2. Gene
  3. SLC6A12 - solute carrier family 6 member 12 Gene

SLC6A12 - solute carrier family 6 member 12 Gene

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

中文名称：溶质载体家族 6 成员 12

种属: Homo sapiens

同用名: BGT1; GAT2; BGT-1

基因 ID: 6539 | 基因类型: protein coding

关于 SLC6A12

Cytogenetic location: 12p13.33 Genomic coordinates (GRCh38): 12:183,848-214,157 (from NCBI)

This gene has 17 transcripts (splice variants), 198 orthologues and 19 paralogues. Biased expression in liver (RPKM 12.1), kidney (RPKM 10.0) and 5 other tissues.

功能概要

启用单羧酸跨膜转运蛋白活性。参与单羧酸运输。预测位于质膜中。预计是膜的组成部分。预计在神经元投射中活跃。预计是质膜的组成部分。 [由基因组资源联盟提供，2022 年 4 月]

Enables monocarboxylic acid transmembrane transporter activity. Involved in monocarboxylic acid transport. Predicted to be located in plasma membrane. Predicted to be integral component of membrane. Predicted to be active in neuron projection. Predicted to be integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

SLC6A12 基因产物(4)

mRNA Protein Name
NM_001122847.3 NP_001116319.1 sodium- and chloride-dependent betaine transporter
NM_001122848.3 NP_001116320.1 sodium- and chloride-dependent betaine transporter
NM_001206931.2 NP_001193860.1 sodium- and chloride-dependent betaine transporter
NM_003044.5 NP_003035.3 sodium- and chloride-dependent betaine transporter
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 gamma-aminobutyric acid:sodium:chloride symporter activity IDA
IDA: 通过直接分析推断
7589472 GOA
enables monocarboxylic acid transmembrane transporter activity IDA
IDA: 通过直接分析推断
29175673 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21525870 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in gamma-aminobutyric acid transport IDA
IDA: 通过直接分析推断
7589472 GOA
involved in monocarboxylic acid transport IDA
IDA: 通过直接分析推断
29175673 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

SLC6A12 蛋白结构

SNF

SNF: Sodium:neurotransmitter symporter family (36 - 560)

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

sodium- and chloride-dependent betaine transporter

Na(+)/Cl(-) betaine/GABA transporter

SLC6A12 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
SLC6A12 P48065 REL Homo sapiens Q04864
Validated Y2H
25416956
种属内
SLC6A12 P48065 REL Homo sapiens Q04864
Y2H Array
25416956
种属内
SLC6A12 P48065 REL Homo sapiens Q04864
Y2H Prey Pooling
25416956
种属内
SLC6A12 P48065 SCRIB Homo sapiens Q14160
Ub Reconstruction
21525870
种属内
SLC6A12 P48065 CD79A Homo sapiens P11912
Y2H Prey Pooling
32296183
种属内
SLC6A12 P48065 CD79A Homo sapiens P11912
Y2H Array
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Spinocerebellar Ataxia 11

Spinocerebellar Ataxia Type 11

SCA11

Spinocerebellar Ataxia-11

Ataxia, Spinocerebellar, Type 11
Syringomyelia

Hydromyelia
Hyperekplexia

Hereditary Hyperekplexia

Kok Disease

Congenital Stiff Man Syndrome

Familial Startle Disease

Sthe

Stiff-Baby Syndrome

Hereditary Hyperexplexia

Startle Disease

Exaggerated Startle Reaction

Hyperexplexia Hereditary

Startle Disease, Familial

Startle Reaction, Exaggerated

Stiff-Man Syndrome, Congenital

Stiff-Person Syndrome, Congenital

Congenital Stiff-Man Syndrome

Congenital Stiff-Person Syndrome

Familial Hyperekplexia

Startle Syndrome

Stiff Baby Syndrome

Hyperekplexia, Hereditary

Stiff-Person Syndrome
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-RS13298 SLC6A12 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris SLC6A12 VGNC VGNC:46455
Bos taurus SLC6A12 VGNC VGNC:34915
Mus musculus SLC6A12 MGD MGI:95628
Rattus norvegicus SLC6A12 RGD RGD:620255
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