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

Gene ID: 57156, updated on 27-Aug-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 cation transport. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. Biomarker of focal segmental glomerulosclerosis. [provided by Alliance of Genome Resources, Apr 2022]
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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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)
105.20220307 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 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
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

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