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    Tmem63c transmembrane protein 63c [ Mus musculus (house mouse) ]

    Gene ID: 217733, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Tmem63cprovided by MGI
    Official Full Name
    transmembrane protein 63cprovided by MGI
    Primary source
    MGI:MGI:2444386
    See related
    Ensembl:ENSMUSG00000034145 AllianceGenome:MGI:2444386
    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
    4932420N09; 9330187M14Rik
    Summary
    Enables osmolarity-sensing monoatomic cation channel activity. Predicted to be involved in glomerular filtration and monoatomic cation transport. Located in plasma membrane. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 87. Orthologous to human TMEM63C (transmembrane protein 63C). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in cerebellum adult (RPKM 10.3), testis adult (RPKM 6.2) and 5 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Tmem63c in Genome Data Viewer
    Location:
    12 D2; 12 41.21 cM
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (87068114..87138598)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (87021340..87091824)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E10769 Neighboring gene predicted gene, 32934 Neighboring gene CLOCK interacting protein, circadian Neighboring gene zinc finger, DHHC-type containing 22 Neighboring gene crumbs homolog 1 pseudogene Neighboring gene neuroglobin Neighboring gene protein-O-mannosyltransferase 2 Neighboring gene STARR-positive B cell enhancer ABC_E10770 Neighboring gene STARR-positive B cell enhancer ABC_E10771 Neighboring gene glutathione transferase zeta 1 (maleylacetoacetate isomerase)

    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. Cryo-EM structure of TMEM63C suggests it functions as a monomer. Qin Y, et al. Nat Commun, 2023 Nov 9. PMID 37945568, Free PMC Article
    2. Co-expression of mouse TMEM63A, TMEM63B and TMEM63C confers hyperosmolarity activated ion currents in HEK293 cells. Zhao X, et al. Cell Biochem Funct, 2016 Jun. PMID 27045885
    3. Genetic determinants of micronucleus formation in vivo. Adams DJ, et al. Nature, 2024 Mar. PMID 38355793, Free PMC Article
    4. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article
    5. Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Zambrowicz BP, et al. Proc Natl Acad Sci U S A, 2003 Nov 25. PMID 14610273, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cryo-EM structure of TMEM63C suggests it functions as a monomer.
      Title: Cryo-EM structure of TMEM63C suggests it functions as a monomer.
    2. 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 (2) 

    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables calcium-activated cation 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 glomerular filtration ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in glomerular filtration ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in monoatomic cation transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in monoatomic cation transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    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 

    General protein information

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    Preferred Names
    calcium permeable stress-gated cation channel 1

    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_001361704.1 → NP_001348633.1  calcium permeable stress-gated cation channel 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
      Source sequence(s)
      AC132609, AK034410, BY239104, CN459916
      Consensus CDS
      CCDS26069.1
      UniProtKB/Swiss-Prot
      Q8CBX0
      Related
      ENSMUSP00000119872.2, ENSMUST00000146292.8
      Conserved Domains (3) summary
      pfam02714
      Location:425 → 678
      RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
      pfam13967
      Location:38 → 196
      RSN1_TM; Late exocytosis, associated with Golgi transport
      pfam14703
      Location:218 → 396
      PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

    2. NM_001361705.1 → NP_001348634.1  calcium permeable stress-gated cation channel 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC132609, AC153147
      Conserved Domains (3) summary
      pfam02714
      Location:425 → 678
      RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
      pfam13967
      Location:38 → 196
      RSN1_TM; Late exocytosis, associated with Golgi transport
      pfam14703
      Location:218 → 396
      PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

    3. NM_172583.3 → NP_766171.1  calcium permeable stress-gated cation channel 1 isoform 1

      See identical proteins and their annotated locations for NP_766171.1

      Status: VALIDATED

      Source sequence(s)
      AC132609, BC057088, BY239104, CN459916
      Consensus CDS
      CCDS26069.1
      UniProtKB/Swiss-Prot
      Q8CBX0
      Related
      ENSMUSP00000105816.2, ENSMUST00000110187.8
      Conserved Domains (3) summary
      pfam02714
      Location:425 → 678
      RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
      pfam13967
      Location:38 → 196
      RSN1_TM; Late exocytosis, associated with Golgi transport
      pfam14703
      Location:218 → 396
      PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

    RNA

    1. NR_155207.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC132609, AK030062, AK034410, CN459916

    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_000078.7 Reference GRCm39 C57BL/6J

      Range
      87068114..87138598
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006515720.4 → XP_006515783.1  calcium permeable stress-gated cation channel 1 isoform X1

      See identical proteins and their annotated locations for XP_006515783.1

      UniProtKB/Swiss-Prot
      Q8CBX0
      Conserved Domains (3) summary
      pfam02714
      Location:425 → 678
      RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
      pfam13967
      Location:38 → 196
      RSN1_TM; Late exocytosis, associated with Golgi transport
      pfam14703
      Location:218 → 396
      PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

    2. XM_017315036.1 → XP_017170525.1  calcium permeable stress-gated cation channel 1 isoform X6

      Conserved Domains (2) summary
      pfam02714
      Location:284 → 555
      RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
      pfam14703
      Location:95 → 273
      PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

    3. XM_036157336.1 → XP_036013229.1  calcium permeable stress-gated cation channel 1 isoform X2

      Conserved Domains (3) summary
      pfam02714
      Location:425 → 678
      RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
      pfam13967
      Location:38 → 196
      RSN1_TM; Late exocytosis, associated with Golgi transport
      pfam14703
      Location:218 → 396
      PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

    4. XM_036157337.1 → XP_036013230.1  calcium permeable stress-gated cation channel 1 isoform X5

      Conserved Domains (2) summary
      pfam02714
      Location:302 → 555
      RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
      pfam14703
      Location:95 → 273
      PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

    5. XM_011244081.4 → XP_011242383.1  calcium permeable stress-gated cation channel 1 isoform X1

      See identical proteins and their annotated locations for XP_011242383.1

      UniProtKB/Swiss-Prot
      Q8CBX0
      Conserved Domains (3) summary
      pfam02714
      Location:425 → 678
      RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
      pfam13967
      Location:38 → 196
      RSN1_TM; Late exocytosis, associated with Golgi transport
      pfam14703
      Location:218 → 396
      PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

    6. XM_011244085.4 → XP_011242387.1  calcium permeable stress-gated cation channel 1 isoform X1

      See identical proteins and their annotated locations for XP_011242387.1

      UniProtKB/Swiss-Prot
      Q8CBX0
      Conserved Domains (3) summary
      pfam02714
      Location:425 → 678
      RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
      pfam13967
      Location:38 → 196
      RSN1_TM; Late exocytosis, associated with Golgi transport
      pfam14703
      Location:218 → 396
      PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

    7. XM_030246662.2 → XP_030102522.1  calcium permeable stress-gated cation channel 1 isoform X1

      UniProtKB/Swiss-Prot
      Q8CBX0
      Conserved Domains (3) summary
      pfam02714
      Location:425 → 678
      RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
      pfam13967
      Location:38 → 196
      RSN1_TM; Late exocytosis, associated with Golgi transport
      pfam14703
      Location:218 → 396
      PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

    8. XM_011244084.4 → XP_011242386.1  calcium permeable stress-gated cation channel 1 isoform X1

      See identical proteins and their annotated locations for XP_011242386.1

      UniProtKB/Swiss-Prot
      Q8CBX0
      Conserved Domains (3) summary
      pfam02714
      Location:425 → 678
      RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
      pfam13967
      Location:38 → 196
      RSN1_TM; Late exocytosis, associated with Golgi transport
      pfam14703
      Location:218 → 396
      PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

    9. XM_006515718.5 → XP_006515781.1  calcium permeable stress-gated cation channel 1 isoform X1

      See identical proteins and their annotated locations for XP_006515781.1

      UniProtKB/Swiss-Prot
      Q8CBX0
      Conserved Domains (3) summary
      pfam02714
      Location:425 → 678
      RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
      pfam13967
      Location:38 → 196
      RSN1_TM; Late exocytosis, associated with Golgi transport
      pfam14703
      Location:218 → 396
      PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

    10. XM_030246664.2 → XP_030102524.1  calcium permeable stress-gated cation channel 1 isoform X3

      Conserved Domains (3) summary
      pfam02714
      Location:407 → 678
      RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
      pfam13967
      Location:38 → 196
      RSN1_TM; Late exocytosis, associated with Golgi transport
      pfam14703
      Location:218 → 396
      PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

    11. XM_006515725.4 → XP_006515788.1  calcium permeable stress-gated cation channel 1 isoform X4

      See identical proteins and their annotated locations for XP_006515788.1

      Conserved Domains (2) summary
      pfam02714
      Location:302 → 555
      RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
      pfam14703
      Location:95 → 273
      PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

    12. XM_006515724.4 → XP_006515787.1  calcium permeable stress-gated cation channel 1 isoform X4

      See identical proteins and their annotated locations for XP_006515787.1

      Conserved Domains (2) summary
      pfam02714
      Location:302 → 555
      RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
      pfam14703
      Location:95 → 273
      PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

    13. XM_006515727.4 → XP_006515790.1  calcium permeable stress-gated cation channel 1 isoform X7

      Conserved Domains (2) summary
      pfam02714
      Location:105 → 376
      RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
      pfam14703
      Location:8 → 94
      PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

    14. XM_006515717.5 → XP_006515780.1  calcium permeable stress-gated cation channel 1 isoform X1

      See identical proteins and their annotated locations for XP_006515780.1

      UniProtKB/Swiss-Prot
      Q8CBX0
      Related
      ENSMUSP00000117023.2, ENSMUST00000131878.2
      Conserved Domains (3) summary
      pfam02714
      Location:425 → 678
      RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
      pfam13967
      Location:38 → 196
      RSN1_TM; Late exocytosis, associated with Golgi transport
      pfam14703
      Location:218 → 396
      PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

    RNA

    1. XR_003950037.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8CBX0.1 GenPept UniProtKB/Swiss-Prot:Q8CBX0

    Gene LinkOut

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