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COL4A2 (collagen type IV alpha 2 chain)

Identity

Alias_namescollagen type IV alpha 2
Alias_symbol (synonym)FLJ22259
DKFZp686I14213
Other aliasICH
POREN2
HGNC (Hugo) COL4A2
LocusID (NCBI) 1284
Atlas_Id 40125
Location 13q34  [Link to chromosome band 13q34]
Location_base_pair Starts at 110307267 and ends at 110513209 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ABCC4 (13q32.1) / COL4A2 (13q34)COL4A2 (13q34) / COL4A2 (13q34)COL4A2 (13q34) / EEA1 (12q22)
COL4A2 (13q34) / ELK3 (12q23.1)COL4A2 (13q34) / NARS2 (11q14.1)COL4A2 (13q34) / STK24 (13q32.2)
DBNL (7p13) / COL4A2 (13q34)ENO1 (1p36.23) / COL4A2 (13q34)GRTP1 (13q34) / COL4A2 (13q34)
ABCC4 13q32.1 / COL4A2 13q34COL4A2 13q34 / EEA1 12q22COL4A2 13q34 / ELK3 12q23.1
GRTP1 13q34 / COL4A2 13q34

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)COL4A2   2203
Cards
Entrez_Gene (NCBI)COL4A2  1284  collagen type IV alpha 2 chain
AliasesICH; POREN2
GeneCards (Weizmann)COL4A2
Ensembl hg19 (Hinxton)ENSG00000134871 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000134871 [Gene_View]  chr13:110307267-110513209 [Contig_View]  COL4A2 [Vega]
ICGC DataPortalENSG00000134871
TCGA cBioPortalCOL4A2
AceView (NCBI)COL4A2
Genatlas (Paris)COL4A2
WikiGenes1284
SOURCE (Princeton)COL4A2
Genetics Home Reference (NIH)COL4A2
Genomic and cartography
GoldenPath hg38 (UCSC)COL4A2  -     chr13:110307267-110513209 +  13q34   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)COL4A2  -     13q34   [Description]    (hg19-Feb_2009)
EnsemblCOL4A2 - 13q34 [CytoView hg19]  COL4A2 - 13q34 [CytoView hg38]
Mapping of homologs : NCBICOL4A2 [Mapview hg19]  COL4A2 [Mapview hg38]
OMIM120090   614483   614519   
Gene and transcription
Genbank (Entrez)AF258350 AF400430 AK025912 AK294920 AW298730
RefSeq transcript (Entrez)NM_001846
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)COL4A2
Cluster EST : UnigeneHs.508716 [ NCBI ]
CGAP (NCI)Hs.508716
Alternative Splicing GalleryENSG00000134871
Gene ExpressionCOL4A2 [ NCBI-GEO ]   COL4A2 [ EBI - ARRAY_EXPRESS ]   COL4A2 [ SEEK ]   COL4A2 [ MEM ]
Gene Expression Viewer (FireBrowse)COL4A2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1284
GTEX Portal (Tissue expression)COL4A2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP08572   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP08572  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP08572
Splice isoforms : SwissVarP08572
PhosPhoSitePlusP08572
Domaine pattern : Prosite (Expaxy)NC1_IV (PS51403)   
Domains : Interpro (EBI)Collagen    Collagen_VI_NC    CTDL_fold   
Domain families : Pfam (Sanger)C4 (PF01413)    Collagen (PF01391)   
Domain families : Pfam (NCBI)pfam01413    pfam01391   
Domain families : Smart (EMBL)C4 (SM00111)  
Conserved Domain (NCBI)COL4A2
DMDM Disease mutations1284
Blocks (Seattle)COL4A2
PDB (SRS)1LI1   
PDB (PDBSum)1LI1   
PDB (IMB)1LI1   
PDB (RSDB)1LI1   
Structural Biology KnowledgeBase1LI1   
SCOP (Structural Classification of Proteins)1LI1   
CATH (Classification of proteins structures)1LI1   
SuperfamilyP08572
Human Protein AtlasENSG00000134871
Peptide AtlasP08572
HPRD00355
IPIIPI00306322   IPI00936857   IPI00477950   
Protein Interaction databases
DIP (DOE-UCLA)P08572
IntAct (EBI)P08572
FunCoupENSG00000134871
BioGRIDCOL4A2
STRING (EMBL)COL4A2
ZODIACCOL4A2
Ontologies - Pathways
QuickGOP08572
Ontology : AmiGOangiogenesis  extracellular matrix structural constituent  protein binding  extracellular region  collagen type IV trimer  extracellular space  endoplasmic reticulum lumen  transcription, DNA-templated  negative regulation of angiogenesis  extracellular matrix organization  extracellular matrix organization  collagen catabolic process  extracellular matrix  extracellular matrix  extracellular matrix  extracellular matrix  endodermal cell differentiation  collagen-activated tyrosine kinase receptor signaling pathway  extracellular exosome  cellular response to transforming growth factor beta stimulus  
Ontology : EGO-EBIangiogenesis  extracellular matrix structural constituent  protein binding  extracellular region  collagen type IV trimer  extracellular space  endoplasmic reticulum lumen  transcription, DNA-templated  negative regulation of angiogenesis  extracellular matrix organization  extracellular matrix organization  collagen catabolic process  extracellular matrix  extracellular matrix  extracellular matrix  extracellular matrix  endodermal cell differentiation  collagen-activated tyrosine kinase receptor signaling pathway  extracellular exosome  cellular response to transforming growth factor beta stimulus  
Pathways : BIOCARTA [Genes]   
Pathways : KEGGPI3K-Akt signaling pathway    Focal adhesion    ECM-receptor interaction    Protein digestion and absorption    Amoebiasis    Pathways in cancer    Small cell lung cancer   
NDEx NetworkCOL4A2
Atlas of Cancer Signalling NetworkCOL4A2
Wikipedia pathwaysCOL4A2
Orthology - Evolution
OrthoDB1284
GeneTree (enSembl)ENSG00000134871
Phylogenetic Trees/Animal Genes : TreeFamCOL4A2
HOVERGENP08572
HOGENOMP08572
Homologs : HomoloGeneCOL4A2
Homology/Alignments : Family Browser (UCSC)COL4A2
Gene fusions - Rearrangements
Fusion : MitelmanABCC4/COL4A2 [13q32.1/13q34]  [t(13;13)(q32;q34)]  
Fusion : MitelmanCOL4A2/ELK3 [13q34/12q23.1]  [t(12;13)(q23;q34)]  
Fusion: TCGAABCC4 13q32.1 COL4A2 13q34 LUAD
Fusion: TCGACOL4A2 13q34 EEA1 12q22 KIRC
Fusion: TCGACOL4A2 13q34 ELK3 12q23.1 BLCA
Fusion: TCGAGRTP1 13q34 COL4A2 13q34 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOL4A2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COL4A2
dbVarCOL4A2
ClinVarCOL4A2
1000_GenomesCOL4A2 
Exome Variant ServerCOL4A2
ExAC (Exome Aggregation Consortium)COL4A2 (select the gene name)
Genetic variants : HAPMAP1284
Genomic Variants (DGV)COL4A2 [DGVbeta]
DECIPHERCOL4A2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCOL4A2 
Mutations
ICGC Data PortalCOL4A2 
TCGA Data PortalCOL4A2 
Broad Tumor PortalCOL4A2
OASIS PortalCOL4A2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOL4A2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCOL4A2
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
BioMutasearch COL4A2
DgiDB (Drug Gene Interaction Database)COL4A2
DoCM (Curated mutations)COL4A2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COL4A2 (select a term)
intoGenCOL4A2
Cancer3DCOL4A2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM120090    614483    614519   
Orphanet14383   
MedgenCOL4A2
Genetic Testing Registry COL4A2
NextProtP08572 [Medical]
TSGene1284
GENETestsCOL4A2
Target ValidationCOL4A2
Huge Navigator COL4A2 [HugePedia]
snp3D : Map Gene to Disease1284
BioCentury BCIQCOL4A2
ClinGenCOL4A2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1284
Chemical/Pharm GKB GenePA26718
Clinical trialCOL4A2
Miscellaneous
canSAR (ICR)COL4A2 (select the gene name)
Probes
Litterature
PubMed101 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOL4A2
EVEXCOL4A2
GoPubMedCOL4A2
iHOPCOL4A2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:03:15 CEST 2017

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