Human Gene TMEM240 (ENST00000378733.9_7) from GENCODE V47lift37
  Description: transmembrane protein 240 (from RefSeq NM_001114748.2)
Gencode Transcript: ENST00000378733.9_7
Gencode Gene: ENSG00000205090.10_10
Transcript (Including UTRs)
   Position: hg19 chr1:1,470,158-1,476,004 Size: 5,847 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr1:1,470,739-1,475,726 Size: 4,988 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:1,470,158-1,476,004)mRNA (may differ from genome)Protein (173 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TM240_HUMAN
DESCRIPTION: RecName: Full=Transmembrane protein 240;
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential).
SIMILARITY: Belongs to the TMEM240 family.
SEQUENCE CAUTION: Sequence=CAI22949.1; Type=Erroneous gene model prediction;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TMEM240
Diseases sorted by gene-association score: spinocerebellar ataxia 21* (1721), ataxia (14), cerebellar ataxia (2)
* = Manually curated disease association

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 36.47 RPKM in Brain - Cerebellum
Total median expression: 368.47 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -177.80278-0.640 Picture PostScript Text
3' UTR -293.20581-0.505 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF15207 - TMEM240 family

ModBase Predicted Comparative 3D Structure on Q5SV17
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Cellular Component:
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0045202 synapse
GO:0097060 synaptic membrane


-  Descriptions from all associated GenBank mRNAs
  BC147018 - Homo sapiens chromosome 1 open reading frame 70, mRNA (cDNA clone MGC:182121 IMAGE:9056946), complete cds.
BC147020 - Homo sapiens chromosome 1 open reading frame 70, mRNA (cDNA clone MGC:182123 IMAGE:9056948), complete cds.

-  Other Names for This Gene
  Alternate Gene Symbols: B9EJG7, C1orf70, ENST00000378733.1, ENST00000378733.2, ENST00000378733.3, ENST00000378733.4, ENST00000378733.5, ENST00000378733.6, ENST00000378733.7, ENST00000378733.8, NM_001114748, Q5SV17, TM240_HUMAN, uc318omq.1, uc318omq.2
UCSC ID: ENST00000378733.9_7
RefSeq Accession: NM_001114748.2
Protein: Q5SV17 (aka TM240_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene TMEM240:
ataxias (Hereditary Ataxia Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.