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  2. KIF2A - kinesin family member 2A Gene

KIF2A - kinesin family member 2A Gene

中文名称:驱动蛋白家族成员 2A

种属: Homo sapiens

同用名: HK2; KIF2; CDCBM3

基因 ID: 3796 | 基因类型: protein coding

关于 KIF2A

Cytogenetic location: 5q12.1 Genomic coordinates (GRCh38): 5:62,306,206-62,391,025 (from NCBI)

This gene has 21 transcripts (splice variants), 290 orthologues, 41 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 17.8), brain (RPKM 16.2) and 24 other tissues.

功能概要

由该基因编码的蛋白质是正常有丝分裂进程所需的正末端定向马达。编码的蛋白质是有丝分裂期间正常纺锤体活动所必需的,也是正常大脑发育所必需的。已发现该基因编码不同亚型的几种转录变体。[RefSeq 提供,2011 年 9 月]

The protein encoded by this gene is a plus end-directed motor required for normal mitotic progression. The encoded protein is required for normal spindle activity during mitosis and is necessary for normal brain development. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

KIF2A 基因产物(4)

mRNA Protein Name
NM_001098511.3 NP_001091981.1 kinesin-like protein KIF2A isoform 2
NM_001243952.2 NP_001230881.2 kinesin-like protein KIF2A isoform 3
NM_001243953.2 NP_001230882.1 kinesin-like protein KIF2A isoform 4
NM_004520.5 NP_004511.2 kinesin-like protein KIF2A 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 microtubule binding IDA
IDA: 通过直接分析推断
26323690 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
18411309 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in microtubule cytoskeleton organization IGI
IGI: 通过遗传相互作用推断
26323690 GOA
involved in mitotic spindle assembly IMP
IMP: 通过突变表型推断
15843429 GOA
involved in mitotic spindle organization IDA
IDA: 通过直接分析推断
18411309 GOA
involved in regulation of cell migration IGI
IGI: 通过遗传相互作用推断
26323690 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of centriolar subdistal appendage IDA
IDA: 通过直接分析推断
23213374 GOA
located in centriole IDA
IDA: 通过直接分析推断
23213374 GOA
located in centrosome IDA
IDA: 通过直接分析推断
21399614 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
26323690 GOA
colocalizes with microtubule IDA
IDA: 通过直接分析推断
26323690 GOA
colocalizes with spindle microtubule IDA
IDA: 通过直接分析推断
18411309 GOA
colocalizes with spindle pole IDA
IDA: 通过直接分析推断
18411309 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

KIF2A 蛋白结构

Kinesin

Kinesin: Kinesin motor domain (229 - 552)

  • 0
  • 200
  • 400
  • 600
  • 706 a.a.
蛋白主名 其他名称

kinesin-like protein KIF2A

Kinesin, heavy chain, 2

KIF2A 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
Intra KIF2A O00139 CEP170 Homo sapiens Q5SW79
Anti Tag CoIP
26496610
Intra KIF2A O00139 MRPL53 Homo sapiens Q96EL3
Y2H Array
25416956
Intra KIF2A O00139 LARP1B Homo sapiens Q659C4
Y2H Array
25416956
Intra KIF2A O00139 FAM13C Homo sapiens Q8NE31
Y2H Array
31515488
Intra KIF2A O00139 FAM13C Homo sapiens Q8NE31
Y2H Array
25416956
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
Cortical Dysplasia, Complex, With Other Brain Malformations 3

Complex Cortical Dysplasia With Other Brain Malformations 3

CDCBM3

Dysplasia ,Cortical, Complex, With Other Brain Malformations, Type 3

Band Heterotopia

Subcortical Band Heterotopia

Double Cortex Syndrome

Subcortical Laminar Heterotopia

Double Cortex

Band Heterotopia Of Brain

BH

Heco

Heterotopic Cortex

Familial Band Heterotopia

Dc

Dc Syndrome

Heterotopia, Subcortical Band

Sbh

Sclh

Bhy

Complex Cortical Dysplasia With Other Brain Malformations

Cdcbm

Dysplasia, Cortical, Complex, With Other Brain Malformations

Dysplasia ,Cortical, Complex, With Other Brain Malformations

Bardet-Biedl Syndrome 8

BBS8

Bardet-Biedl Syndrome, Type 8

Tubulinopathy

Tubulinopathies

Spinal Muscular Atrophy With Lower Extremity Predominant

Spinal Muscular Atrophy With Lower Extremity Predominance

Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy With Contractures

Kugelberg-Welander Syndrome, Autosomal Dominant

Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy With Contractures

Sma-Led

Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant

Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant

Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

Spinal Muscular Atrophy, Lower Extremity, Dominant

Congenital Fibrosis Of The Extraocular Muscles

Congenital Fibrosis Of Extraocular Muscles

Cfeom

Feom

Congenital External Ophthalmoplegia

Congenital Fibrosis Syndrome

General Fibrosis Syndrome

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Primary Microcephaly

True Microcephaly

Microcephaly, Primary

Mosaic Variegated Aneuploidy Syndrome

Warburton-Anyane-Yeboa Syndrome

Mva Syndrome

Mosaic Variegated Aneuplody Microcephaly Syndrome

Warburton Anyane Yeboa Syndrome

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly

Periventricular Nodular Heterotopia

Periventricular Heterotopia

Pvnh

Familial Nodular Heterotopia

Heterotopia, Periventricular

Periventricular Heterotopia, X-Linked

Walker-Warburg Syndrome

Hard Syndrome

Walker-Warburg Congenital Muscular Dystrophy

Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

Cod-Md Syndrome

Chemke Syndrome

Hydrocephalus, Agyria And Retinal Dysplasia

Cerebroocular Dysgenesis

Cerebroocular Dysplasia Muscular Dystrophy Syndrome

Hard +/- E Syndrome

Pagon Syndrome

Warburg Syndrome

Hydrocephalus, Agyria, And Retinal Dysplasia

Mddga

Muscular Dystrophy-Dystroglycanopathy , Type A

Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A

Hydrocephalus-Agyria-Retinal Dysplasia Syndrome

Wws

Dystrophy, Muscular, Dystroglycanopathy, Type A

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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 KIF2A VGNC VGNC:74016
Canis familiaris KIF2A VGNC VGNC:42402
Bos taurus KIF2A VGNC VGNC:30599
Mus musculus KIF2A MGD MGI:108390
Rattus norvegicus KIF2A RGD RGD:70974
Felis catus KIF2A VGNC VGNC:67940