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TMLHE (trimethyllysine hydroxylase, epsilon)

Identity

Alias_names2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2
Alias_symbol (synonym)TMLH
FLJ10727
BBOX2
XAP130
Other aliasAUTSX6
TMLD
TMLHED
HGNC (Hugo) TMLHE
LocusID (NCBI) 55217
Atlas_Id 54716
Location Xq28  [Link to chromosome band Xq28]
Location_base_pair Starts at 155492535 and ends at 155612961 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
TMLHE (Xq28) / NEDD9 (6p24.2)TMLHE Xq28 / NEDD9 6p24.2

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)TMLHE   18308
Cards
Entrez_Gene (NCBI)TMLHE  55217  trimethyllysine hydroxylase, epsilon
AliasesAUTSX6; BBOX2; TMLD; TMLH; 
TMLHED; XAP130
GeneCards (Weizmann)TMLHE
Ensembl hg19 (Hinxton)ENSG00000185973 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000185973 [Gene_View]  chrX:155492535-155612961 [Contig_View]  TMLHE [Vega]
ICGC DataPortalENSG00000185973
TCGA cBioPortalTMLHE
AceView (NCBI)TMLHE
Genatlas (Paris)TMLHE
WikiGenes55217
SOURCE (Princeton)TMLHE
Genetics Home Reference (NIH)TMLHE
Genomic and cartography
GoldenPath hg38 (UCSC)TMLHE  -     chrX:155492535-155612961 -  Xq28   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMLHE  -     Xq28   [Description]    (hg19-Feb_2009)
EnsemblTMLHE - Xq28 [CytoView hg19]  TMLHE - Xq28 [CytoView hg38]
Mapping of homologs : NCBITMLHE [Mapview hg19]  TMLHE [Mapview hg38]
OMIM300777   300872   
Gene and transcription
Genbank (Entrez)AF373407 AK001589 AK291694 AK304830 AK310667
RefSeq transcript (Entrez)NM_001184797 NM_018196
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TMLHE
Cluster EST : UnigeneHs.133321 [ NCBI ]
CGAP (NCI)Hs.133321
Alternative Splicing GalleryENSG00000185973
Gene ExpressionTMLHE [ NCBI-GEO ]   TMLHE [ EBI - ARRAY_EXPRESS ]   TMLHE [ SEEK ]   TMLHE [ MEM ]
Gene Expression Viewer (FireBrowse)TMLHE [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55217
GTEX Portal (Tissue expression)TMLHE
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NVH6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NVH6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NVH6
Splice isoforms : SwissVarQ9NVH6
Catalytic activity : Enzyme1.14.11.8 [ Enzyme-Expasy ]   1.14.11.81.14.11.8 [ IntEnz-EBI ]   1.14.11.8 [ BRENDA ]   1.14.11.8 [ KEGG ]   
PhosPhoSitePlusQ9NVH6
Domains : Interpro (EBI)DUF971    TauD/TfdA-like    Trimethyllysine_dOase   
Domain families : Pfam (Sanger)DUF971 (PF06155)    TauD (PF02668)   
Domain families : Pfam (NCBI)pfam06155    pfam02668   
Conserved Domain (NCBI)TMLHE
DMDM Disease mutations55217
Blocks (Seattle)TMLHE
SuperfamilyQ9NVH6
Human Protein AtlasENSG00000185973
Peptide AtlasQ9NVH6
HPRD06743
IPIIPI00301224   IPI00382858   
Protein Interaction databases
DIP (DOE-UCLA)Q9NVH6
IntAct (EBI)Q9NVH6
FunCoupENSG00000185973
BioGRIDTMLHE
STRING (EMBL)TMLHE
ZODIACTMLHE
Ontologies - Pathways
QuickGOQ9NVH6
Ontology : AmiGOiron ion binding  mitochondrion  mitochondrial matrix  oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen  L-ascorbic acid binding  carnitine biosynthetic process  carnitine biosynthetic process  carnitine biosynthetic process  trimethyllysine dioxygenase activity  trimethyllysine dioxygenase activity  oxidation-reduction process  
Ontology : EGO-EBIiron ion binding  mitochondrion  mitochondrial matrix  oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen  L-ascorbic acid binding  carnitine biosynthetic process  carnitine biosynthetic process  carnitine biosynthetic process  trimethyllysine dioxygenase activity  trimethyllysine dioxygenase activity  oxidation-reduction process  
Pathways : KEGGLysine degradation   
NDEx NetworkTMLHE
Atlas of Cancer Signalling NetworkTMLHE
Wikipedia pathwaysTMLHE
Orthology - Evolution
OrthoDB55217
GeneTree (enSembl)ENSG00000185973
Phylogenetic Trees/Animal Genes : TreeFamTMLHE
HOVERGENQ9NVH6
HOGENOMQ9NVH6
Homologs : HomoloGeneTMLHE
Homology/Alignments : Family Browser (UCSC)TMLHE
Gene fusions - Rearrangements
Fusion : MitelmanTMLHE/NEDD9 [Xq28/6p24.2]  
Fusion: TCGATMLHE Xq28 NEDD9 6p24.2 HNSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMLHE [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMLHE
dbVarTMLHE
ClinVarTMLHE
1000_GenomesTMLHE 
Exome Variant ServerTMLHE
ExAC (Exome Aggregation Consortium)TMLHE (select the gene name)
Genetic variants : HAPMAP55217
Genomic Variants (DGV)TMLHE [DGVbeta]
DECIPHERTMLHE [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTMLHE 
Mutations
ICGC Data PortalTMLHE 
TCGA Data PortalTMLHE 
Broad Tumor PortalTMLHE
OASIS PortalTMLHE [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMLHE  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTMLHE
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)X-chromosome gene database
BioMutasearch TMLHE
DgiDB (Drug Gene Interaction Database)TMLHE
DoCM (Curated mutations)TMLHE (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMLHE (select a term)
intoGenTMLHE
Cancer3DTMLHE(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300777    300872   
Orphanet
MedgenTMLHE
Genetic Testing Registry TMLHE
NextProtQ9NVH6 [Medical]
TSGene55217
GENETestsTMLHE
Target ValidationTMLHE
Huge Navigator TMLHE [HugePedia]
snp3D : Map Gene to Disease55217
BioCentury BCIQTMLHE
ClinGenTMLHE (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55217
Chemical/Pharm GKB GenePA38311
Clinical trialTMLHE
Miscellaneous
canSAR (ICR)TMLHE (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTMLHE
EVEXTMLHE
GoPubMedTMLHE
iHOPTMLHE
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:17:12 CEST 2017

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