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TM6SF2 (transmembrane 6 superfamily member 2)

Identity

Alias (NCBI)-
HGNC (Hugo) TM6SF2
HGNC Alias symbLpr4
LocusID (NCBI) 53345
Atlas_Id 57136
Location 19p13.11  [Link to chromosome band 19p13]
Location_base_pair Starts at 19264366 and ends at 19273301 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)

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)TM6SF2   11861
Cards
Entrez_Gene (NCBI)TM6SF2    transmembrane 6 superfamily member 2
Aliases
GeneCards (Weizmann)TM6SF2
Ensembl hg19 (Hinxton)ENSG00000213996 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000213996 [Gene_View]  ENSG00000213996 [Sequence]  chr19:19264366-19273301 [Contig_View]  TM6SF2 [Vega]
ICGC DataPortalENSG00000213996
TCGA cBioPortalTM6SF2
AceView (NCBI)TM6SF2
Genatlas (Paris)TM6SF2
SOURCE (Princeton)TM6SF2
Genetics Home Reference (NIH)TM6SF2
Genomic and cartography
GoldenPath hg38 (UCSC)TM6SF2  -     chr19:19264366-19273301 -  19p13.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TM6SF2  -     19p13.11   [Description]    (hg19-Feb_2009)
GoldenPathTM6SF2 - 19p13.11 [CytoView hg19]  TM6SF2 - 19p13.11 [CytoView hg38]
ImmunoBaseENSG00000213996
Genome Data Viewer NCBITM6SF2 [Mapview hg19]  
OMIM606563   
Gene and transcription
Genbank (Entrez)AF255923 AK024515 AK026307 AK097070 BC120986
RefSeq transcript (Entrez)NM_001001524 NM_203510
Consensus coding sequences : CCDS (NCBI)TM6SF2
Gene ExpressionTM6SF2 [ NCBI-GEO ]   TM6SF2 [ EBI - ARRAY_EXPRESS ]   TM6SF2 [ SEEK ]   TM6SF2 [ MEM ]
Gene Expression Viewer (FireBrowse)TM6SF2 [ Firebrowse - Broad ]
GenevisibleExpression of TM6SF2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)53345
GTEX Portal (Tissue expression)TM6SF2
Human Protein AtlasENSG00000213996-TM6SF2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BZW4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BZW4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BZW4
PhosPhoSitePlusQ9BZW4
Domaine pattern : Prosite (Expaxy)EXPERA (PS51751)   
Domains : Interpro (EBI)EXPERA   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)TM6SF2
SuperfamilyQ9BZW4
AlphaFold pdb e-kbQ9BZW4   
Human Protein Atlas [tissue]ENSG00000213996-TM6SF2 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q9BZW4
IntAct (EBI)Q9BZW4
BioGRIDTM6SF2
STRING (EMBL)TM6SF2
ZODIACTM6SF2
Ontologies - Pathways
QuickGOQ9BZW4
Ontology : AmiGOmolecular_function  protein binding  endoplasmic reticulum membrane  endoplasmic reticulum membrane  lipid metabolic process  integral component of membrane  regulation of lipid metabolic process  regulation of lipid metabolic process  endoplasmic reticulum-Golgi intermediate compartment membrane  endoplasmic reticulum-Golgi intermediate compartment membrane  identical protein binding  lipid homeostasis  
Ontology : EGO-EBImolecular_function  protein binding  endoplasmic reticulum membrane  endoplasmic reticulum membrane  lipid metabolic process  integral component of membrane  regulation of lipid metabolic process  regulation of lipid metabolic process  endoplasmic reticulum-Golgi intermediate compartment membrane  endoplasmic reticulum-Golgi intermediate compartment membrane  identical protein binding  lipid homeostasis  
NDEx NetworkTM6SF2
Atlas of Cancer Signalling NetworkTM6SF2
Wikipedia pathwaysTM6SF2
Orthology - Evolution
OrthoDB53345
GeneTree (enSembl)ENSG00000213996
Phylogenetic Trees/Animal Genes : TreeFamTM6SF2
Homologs : HomoloGeneTM6SF2
Homology/Alignments : Family Browser (UCSC)TM6SF2
Gene fusions - Rearrangements
Fusion : QuiverTM6SF2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTM6SF2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TM6SF2
dbVarTM6SF2
ClinVarTM6SF2
MonarchTM6SF2
1000_GenomesTM6SF2 
Exome Variant ServerTM6SF2
GNOMAD BrowserENSG00000213996
Varsome BrowserTM6SF2
ACMGTM6SF2 variants
VarityQ9BZW4
Genomic Variants (DGV)TM6SF2 [DGVbeta]
DECIPHERTM6SF2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTM6SF2 
Mutations
ICGC Data PortalTM6SF2 
TCGA Data PortalTM6SF2 
Broad Tumor PortalTM6SF2
OASIS PortalTM6SF2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTM6SF2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTM6SF2
Mutations and Diseases : HGMDTM6SF2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTM6SF2
DgiDB (Drug Gene Interaction Database)TM6SF2
DoCM (Curated mutations)TM6SF2
CIViC (Clinical Interpretations of Variants in Cancer)TM6SF2
Cancer3DTM6SF2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606563   
Orphanet
DisGeNETTM6SF2
MedgenTM6SF2
Genetic Testing Registry TM6SF2
NextProtQ9BZW4 [Medical]
GENETestsTM6SF2
Target ValidationTM6SF2
Huge Navigator TM6SF2 [HugePedia]
ClinGenTM6SF2
Clinical trials, drugs, therapy
MyCancerGenomeTM6SF2
Protein Interactions : CTDTM6SF2
Pharm GKB GenePA36562
PharosQ9BZW4
Clinical trialTM6SF2
Miscellaneous
canSAR (ICR)TM6SF2
HarmonizomeTM6SF2
DataMed IndexTM6SF2
Probes
Litterature
PubMed80 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTM6SF2
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 15:35:17 CEST 2021

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