ENSG00000119514


Homo sapiens

Features
Gene ID: ENSG00000119514
  
Biological name :GALNT12
  
Synonyms : GALNT12 / polypeptide N-acetylgalactosaminyltransferase 12 / Q8IXK2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: 1
Band: q22.33
Gene start: 98807699
Gene end: 98850081
  
Corresponding Affymetrix probe sets: 218885_s_at (Human Genome U133 Plus 2.0 Array)   222773_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000477657
Ensembl peptide - ENSP00000364150
NCBI entrez gene - 79695     See in Manteia.
OMIM - 610290
RefSeq - XM_017015133
RefSeq - NM_024642
RefSeq - XM_006717287
RefSeq - XM_011519018
RefSeq - XM_011519020
RefSeq Peptide - NP_078918
swissprot - Q8IXK2
swissprot - A0A087WT76
Ensembl - ENSG00000119514
  
Related genetic diseases (OMIM): 608812 - {Colorectal cancer, susceptibility to, 1}, 608812
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
 galnt12ENSDARG00000055490Danio rerio
 GALNT12ENSGALG00000013197Gallus gallus
 Q8BGT9ENSMUSG00000039774Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GALNT4 / Q8N4A0 / polypeptide N-acetylgalactosaminyltransferase 4ENSG0000025759455
POC1B-GALNT4 / POC1B-GALNT4 readthroughENSG0000025907554
GALNT6 / Q8NCL4 / polypeptide N-acetylgalactosaminyltransferase 6ENSG0000013962944
GALNT3 / Q14435 / polypeptide N-acetylgalactosaminyltransferase 3ENSG0000011533942
Q8IUC8 / GALNT13 / polypeptide N-acetylgalactosaminyltransferase 13ENSG0000014427840
GALNT1 / Q10472 / polypeptide N-acetylgalactosaminyltransferase 1ENSG0000014142939
GALNT2 / Q10471 / polypeptide N-acetylgalactosaminyltransferase 2ENSG0000014364137
Q8NCW6 / GALNT11 / polypeptide N-acetylgalactosaminyltransferase 11ENSG0000017823435
GALNT5 / Q7Z7M9 / polypeptide N-acetylgalactosaminyltransferase 5ENSG0000013654235
Q8N428 / GALNT16 / polypeptide N-acetylgalactosaminyltransferase 16ENSG0000010062634
Q96FL9 / GALNT14 / polypeptide N-acetylgalactosaminyltransferase 14ENSG0000015808932
Q7Z4T8 / GALNTL5 / polypeptide N-acetylgalactosaminyltransferase like 5ENSG0000010664827


Protein motifs (from Interpro)
Interpro ID Name
 IPR000772  Ricin B, lectin domain
 IPR001173  Glycosyltransferase 2-like
 IPR029044  Nucleotide-diphospho-sugar transferases
 IPR035992  Ricin B-like lectins


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006486 protein glycosylation IEA
 biological_processGO:0016266 O-glycan processing TAS
 cellular_componentGO:0000139 Golgi membrane TAS
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0004653 polypeptide N-acetylgalactosaminyltransferase activity TAS
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016757 transferase activity, transferring glycosyl groups IEA
 molecular_functionGO:0030246 carbohydrate binding IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Defective GALNT12 causes colorectal cancer 1 (CRCS1)
O-linked glycosylation of mucins


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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