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    TMEM63C transmembrane protein 63C [ Homo sapiens (human) ]

    Gene ID: 57156, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMEM63Cprovided by HGNC
    Official Full Name
    transmembrane protein 63Cprovided by HGNC
    Primary source
    HGNC:HGNC:23787
    See related
    Ensembl:ENSG00000165548 MIM:619953; AllianceGenome:HGNC:23787
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CSC1; SPG87; hsCSC1; C14orf171
    Summary
    Enables calcium-activated cation channel activity. Involved in monoatomic cation transport. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in plasma membrane. Implicated in hereditary spastic paraplegia 87. Biomarker of focal segmental glomerulosclerosis. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in brain (RPKM 4.3), testis (RPKM 3.7) and 13 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM63C in Genome Data Viewer
    Location:
    14q24.3
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (77181798..77259495)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (71391595..71468802)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (77648141..77725838)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:77600131-77600630 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:77605838-77606387 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:77606525-77607088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:77607089-77607652 Neighboring gene zinc finger DHHC-type palmitoyltransferase 22 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:77607747-77608248 Neighboring gene Sharpr-MPRA regulatory region 385 Neighboring gene family with sequence similarity 204 member D, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8796 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:77666368-77666882 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8797 Neighboring gene uncharacterized LOC124903351 Neighboring gene microRNA 1260a Neighboring gene neuroglobin

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia. Tábara LC, et al. Brain, 2022 Sep 14. PMID 35718349, Free PMC Article
    2. Tmem63c is a potential pro-survival factor in angiotensin II-treated human podocytes. Eisenreich A, et al. Life Sci, 2020 Oct 1. PMID 32750436
    3. TMEM63C, a Potential Novel Target for Albuminuria Development, Is Regulated by MicroRNA-564 and Transforming Growth Factor beta in Human Renal Cells. Orphal M, et al. Kidney Blood Press Res, 2020. PMID 33080601
    4. DUF221 proteins are a family of osmosensitive calcium-permeable cation channels conserved across eukaryotes. Hou C, et al. Cell Res, 2014 May. PMID 24503647, Free PMC Article
    5. 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

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.
      Title: TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.
    2. TMEM63C, a Potential Novel Target for Albuminuria Development, Is Regulated by MicroRNA-564 and Transforming Growth Factor beta in Human Renal Cells.
      Title: TMEM63C, a Potential Novel Target for Albuminuria Development, Is Regulated by MicroRNA-564 and Transforming Growth Factor beta in Human Renal Cells.
    3. Tmem63c is a potential pro-survival factor in angiotensin II-treated human podocytes.
      Title: Tmem63c is a potential pro-survival factor in angiotensin II-treated human podocytes.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Spastic paraplegia 87, autosomal recessive
    MedGen: C5774182 OMIM: 619966 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: CIPC

    Homology

    Gene Ontology Provided by GOA

    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 osmolarity-sensing monoatomic cation channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    calcium permeable stress-gated cation channel 1
    Names
    calcium permeable stress-gated cation channel 1 homolog

    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_020431.4 → NP_065164.2  calcium permeable stress-gated cation channel 1

      See identical proteins and their annotated locations for NP_065164.2

      Status: VALIDATED

      Source sequence(s)
      AC007375, AK125159, AL137278, AL537279, BC136613, BX248759, KF455952
      Consensus CDS
      CCDS45141.1
      UniProtKB/Swiss-Prot
      B2RN22, B3KWJ5, Q86TS3, Q86TS4, Q9NSQ4, Q9P1W1, Q9P1W3
      Related
      ENSP00000298351.4, ENST00000298351.5
      Conserved Domains (3) summary
      pfam02714
      Location:427 → 680
      RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
      pfam13967
      Location:44 → 203
      RSN1_TM; Late exocytosis, associated with Golgi transport
      pfam14703
      Location:220 → 398
      PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      77181798..77259495
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      71391595..71468802
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P1W3.1 GenPept UniProtKB/Swiss-Prot:Q9P1W3

    Gene LinkOut

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

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