family	Glycosyltransferases
Name	ALG12, alpha-1,6-mannosyltransferase
Description	This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n ALG12 encodes a highly conserved dolichol‐P‐mannose:Man<sub>7</sub>GlcNAc<sub>2</sub>‐PP‐dolichol α6‐mannosyltransferase that catalyzes the incorporation of the eighth mannose residue onto the lipid‐linked oligosaccharide precursor during protein N‐glycosylation in the endoplasmic reticulum. This step is essential for the assembly of the complete Glc<sub>3</sub>Man<sub>9</sub>GlcNAc<sub>2</sub> structure required for proper protein folding, quality control, and intracellular trafficking. Defects in ALG12 result in the accumulation of truncated glycan intermediates and are causative of congenital disorders of glycosylation type Ig (ALG12‐CDG), which are characterized by multisystem manifestations including immunodeficiency, developmental delay, neurological abnormalities, and skeletal dysplasias. Detailed biochemical and genetic analyses have demonstrated that mutations in ALG12 markedly impair enzyme activity, thereby affecting not only proper N‐glycan formation but, in some cases, also influencing other glycosylation pathways. In addition, emerging work on the transcriptional regulation of ALG12—including its organization in bidirectional gene pairs—suggests that its expression may be modulated under conditions of endoplasmic reticulum stress. Overall, the function of ALG12 is central to the assembly of the oligosaccharide precursor in the dolichol pathway, and its impairment underscores a critical mechanism underlying the pathogenesis of ALG12‐CDG."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "7"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Isabelle Chantret, Thierry Dupré, Christophe Delenda, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M203285200"}], "href": "https://doi.org/10.1074/jbc.M203285200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11983712"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11983712"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "S J Grimme, B A Westfall, J M Wiedman, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The essential Smp3 protein is required for addition of the side-branching fourth mannose during assembly of yeast glycosylphosphatidylinositols."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2001)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M101986200"}], "href": "https://doi.org/10.1074/jbc.M101986200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11356840"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11356840"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Jana Ziburová, Marek Nemčovič, Sergej Šesták, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.62474"}], "href": "https://doi.org/10.1002/ajmg.a.62474"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34467644"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34467644"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Takuya Hiraide, Yoshinao Wada, Tomoko Matsubayashi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain Dev (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.braindev.2021.05.013"}], "href": "https://doi.org/10.1016/j.braindev.2021.05.013"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34092405"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34092405"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Kentaro Oh-Hashi, Tomomi Tejima, Yoko Hirata, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Characterization of the 5'-flanking region of the mouse asparagine-linked glycosylation 12 homolog gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Mol Biol Lett (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.2478/s11658-013-0091-2"}], "href": "https://doi.org/10.2478/s11658-013-0091-2"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23818223"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23818223"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Ewa Zdebska, Brigitte Bader-Meunier, Pierre-Olivier Schischmanoff, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pediatr Res (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1203/01.PDR.0000072327.55955.F7"}], "href": "https://doi.org/10.1203/01.PDR.0000072327.55955.F7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12736397"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12736397"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Luisa Sturiale, Sebastiano Bianca, Domenico Garozzo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ALG12-CDG: novel glycophenotype insights endorse the molecular defect."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Glycoconj J (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10719-019-09890-2"}], "href": "https://doi.org/10.1007/s10719-019-09890-2"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31529350"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31529350"}]}]}]}
Synonyms	ECM39, HALG12, CDG1G, PP14673
Proteins	ALG12_HUMAN
NCBI Gene ID	79087
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

ALG12 has 5,101 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 115 datasets.

Click the + buttons to view associations for ALG12 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

ALG12 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by ALG12 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ALG12 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of ALG12 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of ALG12 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of ALG12 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ALG12 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of ALG12 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ALG12 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ALG12 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of ALG12 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of ALG12 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of ALG12 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with ALG12 protein from the CCLE Cell Line Proteomics dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of ALG12 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of ALG12 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of ALG12 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with ALG12 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with ALG12 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of ALG12 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing ALG12 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing ALG12 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with ALG12 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with ALG12 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of ALG12 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with ALG12 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with ALG12 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of ALG12 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by ALG12 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving ALG12 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving ALG12 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with ALG12 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with ALG12 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with ALG12 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with ALG12 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with ALG12 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at ALG12 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of ALG12 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of ALG12 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing ALG12 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of ALG12 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.