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TMEM240 (transmembrane protein 240)

Identity

Alias (NCBI)C1orf70
SCA21
HGNC (Hugo) TMEM240
HGNC Previous nameC1orf70
 SCA21
HGNC Previous namechromosome 1 open reading frame 70
 spinocerebellar ataxia 21
LocusID (NCBI) 339453
Atlas_Id 74904
Location 1p36.33  [Link to chromosome band 1p36]
Location_base_pair Starts at 1534778 and ends at 1540624 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)TMEM240   25186
Cards
Entrez_Gene (NCBI)TMEM240    transmembrane protein 240
AliasesC1orf70; SCA21
GeneCards (Weizmann)TMEM240
Ensembl hg19 (Hinxton)ENSG00000205090 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000205090 [Gene_View]  ENSG00000205090 [Sequence]  chr1:1534778-1540624 [Contig_View]  TMEM240 [Vega]
ICGC DataPortalENSG00000205090
TCGA cBioPortalTMEM240
AceView (NCBI)TMEM240
Genatlas (Paris)TMEM240
SOURCE (Princeton)TMEM240
Genetics Home Reference (NIH)TMEM240
Genomic and cartography
GoldenPath hg38 (UCSC)TMEM240  -     chr1:1534778-1540624 -  1p36.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMEM240  -     1p36.33   [Description]    (hg19-Feb_2009)
GoldenPathTMEM240 - 1p36.33 [CytoView hg19]  TMEM240 - 1p36.33 [CytoView hg38]
ImmunoBaseENSG00000205090
Genome Data Viewer NCBITMEM240 [Mapview hg19]  
OMIM607454   616101   
Gene and transcription
Genbank (Entrez)BC147018 BC147020 BF446167 BU929336 EG328560
RefSeq transcript (Entrez)NM_001114748
Consensus coding sequences : CCDS (NCBI)TMEM240
Gene ExpressionTMEM240 [ NCBI-GEO ]   TMEM240 [ EBI - ARRAY_EXPRESS ]   TMEM240 [ SEEK ]   TMEM240 [ MEM ]
Gene Expression Viewer (FireBrowse)TMEM240 [ Firebrowse - Broad ]
GenevisibleExpression of TMEM240 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)339453
GTEX Portal (Tissue expression)TMEM240
Human Protein AtlasENSG00000205090-TMEM240 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5SV17   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5SV17  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5SV17
PhosPhoSitePlusQ5SV17
Domains : Interpro (EBI)TMEM240   
Domain families : Pfam (Sanger)TMEM240 (PF15207)   
Domain families : Pfam (NCBI)pfam15207   
Conserved Domain (NCBI)TMEM240
SuperfamilyQ5SV17
AlphaFold pdb e-kbQ5SV17   
Human Protein Atlas [tissue]ENSG00000205090-TMEM240 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q5SV17
IntAct (EBI)Q5SV17
BioGRIDTMEM240
STRING (EMBL)TMEM240
ZODIACTMEM240
Ontologies - Pathways
QuickGOQ5SV17
Ontology : AmiGOintegral component of membrane  synaptic membrane  synaptic membrane  
Ontology : EGO-EBIintegral component of membrane  synaptic membrane  synaptic membrane  
NDEx NetworkTMEM240
Atlas of Cancer Signalling NetworkTMEM240
Wikipedia pathwaysTMEM240
Orthology - Evolution
OrthoDB339453
GeneTree (enSembl)ENSG00000205090
Phylogenetic Trees/Animal Genes : TreeFamTMEM240
Homologs : HomoloGeneTMEM240
Homology/Alignments : Family Browser (UCSC)TMEM240
Gene fusions - Rearrangements
Fusion : QuiverTMEM240
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMEM240 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMEM240
dbVarTMEM240
ClinVarTMEM240
MonarchTMEM240
1000_GenomesTMEM240 
Exome Variant ServerTMEM240
GNOMAD BrowserENSG00000205090
Varsome BrowserTMEM240
ACMGTMEM240 variants
VarityQ5SV17
Genomic Variants (DGV)TMEM240 [DGVbeta]
DECIPHERTMEM240 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTMEM240 
Mutations
ICGC Data PortalTMEM240 
TCGA Data PortalTMEM240 
Broad Tumor PortalTMEM240
OASIS PortalTMEM240 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMEM240  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTMEM240
Mutations and Diseases : HGMDTMEM240
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTMEM240
DgiDB (Drug Gene Interaction Database)TMEM240
DoCM (Curated mutations)TMEM240
CIViC (Clinical Interpretations of Variants in Cancer)TMEM240
Cancer3DTMEM240
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607454    616101   
Orphanet13790   
DisGeNETTMEM240
MedgenTMEM240
Genetic Testing Registry TMEM240
NextProtQ5SV17 [Medical]
GENETestsTMEM240
Target ValidationTMEM240
Huge Navigator TMEM240 [HugePedia]
ClinGenTMEM240
Clinical trials, drugs, therapy
MyCancerGenomeTMEM240
Protein Interactions : CTDTMEM240
Pharm GKB GenePA142672520
PharosQ5SV17
Clinical trialTMEM240
Miscellaneous
canSAR (ICR)TMEM240
HarmonizomeTMEM240
DataMed IndexTMEM240
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTMEM240
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 16:26:06 CEST 2021

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