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

TMEM63C - transmembrane protein 63C Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：跨膜蛋白 63C

种属: Homo sapiens

同用名: CSC1; SPG87; hsCSC1; C14orf171

基因 ID: 57156 | 基因类型: protein coding

关于 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.

功能概要

启用钙激活阳离子通道活动。参与阳离子运输。预计是膜的组成部分。预计在质膜上有活性。局灶节段性肾小球硬化的生物标志物。 [由基因组资源联盟提供，2022 年 4 月]

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 基因产物(1)

mRNA Protein Name
NM_020431.4 NP_065164.2 calcium permeable stress-gated cation channel 1
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables calcium-activated cation channel activity IDA
IDA: 通过直接分析推断
24503647 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in monoatomic cation transport IDA
IDA: 通过直接分析推断
24503647 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

TMEM63C 蛋白结构

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.
蛋白主名 其他名称

calcium permeable stress-gated cation channel 1

calcium permeable stress-gated cation channel 1 homolog

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS14734 TMEM63C Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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
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