1. Gene
  2. KLC2 - kinesin light chain 2 Gene

KLC2 - kinesin light chain 2 Gene

中文名称:驱动蛋白轻链 2

种属: Homo sapiens

基因 ID: 64837 | 基因类型: protein coding

关于 KLC2

Cytogenetic location: 11q13.2 Genomic coordinates (GRCh38): 11:66,243,938-66,267,860 (from NCBI)

This gene has 14 transcripts (splice variants), 183 orthologues, 5 paralogues and is associated with 2 phenotypes. Broad expression in brain (RPKM 19.0), testis (RPKM 14.0) and 23 other tissues.

功能概要

由该基因编码的蛋白质是驱动蛋白的轻链,驱动蛋白是一种分子马达,负责沿微管移动囊泡和细胞器。该基因的缺陷是痉挛性截瘫、视神经萎缩和神经病 (SPOAN) 综合征的原因。[RefSeq 提供,2016 年 3 月]

The protein encoded by this gene is a light chain of Kinesin, a molecular motor responsible for moving vesicles and organelles along microtubules. Defects in this gene are a cause of spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome. [provided by RefSeq, Mar 2016]

KLC2 基因产物(5)

mRNA Protein Name
NM_001134774.2 NP_001128246.1 kinesin light chain 2 isoform 2
NM_001134775.2 NP_001128247.1 kinesin light chain 2 isoform 1
NM_001134776.2 NP_001128248.1 kinesin light chain 2 isoform 1
NM_001318734.2 NP_001305663.1 kinesin light chain 2 isoform 1
NM_022822.3 NP_073733.1 kinesin light chain 2 isoform 1
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 protein binding IPI
IPI: 通过物理相互作用推断
14985359 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in lysosome localization IMP
IMP: 通过突变表型推断
22172677 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

KLC2 蛋白结构

Rab5-bind

Rab5-bind: Rabaptin-like protein (69 - 239)

TPR_2

TPR_2: Tetratricopeptide repeat (243 - 270)

TPR_12

TPR_12: Tetratricopeptide repeat (278 - 354)

TPR_10

TPR_10: Tetratricopeptide repeat (365 - 395)

TPR_10

TPR_10: Tetratricopeptide repeat (450 - 475)

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

kinesin light chain 2

KLC 2

KLC2 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
KLC2 Q9H0B6 YWHAZ Homo sapiens P63104 15324660
种属内
KLC2 Q9H0B6 YWHAZ Homo sapiens P63104 15161933
种属内
KLC2 Q9H0B6 YWHAE Homo sapiens P62258 36931259
种属内
KLC2 Q9H0B6 SFN Homo sapiens P31947
TAP
15778465
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 KLC2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76469 KLC2 Protein, Human (sf9, His-GST) Q9H0B6-1 (M1-G622) ≥95%

关联疾病

疾病名称 别名
Spastic Paraplegia, Optic Atrophy, And Neuropathy

Spoan Syndrome

SPOAN

Spastic Paraplegia, Optic Atropy, And Neuropathy

Spastic Paraplegia, Optic Atropy, And Neuropathy Syndrome

Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome

Childhood Absence Epilepsy

Pyknolepsy

Petit Mal Epilepsy

Absence Seizures

Absence Seizure

Petit Mal Seizure

Absence Epilepsy, Childhood

Pykno-Epilepsy

Epilepsy, Absence

Absence Epilepsy

Pycnolepsy

Specific Learning Disability

Specific Learning Difficulty

Specific Learning Disorder

Aceruloplasminemia

Cerebellar Ataxia

Hypoceruloplasminemia

Hemosiderosis, Systemic, Due To Aceruloplasminemia

Familial Apoceruloplasmin Deficiency

Hereditary Ceruloplasmin Deficiency

Deficiency Of Ferroxidase

Hypoceruloplasminemia, Hereditary

Ceruloplasmin Deficiency

Systemic Hemosiderosis Due To Aceruloplasminemia

ACERULOP

Paraplegia

Paraplegia, Lower

Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

DSMA4

Autosomal Recessive Lower Motor Neuron Disease With Childhood Onset

Distal Spinal Muscular Atrophy Type 4

Autosomal Recessive Distal Spinal Muscular Atrophy Type 4

Distal Spinal Muscular Atrophy, Autosomal Recessive, 4

Atrophy, Muscular, Spinal, Distal, Autosomal Recessive, Type 4

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia

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
Canis familiaris KLC2 VGNC VGNC:42427
Bos taurus KLC2 VGNC VGNC:30623
Mus musculus KLC2 MGD MGI:107953
Macaca mulatta KLC2 VGNC VGNC:73869
Felis catus KLC2 VGNC VGNC:63127
Rattus norvegicus KLC2 RGD RGD:1307377
Others KLC2 NCBI