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

Gene ID: 57156, updated on 2-Oct-2022

Summary

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
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Genomic context

See TMEM63C in Genome Data Viewer
Location:
14q24.3
Exon count:
24
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (77181798..77259495)
110 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 zinc finger DHHC-type palmitoyltransferase 22 Neighboring gene family with sequence similarity 204 member D, pseudogene Neighboring gene uncharacterized LOC124903351 Neighboring gene microRNA 1260a Neighboring gene neuroglobin

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Spastic paraplegia 87, autosomal recessive
MedGen: CN315824 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
enables calcium activated cation channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables osmolarity-sensing cation channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in cation transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in cation transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in glomerular filtration ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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_020431.4NP_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
    Q9P1W1, Q9P1W3
    UniProtKB/TrEMBL
    A0A024R6B3
    Related
    ENSP00000298351.4, ENST00000298351.5
    Conserved Domains (3) summary
    pfam02714
    Location:427680
    RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
    pfam13967
    Location:44203
    RSN1_TM; Late exocytosis, associated with Golgi transport
    pfam14703
    Location:220398
    PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)