2. Gene
  3. SLC6A18 - solute carrier family 6 member 18 Gene

SLC6A18 - solute carrier family 6 member 18 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 18

种属: Homo sapiens

同用名: Xtrp2

基因 ID: 348932 | 基因类型: protein coding

关于 SLC6A18

Cytogenetic location: 5p15.33 Genomic coordinates (GRCh38): 5:1,225,381-1,246,189 (from NCBI)

This gene has 2 transcripts (splice variants), 232 orthologues, 19 paralogues and is associated with 1 phenotype. Restricted expression toward kidney (RPKM 7.1).

功能概要

SLC6 蛋白家族 (包括 SLC6A18) 充当神经递质、氨基酸和甜菜碱、牛磺酸和肌酸等渗透质的特异性转运体。 SLC6 蛋白是钠协同转运蛋白，它从钠离子的电化学梯度中获取溶质转运的能量 (Hoglund 等人，2005 [PubMed 16125675]) 。[OMIM 提供，2010 年 4 月]

The SLC6 family of proteins, which includes SLC6A18, act as specific transporters for neurotransmitters, Amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions (Hoglund et al., 2005 [PubMed 16125675]).[supplied by OMIM, Apr 2010]

SLC6A18 基因产物(1)

mRNA Protein Name
NM_182632.3 NP_872438.2 inactive sodium-dependent neutral amino acid transporter B(0)AT3
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
NOT contributes to amino acid transmembrane transporter activity IDA
IDA: 通过直接分析推断
26240152 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
NOT involved in amino acid transport IMP
IMP: 通过突变表型推断
26240152 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

SLC6A18 蛋白结构

SNF

SNF: Sodium:neurotransmitter symporter family (18 - 591)

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

inactive sodium-dependent neutral amino acid transporter B(0)AT3

sodium channel-like protein

关联疾病

疾病名称 别名
Iminoglycinuria

Iminoglycinuria, Digenic

IG
Hyperglycinuria

Glycinuria With Or Without Oxalate Urolithiasis

Glycinuria With Or Without Oxalate Nephrolithiasis

Iminoglycinuria Type Ii

HG
Fanconi-Like Syndrome

Fanconi Like Syndrome
Hartnup Disorder

Hartnup Disease

HND

Neutral 1 Amino Acid Transport Defect

Neutral Amino Acid Transport Defect

Deficiency Of Tryptophan Oxygenase

Hartnup'S Disease

Aminoaciduria, Hartnup Type

Disorder Of Neutral Amino Acid Transport
Developmental And Epileptic Encephalopathy 3

Epileptic Encephalopathy, Early Infantile, 3

DEE3

Eiee3

Early Myoclonic Encephalopathy

Developmental And Epileptic Encephalopathy, 3

Early Infantile Epileptic Encephalopathy 3

Eme

Neonatal Epilepsy With Suppression-Burst Pattern

Encephalopathy, Epileptic, Early Infantile, Type 3
Retinitis Pigmentosa 68

RP68

Retinitis Pigmentosa, Type 68
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-RS13304 SLC6A18 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus SLC6A18 MGD MGI:1336892
Canis familiaris SLC6A18 VGNC VGNC:46460
Macaca mulatta SLC6A18 VGNC VGNC:77779
Rattus norvegicus SLC6A18 RGD RGD:69352
Felis catus SLC6A18 VGNC VGNC:102323
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