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    Otop2 otopetrin 2 [ Mus musculus (house mouse) ]

    Gene ID: 237987, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Otop2provided by MGI
    Official Full Name
    otopetrin 2provided by MGI
    Primary source
    MGI:MGI:2388365
    See related
    Ensembl:ENSMUSG00000050201 AllianceGenome:MGI:2388365
    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
    4732464P15
    Summary
    Enables proton channel activity. Involved in proton transmembrane transport. Predicted to be located in plasma membrane. Predicted to be active in membrane. Orthologous to human OTOP2 (otopetrin 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in stomach adult (RPKM 10.3), testis adult (RPKM 5.0) and 2 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Otop2 in Genome Data Viewer
    Location:
    11 E2; 11 80.84 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (115197989..115223132)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (115307163..115332306)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E44 Neighboring gene ferredoxin reductase Neighboring gene fatty acid desaturase domain family, member 6 Neighboring gene STARR-seq mESC enhancer starr_31156 Neighboring gene USH1 protein network component sans Neighboring gene otopetrin 3 Neighboring gene HID1 domain containing

    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. Systemic Delivery of AAV-Fdxr Mitigates the Phenotypes of Mitochondrial Disorders in Fdxr Mutant Mice. Yang L, et al. Mol Ther Methods Clin Dev, 2020 Sep 11. PMID 32995353, Free PMC Article
    2. Integrated analysis of the molecular pathogenesis of FDXR-associated disease. Slone JD, et al. Cell Death Dis, 2020 Jun 4. PMID 32499495, Free PMC Article
    3. Biallelic mutations in FDXR cause neurodegeneration associated with inflammation. Slone J, et al. J Hum Genet, 2018 Dec. PMID 30250212, Free PMC Article
    4. Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy. Peng Y, et al. Hum Mol Genet, 2017 Dec 15. PMID 29040572, Free PMC Article
    5. Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice. Kikkawa Y, et al. Hum Mol Genet, 2003 Mar 1. PMID 12588793

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 
    • Spontaneous (1) 

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables proton channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables proton channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in proton transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proton transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    proton channel OTOP2

    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_001362400.1 → NP_001349329.1  proton channel OTOP2

      Status: VALIDATED

      Source sequence(s)
      AB087504, BY004328
      Consensus CDS
      CCDS25628.1
      UniProtKB/Swiss-Prot
      Q80SX5, Q8CE77
      Related
      ENSMUSP00000102154.2, ENSMUST00000106544.2
      Conserved Domains (1) summary
      pfam03189
      Location:103 → 549
      Otopetrin

    2. NM_172801.2 → NP_766389.2  proton channel OTOP2

      See identical proteins and their annotated locations for NP_766389.2

      Status: VALIDATED

      Source sequence(s)
      AB087504, AK028866
      Consensus CDS
      CCDS25628.1
      UniProtKB/Swiss-Prot
      Q80SX5, Q8CE77
      Related
      ENSMUSP00000062109.3, ENSMUST00000055490.9
      Conserved Domains (1) summary
      pfam03189
      Location:103 → 549
      Otopetrin

    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_000077.7 Reference GRCm39 C57BL/6J

      Range
      115197989..115223132
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030245978.2 → XP_030101838.1  proton channel OTOP2 isoform X1

      UniProtKB/Swiss-Prot
      Q80SX5, Q8CE77
      Conserved Domains (1) summary
      pfam03189
      Location:103 → 549
      Otopetrin

    2. XM_036156676.1 → XP_036012569.1  proton channel OTOP2 isoform X1

      UniProtKB/Swiss-Prot
      Q80SX5, Q8CE77
      Conserved Domains (1) summary
      pfam03189
      Location:103 → 549
      Otopetrin
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q80SX5.1 GenPept UniProtKB/Swiss-Prot:Q80SX5

    Gene LinkOut

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

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