Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

COLGALT2 (collagen beta(1-O)galactosyltransferase 2)

Identity

Alias (NCBI)C1orf17
ColGalT 2
GLT25D2
HGNC (Hugo) COLGALT2
HGNC Alias symbKIAA0584
HGNC Alias nameProcollagen galactosyltransferase
HGNC Previous nameC1orf17
 GLT25D2
HGNC Previous namechromosome 1 open reading frame 17
 glycosyltransferase 25 domain containing 2
LocusID (NCBI) 23127
Atlas_Id 62009
Location 1q25.3  [Link to chromosome band 1q25]
Location_base_pair Starts at 183935835 and ends at 184037728 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
COLGALT2 (1q25.3)::MAP1B (5q13.2)NOS1AP (1q23.3)::COLGALT2 (1q25.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)COLGALT2   16790
Cards
Entrez_Gene (NCBI)COLGALT2    collagen beta(1-O)galactosyltransferase 2
AliasesC1orf17; ColGalT; GLT25D2
GeneCards (Weizmann)COLGALT2
Ensembl hg19 (Hinxton)ENSG00000198756 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198756 [Gene_View]  ENSG00000198756 [Sequence]  chr1:183935835-184037728 [Contig_View]  COLGALT2 [Vega]
ICGC DataPortalENSG00000198756
TCGA cBioPortalCOLGALT2
AceView (NCBI)COLGALT2
Genatlas (Paris)COLGALT2
SOURCE (Princeton)COLGALT2
Genetics Home Reference (NIH)COLGALT2
Genomic and cartography
GoldenPath hg38 (UCSC)COLGALT2  -     chr1:183935835-184037728 -  1q25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)COLGALT2  -     1q25.3   [Description]    (hg19-Feb_2009)
GoldenPathCOLGALT2 - 1q25.3 [CytoView hg19]  COLGALT2 - 1q25.3 [CytoView hg38]
ImmunoBaseENSG00000198756
Genome Data Viewer NCBICOLGALT2 [Mapview hg19]  
OMIM617533   
Gene and transcription
Genbank (Entrez)AB011156 AF288389 AK095090 AK095192 AK127287
RefSeq transcript (Entrez)NM_001303420 NM_001303421 NM_015101
Consensus coding sequences : CCDS (NCBI)COLGALT2
Gene ExpressionCOLGALT2 [ NCBI-GEO ]   COLGALT2 [ EBI - ARRAY_EXPRESS ]   COLGALT2 [ SEEK ]   COLGALT2 [ MEM ]
Gene Expression Viewer (FireBrowse)COLGALT2 [ Firebrowse - Broad ]
GenevisibleExpression of COLGALT2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23127
GTEX Portal (Tissue expression)COLGALT2
Human Protein AtlasENSG00000198756-COLGALT2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IYK4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IYK4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IYK4
PhosPhoSitePlusQ8IYK4
Domaine pattern : Prosite (Expaxy)ER_TARGET (PS00014)   
Domains : Interpro (EBI)Glyco_trans_25    Nucleotide-diphossugar_trans   
Domain families : Pfam (Sanger)Glyco_transf_25 (PF01755)   
Domain families : Pfam (NCBI)pfam01755   
Conserved Domain (NCBI)COLGALT2
SuperfamilyQ8IYK4
AlphaFold pdb e-kbQ8IYK4   
Human Protein Atlas [tissue]ENSG00000198756-COLGALT2 [tissue]
HPRD13583
Protein Interaction databases
DIP (DOE-UCLA)Q8IYK4
IntAct (EBI)Q8IYK4
BioGRIDCOLGALT2
STRING (EMBL)COLGALT2
ZODIACCOLGALT2
Ontologies - Pathways
QuickGOQ8IYK4
Ontology : AmiGOprotein binding  endoplasmic reticulum lumen  collagen fibril organization  procollagen galactosyltransferase activity  
Ontology : EGO-EBIprotein binding  endoplasmic reticulum lumen  collagen fibril organization  procollagen galactosyltransferase activity  
NDEx NetworkCOLGALT2
Atlas of Cancer Signalling NetworkCOLGALT2
Wikipedia pathwaysCOLGALT2
Orthology - Evolution
OrthoDB23127
GeneTree (enSembl)ENSG00000198756
Phylogenetic Trees/Animal Genes : TreeFamCOLGALT2
Homologs : HomoloGeneCOLGALT2
Homology/Alignments : Family Browser (UCSC)COLGALT2
Gene fusions - Rearrangements
Fusion : QuiverCOLGALT2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOLGALT2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COLGALT2
dbVarCOLGALT2
ClinVarCOLGALT2
MonarchCOLGALT2
1000_GenomesCOLGALT2 
Exome Variant ServerCOLGALT2
GNOMAD BrowserENSG00000198756
Varsome BrowserCOLGALT2
ACMGCOLGALT2 variants
VarityQ8IYK4
Genomic Variants (DGV)COLGALT2 [DGVbeta]
DECIPHERCOLGALT2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCOLGALT2 
Mutations
ICGC Data PortalCOLGALT2 
TCGA Data PortalCOLGALT2 
Broad Tumor PortalCOLGALT2
OASIS PortalCOLGALT2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOLGALT2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCOLGALT2
Mutations and Diseases : HGMDCOLGALT2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCOLGALT2
DgiDB (Drug Gene Interaction Database)COLGALT2
DoCM (Curated mutations)COLGALT2
CIViC (Clinical Interpretations of Variants in Cancer)COLGALT2
Cancer3DCOLGALT2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617533   
Orphanet
DisGeNETCOLGALT2
MedgenCOLGALT2
Genetic Testing Registry COLGALT2
NextProtQ8IYK4 [Medical]
GENETestsCOLGALT2
Target ValidationCOLGALT2
Huge Navigator COLGALT2 [HugePedia]
ClinGenCOLGALT2
Clinical trials, drugs, therapy
MyCancerGenomeCOLGALT2
Protein Interactions : CTDCOLGALT2
Pharm GKB GenePA25606
PharosQ8IYK4
Clinical trialCOLGALT2
Miscellaneous
canSAR (ICR)COLGALT2
HarmonizomeCOLGALT2
ARCHS4COLGALT2
DataMed IndexCOLGALT2
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCOLGALT2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Jan 16 18:49:17 CET 2022

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.