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PMEL (premelanosome protein)

Identity

Alias_namesSIL
SILV
silver (mouse homolog) like
silver homolog (mouse)
Alias_symbol (synonym)D12S53E
SI
Pmel17
gp100
Other aliasME20
ME20-M
ME20M
P1
P100
PMEL17
HGNC (Hugo) PMEL
LocusID (NCBI) 6490
Atlas_Id 51925
Location 12q13.2  [Link to chromosome band 12q13]
Location_base_pair Starts at 55954105 and ends at 55966062 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
AC020907.3 () / PMEL (12q13.2)ETV6 (12p13.2) / PMEL (12q13.2)PMEL (12q13.2) / ANKLE2 (12q24.33)
PMEL (12q13.2) / DPCD (10q24.32)PMEL (12q13.2) / MAP4 (3p21.31)PMEL (12q13.2) / MXI1 (10q25.2)
AC020907.3 PMEL 12q13.2

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)PMEL   10880
Cards
Entrez_Gene (NCBI)PMEL  6490  premelanosome protein
AliasesD12S53E; ME20; ME20-M; ME20M; 
P1; P100; PMEL17; SI; SIL; SILV; gp100
GeneCards (Weizmann)PMEL
Ensembl hg19 (Hinxton)ENSG00000185664 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000185664 [Gene_View]  chr12:55954105-55966062 [Contig_View]  PMEL [Vega]
ICGC DataPortalENSG00000185664
TCGA cBioPortalPMEL
AceView (NCBI)PMEL
Genatlas (Paris)PMEL
WikiGenes6490
SOURCE (Princeton)PMEL
Genetics Home Reference (NIH)PMEL
Genomic and cartography
GoldenPath hg38 (UCSC)PMEL  -     chr12:55954105-55966062 -  12q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PMEL  -     12q13.2   [Description]    (hg19-Feb_2009)
EnsemblPMEL - 12q13.2 [CytoView hg19]  PMEL - 12q13.2 [CytoView hg38]
Mapping of homologs : NCBIPMEL [Mapview hg19]  PMEL [Mapview hg38]
OMIM155550   
Gene and transcription
Genbank (Entrez)AK092881 AK130180 AK300150 BC001414 BT007202
RefSeq transcript (Entrez)NM_001200053 NM_001200054 NM_001320121 NM_001320122 NM_006928
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PMEL
Cluster EST : UnigeneHs.95972 [ NCBI ]
CGAP (NCI)Hs.95972
Alternative Splicing GalleryENSG00000185664
Gene ExpressionPMEL [ NCBI-GEO ]   PMEL [ EBI - ARRAY_EXPRESS ]   PMEL [ SEEK ]   PMEL [ MEM ]
Gene Expression Viewer (FireBrowse)PMEL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6490
GTEX Portal (Tissue expression)PMEL
Protein : pattern, domain, 3D structure
UniProt/SwissProtP40967   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP40967  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP40967
Splice isoforms : SwissVarP40967
PhosPhoSitePlusP40967
Domaine pattern : Prosite (Expaxy)PKD (PS50093)   
Domains : Interpro (EBI)PKD/Chitinase_dom    PKD_dom   
Domain families : Pfam (Sanger)PKD (PF00801)   
Domain families : Pfam (NCBI)pfam00801   
Domain families : Smart (EMBL)PKD (SM00089)  
Conserved Domain (NCBI)PMEL
DMDM Disease mutations6490
Blocks (Seattle)PMEL
PDB (SRS)1TVB    1TVH    3CC5    4IS6    5EU3    5EU4    5EU6   
PDB (PDBSum)1TVB    1TVH    3CC5    4IS6    5EU3    5EU4    5EU6   
PDB (IMB)1TVB    1TVH    3CC5    4IS6    5EU3    5EU4    5EU6   
PDB (RSDB)1TVB    1TVH    3CC5    4IS6    5EU3    5EU4    5EU6   
Structural Biology KnowledgeBase1TVB    1TVH    3CC5    4IS6    5EU3    5EU4    5EU6   
SCOP (Structural Classification of Proteins)1TVB    1TVH    3CC5    4IS6    5EU3    5EU4    5EU6   
CATH (Classification of proteins structures)1TVB    1TVH    3CC5    4IS6    5EU3    5EU4    5EU6   
SuperfamilyP40967
Human Protein AtlasENSG00000185664
Peptide AtlasP40967
HPRD01117
IPIIPI00031630   IPI00952617   IPI00795159   IPI00952781   IPI00797732   IPI01022466   IPI01022944   IPI01022799   IPI01021096   IPI01021314   IPI01021796   IPI01025650   IPI01021588   
Protein Interaction databases
DIP (DOE-UCLA)P40967
IntAct (EBI)P40967
FunCoupENSG00000185664
BioGRIDPMEL
STRING (EMBL)PMEL
ZODIACPMEL
Ontologies - Pathways
QuickGOP40967
Ontology : AmiGOprotein binding  extracellular region  multivesicular body  endoplasmic reticulum membrane  Golgi apparatus  plasma membrane  integral component of plasma membrane  melanosome organization  multivesicular body membrane  melanin biosynthetic process  melanosome  developmental pigmentation  
Ontology : EGO-EBIprotein binding  extracellular region  multivesicular body  endoplasmic reticulum membrane  Golgi apparatus  plasma membrane  integral component of plasma membrane  melanosome organization  multivesicular body membrane  melanin biosynthetic process  melanosome  developmental pigmentation  
NDEx NetworkPMEL
Atlas of Cancer Signalling NetworkPMEL
Wikipedia pathwaysPMEL
Orthology - Evolution
OrthoDB6490
GeneTree (enSembl)ENSG00000185664
Phylogenetic Trees/Animal Genes : TreeFamPMEL
HOVERGENP40967
HOGENOMP40967
Homologs : HomoloGenePMEL
Homology/Alignments : Family Browser (UCSC)PMEL
Gene fusions - Rearrangements
Fusion: TCGAAC020907.3 PMEL 12q13.2 SKCM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPMEL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PMEL
dbVarPMEL
ClinVarPMEL
1000_GenomesPMEL 
Exome Variant ServerPMEL
ExAC (Exome Aggregation Consortium)PMEL (select the gene name)
Genetic variants : HAPMAP6490
Genomic Variants (DGV)PMEL [DGVbeta]
DECIPHERPMEL [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPMEL 
Mutations
ICGC Data PortalPMEL 
TCGA Data PortalPMEL 
Broad Tumor PortalPMEL
OASIS PortalPMEL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPMEL  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPMEL
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 PMEL
DgiDB (Drug Gene Interaction Database)PMEL
DoCM (Curated mutations)PMEL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PMEL (select a term)
intoGenPMEL
Cancer3DPMEL(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM155550   
Orphanet
MedgenPMEL
Genetic Testing Registry PMEL
NextProtP40967 [Medical]
TSGene6490
GENETestsPMEL
Huge Navigator PMEL [HugePedia]
snp3D : Map Gene to Disease6490
BioCentury BCIQPMEL
ClinGenPMEL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6490
Chemical/Pharm GKB GenePA35781
Clinical trialPMEL
Miscellaneous
canSAR (ICR)PMEL (select the gene name)
Probes
Litterature
PubMed73 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePMEL
EVEXPMEL
GoPubMedPMEL
iHOPPMEL
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 : Fri May 19 12:31:45 CEST 2017

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