1. Gene
  2. SPNS2 - SPNS lysolipid transporter 2, sphingosine-1-phosphate Gene

SPNS2 - SPNS lysolipid transporter 2, sphingosine-1-phosphate Gene

中文名称:SPNS 溶血脂转运蛋白 2,1-磷酸鞘氨醇

种属: Homo sapiens

同用名: DFNB115; SLC62A2; SLC63A2

基因 ID: 124976 | 基因类型: protein coding

关于 SPNS2

Cytogenetic location: 17p13.2 Genomic coordinates (GRCh38): 17:4,498,881-4,539,035 (from NCBI)

This gene has 8 transcripts (splice variants), 190 orthologues, 2 paralogues and is associated with 1 phenotype. Ubiquitous expression in esophagus (RPKM 28.9), kidney (RPKM 26.3) and 23 other tissues.

功能概要

由该基因编码的蛋白质是鞘氨醇 1-磷酸的转运蛋白,鞘氨醇 1-磷酸是一种在心血管、免疫学和神经发育中很重要的分泌脂质。该基因的缺陷是早发性进行性听力损失的一个原因。[RefSeq 提供,2016 年 7 月]

The protein encoded by this gene is a transporter of sphingosine 1-phosphate, a secreted lipid that is important in cardiovascular, immunological, and neural development. Defects in this gene are a cause of early onset progressive hearing loss. [provided by RefSeq, Jul 2016]

SPNS2 基因产物(1)

mRNA Protein Name
NM_001124758.3 NP_001118230.1 sphingosine-1-phosphate transporter SPNS2
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 sphingolipid transporter activity IDA
IDA: 通过直接分析推断
21084291 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in lipid transport IDA
IDA: 通过直接分析推断
21084291 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

SPNS2 蛋白结构

MFS_1

MFS_1: Major Facilitator Superfamily (109 - 470)

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

sphingosine-1-phosphate transporter SPNS2

protein spinster homolog 2

SPNS sphingolipid transporter 2

关联疾病

疾病名称 别名
Deafness, Autosomal Recessive 115

DFNB115

Autosomal Recessive Nonsyndromic Deafness 115

Autosomal Recessive Deafness 115

Deafness, Autosomal Recessive, 115

Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

Ichthyosis

Ichthyoses

Non-Syndromic Ichthyosis

Congenital Ichthyosis

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
Macaca mulatta SPNS2 VGNC VGNC:78003
Felis catus SPNS2 VGNC VGNC:65642
Bos taurus SPNS2 VGNC VGNC:108134
Rattus norvegicus SPNS2 RGD RGD:2303312
Mus musculus SPNS2 MGD MGI:2384936