Atlas of Genetics and Cytogenetics in Oncology and Haematology


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COL6A2 (collagen type VI alpha 2 chain)

Identity

Alias (NCBI)BTHLM1
PP3610
UCMD1
HGNC (Hugo) COL6A2
HGNC Previous namecollagen type VI alpha 2
LocusID (NCBI) 1292
Atlas_Id 61996
Location 21q22.3  [Link to chromosome band 21q22]
Location_base_pair Starts at 46098119 and ends at 46129805 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)
CACNA1H (16p13.3) / COL6A2 (21q22.3)CAPN6 (Xq23) / COL6A2 (21q22.3)COL6A2 (21q22.3) / CAND2 (3p25.2)
COL6A2 (21q22.3) / COL6A2 (21q22.3)COL6A2 (21q22.3) / DDX27 (20q13.13)COL6A2 (21q22.3) / ELK3 (12q23.1)
COL6A2 (21q22.3) / FOXP1 (3p13)PAPOLA (14q32.2) / COL6A2 (21q22.3)STEAP2 (7q21.13) / COL6A2 (21q22.3)
TMCO6 (5q31.3) / COL6A2 (21q22.3)

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)COL6A2   2212
LRG (Locus Reference Genomic)LRG_476
Cards
Entrez_Gene (NCBI)COL6A2    collagen type VI alpha 2 chain
AliasesBTHLM1; PP3610; UCMD1
GeneCards (Weizmann)COL6A2
Ensembl hg19 (Hinxton)ENSG00000142173 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000142173 [Gene_View]  ENSG00000142173 [Sequence]  chr21:46098119-46129805 [Contig_View]  COL6A2 [Vega]
ICGC DataPortalENSG00000142173
TCGA cBioPortalCOL6A2
AceView (NCBI)COL6A2
Genatlas (Paris)COL6A2
SOURCE (Princeton)COL6A2
Genetics Home Reference (NIH)COL6A2
Genomic and cartography
GoldenPath hg38 (UCSC)COL6A2  -     chr21:46098119-46129805 +  21q22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)COL6A2  -     21q22.3   [Description]    (hg19-Feb_2009)
GoldenPathCOL6A2 - 21q22.3 [CytoView hg19]  COL6A2 - 21q22.3 [CytoView hg38]
ImmunoBaseENSG00000142173
Genome Data Viewer NCBICOL6A2 [Mapview hg19]  
OMIM120240   158810   254090   255600   
Gene and transcription
Genbank (Entrez)AF218010 AI275476 AK093995 AK128695 AL044156
RefSeq transcript (Entrez)NM_001849 NM_058174 NM_058175
Consensus coding sequences : CCDS (NCBI)COL6A2
Gene ExpressionCOL6A2 [ NCBI-GEO ]   COL6A2 [ EBI - ARRAY_EXPRESS ]   COL6A2 [ SEEK ]   COL6A2 [ MEM ]
Gene Expression Viewer (FireBrowse)COL6A2 [ Firebrowse - Broad ]
GenevisibleExpression of COL6A2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1292
GTEX Portal (Tissue expression)COL6A2
Human Protein AtlasENSG00000142173-COL6A2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)COL6A2
Human Protein Atlas [tissue]ENSG00000142173-COL6A2 [tissue]
HPRD02110
Protein Interaction databases
BioGRIDCOL6A2
STRING (EMBL)COL6A2
ZODIACCOL6A2
Ontologies - Pathways
Litterature
PubMed75 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCOL6A2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:46:33 CEST 2021

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