1. Gene
  2. TMEM63C - transmembrane protein 63C Gene

TMEM63C - transmembrane protein 63C Gene

Homo sapiens

Also known as CSC1; SPG87; hsCSC1; C14orf171

Gene ID: 57156 | Gene type: protein coding

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

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)

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  • 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

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