1. Gene
  2. SLC24A4 - solute carrier family 24 member 4 Gene

SLC24A4 - solute carrier family 24 member 4 Gene

中文名称:溶质载体家族 24 成员 4

种属: Homo sapiens

同用名: AI2A5; NCKX4; SHEP6; SLC24A2

基因 ID: 123041 | 基因类型: protein coding

关于 SLC24A4

Cytogenetic location: 14q32.12 Genomic coordinates (GRCh38): 14:92,322,581-92,501,481 (from NCBI)

This gene has 9 transcripts (splice variants), 228 orthologues, 4 paralogues and is associated with 5 phenotypes. Low expression observed in reference dataset.

功能概要

该基因编码钾依赖性钠/钙交换蛋白家族的成员。可变剪接导致多个转录变体。[RefSeq 提供,2010 年 7 月]

This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]

SLC24A4 基因产物(4)

mRNA Protein Name
NM_001378620.1 NP_001365549.1 sodium/potassium/calcium exchanger 4 isoform 1 precursor
NM_153646.4 NP_705932.2 sodium/potassium/calcium exchanger 4 isoform 1 precursor
NM_153647.4 NP_705933.2 sodium/potassium/calcium exchanger 4 isoform 2
NM_153648.4 NP_705934.1 sodium/potassium/calcium exchanger 4 isoform 3
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 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

SLC24A4 蛋白结构

Na_Ca_ex

Na_Ca_ex: Sodium/calcium exchanger protein (114 - 244)

Na_Ca_ex

Na_Ca_ex: Sodium/calcium exchanger protein (462 - 601)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 622 a.a.
蛋白主名 其他名称

sodium/potassium/calcium exchanger 4

Na(+)/K(+)/Ca(2+)-exchange protein 4

关联疾病

疾病名称 别名
Amelogenesis Imperfecta, Hypomaturation Type, Iia5

Amelogenesis Imperfecta Hypomaturation Type 2a5

AI2A5

Amelogenesis Imperfecta, Type Iia5

Amelogenesis Imperfecta Hypomaturation Type Iia5

Amelogenesis Imperfecta Type Iia5

Amelogenesis Imperfecta, Hypomaturation Type, 2a5

Skin/Hair/Eye Pigmentation, Variation In, 6

Skin/Hair/Eye Pigmentation 6, Blond/Brown Hair

SHEP6

Pigmentation, Skin/Hair/Eye, Variation In, Type 6

Amelogenesis Imperfecta

Ai

Congenital Enamel Hypoplasia

Al - [Amelogenesis Imperfecta]

Amelogenesis Imperfecta, Type Iiia

Ai3

Adhcai

Amelogenesis Imperfecta Type 3

AI3A

Amelogenesis Imperfecta, Type Iii

Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Dominant

Amelogenesis Imperfecta Type 3a

Amelogenesis Imperfecta Hypomineralization Type

Amelogenesis Imperfecta Type Iii

Hypocalcified Amelogenesis Imperfecta

Amelogenesis Imperfecta, Type 3

Amelogenesis Imperfecta, Hypomineralization Type

Autosomal Dominant Amelogenesis Imperfecta Hypocalcification Type

Amelogenesis Imperfecta 3a

Amelogenesis Imperfecta Hypocalcification Type Autosomal Dominant

Amelogenesis Imperfecta Hypomaturation Type

Aih

Hypomaturation Amelogenesis Imperfecta

Amelogenesis Imperfecta Type 2

Oculocutaneous Albinism

Albinism, Oculocutaneous

Oca

Albinism Oculocutaneous

Oca - [Oculocutaneous Albinism]

Albinism, Oculocutaneous, Type Ii

OCA2

Oculocutaneous Albinism Type 2

Oculocutaneous Albinism Type Ii

Albinoidism

Tyrosinase-Positive Oculocutaneous Albinism

Brown Oculocutaneous Albinism

Oculocutaneous Albinism, Tyrosinase-Positive

Albinism Ii

Albinism, Brown Oculocutaneous

Oculocutaneous Albinism, Type Ii, Modifier Of

Oculocutaneous Albinism, Type Ii

Albinism, Oculocutaneous, Type Ii, Modifier Of

Albinism 2

Albinism, Oculocutaneous, Type 2

Oculocutaneous Albinism Tyrosinase Positive

Oculocutaneous Albinism, Tyrosinase Positive

Albinism, Oculocutaneous, 2

Boca

Oca-2

Oculocutaneous Albinism Tyrosinase-Positive

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
Rattus norvegicus SLC24A4 RGD RGD:1305926
Felis catus SLC24A4 VGNC VGNC:65251
Macaca mulatta SLC24A4 VGNC VGNC:77427
Mus musculus SLC24A4 MGD MGI:2447362
Bos taurus SLC24A4 VGNC VGNC:34739
Canis familiaris SLC24A4 VGNC VGNC:46288