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COL5A2 (collagen, type V, alpha 2)

Identity

Alias_namescollagen, type V, alpha 2
Other aliasEDSC
HGNC (Hugo) COL5A2
LocusID (NCBI) 1290
Atlas_Id 61995
Location 2q32.2  [Link to chromosome band 2q32]
Location_base_pair Starts at 189896641 and ends at 190044605 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
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
LRG (Locus Reference Genomic)LRG_738
Cards
Entrez_Gene (NCBI)COL5A2  1290  collagen, type V, alpha 2
AliasesEDSC
GeneCards (Weizmann)COL5A2
Ensembl hg19 (Hinxton)ENSG00000204262 [Gene_View]  chr2:189896641-190044605 [Contig_View]  COL5A2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000204262 [Gene_View]  chr2:189896641-190044605 [Contig_View]  COL5A2 [Vega]
ICGC DataPortalENSG00000204262
TCGA cBioPortalCOL5A2
AceView (NCBI)COL5A2
Genatlas (Paris)COL5A2
WikiGenes1290
SOURCE (Princeton)COL5A2
Genetics Home Reference (NIH)COL5A2
Genomic and cartography
GoldenPath hg19 (UCSC)COL5A2  -     chr2:189896641-190044605 -  2q32.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)COL5A2  -     2q32.2   [Description]    (hg38-Dec_2013)
EnsemblCOL5A2 - 2q32.2 [CytoView hg19]  COL5A2 - 2q32.2 [CytoView hg38]
Mapping of homologs : NCBICOL5A2 [Mapview hg19]  COL5A2 [Mapview hg38]
OMIM120190   130000   130000   
Gene and transcription
Genbank (Entrez)AB209045 AK297936 AK300146 AL552427 BC015705
RefSeq transcript (Entrez)NM_000393
RefSeq genomic (Entrez)NC_000002 NC_018913 NG_011799 NT_005403 NW_004929305
Consensus coding sequences : CCDS (NCBI)COL5A2
Cluster EST : UnigeneHs.445827 [ NCBI ]
CGAP (NCI)Hs.445827
Alternative Splicing GalleryENSG00000204262
Gene ExpressionCOL5A2 [ NCBI-GEO ]   COL5A2 [ EBI - ARRAY_EXPRESS ]   COL5A2 [ SEEK ]   COL5A2 [ MEM ]
Gene Expression Viewer (FireBrowse)COL5A2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1290
GTEX Portal (Tissue expression)COL5A2
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_C   
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)  
Domain structure : Prodom (Prabi Lyon)Fib_collagen_C (PD002078)   
Conserved Domain (NCBI)COL5A2
DMDM Disease mutations1290
Blocks (Seattle)COL5A2
PDB (SRS)1A9A   
PDB (PDBSum)1A9A   
PDB (IMB)1A9A   
PDB (RSDB)1A9A   
Structural Biology KnowledgeBase1A9A   
SCOP (Structural Classification of Proteins)1A9A   
CATH (Classification of proteins structures)1A9A   
SuperfamilyP05997
Human Protein AtlasENSG00000204262
Peptide AtlasP05997
HPRD00366
IPIIPI00739099   IPI00910822   IPI00844306   
Protein Interaction databases
DIP (DOE-UCLA)P05997
IntAct (EBI)P05997
FunCoupENSG00000204262
BioGRIDCOL5A2
STRING (EMBL)COL5A2
ZODIACCOL5A2
Ontologies - Pathways
QuickGOP05997
Ontology : AmiGOskeletal system development  ossification  molecular_function  extracellular matrix structural constituent  extracellular region  collagen type V trimer  endoplasmic reticulum lumen  axon guidance  extracellular matrix disassembly  extracellular matrix organization  collagen fibril organization  collagen fibril organization  collagen catabolic process  extracellular matrix  skin development  skin development  SMAD binding  metal ion binding  eye morphogenesis  cellular response to amino acid stimulus  negative regulation of endodermal cell differentiation  
Ontology : EGO-EBIskeletal system development  ossification  molecular_function  extracellular matrix structural constituent  extracellular region  collagen type V trimer  endoplasmic reticulum lumen  axon guidance  extracellular matrix disassembly  extracellular matrix organization  collagen fibril organization  collagen fibril organization  collagen catabolic process  extracellular matrix  skin development  skin development  SMAD binding  metal ion binding  eye morphogenesis  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
HOVERGENP05997
HOGENOMP05997
Homologs : HomoloGeneCOL5A2
Homology/Alignments : Family Browser (UCSC)COL5A2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOL5A2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COL5A2
dbVarCOL5A2
ClinVarCOL5A2
1000_GenomesCOL5A2 
Exome Variant ServerCOL5A2
ExAC (Exome Aggregation Consortium)COL5A2 (select the gene name)
Genetic variants : HAPMAP1290
Genomic Variants (DGV)COL5A2 [DGVbeta]
DECIPHER (Syndromes)2:189896641-190044605  ENSG00000204262
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]  
Mutations and Diseases : HGMDCOL5A2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Ehlers Danlos Syndrome Variant Database
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] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM120190    130000    130000   
Orphanet12007    12006   
MedgenCOL5A2
Genetic Testing Registry COL5A2
NextProtP05997 [Medical]
TSGene1290
GENETestsCOL5A2
Huge Navigator COL5A2 [HugePedia]
snp3D : Map Gene to Disease1290
BioCentury BCIQCOL5A2
ClinGenCOL5A2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1290
Chemical/Pharm GKB GenePA26725
Clinical trialCOL5A2
Miscellaneous
canSAR (ICR)COL5A2 (select the gene name)
Probes
Litterature
PubMed47 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOL5A2
EVEXCOL5A2
GoPubMedCOL5A2
iHOPCOL5A2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Mar 14 11:59:59 CET 2017

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