Atlas of Genetics and Cytogenetics in Oncology and Haematology


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COL4A5 (collagen, type IV, alpha 5)

Identity

Other namesASLN
ATS
CA54
HGNC (Hugo) COL4A5
LocusID (NCBI) 1287
Location Xq22.3
Location_base_pair Starts at 107683074 and ends at 107940775 bp from pter ( according to hg19-Feb_2009)
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)COL4A5   2207
Cards
Entrez_Gene (NCBI)COL4A5  1287  collagen, type IV, alpha 5
GeneCards (Weizmann)COL4A5
Ensembl (Hinxton)ENSG00000188153 [Gene_View]  chrX:107683074-107940775 [Contig_View]  COL4A5 [Vega]
ICGC DataPortalENSG00000188153
cBioPortalCOL4A5
AceView (NCBI)COL4A5
Genatlas (Paris)COL4A5
WikiGenes1287
SOURCE (Princeton)NM_000495 NM_033380 NM_033381
Genomic and cartography
GoldenPath (UCSC)COL4A5  -  Xq22.3   chrX:107683074-107940775 +  Xq22.3   [Description]    (hg19-Feb_2009)
EnsemblCOL4A5 - Xq22.3 [CytoView]
Mapping of homologs : NCBICOL4A5 [Mapview]
OMIM301050   303630   
Gene and transcription
Genbank (Entrez)AK294066 AK307900 BC035387 BC151846 BU688037
RefSeq transcript (Entrez)NM_000495 NM_033380 NM_033381
RefSeq genomic (Entrez)AC_000155 NC_000023 NC_018934 NG_011977 NT_011651 NW_001842391 NW_004929444
Consensus coding sequences : CCDS (NCBI)COL4A5
Cluster EST : UnigeneHs.369089 [ NCBI ]
CGAP (NCI)Hs.369089
Alternative Splicing : Fast-db (Paris)GSHG0031740
Alternative Splicing GalleryENSG00000188153
Gene ExpressionCOL4A5 [ NCBI-GEO ]     COL4A5 [ SEEK ]   COL4A5 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP29400 (Uniprot)
NextProtP29400  [Medical]
With graphics : InterProP29400
Splice isoforms : SwissVarP29400 (Swissvar)
Domaine pattern : Prosite (Expaxy)NC1_IV (PS51403)   
Domains : Interpro (EBI)C-type_lectin_fold [organisation]   Collagen [organisation]   Collagen_VI_NC [organisation]  
Related proteins : CluSTrP29400
Domain families : Pfam (Sanger)C4 (PF01413)    Collagen (PF01391)   
Domain families : Pfam (NCBI)pfam01413    pfam01391   
Domain families : Smart (EMBL)C4 (SM00111)  
DMDM Disease mutations1287
Blocks (Seattle)P29400
Human Protein AtlasENSG00000188153 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP29400
HPRD02363
IPIIPI00021715   IPI00216007   IPI00965332   IPI00964650   IPI00965031   IPI00964947   
Protein Interaction databases
DIP (DOE-UCLA)P29400
IntAct (EBI)P29400
FunCoupENSG00000188153
BioGRIDCOL4A5
InParanoidP29400
Interologous Interaction database P29400
IntegromeDBCOL4A5
STRING (EMBL)COL4A5
Ontologies - Pathways
Ontology : AmiGOextracellular matrix structural constituent  extracellular region  collagen type IV trimer  basal lamina  endoplasmic reticulum lumen  axon guidance  neuromuscular junction development  extracellular matrix disassembly  extracellular matrix organization  collagen catabolic process  neuromuscular junction  
Ontology : EGO-EBIextracellular matrix structural constituent  extracellular region  collagen type IV trimer  basal lamina  endoplasmic reticulum lumen  axon guidance  neuromuscular junction development  extracellular matrix disassembly  extracellular matrix organization  collagen catabolic process  neuromuscular junction  
Pathways : BIOCARTARegulators of Bone Mineralization [Genes]    Vitamin C in the Brain [Genes]    Intrinsic Prothrombin Activation Pathway [Genes]    Platelet Amyloid Precursor Protein Pathway [Genes]    Angiotensin-converting enzyme 2 regulates heart function [Genes]    Acute Myocardial Infarction [Genes]   
Pathways : KEGGPI3K-Akt signaling pathway    Focal adhesion    ECM-receptor interaction    Protein digestion and absorption    Amoebiasis    Pathways in cancer    Small cell lung cancer   
Protein Interaction DatabaseCOL4A5
Wikipedia pathwaysCOL4A5
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)COL4A5
snp3D : Map Gene to Disease1287
SNP (GeneSNP Utah)COL4A5
SNP : HGBaseCOL4A5
Genetic variants : HAPMAPCOL4A5
Exome VariantCOL4A5
1000_GenomesCOL4A5 
ICGC programENSG00000188153 
Somatic Mutations in Cancer : COSMICCOL4A5 
CONAN: Copy Number AnalysisCOL4A5 
Mutations and Diseases : HGMDCOL4A5
Genomic VariantsCOL4A5  COL4A5 [DGVbeta]
dbVarCOL4A5
ClinVarCOL4A5
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM301050    303630   
MedgenCOL4A5
GENETestsCOL4A5
Disease Genetic AssociationCOL4A5
Huge Navigator COL4A5 [HugePedia]  COL4A5 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneCOL4A5
Homology/Alignments : Family Browser (UCSC)COL4A5
Phylogenetic Trees/Animal Genes : TreeFamCOL4A5
Chemical/Protein Interactions : CTD1287
Chemical/Pharm GKB GenePA26722
Clinical trialCOL4A5
Cancer Resource (Charite)ENSG00000188153
Other databases
Probes
Litterature
PubMed115 Pubmed reference(s) in Entrez
CoreMineCOL4A5
iHOPCOL4A5
OncoSearchCOL4A5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jul 30 13:49:07 CEST 2014

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