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TM7SF2 (transmembrane 7 superfamily member 2)

Identity

Alias_symbol (synonym)ANG1
DHCR14A
NET47
Other alias
HGNC (Hugo) TM7SF2
LocusID (NCBI) 7108
Atlas_Id 74738
Location 11q13.1  [Link to chromosome band 11q13]
Location_base_pair Starts at 65111854 and ends at 65116235 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)
TM7SF2 (11q13.1) / PRRG4 (11p13)

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)TM7SF2   11863
Cards
Entrez_Gene (NCBI)TM7SF2  7108  transmembrane 7 superfamily member 2
AliasesANG1; DHCR14A; NET47
GeneCards (Weizmann)TM7SF2
Ensembl hg19 (Hinxton)ENSG00000149809 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000149809 [Gene_View]  chr11:65111854-65116235 [Contig_View]  TM7SF2 [Vega]
ICGC DataPortalENSG00000149809
TCGA cBioPortalTM7SF2
AceView (NCBI)TM7SF2
Genatlas (Paris)TM7SF2
WikiGenes7108
SOURCE (Princeton)TM7SF2
Genetics Home Reference (NIH)TM7SF2
Genomic and cartography
GoldenPath hg38 (UCSC)TM7SF2  -     chr11:65111854-65116235 +  11q13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TM7SF2  -     11q13.1   [Description]    (hg19-Feb_2009)
EnsemblTM7SF2 - 11q13.1 [CytoView hg19]  TM7SF2 - 11q13.1 [CytoView hg38]
Mapping of homologs : NCBITM7SF2 [Mapview hg19]  TM7SF2 [Mapview hg38]
OMIM603414   
Gene and transcription
Genbank (Entrez)AF023676 AF096304 AK290935 AK296441 BC009052
RefSeq transcript (Entrez)NM_001277233 NM_003273
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TM7SF2
Cluster EST : UnigeneHs.31130 [ NCBI ]
CGAP (NCI)Hs.31130
Alternative Splicing GalleryENSG00000149809
Gene ExpressionTM7SF2 [ NCBI-GEO ]   TM7SF2 [ EBI - ARRAY_EXPRESS ]   TM7SF2 [ SEEK ]   TM7SF2 [ MEM ]
Gene Expression Viewer (FireBrowse)TM7SF2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7108
GTEX Portal (Tissue expression)TM7SF2
Human Protein AtlasENSG00000149809-TM7SF2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO76062   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO76062  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO76062
Splice isoforms : SwissVarO76062
Catalytic activity : Enzyme1.3.1.70 [ Enzyme-Expasy ]   1.3.1.701.3.1.70 [ IntEnz-EBI ]   1.3.1.70 [ BRENDA ]   1.3.1.70 [ KEGG ]   
PhosPhoSitePlusO76062
Domaine pattern : Prosite (Expaxy)STEROL_REDUCT_1 (PS01017)    STEROL_REDUCT_2 (PS01018)   
Domains : Interpro (EBI)Ergosterol_biosynth_ERG4_ERG24    Sterol_reductase_CS   
Domain families : Pfam (Sanger)ERG4_ERG24 (PF01222)   
Domain families : Pfam (NCBI)pfam01222   
Conserved Domain (NCBI)TM7SF2
DMDM Disease mutations7108
Blocks (Seattle)TM7SF2
SuperfamilyO76062
Human Protein Atlas [tissue]ENSG00000149809-TM7SF2 [tissue]
Peptide AtlasO76062
HPRD04564
IPIIPI00019018   IPI00334970   IPI01010571   IPI00979777   IPI00984558   IPI00976493   IPI00982674   IPI00982040   IPI00984870   IPI00983071   IPI00980101   IPI00978817   IPI00978203   IPI00980556   IPI00981718   IPI00981434   
Protein Interaction databases
DIP (DOE-UCLA)O76062
IntAct (EBI)O76062
FunCoupENSG00000149809
BioGRIDTM7SF2
STRING (EMBL)TM7SF2
ZODIACTM7SF2
Ontologies - Pathways
QuickGOO76062
Ontology : AmiGOnuclear inner membrane  endoplasmic reticulum  endoplasmic reticulum membrane  integral component of plasma membrane  cholesterol biosynthetic process  sterol biosynthetic process  oxidoreductase activity, acting on the CH-CH group of donors  integral component of endoplasmic reticulum membrane  intracellular membrane-bounded organelle  receptor complex  delta14-sterol reductase activity  NADP binding  oxidation-reduction process  
Ontology : EGO-EBInuclear inner membrane  endoplasmic reticulum  endoplasmic reticulum membrane  integral component of plasma membrane  cholesterol biosynthetic process  sterol biosynthetic process  oxidoreductase activity, acting on the CH-CH group of donors  integral component of endoplasmic reticulum membrane  intracellular membrane-bounded organelle  receptor complex  delta14-sterol reductase activity  NADP binding  oxidation-reduction process  
Pathways : KEGGSteroid biosynthesis   
NDEx NetworkTM7SF2
Atlas of Cancer Signalling NetworkTM7SF2
Wikipedia pathwaysTM7SF2
Orthology - Evolution
OrthoDB7108
GeneTree (enSembl)ENSG00000149809
Phylogenetic Trees/Animal Genes : TreeFamTM7SF2
HOVERGENO76062
HOGENOMO76062
Homologs : HomoloGeneTM7SF2
Homology/Alignments : Family Browser (UCSC)TM7SF2
Gene fusions - Rearrangements
Fusion: Tumor Portal TM7SF2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTM7SF2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TM7SF2
dbVarTM7SF2
ClinVarTM7SF2
1000_GenomesTM7SF2 
Exome Variant ServerTM7SF2
ExAC (Exome Aggregation Consortium)ENSG00000149809
GNOMAD BrowserENSG00000149809
Genetic variants : HAPMAP7108
Genomic Variants (DGV)TM7SF2 [DGVbeta]
DECIPHERTM7SF2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTM7SF2 
Mutations
ICGC Data PortalTM7SF2 
TCGA Data PortalTM7SF2 
Broad Tumor PortalTM7SF2
OASIS PortalTM7SF2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTM7SF2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTM7SF2
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 TM7SF2
DgiDB (Drug Gene Interaction Database)TM7SF2
DoCM (Curated mutations)TM7SF2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TM7SF2 (select a term)
intoGenTM7SF2
Cancer3DTM7SF2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603414   
Orphanet
MedgenTM7SF2
Genetic Testing Registry TM7SF2
NextProtO76062 [Medical]
TSGene7108
GENETestsTM7SF2
Target ValidationTM7SF2
Huge Navigator TM7SF2 [HugePedia]
snp3D : Map Gene to Disease7108
BioCentury BCIQTM7SF2
ClinGenTM7SF2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7108
Chemical/Pharm GKB GenePA36564
Clinical trialTM7SF2
Miscellaneous
canSAR (ICR)TM7SF2 (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTM7SF2
EVEXTM7SF2
GoPubMedTM7SF2
iHOPTM7SF2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 12:32:31 CET 2017

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