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TM7SF2 (transmembrane 7 superfamily member 2)

Identity

Alias (NCBI)ANG1
C14SR
DHCR14A
NET47
HGNC (Hugo) TM7SF2
HGNC Alias symbANG1
DHCR14A
NET47
HGNC Alias namedelta(14)-sterol reductase
LocusID (NCBI) 7108
Atlas_Id 74738
Location 11q13.1  [Link to chromosome band 11q13]
Location_base_pair Starts at 65111872 and ends at 65116408 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    transmembrane 7 superfamily member 2
AliasesANG1; C14SR; DHCR14A; NET47
GeneCards (Weizmann)TM7SF2
Ensembl hg19 (Hinxton)ENSG00000149809 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000149809 [Gene_View]  ENSG00000149809 [Sequence]  chr11:65111872-65116408 [Contig_View]  TM7SF2 [Vega]
ICGC DataPortalENSG00000149809
TCGA cBioPortalTM7SF2
AceView (NCBI)TM7SF2
Genatlas (Paris)TM7SF2
SOURCE (Princeton)TM7SF2
Genetics Home Reference (NIH)TM7SF2
Genomic and cartography
GoldenPath hg38 (UCSC)TM7SF2  -     chr11:65111872-65116408 +  11q13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TM7SF2  -     11q13.1   [Description]    (hg19-Feb_2009)
GoldenPathTM7SF2 - 11q13.1 [CytoView hg19]  TM7SF2 - 11q13.1 [CytoView hg38]
ImmunoBaseENSG00000149809
Genome Data Viewer NCBITM7SF2 [Mapview hg19]  
OMIM603414   
Gene and transcription
Genbank (Entrez)AF023676 AF096304 AK290935 AK296441 BC009052
RefSeq transcript (Entrez)NM_001277233 NM_003273
Consensus coding sequences : CCDS (NCBI)TM7SF2
Gene ExpressionTM7SF2 [ NCBI-GEO ]   TM7SF2 [ EBI - ARRAY_EXPRESS ]   TM7SF2 [ SEEK ]   TM7SF2 [ MEM ]
Gene Expression Viewer (FireBrowse)TM7SF2 [ Firebrowse - Broad ]
GenevisibleExpression of TM7SF2 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
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
SuperfamilyO76062
AlphaFold pdb e-kbO76062   
Human Protein Atlas [tissue]ENSG00000149809-TM7SF2 [tissue]
HPRD04564
Protein Interaction databases
DIP (DOE-UCLA)O76062
IntAct (EBI)O76062
BioGRIDTM7SF2
STRING (EMBL)TM7SF2
ZODIACTM7SF2
Ontologies - Pathways
QuickGOO76062
Ontology : AmiGOprotein binding  nuclear inner membrane  endoplasmic reticulum  endoplasmic reticulum membrane  integral component of plasma membrane  cholesterol biosynthetic process  cholesterol biosynthetic process  cholesterol biosynthetic process  sterol biosynthetic process  oxidoreductase activity, acting on the CH-CH group of donors  regulation of lipid metabolic process  integral component of endoplasmic reticulum membrane  intracellular membrane-bounded organelle  receptor complex  delta14-sterol reductase activity  NADP binding  
Ontology : EGO-EBIprotein binding  nuclear inner membrane  endoplasmic reticulum  endoplasmic reticulum membrane  integral component of plasma membrane  cholesterol biosynthetic process  cholesterol biosynthetic process  cholesterol biosynthetic process  sterol biosynthetic process  oxidoreductase activity, acting on the CH-CH group of donors  regulation of lipid metabolic process  integral component of endoplasmic reticulum membrane  intracellular membrane-bounded organelle  receptor complex  delta14-sterol reductase activity  NADP binding  
NDEx NetworkTM7SF2
Atlas of Cancer Signalling NetworkTM7SF2
Wikipedia pathwaysTM7SF2
Orthology - Evolution
OrthoDB7108
GeneTree (enSembl)ENSG00000149809
Phylogenetic Trees/Animal Genes : TreeFamTM7SF2
Homologs : HomoloGeneTM7SF2
Homology/Alignments : Family Browser (UCSC)TM7SF2
Gene fusions - Rearrangements
Fusion : QuiverTM7SF2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTM7SF2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TM7SF2
dbVarTM7SF2
ClinVarTM7SF2
MonarchTM7SF2
1000_GenomesTM7SF2 
Exome Variant ServerTM7SF2
GNOMAD BrowserENSG00000149809
Varsome BrowserTM7SF2
ACMGTM7SF2 variants
VarityO76062
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]  
Somatic Mutations in Cancer : COSMIC3DTM7SF2
Mutations and Diseases : HGMDTM7SF2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTM7SF2
DgiDB (Drug Gene Interaction Database)TM7SF2
DoCM (Curated mutations)TM7SF2
CIViC (Clinical Interpretations of Variants in Cancer)TM7SF2
Cancer3DTM7SF2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603414   
Orphanet
DisGeNETTM7SF2
MedgenTM7SF2
Genetic Testing Registry TM7SF2
NextProtO76062 [Medical]
GENETestsTM7SF2
Target ValidationTM7SF2
Huge Navigator TM7SF2 [HugePedia]
ClinGenTM7SF2
Clinical trials, drugs, therapy
MyCancerGenomeTM7SF2
Protein Interactions : CTDTM7SF2
Pharm GKB GenePA36564
PharosO76062
Clinical trialTM7SF2
Miscellaneous
canSAR (ICR)TM7SF2
HarmonizomeTM7SF2
DataMed IndexTM7SF2
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTM7SF2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 16:25:38 CEST 2021

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