Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

BMP5 (bone morphogenetic protein 5)

Identity

Other alias-
HGNC (Hugo) BMP5
LocusID (NCBI) 653
Atlas_Id 812
Location 6p12.1  [Link to chromosome band 6p12]
Location_base_pair Starts at 55753653 and ends at 55875590 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)
BMP5 (6p12.1) / COL21A1 (6p12.1)ETHE1 (19q13.31) / BMP5 (6p12.1)RANBP2 (2q12.3) / BMP5 (6p12.1)
BMP5 6p12.1 / COL21A1 6p12.1ETHE1 19q13.31 / BMP5 6p12.1RANBP2 2q12.3 / BMP5 6p12.1

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(2;6)(q13;p12) RANBP2/BMP5
BMP5/COL21A1 (6p12)
t(6;19)(p12;q13) ETHE1/BMP5


External links

Nomenclature
HGNC (Hugo)BMP5   1072
Cards
Entrez_Gene (NCBI)BMP5  653  bone morphogenetic protein 5
Aliases
GeneCards (Weizmann)BMP5
Ensembl hg19 (Hinxton)ENSG00000112175 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000112175 [Gene_View]  ENSG00000112175 [Sequence]  chr6:55753653-55875590 [Contig_View]  BMP5 [Vega]
ICGC DataPortalENSG00000112175
TCGA cBioPortalBMP5
AceView (NCBI)BMP5
Genatlas (Paris)BMP5
WikiGenes653
SOURCE (Princeton)BMP5
Genetics Home Reference (NIH)BMP5
Genomic and cartography
GoldenPath hg38 (UCSC)BMP5  -     chr6:55753653-55875590 -  6p12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BMP5  -     6p12.1   [Description]    (hg19-Feb_2009)
EnsemblBMP5 - 6p12.1 [CytoView hg19]  BMP5 - 6p12.1 [CytoView hg38]
Mapping of homologs : NCBIBMP5 [Mapview hg19]  BMP5 [Mapview hg38]
OMIM112265   
Gene and transcription
Genbank (Entrez)AK291559 AK303576 BC027958 BE501543 BQ025899
RefSeq transcript (Entrez)NM_001329754 NM_001329756 NM_021073
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BMP5
Cluster EST : UnigeneHs.656729 [ NCBI ]
CGAP (NCI)Hs.656729
Alternative Splicing GalleryENSG00000112175
Gene ExpressionBMP5 [ NCBI-GEO ]   BMP5 [ EBI - ARRAY_EXPRESS ]   BMP5 [ SEEK ]   BMP5 [ MEM ]
Gene Expression Viewer (FireBrowse)BMP5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)653
GTEX Portal (Tissue expression)BMP5
Human Protein AtlasENSG00000112175-BMP5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP22003   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP22003  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP22003
Splice isoforms : SwissVarP22003
PhosPhoSitePlusP22003
Domaine pattern : Prosite (Expaxy)TGF_BETA_1 (PS00250)    TGF_BETA_2 (PS51362)   
Domains : Interpro (EBI)Cystine-knot_cytokine    TGF-b_C    TGF-b_propeptide    TGF-beta-rel    TGFb_CS   
Domain families : Pfam (Sanger)TGF_beta (PF00019)    TGFb_propeptide (PF00688)   
Domain families : Pfam (NCBI)pfam00019    pfam00688   
Domain families : Smart (EMBL)TGFB (SM00204)  
Conserved Domain (NCBI)BMP5
DMDM Disease mutations653
Blocks (Seattle)BMP5
SuperfamilyP22003
Human Protein Atlas [tissue]ENSG00000112175-BMP5 [tissue]
Peptide AtlasP22003
HPRD00210
IPIIPI00024886   IPI00909086   
Protein Interaction databases
DIP (DOE-UCLA)P22003
IntAct (EBI)P22003
FunCoupENSG00000112175
BioGRIDBMP5
STRING (EMBL)BMP5
ZODIACBMP5
Ontologies - Pathways
QuickGOP22003
Ontology : AmiGOskeletal system development  ossification  endocardial cushion formation  type B pancreatic cell development  pericardium morphogenesis  cytokine activity  transforming growth factor beta receptor binding  cellular_component  extracellular space  extracellular space  pattern specification process  growth factor activity  positive regulation of cell proliferation  negative regulation of cell proliferation  regulation of signaling receptor activity  negative regulation of epithelial to mesenchymal transition  positive regulation of pathway-restricted SMAD protein phosphorylation  positive regulation of pathway-restricted SMAD protein phosphorylation  negative regulation of steroid biosynthetic process  neural fold elevation formation  BMP signaling pathway  male genitalia development  hindbrain development  vesicle  negative regulation of aldosterone biosynthetic process  regulation of apoptotic process  regulation of MAPK cascade  negative regulation of insulin-like growth factor receptor signaling pathway  ear development  positive regulation of transcription by RNA polymerase II  cell development  cardiac muscle tissue development  positive regulation of epithelial cell proliferation  cartilage development  pharyngeal system development  SMAD protein signal transduction  cardiac septum morphogenesis  chorio-allantoic fusion  heart trabecula morphogenesis  BMP receptor binding  BMP receptor binding  negative regulation of mononuclear cell migration  anterior head development  positive regulation of dendrite development  negative regulation of extrinsic apoptotic signaling pathway via death domain receptors  allantois development  negative regulation of cortisol biosynthetic process  
Ontology : EGO-EBIskeletal system development  ossification  endocardial cushion formation  type B pancreatic cell development  pericardium morphogenesis  cytokine activity  transforming growth factor beta receptor binding  cellular_component  extracellular space  extracellular space  pattern specification process  growth factor activity  positive regulation of cell proliferation  negative regulation of cell proliferation  regulation of signaling receptor activity  negative regulation of epithelial to mesenchymal transition  positive regulation of pathway-restricted SMAD protein phosphorylation  positive regulation of pathway-restricted SMAD protein phosphorylation  negative regulation of steroid biosynthetic process  neural fold elevation formation  BMP signaling pathway  male genitalia development  hindbrain development  vesicle  negative regulation of aldosterone biosynthetic process  regulation of apoptotic process  regulation of MAPK cascade  negative regulation of insulin-like growth factor receptor signaling pathway  ear development  positive regulation of transcription by RNA polymerase II  cell development  cardiac muscle tissue development  positive regulation of epithelial cell proliferation  cartilage development  pharyngeal system development  SMAD protein signal transduction  cardiac septum morphogenesis  chorio-allantoic fusion  heart trabecula morphogenesis  BMP receptor binding  BMP receptor binding  negative regulation of mononuclear cell migration  anterior head development  positive regulation of dendrite development  negative regulation of extrinsic apoptotic signaling pathway via death domain receptors  allantois development  negative regulation of cortisol biosynthetic process  
Pathways : KEGGTGF-beta signaling pathway    Hippo signaling pathway   
NDEx NetworkBMP5
Atlas of Cancer Signalling NetworkBMP5
Wikipedia pathwaysBMP5
Orthology - Evolution
OrthoDB653
GeneTree (enSembl)ENSG00000112175
Phylogenetic Trees/Animal Genes : TreeFamBMP5
HOVERGENP22003
HOGENOMP22003
Homologs : HomoloGeneBMP5
Homology/Alignments : Family Browser (UCSC)BMP5
Gene fusions - Rearrangements
Fusion : MitelmanBMP5/COL21A1 [6p12.1/6p12.1]  
Fusion : MitelmanETHE1/BMP5 [19q13.31/6p12.1]  [t(6;19)(p12;q13)]  
Fusion : MitelmanRANBP2/BMP5 [2q12.3/6p12.1]  [t(2;6)(q13;p12)]  
Fusion PortalBMP5 6p12.1 COL21A1 6p12.1 LUAD
Fusion PortalETHE1 19q13.31 BMP5 6p12.1 LUAD
Fusion PortalRANBP2 2q12.3 BMP5 6p12.1 BRCA
Fusion : QuiverBMP5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBMP5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BMP5
dbVarBMP5
ClinVarBMP5
1000_GenomesBMP5 
Exome Variant ServerBMP5
ExAC (Exome Aggregation Consortium)ENSG00000112175
GNOMAD BrowserENSG00000112175
Varsome BrowserBMP5
Genetic variants : HAPMAP653
Genomic Variants (DGV)BMP5 [DGVbeta]
DECIPHERBMP5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBMP5 
Mutations
ICGC Data PortalBMP5 
TCGA Data PortalBMP5 
Broad Tumor PortalBMP5
OASIS PortalBMP5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBMP5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBMP5
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 BMP5
DgiDB (Drug Gene Interaction Database)BMP5
DoCM (Curated mutations)BMP5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BMP5 (select a term)
intoGenBMP5
Cancer3DBMP5(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM112265   
Orphanet
DisGeNETBMP5
MedgenBMP5
Genetic Testing Registry BMP5
NextProtP22003 [Medical]
TSGene653
GENETestsBMP5
Target ValidationBMP5
Huge Navigator BMP5 [HugePedia]
snp3D : Map Gene to Disease653
BioCentury BCIQBMP5
ClinGenBMP5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD653
Chemical/Pharm GKB GenePA25382
Clinical trialBMP5
Miscellaneous
canSAR (ICR)BMP5 (select the gene name)
Probes
Litterature
PubMed39 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBMP5
EVEXBMP5
GoPubMedBMP5
iHOPBMP5
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 : Tue Nov 6 10:54:15 CET 2018

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.