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    Tmem63b transmembrane protein 63b [ Mus musculus (house mouse) ]

    Gene ID: 224807, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Tmem63bprovided by MGI
    Official Full Name
    transmembrane protein 63bprovided by MGI
    Primary source
    MGI:MGI:2387609
    See related
    Ensembl:ENSMUSG00000036026 AllianceGenome:MGI:2387609
    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
    Summary
    Enables calcium-activated cation channel activity; mechanosensitive monoatomic ion channel activity; and osmolarity-sensing monoatomic cation channel activity. Involved in sensory perception of sound and surfactant secretion. Located in plasma membrane. Is expressed in jaw bone; nervous system; and sensory organ. Orthologous to human TMEM63B (transmembrane protein 63B). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in lung adult (RPKM 53.9), whole brain E14.5 (RPKM 46.4) and 27 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Tmem63b in Genome Data Viewer
    Location:
    17 C; 17 22.59 cM
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (45971102..45997212, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (45660172..45686343, complement)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 52283 Neighboring gene STARR-positive B cell enhancer ABC_E9955 Neighboring gene predicted gene, 25008 Neighboring gene STARR-positive B cell enhancer ABC_E10956 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:45775877-45776144 Neighboring gene calpain 11 Neighboring gene STARR-positive B cell enhancer ABC_E7534 Neighboring gene mitochondrial ribosomal protein L14 Neighboring gene predicted gene, 35456 Neighboring gene RIKEN cDNA 1600014C23 gene Neighboring gene cDNA sequence BE949265

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Expression and localization of the mechanosensitive/osmosensitive ion channel TMEM63B in the mouse urinary tract. Dalghi MG, et al. Physiol Rep, 2024 May. PMID 38724885, Free PMC Article
    2. The Cation Channel TMEM63B Is an Osmosensor Required for Hearing. Du H, et al. Cell Rep, 2020 May 5. PMID 32375046
    3. Overexpression of Osmosensitive Ca(2+)-Permeable Channel TMEM63B Promotes Migration in HEK293T Cells. Marques MC, et al. Biochemistry, 2019 Jul 2. PMID 31243992
    4. Mechanosensitive channels TMEM63A and TMEM63B mediate lung inflation-induced surfactant secretion. Chen GL, et al. J Clin Invest, 2024 Dec 21. PMID 38127458, Free PMC Article
    5. TMEM63 proteins function as monomeric high-threshold mechanosensitive ion channels. Zheng W, et al. Neuron, 2023 Oct 18. PMID 37543036, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Expression and localization of the mechanosensitive/osmosensitive ion channel TMEM63B in the mouse urinary tract.
      Title: Expression and localization of the mechanosensitive/osmosensitive ion channel TMEM63B in the mouse urinary tract.
    2. Mechanosensitive channels TMEM63A and TMEM63B mediate lung inflation-induced surfactant secretion.
      Title: Mechanosensitive channels TMEM63A and TMEM63B mediate lung inflation-induced surfactant secretion.
    3. TMEM63 proteins may serve as an osmolarity sensitive ion channel for the osmoreception.
      Title: Co-expression of mouse TMEM63A, TMEM63B and TMEM63C confers hyperosmolarity activated ion currents in HEK293 cells.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4)  1 citation
    • Targeted (2) 

    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 calcium-activated cation channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium-activated cation channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables mechanosensitive monoatomic cation channel activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables mechanosensitive monoatomic cation channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables mechanosensitive monoatomic ion channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables mechanosensitive monoatomic ion channel activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables osmolarity-sensing monoatomic cation channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in exocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in monoatomic cation transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in surfactant secretion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in actin cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in actin cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in alveolar lamellar body membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in alveolar lamellar body membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in early endosome membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in early endosome membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    CSC1-like protein 2

    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_001413622.1 → NP_001400551.1  CSC1-like protein 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC165259
      UniProtKB/Swiss-Prot
      Q3TWI9, Q6PCL2, Q6PGA4, Q8C1V5, Q8R0W7

    2. NM_001413623.1 → NP_001400552.1  CSC1-like protein 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC165259
      UniProtKB/Swiss-Prot
      Q3TWI9, Q6PCL2, Q6PGA4, Q8C1V5, Q8R0W7

    3. NM_001413624.1 → NP_001400553.1  CSC1-like protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC165259

    4. NM_001413625.1 → NP_001400554.1  CSC1-like protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC165259

    5. NM_001413626.1 → NP_001400555.1  CSC1-like protein 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC165259

    6. NM_198167.4 → NP_937810.2  CSC1-like protein 2 isoform 1

      See identical proteins and their annotated locations for NP_937810.2

      Status: VALIDATED

      Source sequence(s)
      AC165259
      Consensus CDS
      CCDS28814.1
      UniProtKB/Swiss-Prot
      Q3TWI9, Q6PCL2, Q6PGA4, Q8C1V5, Q8R0W7
      Related
      ENSMUSP00000109151.3, ENSMUST00000113523.9
      Conserved Domains (3) summary
      pfam02714
      Location:433 → 704
      RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
      pfam13967
      Location:52 → 221
      RSN1_TM; Late exocytosis, associated with Golgi transport
      pfam14703
      Location:240 → 422
      PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

    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_000083.7 Reference GRCm39 C57BL/6J

      Range
      45971102..45997212 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030249734.2 → XP_030105594.1  CSC1-like protein 2 isoform X2

      Conserved Domains (3) summary
      pfam02714
      Location:420 → 691
      RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
      pfam13967
      Location:52 → 208
      RSN1_TM; Late exocytosis, associated with Golgi transport
      pfam14703
      Location:227 → 409
      PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

    RNA

    1. XR_001782067.3 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3TWI9.1 GenPept UniProtKB/Swiss-Prot:Q3TWI9

    Gene LinkOut

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

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