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    Tmem240 transmembrane protein 240 [ Mus musculus (house mouse) ]

    Gene ID: 381582, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Tmem240provided by MGI
    Official Full Name
    transmembrane protein 240provided by MGI
    Primary source
    MGI:MGI:3648074
    See related
    Ensembl:ENSMUSG00000084845 AllianceGenome:MGI:3648074
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Gm5151; EG381582
    Summary
    Located in TMEM240-body and synaptic membrane. Is active in cerebellar climbing fiber to Purkinje cell synapse; parallel fiber to Purkinje cell synapse; and postsynaptic density membrane. Human ortholog(s) of this gene implicated in spinocerebellar ataxia type 21. Orthologous to human TMEM240 (transmembrane protein 240). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in cerebellum adult (RPKM 12.9), cortex adult (RPKM 7.0) and 9 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Tmem240 in Genome Data Viewer
    Location:
    4 E2; 4 87.18 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (155818336..155825025)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (155734804..155740564)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_12271 Neighboring gene fibronectin type III domain containing 10 Neighboring gene STARR-positive B cell enhancer ABC_E6297 Neighboring gene STARR-seq mESC enhancer starr_12272 Neighboring gene Ssu72 RNA polymerase II CTD phosphatase homolog (yeast) Neighboring gene STARR-seq mESC enhancer starr_12273 Neighboring gene predicted gene, 22573 Neighboring gene RIKEN cDNA 1500002C15 gene Neighboring gene ATPase family, AAA domain containing 3A Neighboring gene STARR-positive B cell enhancer ABC_E4739 Neighboring gene ATPase family, AAA domain containing 3A, opposite strand

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. The TMEM240 Protein, Mutated in SCA21, Is Expressed in Purkinje Cells and Synaptic Terminals. Homa M, et al. Cerebellum, 2020 Jun. PMID 32002801
    2. Global identification and characterization of both O-GlcNAcylation and phosphorylation at the murine synapse. Trinidad JC, et al. Mol Cell Proteomics, 2012 Aug. PMID 22645316, Free PMC Article
    3. Neural-specific distribution of transmembrane protein TMEM240 and formation of TMEM240-Body. Hu Q, et al. Int J Biol Macromol, 2020 Oct 15. PMID 32535204
    4. Loss of zinc-finger protein 212 leads to Purkinje cell death and locomotive abnormalities with phospholipase D3 downregulation. Khang R, et al. Sci Rep, 2021 Nov 23. PMID 34815492, Free PMC Article
    5. USP7 represses lineage differentiation genes in mouse embryonic stem cells by both catalytic and noncatalytic activities. Liu C, et al. Sci Adv, 2023 May 19. PMID 37196079, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Neural-specific distribution of transmembrane protein TMEM240 and formation of TMEM240-Body.
      Title: Neural-specific distribution of transmembrane protein TMEM240 and formation of TMEM240-Body.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (1) 
    • Endonuclease-mediated (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    located_in TMEM240-body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cerebellar climbing fiber to Purkinje cell synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in parallel fiber to Purkinje cell synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in postsynaptic density membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in synaptic membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in synaptic membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transmembrane protein 240

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001101506.1 → NP_001094976.1  transmembrane protein 240

      See identical proteins and their annotated locations for NP_001094976.1

      Status: VALIDATED

      Source sequence(s)
      AL670236, AU255417, BY725301, CJ116478, CJ257322
      Consensus CDS
      CCDS51403.1
      UniProtKB/Swiss-Prot
      B2RWJ3
      Related
      ENSMUSP00000127341.3, ENSMUST00000127188.3
      Conserved Domains (1) summary
      pfam15207
      Location:1 → 173
      TMEM240; TMEM240 family

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      155818336..155825025
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036164215.1 → XP_036020108.1  transmembrane protein 240 isoform X3

      Conserved Domains (1) summary
      pfam15207
      Location:158 → 212
      TMEM240; TMEM240 family

    2. XM_036164213.1 → XP_036020106.1  transmembrane protein 240 isoform X1

      Conserved Domains (1) summary
      pfam15207
      Location:158 → 338
      TMEM240; TMEM240 family

    3. XM_036164214.1 → XP_036020107.1  transmembrane protein 240 isoform X2

      Conserved Domains (1) summary
      pfam15207
      Location:158 → 212
      TMEM240; TMEM240 family

    4. XM_036164217.1 → XP_036020110.1  transmembrane protein 240 isoform X5

      Conserved Domains (1) summary
      pfam15207
      Location:158 → 212
      TMEM240; TMEM240 family

    5. XM_036164216.1 → XP_036020109.1  transmembrane protein 240 isoform X4

      Conserved Domains (1) summary
      pfam15207
      Location:158 → 212
      TMEM240; TMEM240 family
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    B2RWJ3.1 GenPept UniProtKB/Swiss-Prot:B2RWJ3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials