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MYL12B (myosin light chain 12B)

Identity

Alias_namesmyosin, light chain 12B, regulatory
Alias_symbol (synonym)MRLC2
Other aliasMLC-B
HGNC (Hugo) MYL12B
LocusID (NCBI) 103910
Atlas_Id 70613
Location 18p11.31  [Link to chromosome band 18p11]
Location_base_pair Starts at 3262613 and ends at 3278284 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)
PTPN2 (18p11.21) / MYL12B (18p11.31)

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)MYL12B   29827
Cards
Entrez_Gene (NCBI)MYL12B  103910  myosin light chain 12B
AliasesMLC-B; MRLC2
GeneCards (Weizmann)MYL12B
Ensembl hg19 (Hinxton)ENSG00000118680 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000118680 [Gene_View]  chr18:3262613-3278284 [Contig_View]  MYL12B [Vega]
ICGC DataPortalENSG00000118680
TCGA cBioPortalMYL12B
AceView (NCBI)MYL12B
Genatlas (Paris)MYL12B
WikiGenes103910
SOURCE (Princeton)MYL12B
Genetics Home Reference (NIH)MYL12B
Genomic and cartography
GoldenPath hg38 (UCSC)MYL12B  -     chr18:3262613-3278284 +  18p11.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MYL12B  -     18p11.31   [Description]    (hg19-Feb_2009)
EnsemblMYL12B - 18p11.31 [CytoView hg19]  MYL12B - 18p11.31 [CytoView hg38]
Mapping of homologs : NCBIMYL12B [Mapview hg19]  MYL12B [Mapview hg38]
OMIM609211   
Gene and transcription
Genbank (Entrez)AK291726 AV714583 AY320408 BC004994 BG696903
RefSeq transcript (Entrez)NM_001144944 NM_001144945 NM_001144946 NM_033546
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MYL12B
Cluster EST : UnigeneHs.464472 [ NCBI ]
CGAP (NCI)Hs.464472
Alternative Splicing GalleryENSG00000118680
Gene ExpressionMYL12B [ NCBI-GEO ]   MYL12B [ EBI - ARRAY_EXPRESS ]   MYL12B [ SEEK ]   MYL12B [ MEM ]
Gene Expression Viewer (FireBrowse)MYL12B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)103910
GTEX Portal (Tissue expression)MYL12B
Human Protein AtlasENSG00000118680-MYL12B [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14950   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14950  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14950
Splice isoforms : SwissVarO14950
PhosPhoSitePlusO14950
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_DJBP    EF_hand_dom   
Domain families : Pfam (Sanger)EF-hand_11 (PF08976)    EF-hand_6 (PF13405)   
Domain families : Pfam (NCBI)pfam08976    pfam13405   
Domain families : Smart (EMBL)EFh (SM00054)  
Conserved Domain (NCBI)MYL12B
DMDM Disease mutations103910
Blocks (Seattle)MYL12B
SuperfamilyO14950
Human Protein Atlas [tissue]ENSG00000118680-MYL12B [tissue]
Peptide AtlasO14950
HPRD10095
IPIIPI00033494   IPI00719669   
Protein Interaction databases
DIP (DOE-UCLA)O14950
IntAct (EBI)O14950
FunCoupENSG00000118680
BioGRIDMYL12B
STRING (EMBL)MYL12B
ZODIACMYL12B
Ontologies - Pathways
QuickGOO14950
Ontology : AmiGOstress fiber  calcium ion binding  protein binding  cytosol  brush border  muscle contraction  regulation of cell shape  myosin II complex  Z disc  myosin heavy chain binding  apical part of cell  extracellular exosome  
Ontology : EGO-EBIstress fiber  calcium ion binding  protein binding  cytosol  brush border  muscle contraction  regulation of cell shape  myosin II complex  Z disc  myosin heavy chain binding  apical part of cell  extracellular exosome  
Pathways : KEGGFocal adhesion    Tight junction    Leukocyte transendothelial migration    Regulation of actin cytoskeleton   
NDEx NetworkMYL12B
Atlas of Cancer Signalling NetworkMYL12B
Wikipedia pathwaysMYL12B
Orthology - Evolution
OrthoDB103910
GeneTree (enSembl)ENSG00000118680
Phylogenetic Trees/Animal Genes : TreeFamMYL12B
HOVERGENO14950
HOGENOMO14950
Homologs : HomoloGeneMYL12B
Homology/Alignments : Family Browser (UCSC)MYL12B
Gene fusions - Rearrangements
Tumor Fusion PortalMYL12B
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMYL12B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MYL12B
dbVarMYL12B
ClinVarMYL12B
1000_GenomesMYL12B 
Exome Variant ServerMYL12B
ExAC (Exome Aggregation Consortium)ENSG00000118680
GNOMAD BrowserENSG00000118680
Genetic variants : HAPMAP103910
Genomic Variants (DGV)MYL12B [DGVbeta]
DECIPHERMYL12B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMYL12B 
Mutations
ICGC Data PortalMYL12B 
TCGA Data PortalMYL12B 
Broad Tumor PortalMYL12B
OASIS PortalMYL12B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMYL12B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMYL12B
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MYL12B
DgiDB (Drug Gene Interaction Database)MYL12B
DoCM (Curated mutations)MYL12B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MYL12B (select a term)
intoGenMYL12B
Cancer3DMYL12B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609211   
Orphanet
DisGeNETMYL12B
MedgenMYL12B
Genetic Testing Registry MYL12B
NextProtO14950 [Medical]
TSGene103910
GENETestsMYL12B
Target ValidationMYL12B
Huge Navigator MYL12B [HugePedia]
snp3D : Map Gene to Disease103910
BioCentury BCIQMYL12B
ClinGenMYL12B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD103910
Chemical/Pharm GKB GenePA164723274
Clinical trialMYL12B
Miscellaneous
canSAR (ICR)MYL12B (select the gene name)
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMYL12B
EVEXMYL12B
GoPubMedMYL12B
iHOPMYL12B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:37:51 CET 2017

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