1. Gene
  2. SLC24A3 - solute carrier family 24 member 3 Gene

SLC24A3 - solute carrier family 24 member 3 Gene

中文名称:溶质载体家族 24 成员 3

种属: Homo sapiens

同用名: NCKX3

基因 ID: 57419 | 基因类型: protein coding

关于 SLC24A3

Cytogenetic location: 20p11.23 Genomic coordinates (GRCh38): 20:19,212,642-19,722,926 (from NCBI)

This gene has 1 transcript (splice variant), 258 orthologues and 4 paralogues. Broad expression in endometrium (RPKM 17.0), esophagus (RPKM 12.0) and 19 other tissues.

功能概要

质膜钠/钙交换器是细胞内钙稳态和电传导的重要组成部分。钾依赖性钠/钙交换剂如 SLC24A3 被认为可以运输 1 个细胞内钙离子和 1 个钾离子以交换 4 个细胞外钠离子 (Kraev 等人,2001 [PubMed 11294880]) 。[OMIM 提供,2008 年 3 月]

Plasma membrane sodium/calcium exchangers are an important component of intracellular calcium homeostasis and electrical conduction. Potassium-dependent sodium/calcium exchangers such as SLC24A3 are believed to transport 1 intracellular calcium and 1 potassium ion in exchange for 4 extracellular sodium ions (Kraev et al., 2001 [PubMed 11294880]).[supplied by OMIM, Mar 2008]

SLC24A3 基因产物(1)

mRNA Protein Name
NM_020689.4 NP_065740.2 sodium/potassium/calcium exchanger 3 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables calcium, potassium:sodium antiporter activity IDA
IDA: 通过直接分析推断
26631410 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in calcium ion transmembrane transport IDA
IDA: 通过直接分析推断
26631410 GOA
acts upstream of or within intracellular calcium ion homeostasis IDA
IDA: 通过直接分析推断
26631410 GOA
involved in potassium ion transmembrane transport IDA
IDA: 通过直接分析推断
26631410 GOA
involved in sodium ion transmembrane transport IDA
IDA: 通过直接分析推断
26631410 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell periphery IDA
IDA: 通过直接分析推断
21321244 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
26631410 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

SLC24A3 蛋白结构

Na_Ca_ex

Na_Ca_ex: Sodium/calcium exchanger protein (124 - 254)

Na_Ca_ex

Na_Ca_ex: Sodium/calcium exchanger protein (485 - 624)

  • 0
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  • 200
  • 300
  • 400
  • 500
  • 600
  • 644 a.a.
蛋白主名 其他名称

sodium/potassium/calcium exchanger 3

Na(+)/K(+)/Ca(2+)-exchange protein 3

关联疾病

疾病名称 别名
Corneal Dystrophy, Posterior Polymorphous, 1

Posterior Polymorphous Corneal Dystrophy

Ppcd

Maumenee Corneal Dystrophy

Posterior Polymorphous Corneal Dystrophy 1

PPCD1

Corneal Dystrophy, Hereditary Polymorphous Posterior

Corneal Endothelial Dystrophy 1, Autosomal Dominant

Schlichting Dystrophy

Ched1

Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly

Ched1, Formerly

Hereditary Polymorphus Posterior Corneal Dystrophy

Posterior Polymorphous Dystrophy

Hereditary Polymorphous Posterior Corneal Dystrophy

Dystrophy, Corneal, Posterior Polymorphous

Dystrophy, Corneal, Posterior Polymorphous, Type 1

Polymorphous Corneal Dystrophy

Corneal Endothelial Dystrophy 2

Corneal Endothelial Dystrophy

Congenital Hereditary Endothelial Dystrophy Of Cornea

Chandler Syndrome

CHED

Chandler'S Syndrome

Endothelial Corneal Dystrophy

Ched2

Maumenee Corneal Dystrophy

Corneal Dystrophy, Congenital Hereditary Endothelial

Dystrophy Of Corneal Endothelium

Corneal Endothelial Dystrophy 2

Corneal Endothelial Dystrophy 2, Autosomal Recessive, Formerly

Ched2, Formerly

Corneal Endothelial Dystrophy, Autosomal Recessive

Endothelial Dystrophy

Posterior Membrane Corneal Dystrophy

Corneal Endothelial Dystrophy Type 2

Congenital Hereditary Endothelial Dystrophy Of The Cornea

Congenital Hereditary Endothelial Dystrophy Type Ii

Autosomal Recessive Ched

Autosomal Recessive Congenital Hereditary Endothelial Dystrophy

Chedii

Congenital Hereditary Endothelial Dystrophy Type 2

Infantile Hereditary Endothelial Dystrophy

Congenital Hereditary Endothelial Corneal Dystrophy

Corneal Endothelial Dystrophy 2, Autosomal Recessive

Iridocorneal Endothelial Syndrome

Dystrophy, Corneal, Endothelial

Corneal Endothelial Dystrophy 1, Autosomal Dominant

Migraine With Or Without Aura 1

Migraine

Migraine With Or Without Aura, Susceptibility To, 1

Migraine Disorder

Migraine Variant

Migraines

Migraine Disorders

Mgr1

Mgau

Ma

Migraine With Or Without Aura

Classic Migraine

Common Migraine

Disorder, Migraine

Headache Migraine

Headache Migrainous

Migraine Headache

Migraine Syndrome

Headache Including Migraine

Migraine, Susceptibility To

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

直系同源

种属 基因名 来源 基因 ID
Canis familiaris SLC24A3 VGNC VGNC:46287
Mus musculus SLC24A3 MGD MGI:2137513
Macaca mulatta SLC24A3 VGNC VGNC:77426
Bos taurus SLC24A3 VGNC VGNC:34738
Rattus norvegicus SLC24A3 RGD RGD:69256
Felis catus SLC24A3 VGNC VGNC:65250