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MLPH (melanophilin)

Identity

Alias_symbol (synonym)l1Rk3
l(1)-3Rk
Slac-2a
ln
exophilin-3
Other aliasSLAC2-A
HGNC (Hugo) MLPH
LocusID (NCBI) 79083
Atlas_Id 70345
Location 2q37.3  [Link to chromosome band 2q37]
Location_base_pair Starts at 237487219 and ends at 237555318 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BOLA2 (16p11.2) / MLPH (2q37.3)LRRFIP1 (2q37.3) / MLPH (2q37.3)MLPH (2q37.3) / PRDM12 (9q34.12)
PLPP1 (5q11.2) / MLPH (2q37.3)RABGAP1 (9q33.2) / MLPH (2q37.3)SNED1 (2q37.3) / MLPH (2q37.3)

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)MLPH   29643
LRG (Locus Reference Genomic)LRG_83
Cards
Entrez_Gene (NCBI)MLPH  79083  melanophilin
AliasesSLAC2-A
GeneCards (Weizmann)MLPH
Ensembl hg19 (Hinxton)ENSG00000115648 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000115648 [Gene_View]  chr2:237487219-237555318 [Contig_View]  MLPH [Vega]
ICGC DataPortalENSG00000115648
TCGA cBioPortalMLPH
AceView (NCBI)MLPH
Genatlas (Paris)MLPH
WikiGenes79083
SOURCE (Princeton)MLPH
Genetics Home Reference (NIH)MLPH
Genomic and cartography
GoldenPath hg38 (UCSC)MLPH  -     chr2:237487219-237555318 +  2q37.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MLPH  -     2q37.3   [Description]    (hg19-Feb_2009)
EnsemblMLPH - 2q37.3 [CytoView hg19]  MLPH - 2q37.3 [CytoView hg38]
Mapping of homologs : NCBIMLPH [Mapview hg19]  MLPH [Mapview hg38]
OMIM606526   609227   
Gene and transcription
Genbank (Entrez)AK022207 AK056867 AK094168 AK225381 AK292929
RefSeq transcript (Entrez)NM_001042467 NM_001281473 NM_001281474 NM_024101
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MLPH
Cluster EST : UnigeneHs.102406 [ NCBI ]
CGAP (NCI)Hs.102406
Alternative Splicing GalleryENSG00000115648
Gene ExpressionMLPH [ NCBI-GEO ]   MLPH [ EBI - ARRAY_EXPRESS ]   MLPH [ SEEK ]   MLPH [ MEM ]
Gene Expression Viewer (FireBrowse)MLPH [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79083
GTEX Portal (Tissue expression)MLPH
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BV36   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BV36  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BV36
Splice isoforms : SwissVarQ9BV36
PhosPhoSitePlusQ9BV36
Domaine pattern : Prosite (Expaxy)RABBD (PS50916)   
Domains : Interpro (EBI)Myrip/Melanophilin    Rab_BD    Znf_FYVE_PHD    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)FYVE_2 (PF02318)    Rab_eff_C (PF04698)   
Domain families : Pfam (NCBI)pfam02318    pfam04698   
Conserved Domain (NCBI)MLPH
DMDM Disease mutations79083
Blocks (Seattle)MLPH
SuperfamilyQ9BV36
Human Protein AtlasENSG00000115648
Peptide AtlasQ9BV36
HPRD09409
IPIIPI00012201   IPI00328101   IPI01013259   IPI00982558   IPI00432129   IPI00902442   IPI00917358   IPI00916260   IPI00916163   IPI00916006   IPI00917905   IPI00916630   IPI00916409   
Protein Interaction databases
DIP (DOE-UCLA)Q9BV36
IntAct (EBI)Q9BV36
FunCoupENSG00000115648
BioGRIDMLPH
STRING (EMBL)MLPH
ZODIACMLPH
Ontologies - Pathways
QuickGOQ9BV36
Ontology : AmiGOprotein binding  intracellular protein transport  Rab GTPase binding  dendrite  metal ion binding  perinuclear region of cytoplasm  extracellular exosome  
Ontology : EGO-EBIprotein binding  intracellular protein transport  Rab GTPase binding  dendrite  metal ion binding  perinuclear region of cytoplasm  extracellular exosome  
NDEx NetworkMLPH
Atlas of Cancer Signalling NetworkMLPH
Wikipedia pathwaysMLPH
Orthology - Evolution
OrthoDB79083
GeneTree (enSembl)ENSG00000115648
Phylogenetic Trees/Animal Genes : TreeFamMLPH
HOVERGENQ9BV36
HOGENOMQ9BV36
Homologs : HomoloGeneMLPH
Homology/Alignments : Family Browser (UCSC)MLPH
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMLPH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MLPH
dbVarMLPH
ClinVarMLPH
1000_GenomesMLPH 
Exome Variant ServerMLPH
ExAC (Exome Aggregation Consortium)MLPH (select the gene name)
Genetic variants : HAPMAP79083
Genomic Variants (DGV)MLPH [DGVbeta]
DECIPHERMLPH [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMLPH 
Mutations
ICGC Data PortalMLPH 
TCGA Data PortalMLPH 
Broad Tumor PortalMLPH
OASIS PortalMLPH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMLPH  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMLPH
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
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch MLPH
DgiDB (Drug Gene Interaction Database)MLPH
DoCM (Curated mutations)MLPH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MLPH (select a term)
intoGenMLPH
Cancer3DMLPH(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606526    609227   
Orphanet11504   
MedgenMLPH
Genetic Testing Registry MLPH
NextProtQ9BV36 [Medical]
TSGene79083
GENETestsMLPH
Target ValidationMLPH
Huge Navigator MLPH [HugePedia]
snp3D : Map Gene to Disease79083
BioCentury BCIQMLPH
ClinGenMLPH
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79083
Chemical/Pharm GKB GenePA134899891
Clinical trialMLPH
Miscellaneous
canSAR (ICR)MLPH (select the gene name)
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMLPH
EVEXMLPH
GoPubMedMLPH
iHOPMLPH
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 : Wed May 31 15:31:08 CEST 2017

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