TMEM63C - transmembrane protein 63C Gene

Also Known as CSC1; SPG87; hsCSC1; C14orf171

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57156

About TMEM63C

Cytogenetic location: 14q24.3 Genomic coordinates (GRCh38): 14:77,181,798-77,259,495 (from NCBI)

This gene has 8 transcripts (splice variants), 201 orthologues and 2 paralogues. Biased expression in brain (RPKM 4.3), testis (RPKM 3.7) and 13 other tissues.

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]

TMEM63C Products (1)

mRNA Protein Name
NM_020431.4 NP_065164.2 calcium permeable stress-gated cation channel 1

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables calcium-activated cation channel activity IDA
IDA: Inferred from direct assay
24503647 GOA
Biological Process GO Annotation Evidence References Source
involved in monoatomic cation transport IDA
IDA: Inferred from direct assay
24503647 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TMEM63C Protein Structure

RSN1_TM

RSN1_TM: Late exocytosis, associated with Golgi transport (41 - 204)

PHM7_cyt

PHM7_cyt: Cytosolic domain of 10TM putative phosphate transporter (255 - 324)

RSN1_7TM

RSN1_7TM: Calcium-dependent channel, 7TM region, putative phosphate (343 - 680)

  • 0
  • 200
  • 400
  • 600
  • 806 a.a.
Protein Preferred Names Protein Names

calcium permeable stress-gated cation channel 1

  • calcium permeable stress-gated cation channel 1 homolog

Related Diseases

Diseases Alias
Spastic Paraplegia 87, Autosomal Recessive

  • SPG87
Focal Segmental Glomerulosclerosis

  • Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

  • Focal Glomerulosclerosis

  • Fsgs

  • Segmental Glomerulosclerosis

  • Glomerulosclerosis, Focal Segmental

  • Fgs

  • Focal Glomerular Sclerosis

  • Familial Idiopathic Nephrotic Syndrome

  • Focal Sclerosis With Hyalinosis

  • Glomerulosclerosis, Focal

  • Glomerulosclerosis Focal

  • Glomerulosclerosis, Segmental, Focal

  • Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Coffin-Siris Syndrome 3

  • CSS3

  • Mrd15

  • Mental Retardation, Autosomal Dominant 15

  • Autosomal Dominant Mental Retardation 15

  • Coffin-Siris Syndrome, Type 3
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS14734 TMEM63C Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus TMEM63C VGNC VGNC:66357
Rattus norvegicus TMEM63C RGD RGD:1310207
Canis familiaris TMEM63C VGNC VGNC:47597
Mus musculus TMEM63C MGD MGI:2444386
Bos taurus TMEM63C VGNC VGNC:36105
Macaca mulatta TMEM63C VGNC VGNC:79411
Others TMEM63C NCBI