2. Gene
  3. SLC6A13 - solute carrier family 6 member 13 Gene

SLC6A13 - solute carrier family 6 member 13 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 13

种属: Homo sapiens

同用名: GAT2; GAT3; GAT-2

基因 ID: 6540 | 基因类型: protein coding

关于 SLC6A13

Cytogenetic location: 12p13.33 Genomic coordinates (GRCh38): 12:220,622-262,836 (from NCBI)

This gene has 12 transcripts (splice variants), 251 orthologues and 19 paralogues. Biased expression in kidney (RPKM 28.5) and liver (RPKM 1.5).

功能概要

启用氨基酸跨膜转运蛋白活性和单羧酸跨膜转运蛋白活性。参与氨基酸跨质膜输入和单羧酸转运。位于细胞外外泌体。 [由基因组资源联盟提供，2022 年 4 月]

Enables amino acid transmembrane transporter activity and monocarboxylic acid transmembrane transporter activity. Involved in amino acid import across plasma membrane and monocarboxylic acid transport. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]

SLC6A13 基因产物(3)

mRNA Protein Name
NM_001190997.3 NP_001177926.1 sodium- and chloride-dependent GABA transporter 2 isoform 2
NM_001243392.2 NP_001230321.1 sodium- and chloride-dependent GABA transporter 2 isoform 3
NM_016615.5 NP_057699.2 sodium- and chloride-dependent GABA transporter 2 isoform 1
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 amino acid transmembrane transporter activity IDA
IDA: 通过直接分析推断
24842606 GOA
enables amino acid:sodium symporter activity IDA
IDA: 通过直接分析推断
17502375 GOA
enables gamma-aminobutyric acid:sodium:chloride symporter activity IDA
IDA: 通过直接分析推断
17502375 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
32814053 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in amino acid import across plasma membrane IDA
IDA: 通过直接分析推断
24842606 GOA
involved in monocarboxylic acid transport IDA
IDA: 通过直接分析推断
29175673 GOA
acts upstream of nitrogen compound transport IDA
IDA: 通过直接分析推断
24842606 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
22932902 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

SLC6A13 蛋白结构

SNF

SNF: Sodium:neurotransmitter symporter family (32 - 553)

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

sodium- and chloride-dependent GABA transporter 2

GABA transport protein

关联疾病

疾病名称 别名
Giant Axonal Neuropathy 1, Autosomal Recessive

Giant Axonal Neuropathy

Giant Axonal Neuropathy 1

Gan

GAN1

Giant Axonal Neuropathy-1

Neuropathy, Giant Axonal

Giant Axonal Disease

Neuropathy, Axonal, Giant, Type 1
Iminoglycinuria

Iminoglycinuria, Digenic

IG
Childhood Absence Epilepsy

Pyknolepsy

Petit Mal Epilepsy

Absence Seizures

Absence Seizure

Petit Mal Seizure

Absence Epilepsy, Childhood

Pykno-Epilepsy

Epilepsy, Absence

Absence Epilepsy

Pycnolepsy
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-RS13299 SLC6A13 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus SLC6A13 VGNC VGNC:34916
Felis catus SLC6A13 VGNC VGNC:65410
Canis familiaris SLC6A13 VGNC VGNC:46456
Rattus norvegicus SLC6A13 RGD RGD:620788
Mus musculus SLC6A13 MGD MGI:95629
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