Identity
HGNC
LOCATION
22q13.33
LOCUSID
ALIAS
CDG1G,ECM39,PP14673,hALG12
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 79087
MIM: 607144
HGNC: 19358
Ensembl: ENSG00000182858
Variants:
dbSNP: 79087
ClinVar: 79087
TCGA: ENSG00000182858
COSMIC: ALG12
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000182858 | ENST00000330817 | Q9BV10 |
| ENSG00000182858 | ENST00000330817 | A0A024R4V6 |
| ENSG00000182858 | ENST00000486602 | H7C5R7 |
| ENSG00000182858 | ENST00000492791 | H7C4I6 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34092405 | 2021 | Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation. | 0 |
| 34467644 | 2021 | A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum. | 4 |
| 34092405 | 2021 | Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation. | 0 |
| 34467644 | 2021 | A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum. | 4 |
| 31529350 | 2019 | ALG12-CDG: novel glycophenotype insights endorse the molecular defect. | 10 |
| 31529350 | 2019 | ALG12-CDG: novel glycophenotype insights endorse the molecular defect. | 10 |
| 11983712 | 2002 | Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase. | 22 |
| 12093361 | 2002 | Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig. | 11 |
| 11983712 | 2002 | Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase. | 22 |
| 12093361 | 2002 | Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig. | 11 |
Citation
Dessen P
ALG12 (ALG12 alpha-1,6-mannosyltransferase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60249/alg12-(alg12-alpha-1-6-mannosyltransferase)
