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TMEM119 (transmembrane protein 119)

Identity

Other aliasOBIF
HGNC (Hugo) TMEM119
LocusID (NCBI) 338773
Atlas_Id 54707
Location 12q23.3  [Link to chromosome band 12q23]
Location_base_pair Starts at 108589846 and ends at 108598118 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PIKFYVE (2q34) / TMEM119 (12q23.3)TMEM119 (12q23.3) / ARIH2 (3p21.31)TMEM119 (12q23.3) / GAK (4p16.3)

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)TMEM119   27884
Cards
Entrez_Gene (NCBI)TMEM119  338773  transmembrane protein 119
AliasesOBIF
GeneCards (Weizmann)TMEM119
Ensembl hg19 (Hinxton)ENSG00000183160 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000183160 [Gene_View]  chr12:108589846-108598118 [Contig_View]  TMEM119 [Vega]
ICGC DataPortalENSG00000183160
TCGA cBioPortalTMEM119
AceView (NCBI)TMEM119
Genatlas (Paris)TMEM119
WikiGenes338773
SOURCE (Princeton)TMEM119
Genetics Home Reference (NIH)TMEM119
Genomic and cartography
GoldenPath hg38 (UCSC)TMEM119  -     chr12:108589846-108598118 -  12q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMEM119  -     12q23.3   [Description]    (hg19-Feb_2009)
EnsemblTMEM119 - 12q23.3 [CytoView hg19]  TMEM119 - 12q23.3 [CytoView hg38]
Mapping of homologs : NCBITMEM119 [Mapview hg19]  TMEM119 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK075501 AK097290 AK295288 AK301202 AL521683
RefSeq transcript (Entrez)NM_181724
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TMEM119
Cluster EST : UnigeneHs.449718 [ NCBI ]
CGAP (NCI)Hs.449718
Alternative Splicing GalleryENSG00000183160
Gene ExpressionTMEM119 [ NCBI-GEO ]   TMEM119 [ EBI - ARRAY_EXPRESS ]   TMEM119 [ SEEK ]   TMEM119 [ MEM ]
Gene Expression Viewer (FireBrowse)TMEM119 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)338773
GTEX Portal (Tissue expression)TMEM119
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ4V9L6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ4V9L6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ4V9L6
Splice isoforms : SwissVarQ4V9L6
PhosPhoSitePlusQ4V9L6
Domains : Interpro (EBI)TMEM119   
Domain families : Pfam (Sanger)TMEM119 (PF15724)   
Domain families : Pfam (NCBI)pfam15724   
Conserved Domain (NCBI)TMEM119
DMDM Disease mutations338773
Blocks (Seattle)TMEM119
SuperfamilyQ4V9L6
Human Protein AtlasENSG00000183160
Peptide AtlasQ4V9L6
HPRD11260
IPIIPI00296147   IPI01018885   IPI00909406   IPI01021730   IPI01021598   IPI01021403   
Protein Interaction databases
DIP (DOE-UCLA)Q4V9L6
IntAct (EBI)Q4V9L6
FunCoupENSG00000183160
BioGRIDTMEM119
STRING (EMBL)TMEM119
ZODIACTMEM119
Ontologies - Pathways
QuickGOQ4V9L6
Ontology : AmiGOosteoblast differentiation  molecular_function  cellular_component  endoplasmic reticulum membrane  plasma membrane  spermatogenesis  biological_process  integral component of membrane  positive regulation of bone mineralization  biomineral tissue development  positive regulation of osteoblast proliferation  positive regulation of osteoblast differentiation  spermatid differentiation  positive regulation of bone development  
Ontology : EGO-EBIosteoblast differentiation  molecular_function  cellular_component  endoplasmic reticulum membrane  plasma membrane  spermatogenesis  biological_process  integral component of membrane  positive regulation of bone mineralization  biomineral tissue development  positive regulation of osteoblast proliferation  positive regulation of osteoblast differentiation  spermatid differentiation  positive regulation of bone development  
NDEx NetworkTMEM119
Atlas of Cancer Signalling NetworkTMEM119
Wikipedia pathwaysTMEM119
Orthology - Evolution
OrthoDB338773
GeneTree (enSembl)ENSG00000183160
Phylogenetic Trees/Animal Genes : TreeFamTMEM119
HOVERGENQ4V9L6
HOGENOMQ4V9L6
Homologs : HomoloGeneTMEM119
Homology/Alignments : Family Browser (UCSC)TMEM119
Gene fusions - Rearrangements
Fusion : MitelmanPIKFYVE/TMEM119 [2q34/12q23.3]  [t(2;12)(q34;q23)]  
Fusion : MitelmanTMEM119/ARIH2 [12q23.3/3p21.31]  [t(3;12)(p21;q23)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMEM119 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMEM119
dbVarTMEM119
ClinVarTMEM119
1000_GenomesTMEM119 
Exome Variant ServerTMEM119
ExAC (Exome Aggregation Consortium)TMEM119 (select the gene name)
Genetic variants : HAPMAP338773
Genomic Variants (DGV)TMEM119 [DGVbeta]
DECIPHERTMEM119 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTMEM119 
Mutations
ICGC Data PortalTMEM119 
TCGA Data PortalTMEM119 
Broad Tumor PortalTMEM119
OASIS PortalTMEM119 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMEM119  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTMEM119
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TMEM119
DgiDB (Drug Gene Interaction Database)TMEM119
DoCM (Curated mutations)TMEM119 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMEM119 (select a term)
intoGenTMEM119
Cancer3DTMEM119(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenTMEM119
Genetic Testing Registry TMEM119
NextProtQ4V9L6 [Medical]
TSGene338773
GENETestsTMEM119
Target ValidationTMEM119
Huge Navigator TMEM119 [HugePedia]
snp3D : Map Gene to Disease338773
BioCentury BCIQTMEM119
ClinGenTMEM119
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD338773
Chemical/Pharm GKB GenePA143485640
Clinical trialTMEM119
Miscellaneous
canSAR (ICR)TMEM119 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTMEM119
EVEXTMEM119
GoPubMedTMEM119
iHOPTMEM119
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 14:09:54 CEST 2017

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