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MPZ (myelin protein zero)

Identity

Alias_namesCMT1
CMT1B
Charcot-Marie-Tooth neuropathy 1B
Alias_symbol (synonym)HMSNIB
CMT2I
CMT2J
Other aliasCHM
CMT4E
CMTDI3
CMTDID
DSS
MPP
P0
HGNC (Hugo) MPZ
LocusID (NCBI) 4359
Atlas_Id 70401
Location 1q23.3  [Link to chromosome band 1q23]
Location_base_pair Starts at 161274525 and ends at 161279762 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)MPZ   7225
LRG (Locus Reference Genomic)LRG_256
Cards
Entrez_Gene (NCBI)MPZ  4359  myelin protein zero
AliasesCHM; CMT1; CMT1B; CMT2I; 
CMT2J; CMT4E; CMTDI3; CMTDID; DSS; HMSNIB; MPP; P0
GeneCards (Weizmann)MPZ
Ensembl hg19 (Hinxton)ENSG00000158887 [Gene_View]  chr1:161274525-161279762 [Contig_View]  MPZ [Vega]
Ensembl hg38 (Hinxton)ENSG00000158887 [Gene_View]  chr1:161274525-161279762 [Contig_View]  MPZ [Vega]
ICGC DataPortalENSG00000158887
TCGA cBioPortalMPZ
AceView (NCBI)MPZ
Genatlas (Paris)MPZ
WikiGenes4359
SOURCE (Princeton)MPZ
Genetics Home Reference (NIH)MPZ
Genomic and cartography
GoldenPath hg19 (UCSC)MPZ  -     chr1:161274525-161279762 -  1q23.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MPZ  -     1q23.3   [Description]    (hg38-Dec_2013)
EnsemblMPZ - 1q23.3 [CytoView hg19]  MPZ - 1q23.3 [CytoView hg38]
Mapping of homologs : NCBIMPZ [Mapview hg19]  MPZ [Mapview hg38]
OMIM118200   145900   159440   180800   605253   607677   607736   607791   
Gene and transcription
Genbank (Entrez)AK313555 BC006491 BF509916 BT006765 CD515400
RefSeq transcript (Entrez)NM_000530
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_008055 NT_004487 NW_004929293
Consensus coding sequences : CCDS (NCBI)MPZ
Cluster EST : UnigeneHs.591486 [ NCBI ]
CGAP (NCI)Hs.591486
Alternative Splicing GalleryENSG00000158887
Gene ExpressionMPZ [ NCBI-GEO ]   MPZ [ EBI - ARRAY_EXPRESS ]   MPZ [ SEEK ]   MPZ [ MEM ]
Gene Expression Viewer (FireBrowse)MPZ [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4359
GTEX Portal (Tissue expression)MPZ
Protein : pattern, domain, 3D structure
UniProt/SwissProtP25189   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP25189  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP25189
Splice isoforms : SwissVarP25189
PhosPhoSitePlusP25189
Domaine pattern : Prosite (Expaxy)IG_LIKE (PS50835)    MYELIN_P0 (PS00568)   
Domains : Interpro (EBI)Ig-like_dom    Ig-like_fold    Ig_V-set    Myelin-PO_C    Myelin_P0_CS    Myelin_P0_rel    P0   
Domain families : Pfam (Sanger)Myelin-PO_C (PF10570)    V-set (PF07686)   
Domain families : Pfam (NCBI)pfam10570    pfam07686   
Domain families : Smart (EMBL)IGv (SM00406)  
Conserved Domain (NCBI)MPZ
DMDM Disease mutations4359
Blocks (Seattle)MPZ
PDB (SRS)1N2P    3OAI   
PDB (PDBSum)1N2P    3OAI   
PDB (IMB)1N2P    3OAI   
PDB (RSDB)1N2P    3OAI   
Structural Biology KnowledgeBase1N2P    3OAI   
SCOP (Structural Classification of Proteins)1N2P    3OAI   
CATH (Classification of proteins structures)1N2P    3OAI   
SuperfamilyP25189
Human Protein AtlasENSG00000158887
Peptide AtlasP25189
HPRD01159
IPIIPI00844448   IPI00478921   IPI00976050   
Protein Interaction databases
DIP (DOE-UCLA)P25189
IntAct (EBI)P25189
FunCoupENSG00000158887
BioGRIDMPZ
STRING (EMBL)MPZ
ZODIACMPZ
Ontologies - Pathways
QuickGOP25189
Ontology : AmiGOstructural molecule activity  plasma membrane  integral component of plasma membrane  synaptic transmission  myelin sheath  cell-cell junction maintenance  
Ontology : EGO-EBIstructural molecule activity  plasma membrane  integral component of plasma membrane  synaptic transmission  myelin sheath  cell-cell junction maintenance  
Pathways : KEGGCell adhesion molecules (CAMs)   
NDEx NetworkMPZ
Atlas of Cancer Signalling NetworkMPZ
Wikipedia pathwaysMPZ
Orthology - Evolution
OrthoDB4359
GeneTree (enSembl)ENSG00000158887
Phylogenetic Trees/Animal Genes : TreeFamMPZ
HOVERGENP25189
HOGENOMP25189
Homologs : HomoloGeneMPZ
Homology/Alignments : Family Browser (UCSC)MPZ
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMPZ [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MPZ
dbVarMPZ
ClinVarMPZ
1000_GenomesMPZ 
Exome Variant ServerMPZ
ExAC (Exome Aggregation Consortium)MPZ (select the gene name)
Genetic variants : HAPMAP4359
Genomic Variants (DGV)MPZ [DGVbeta]
DECIPHER (Syndromes)1:161274525-161279762  ENSG00000158887
CONAN: Copy Number AnalysisMPZ 
Mutations
ICGC Data PortalMPZ 
TCGA Data PortalMPZ 
Broad Tumor PortalMPZ
OASIS PortalMPZ [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMPZ  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMPZ
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)SpainMDB
BioMutasearch MPZ
DgiDB (Drug Gene Interaction Database)MPZ
DoCM (Curated mutations)MPZ (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MPZ (select a term)
intoGenMPZ
Cancer3DMPZ(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM118200    145900    159440    180800    605253    607677    607736    607791   
Orphanet2789    21789    10852    14793    14619    14515    14516   
MedgenMPZ
Genetic Testing Registry MPZ
NextProtP25189 [Medical]
TSGene4359
GENETestsMPZ
Huge Navigator MPZ [HugePedia]
snp3D : Map Gene to Disease4359
BioCentury BCIQMPZ
ClinGenMPZ
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4359
Chemical/Pharm GKB GenePA30930
Clinical trialMPZ
Miscellaneous
canSAR (ICR)MPZ (select the gene name)
Probes
Litterature
PubMed140 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMPZ
EVEXMPZ
GoPubMedMPZ
iHOPMPZ
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:33:32 CET 2017

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