Atlas of Genetics and Cytogenetics in Oncology and Haematology

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COL5A2 (collagen type V alpha 2 chain)

Identity

Alias (NCBI)EDSC
EDSCL2
HGNC (Hugo) COL5A2
HGNC Alias nameAB collagen
HGNC Previous namecollagen, type V, alpha 2
LocusID (NCBI) 1290
Atlas_Id 57558
Location 2q32.2  [Link to chromosome band 2q32]
Location_base_pair Starts at 189031898 and ends at 189179761 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)
COL5A2 (2q32.2) / COL5A2 (2q32.2)COL5A2 (2q32.2) / PTPRD (9p24.1)COL5A2 (2q32.2) / VIM (10p13)
ENGASE (17q25.3) / COL5A2 (2q32.2)RNF216 (7p22.1) / COL5A2 (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)COL5A2   2210
Cards
Entrez_Gene (NCBI)COL5A2    collagen type V alpha 2 chain
AliasesEDSC; EDSCL2
GeneCards (Weizmann)COL5A2
Ensembl hg19 (Hinxton)ENSG00000204262 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000204262 [Gene_View]  ENSG00000204262 [Sequence]  chr2:189031898-189179761 [Contig_View]  COL5A2 [Vega]
ICGC DataPortalENSG00000204262
TCGA cBioPortalCOL5A2
AceView (NCBI)COL5A2
Genatlas (Paris)COL5A2
SOURCE (Princeton)COL5A2
Genetics Home Reference (NIH)COL5A2
Genomic and cartography
GoldenPath hg38 (UCSC)COL5A2  -     chr2:189031898-189179761 -  2q32.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)COL5A2  -     2q32.2   [Description]    (hg19-Feb_2009)
GoldenPathCOL5A2 - 2q32.2 [CytoView hg19]  COL5A2 - 2q32.2 [CytoView hg38]
ImmunoBaseENSG00000204262
genome Data Viewer NCBICOL5A2 [Mapview hg19]  
OMIM120190   130010   
Gene and transcription
Genbank (Entrez)AB209045 AK297936 AK300146 AL552427 BC015705
RefSeq transcript (Entrez)NM_000393
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)COL5A2
Alternative Splicing GalleryENSG00000204262
Gene ExpressionCOL5A2 [ NCBI-GEO ]   COL5A2 [ EBI - ARRAY_EXPRESS ]   COL5A2 [ SEEK ]   COL5A2 [ MEM ]
Gene Expression Viewer (FireBrowse)COL5A2 [ Firebrowse - Broad ]
GenevisibleExpression of COL5A2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1290
GTEX Portal (Tissue expression)COL5A2
Human Protein AtlasENSG00000204262-COL5A2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP05997   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP05997  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP05997
Splice isoforms : SwissVarP05997
PhosPhoSitePlusP05997
Domaine pattern : Prosite (Expaxy)NC1_FIB (PS51461)    VWFC_1 (PS01208)    VWFC_2 (PS50184)   
Domains : Interpro (EBI)Collagen    Fib_collagen_C    VWF_dom   
Domain families : Pfam (Sanger)COLFI (PF01410)    Collagen (PF01391)    VWC (PF00093)   
Domain families : Pfam (NCBI)pfam01410    pfam01391    pfam00093   
Domain families : Smart (EMBL)COLFI (SM00038)  VWC (SM00214)  
Conserved Domain (NCBI)COL5A2
Blocks (Seattle)COL5A2
PDB (RSDB)1A9A   
PDB Europe1A9A   
PDB (PDBSum)1A9A   
PDB (IMB)1A9A   
Structural Biology KnowledgeBase1A9A   
SCOP (Structural Classification of Proteins)1A9A   
CATH (Classification of proteins structures)1A9A   
SuperfamilyP05997
Human Protein Atlas [tissue]ENSG00000204262-COL5A2 [tissue]
Peptide AtlasP05997
IPIIPI00739099   IPI00910822   IPI00844306   
Protein Interaction databases
DIP (DOE-UCLA)P05997
IntAct (EBI)P05997
BioGRIDCOL5A2
STRING (EMBL)COL5A2
ZODIACCOL5A2
Ontologies - Pathways
QuickGOP05997
Ontology : AmiGOskeletal system development  ossification  extracellular matrix structural constituent  extracellular region  collagen type V trimer  collagen type V trimer  extracellular space  endoplasmic reticulum lumen  extracellular matrix structural constituent conferring tensile strength  extracellular matrix structural constituent conferring tensile strength  extracellular matrix organization  extracellular matrix organization  collagen fibril organization  collagen fibril organization  extracellular matrix  extracellular matrix  skin development  skin development  skin development  SMAD binding  metal ion binding  eye morphogenesis  collagen-containing extracellular matrix  cellular response to amino acid stimulus  negative regulation of endodermal cell differentiation  
Ontology : EGO-EBIskeletal system development  ossification  extracellular matrix structural constituent  extracellular region  collagen type V trimer  collagen type V trimer  extracellular space  endoplasmic reticulum lumen  extracellular matrix structural constituent conferring tensile strength  extracellular matrix structural constituent conferring tensile strength  extracellular matrix organization  extracellular matrix organization  collagen fibril organization  collagen fibril organization  extracellular matrix  extracellular matrix  skin development  skin development  skin development  SMAD binding  metal ion binding  eye morphogenesis  collagen-containing extracellular matrix  cellular response to amino acid stimulus  negative regulation of endodermal cell differentiation  
Pathways : KEGGPI3K-Akt signaling pathway    Focal adhesion    ECM-receptor interaction    Protein digestion and absorption    Amoebiasis   
NDEx NetworkCOL5A2
Atlas of Cancer Signalling NetworkCOL5A2
Wikipedia pathwaysCOL5A2
Orthology - Evolution
OrthoDB1290
GeneTree (enSembl)ENSG00000204262
Phylogenetic Trees/Animal Genes : TreeFamCOL5A2
HOGENOMP05997
Homologs : HomoloGeneCOL5A2
Homology/Alignments : Family Browser (UCSC)COL5A2
Gene fusions - Rearrangements
Fusion : QuiverCOL5A2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOL5A2 [hg38]
dbVarCOL5A2
ClinVarCOL5A2
MonarchCOL5A2
1000_GenomesCOL5A2 
Exome Variant ServerCOL5A2
GNOMAD BrowserENSG00000204262
Varsome BrowserCOL5A2
Genomic Variants (DGV)COL5A2 [DGVbeta]
DECIPHERCOL5A2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCOL5A2 
Mutations
ICGC Data PortalCOL5A2 
TCGA Data PortalCOL5A2 
Broad Tumor PortalCOL5A2
OASIS PortalCOL5A2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOL5A2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCOL5A2
Mutations and Diseases : HGMDCOL5A2
BioMutasearch COL5A2
DgiDB (Drug Gene Interaction Database)COL5A2
DoCM (Curated mutations)COL5A2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COL5A2 (select a term)
intoGenCOL5A2
Cancer3DCOL5A2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM120190    130010   
Orphanet
DisGeNETCOL5A2
MedgenCOL5A2
Genetic Testing Registry COL5A2
NextProtP05997 [Medical]
GENETestsCOL5A2
Target ValidationCOL5A2
Huge Navigator COL5A2 [HugePedia]
ClinGenCOL5A2
Clinical trials, drugs, therapy
MyCancerGenomeCOL5A2
Protein Interactions : CTD
Pharm GKB GenePA26725
PharosP05997
Clinical trialCOL5A2
Miscellaneous
canSAR (ICR)COL5A2 (select the gene name)
HarmonizomeCOL5A2
DataMed IndexCOL5A2
Probes
Litterature
PubMed60 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCOL5A2
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 : Fri Jan 1 18:10:54 CET 2021
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