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Otop2 otopetrin 2 [ Mus musculus (house mouse) ]

Gene ID: 237987, updated on 2-Nov-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, Nov 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 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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