Atlas of Genetics and Cytogenetics in Oncology and Haematology


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COL4A3BP (collagen type IV alpha 3 binding protein)

Identity

Alias_namescollagen
Alias_symbol (synonym)GPBP
STARD11
CERT
Other aliasCERTL
MRD34
HGNC (Hugo) COL4A3BP
LocusID (NCBI) 10087
Atlas_Id 52833
Location 5q13.3  [Link to chromosome band 5q13]
Location_base_pair Starts at 75371103 and ends at 75511981 bp from pter ( according to hg38-Dec_2013)

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)COL4A3BP   2205
Cards
Entrez_Gene (NCBI)COL4A3BP  10087  collagen type IV alpha 3 binding protein
AliasesCERT; CERTL; GPBP; MRD34; 
STARD11
GeneCards (Weizmann)COL4A3BP
Ensembl hg19 (Hinxton)ENSG00000113163 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000113163 [Gene_View]  chr5:75371103-75511981 [Contig_View]  COL4A3BP [Vega]
ICGC DataPortalENSG00000113163
TCGA cBioPortalCOL4A3BP
AceView (NCBI)COL4A3BP
Genatlas (Paris)COL4A3BP
WikiGenes10087
SOURCE (Princeton)COL4A3BP
Genetics Home Reference (NIH)COL4A3BP
Genomic and cartography
GoldenPath hg38 (UCSC)COL4A3BP  -     chr5:75371103-75511981 -  5q13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)COL4A3BP  -     5q13.3   [Description]    (hg19-Feb_2009)
EnsemblCOL4A3BP - 5q13.3 [CytoView hg19]  COL4A3BP - 5q13.3 [CytoView hg38]
Mapping of homologs : NCBICOL4A3BP [Mapview hg19]  COL4A3BP [Mapview hg38]
OMIM604677   616351   
Gene and transcription
Genbank (Entrez)AF136450 AF232930 AK000604 AK091851 AK096854
RefSeq transcript (Entrez)NM_001130105 NM_005713 NM_031361
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)COL4A3BP
Cluster EST : UnigeneHs.270437 [ NCBI ]
CGAP (NCI)Hs.270437
Alternative Splicing GalleryENSG00000113163
Gene ExpressionCOL4A3BP [ NCBI-GEO ]   COL4A3BP [ EBI - ARRAY_EXPRESS ]   COL4A3BP [ SEEK ]   COL4A3BP [ MEM ]
Gene Expression Viewer (FireBrowse)COL4A3BP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10087
GTEX Portal (Tissue expression)COL4A3BP
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y5P4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y5P4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y5P4
Splice isoforms : SwissVarQ9Y5P4
PhosPhoSitePlusQ9Y5P4
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)    START (PS50848)   
Domains : Interpro (EBI)PH_dom-like    PH_domain    START-like_dom    START_lipid-bd_dom   
Domain families : Pfam (Sanger)PH (PF00169)    START (PF01852)   
Domain families : Pfam (NCBI)pfam00169    pfam01852   
Domain families : Smart (EMBL)PH (SM00233)  START (SM00234)  
Conserved Domain (NCBI)COL4A3BP
DMDM Disease mutations10087
Blocks (Seattle)COL4A3BP
PDB (SRS)2E3M    2E3N    2E3O    2E3P    2E3Q    2E3R    2E3S    2RSG    2Z9Y    2Z9Z    3H3Q    3H3R    3H3S    3H3T    4HHV   
PDB (PDBSum)2E3M    2E3N    2E3O    2E3P    2E3Q    2E3R    2E3S    2RSG    2Z9Y    2Z9Z    3H3Q    3H3R    3H3S    3H3T    4HHV   
PDB (IMB)2E3M    2E3N    2E3O    2E3P    2E3Q    2E3R    2E3S    2RSG    2Z9Y    2Z9Z    3H3Q    3H3R    3H3S    3H3T    4HHV   
PDB (RSDB)2E3M    2E3N    2E3O    2E3P    2E3Q    2E3R    2E3S    2RSG    2Z9Y    2Z9Z    3H3Q    3H3R    3H3S    3H3T    4HHV   
Structural Biology KnowledgeBase2E3M    2E3N    2E3O    2E3P    2E3Q    2E3R    2E3S    2RSG    2Z9Y    2Z9Z    3H3Q    3H3R    3H3S    3H3T    4HHV   
SCOP (Structural Classification of Proteins)2E3M    2E3N    2E3O    2E3P    2E3Q    2E3R    2E3S    2RSG    2Z9Y    2Z9Z    3H3Q    3H3R    3H3S    3H3T    4HHV   
CATH (Classification of proteins structures)2E3M    2E3N    2E3O    2E3P    2E3Q    2E3R    2E3S    2RSG    2Z9Y    2Z9Z    3H3Q    3H3R    3H3S    3H3T    4HHV   
SuperfamilyQ9Y5P4
Human Protein AtlasENSG00000113163
Peptide AtlasQ9Y5P4
HPRD05246
IPIIPI00024701   IPI00182914   IPI00657692   IPI00964526   IPI00964762   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y5P4
IntAct (EBI)Q9Y5P4
FunCoupENSG00000113163
BioGRIDCOL4A3BP
STRING (EMBL)COL4A3BP
ZODIACCOL4A3BP
Ontologies - Pathways
QuickGOQ9Y5P4
Ontology : AmiGOcell morphogenesis  in utero embryonic development  heart morphogenesis  protein kinase activity  protein binding  nucleoplasm  mitochondrion  endoplasmic reticulum membrane  Golgi apparatus  cytosol  protein phosphorylation  ceramide metabolic process  muscle contraction  immune response  endoplasmic reticulum organization  signal transduction  cell proliferation  sphingolipid biosynthetic process  response to endoplasmic reticulum stress  ceramide transporter activity  ER to Golgi ceramide transport  ER to Golgi ceramide transport  perinuclear region of cytoplasm  lipid homeostasis  phosphatidylinositol-4-phosphate binding  mitochondrion morphogenesis  ceramide binding  
Ontology : EGO-EBIcell morphogenesis  in utero embryonic development  heart morphogenesis  protein kinase activity  protein binding  nucleoplasm  mitochondrion  endoplasmic reticulum membrane  Golgi apparatus  cytosol  protein phosphorylation  ceramide metabolic process  muscle contraction  immune response  endoplasmic reticulum organization  signal transduction  cell proliferation  sphingolipid biosynthetic process  response to endoplasmic reticulum stress  ceramide transporter activity  ER to Golgi ceramide transport  ER to Golgi ceramide transport  perinuclear region of cytoplasm  lipid homeostasis  phosphatidylinositol-4-phosphate binding  mitochondrion morphogenesis  ceramide binding  
NDEx NetworkCOL4A3BP
Atlas of Cancer Signalling NetworkCOL4A3BP
Wikipedia pathwaysCOL4A3BP
Orthology - Evolution
OrthoDB10087
GeneTree (enSembl)ENSG00000113163
Phylogenetic Trees/Animal Genes : TreeFamCOL4A3BP
HOVERGENQ9Y5P4
HOGENOMQ9Y5P4
Homologs : HomoloGeneCOL4A3BP
Homology/Alignments : Family Browser (UCSC)COL4A3BP
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOL4A3BP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COL4A3BP
dbVarCOL4A3BP
ClinVarCOL4A3BP
1000_GenomesCOL4A3BP 
Exome Variant ServerCOL4A3BP
ExAC (Exome Aggregation Consortium)COL4A3BP (select the gene name)
Genetic variants : HAPMAP10087
Genomic Variants (DGV)COL4A3BP [DGVbeta]
DECIPHERCOL4A3BP [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCOL4A3BP 
Mutations
ICGC Data PortalCOL4A3BP 
TCGA Data PortalCOL4A3BP 
Broad Tumor PortalCOL4A3BP
OASIS PortalCOL4A3BP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOL4A3BP  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCOL4A3BP
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 COL4A3BP
DgiDB (Drug Gene Interaction Database)COL4A3BP
DoCM (Curated mutations)COL4A3BP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COL4A3BP (select a term)
intoGenCOL4A3BP
Cancer3DCOL4A3BP(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604677    616351   
Orphanet
MedgenCOL4A3BP
Genetic Testing Registry COL4A3BP
NextProtQ9Y5P4 [Medical]
TSGene10087
GENETestsCOL4A3BP
Target ValidationCOL4A3BP
Huge Navigator COL4A3BP [HugePedia]
snp3D : Map Gene to Disease10087
BioCentury BCIQCOL4A3BP
ClinGenCOL4A3BP
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10087
Chemical/Pharm GKB GenePA26720
Clinical trialCOL4A3BP
Miscellaneous
canSAR (ICR)COL4A3BP (select the gene name)
Probes
Litterature
PubMed53 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOL4A3BP
EVEXCOL4A3BP
GoPubMedCOL4A3BP
iHOPCOL4A3BP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:29:08 CEST 2017

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