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MYLPF (myosin light chain, phosphorylatable, fast skeletal muscle)

Identity

Alias (NCBI)HUMMLC2B
MLC2B
MRLC2
MYL11
HGNC (Hugo) MYLPF
HGNC Alias symbMRLC2
HUMMLC2B
MYL11
HGNC Alias namemyosin, light chain 11, regulatory
 myosin regulatory light chain 2
LocusID (NCBI) 29895
Atlas_Id 70623
Location 16p11.2  [Link to chromosome band 16p11]
Location_base_pair Starts at 30374777 and ends at 30377991 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)
BCO2 (11q23.1) / MYLPF (16p11.2)MYLPF (16p11.2) / BCO2 (11q23.1)MYLPF (16p11.2) / HBG1 (11p15.4)
MYLPF (16p11.2) / TCF4 (18q21.2)SBF1 (22q13.33) / MYLPF (16p11.2)

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)MYLPF   29824
Cards
Entrez_Gene (NCBI)MYLPF    myosin light chain, phosphorylatable, fast skeletal muscle
AliasesHUMMLC2B; MLC2B; MRLC2; MYL11
GeneCards (Weizmann)MYLPF
Ensembl hg19 (Hinxton)ENSG00000180209 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000180209 [Gene_View]  ENSG00000180209 [Sequence]  chr16:30374777-30377991 [Contig_View]  MYLPF [Vega]
ICGC DataPortalENSG00000180209
TCGA cBioPortalMYLPF
AceView (NCBI)MYLPF
Genatlas (Paris)MYLPF
SOURCE (Princeton)MYLPF
Genetics Home Reference (NIH)MYLPF
Genomic and cartography
GoldenPath hg38 (UCSC)MYLPF  -     chr16:30374777-30377991 +  16p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MYLPF  -     16p11.2   [Description]    (hg19-Feb_2009)
GoldenPathMYLPF - 16p11.2 [CytoView hg19]  MYLPF - 16p11.2 [CytoView hg38]
ImmunoBaseENSG00000180209
genome Data Viewer NCBIMYLPF [Mapview hg19]  
OMIM617378   
Gene and transcription
Genbank (Entrez)AA662706 AF363061 AK314082 BC012571 BI828249
RefSeq transcript (Entrez)NM_001324458 NM_001324459 NM_013292
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MYLPF
Alternative Splicing GalleryENSG00000180209
Gene ExpressionMYLPF [ NCBI-GEO ]   MYLPF [ EBI - ARRAY_EXPRESS ]   MYLPF [ SEEK ]   MYLPF [ MEM ]
Gene Expression Viewer (FireBrowse)MYLPF [ Firebrowse - Broad ]
GenevisibleExpression of MYLPF in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)29895
GTEX Portal (Tissue expression)MYLPF
Human Protein AtlasENSG00000180209-MYLPF [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96A32   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96A32  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96A32
Splice isoforms : SwissVarQ96A32
PhosPhoSitePlusQ96A32
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom   
Domain families : Pfam (Sanger)EF-hand_6 (PF13405)   
Domain families : Pfam (NCBI)pfam13405   
Domain families : Smart (EMBL)EFh (SM00054)  
Conserved Domain (NCBI)MYLPF
Blocks (Seattle)MYLPF
SuperfamilyQ96A32
Human Protein Atlas [tissue]ENSG00000180209-MYLPF [tissue]
Peptide AtlasQ96A32
HPRD13721
IPIIPI00002352   
Protein Interaction databases
DIP (DOE-UCLA)Q96A32
IntAct (EBI)Q96A32
BioGRIDMYLPF
STRING (EMBL)MYLPF
ZODIACMYLPF
Ontologies - Pathways
QuickGOQ96A32
Ontology : AmiGOcalcium ion binding  lysosomal membrane  cytosol  muscle myosin complex  muscle contraction  immune response  skeletal muscle tissue development  structural constituent of muscle  
Ontology : EGO-EBIcalcium ion binding  lysosomal membrane  cytosol  muscle myosin complex  muscle contraction  immune response  skeletal muscle tissue development  structural constituent of muscle  
NDEx NetworkMYLPF
Atlas of Cancer Signalling NetworkMYLPF
Wikipedia pathwaysMYLPF
Orthology - Evolution
OrthoDB29895
GeneTree (enSembl)ENSG00000180209
Phylogenetic Trees/Animal Genes : TreeFamMYLPF
HOGENOMQ96A32
Homologs : HomoloGeneMYLPF
Homology/Alignments : Family Browser (UCSC)MYLPF
Gene fusions - Rearrangements
Fusion : QuiverMYLPF
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMYLPF [hg38]
dbVarMYLPF
ClinVarMYLPF
MonarchMYLPF
1000_GenomesMYLPF 
Exome Variant ServerMYLPF
GNOMAD BrowserENSG00000180209
Varsome BrowserMYLPF
Genomic Variants (DGV)MYLPF [DGVbeta]
DECIPHERMYLPF [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMYLPF 
Mutations
ICGC Data PortalMYLPF 
TCGA Data PortalMYLPF 
Broad Tumor PortalMYLPF
OASIS PortalMYLPF [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMYLPF  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DMYLPF
Mutations and Diseases : HGMDMYLPF
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 MYLPF
DgiDB (Drug Gene Interaction Database)MYLPF
DoCM (Curated mutations)MYLPF (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MYLPF (select a term)
intoGenMYLPF
Cancer3DMYLPF(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617378   
Orphanet
DisGeNETMYLPF
MedgenMYLPF
Genetic Testing Registry MYLPF
NextProtQ96A32 [Medical]
GENETestsMYLPF
Target ValidationMYLPF
Huge Navigator MYLPF [HugePedia]
ClinGenMYLPF
Clinical trials, drugs, therapy
MyCancerGenomeMYLPF
Protein Interactions : CTD
Pharm GKB GenePA164723287
Clinical trialMYLPF
Miscellaneous
canSAR (ICR)MYLPF (select the gene name)
HarmonizomeMYLPF
DataMed IndexMYLPF
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMYLPF
EVEXMYLPF
GoPubMedMYLPF
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Dec 5 17:18:32 CET 2020
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