ENSG00000182858


Homo sapiens

Features
Gene ID: ENSG00000182858
  
Biological name :ALG12
  
Synonyms : ALG12 / ALG12, alpha-1,6-mannosyltransferase / Q9BV10
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 22
Strand: -1
Band: q13.33
Gene start: 49900229
Gene end: 49918458
  
Corresponding Affymetrix probe sets: 218444_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000420630
Ensembl peptide - ENSP00000333813
Ensembl peptide - ENSP00000417387
NCBI entrez gene - 79087     See in Manteia.
OMIM - 607144
RefSeq - XM_017028937
RefSeq - NM_024105
RefSeq - XM_011530371
RefSeq - XM_017028936
RefSeq Peptide - NP_077010
swissprot - Q9BV10
swissprot - H7C4I6
swissprot - H7C5R7
swissprot - A0A024R4V6
Ensembl - ENSG00000182858
  
Related genetic diseases (OMIM): 607143 - Congenital disorder of glycosylation, type Ig, 607143
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 alg12ENSDARG00000041199Danio rerio
 ALG12ENSGALG00000008539Gallus gallus
 Alg12ENSMUSG00000035845Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR005599  GPI mannosyltransferase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006457 protein folding NAS
 biological_processGO:0006486 protein glycosylation IEA
 biological_processGO:0006487 protein N-linked glycosylation IBA
 biological_processGO:0006488 dolichol-linked oligosaccharide biosynthetic process IDA
 biological_processGO:0097502 mannosylation IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0000030 mannosyltransferase activity TAS
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016757 transferase activity, transferring glycosyl groups IEA
 molecular_functionGO:0052917 dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity IEA


Pathways (from Reactome)
Pathway description
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
Defective ALG12 causes ALG12-CDG (CDG-1g)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000078 Abnormality of the genital tract 
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 HP:0000253 Microcephaly, progressive "Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms." [HPO:curators]
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 HP:0000322 Short philtrum 
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 HP:0000377 Abnormal form of ears "Abnormal form of the out part of the ear (also referred to as the auricle or pinna)." [HPO:curators]
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 HP:0001252 Muscular hypotonia "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators]
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001508 Failure to thrive 
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 HP:0002901 Hypocalcemia "A level of blood calcium that is lower than normal." [HPO:curators]
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 HP:0003645 Prolonged partial thromboplastin time 
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 HP:0010978 Abnormality of immune system physiology "A functional abnormality of the `immune system` (FMA:9825)." [HPO:probinson, MP:0001790]
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 HP:0011947 Respiratory tract infection "An infection of the upper or lower respiratory tract." [HPO:probinson]
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 HP:0011968 Feeding difficulties "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs]
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 HP:0100543 Cognitive impairment "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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