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COL3A1 (collagen type III alpha 1 chain)

Identity

Alias (NCBI)EDS4A
EDSVASC
PMGEDSV
HGNC (Hugo) COL3A1
HGNC Previous nameEDS4A
HGNC Previous nameEhlers-Danlos syndrome type IV, autosomal dominant
 collagen, type III, alpha 1
LocusID (NCBI) 1281
Atlas_Id 50204
Location 2q32.2  [Link to chromosome band 2q32]
Location_base_pair Starts at 188974373 and ends at 189012746 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)
AD_1 () / COL3A1 (2q32.2)BRI3 (7q21.3) / COL3A1 (2q32.2)CIZ1 (9q34.11) / COL3A1 (2q32.2)
COL3A1 (2q32.2) / AMOT (Xq23)COL3A1 (2q32.2) / ARHGAP18 (6q22.33)COL3A1 (2q32.2) / ARHGEF26 (3q25.2)
COL3A1 (2q32.2) / CHST12 (7p22.3)COL3A1 (2q32.2) / CLU (8p21.1)COL3A1 (2q32.2) / COL16A1 (1p35.2)
COL3A1 (2q32.2) / COL3A1 (2q32.2)COL3A1 (2q32.2) / COL6A3 (2q37.3)COL3A1 (2q32.2) / DYNC1H1 (14q32.31)
COL3A1 (2q32.2) / HSH2D (19p13.12)COL3A1 (2q32.2) / PLAG1 (8q12.1)COL3A1 (2q32.2) / SMC4 (3q25.33)
COL3A1 (2q32.2) / THBS2 (6q27)COL3A1 (2q32.2) / YWHAB (20q13.12)COL3A1 (2q32.2) / ZNF43 (19p12)
DCLK1 (13q13.3) / COL3A1 (2q32.2)EPS8 (12p12.3) / COL3A1 (2q32.2)GNL3 (3p21.1) / COL3A1 (2q32.2)
GRSF1 (4q13.3) / COL3A1 (2q32.2)PHB2 (12p13.31) / COL3A1 (2q32.2)POLD3 (11q13.4) / COL3A1 (2q32.2)
PRRC2C (1q24.3) / COL3A1 (2q32.2)RPAIN (17p13.2) / COL3A1 (2q32.2)SPATS2L (2q33.1) / COL3A1 (2q32.2)

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)COL3A1   2201
LRG (Locus Reference Genomic)LRG_3
Cards
Entrez_Gene (NCBI)COL3A1    collagen type III alpha 1 chain
AliasesEDS4A; EDSVASC; PMGEDSV
GeneCards (Weizmann)COL3A1
Ensembl hg19 (Hinxton)ENSG00000168542 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000168542 [Gene_View]  ENSG00000168542 [Sequence]  chr2:188974373-189012746 [Contig_View]  COL3A1 [Vega]
ICGC DataPortalENSG00000168542
TCGA cBioPortalCOL3A1
AceView (NCBI)COL3A1
Genatlas (Paris)COL3A1
SOURCE (Princeton)COL3A1
Genetics Home Reference (NIH)COL3A1
Genomic and cartography
GoldenPath hg38 (UCSC)COL3A1  -     chr2:188974373-189012746 +  2q32.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)COL3A1  -     2q32.2   [Description]    (hg19-Feb_2009)
GoldenPathCOL3A1 - 2q32.2 [CytoView hg19]  COL3A1 - 2q32.2 [CytoView hg38]
ImmunoBaseENSG00000168542
Genome Data Viewer NCBICOL3A1 [Mapview hg19]  
OMIM120180   130050   618343   
Gene and transcription
Genbank (Entrez)AI755052 AK091853 AK308010 BC028178 BP374999
RefSeq transcript (Entrez)NM_000090 NM_001376916
Consensus coding sequences : CCDS (NCBI)COL3A1
Gene ExpressionCOL3A1 [ NCBI-GEO ]   COL3A1 [ EBI - ARRAY_EXPRESS ]   COL3A1 [ SEEK ]   COL3A1 [ MEM ]
Gene Expression Viewer (FireBrowse)COL3A1 [ Firebrowse - Broad ]
GenevisibleExpression of COL3A1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1281
GTEX Portal (Tissue expression)COL3A1
Human Protein AtlasENSG00000168542-COL3A1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)COL3A1
Human Protein Atlas [tissue]ENSG00000168542-COL3A1 [tissue]
HPRD00365
Protein Interaction databases
BioGRIDCOL3A1
STRING (EMBL)COL3A1
ZODIACCOL3A1
Ontologies - Pathways
Litterature
PubMed265 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCOL3A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 15:04:44 CEST 2021

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