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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

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