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MLPH (melanophilin)

Identity

Alias (NCBI)SLAC2-A
HGNC (Hugo) MLPH
HGNC Alias symbl1Rk3
l(1)-3Rk
Slac-2a
ln
exophilin-3
LocusID (NCBI) 79083
Atlas_Id 57673
Location 2q37.3  [Link to chromosome band 2q37]
Location_base_pair Starts at 237487251 and ends at 237555322 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)
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
Cards
Entrez_Gene (NCBI)MLPH    melanophilin
AliasesSLAC2-A
GeneCards (Weizmann)MLPH
Ensembl hg19 (Hinxton)ENSG00000115648 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000115648 [Gene_View]  ENSG00000115648 [Sequence]  chr2:237487251-237555322 [Contig_View]  MLPH [Vega]
ICGC DataPortalENSG00000115648
TCGA cBioPortalMLPH
AceView (NCBI)MLPH
Genatlas (Paris)MLPH
SOURCE (Princeton)MLPH
Genetics Home Reference (NIH)MLPH
Genomic and cartography
GoldenPath hg38 (UCSC)MLPH  -     chr2:237487251-237555322 +  2q37.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MLPH  -     2q37.3   [Description]    (hg19-Feb_2009)
GoldenPathMLPH - 2q37.3 [CytoView hg19]  MLPH - 2q37.3 [CytoView hg38]
ImmunoBaseENSG00000115648
Genome Data Viewer NCBIMLPH [Mapview hg19]  
OMIM606526   609227   
Gene and transcription
Genbank (Entrez)AK022207 AK056867 AK094168 AK225381 AK292929
RefSeq transcript (Entrez)NM_001042467 NM_001281473 NM_001281474 NM_024101
Consensus coding sequences : CCDS (NCBI)MLPH
Gene ExpressionMLPH [ NCBI-GEO ]   MLPH [ EBI - ARRAY_EXPRESS ]   MLPH [ SEEK ]   MLPH [ MEM ]
Gene Expression Viewer (FireBrowse)MLPH [ Firebrowse - Broad ]
GenevisibleExpression of MLPH in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79083
GTEX Portal (Tissue expression)MLPH
Human Protein AtlasENSG00000115648-MLPH [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ9BV36
Domaine pattern : Prosite (Expaxy)RABBD (PS50916)   
Domains : Interpro (EBI)FYVE_2    Melanophilin_FYVE-rel_dom    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
SuperfamilyQ9BV36
AlphaFold pdb e-kbQ9BV36   
Human Protein Atlas [tissue]ENSG00000115648-MLPH [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q9BV36
IntAct (EBI)Q9BV36
BioGRIDMLPH
STRING (EMBL)MLPH
ZODIACMLPH
Ontologies - Pathways
QuickGOQ9BV36
Ontology : AmiGOactin binding  protein binding  intracellular protein transport  myosin binding  myosin binding  dendrite  protein-macromolecule adaptor activity  cortical actin cytoskeleton  small GTPase binding  melanosome transport  metal ion binding  perinuclear region of cytoplasm  extracellular exosome  
Ontology : EGO-EBIactin binding  protein binding  intracellular protein transport  myosin binding  myosin binding  dendrite  protein-macromolecule adaptor activity  cortical actin cytoskeleton  small GTPase binding  melanosome transport  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
Homologs : HomoloGeneMLPH
Homology/Alignments : Family Browser (UCSC)MLPH
Gene fusions - Rearrangements
Fusion : QuiverMLPH
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMLPH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MLPH
dbVarMLPH
ClinVarMLPH
MonarchMLPH
1000_GenomesMLPH 
Exome Variant ServerMLPH
GNOMAD BrowserENSG00000115648
Varsome BrowserMLPH
ACMGMLPH variants
VarityQ9BV36
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]  
Somatic Mutations in Cancer : COSMIC3DMLPH
Mutations and Diseases : HGMDMLPH
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaMLPH
DgiDB (Drug Gene Interaction Database)MLPH
DoCM (Curated mutations)MLPH
CIViC (Clinical Interpretations of Variants in Cancer)MLPH
Cancer3DMLPH
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606526    609227   
Orphanet
DisGeNETMLPH
MedgenMLPH
Genetic Testing Registry MLPH
NextProtQ9BV36 [Medical]
GENETestsMLPH
Target ValidationMLPH
Huge Navigator MLPH [HugePedia]
ClinGenMLPH
Clinical trials, drugs, therapy
MyCancerGenomeMLPH
Protein Interactions : CTDMLPH
Pharm GKB GenePA134899891
PharosQ9BV36
Clinical trialMLPH
Miscellaneous
canSAR (ICR)MLPH
HarmonizomeMLPH
DataMed IndexMLPH
Probes
Litterature
PubMed42 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXMLPH
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 : Mon Oct 4 15:20:59 CEST 2021

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