KIF5C - kinesin family member 5C Gene

中文名称：驱动蛋白家族成员 5C

种属: Homo sapiens

同用名: KINN; NKHC; NKHC2; CDCBM2; NKHC-2

基因 ID: 3800 | 基因类型: protein coding

关于 KIF5C

Cytogenetic location: 2q23.1-q23.2 Genomic coordinates (GRCh38): 2:148,875,227-149,026,759 (from NCBI)

This gene has 37 transcripts (splice variants), 1 gene allele, 217 orthologues, 41 paralogues and is associated with 2 phenotypes. Biased expression in brain (RPKM 82.3), testis (RPKM 17.1) and 2 other tissues.

功能概要

该基因编码的蛋白质是一种驱动蛋白重链亚基，参与中枢神经系统内的货物运输。编码的蛋白质通过与另一条重链和两条轻链结合而作为四聚体，与蛋白激酶 CK2 相互作用。该基因的突变与复杂的皮质发育不良和其他脑畸形有关 - 2。已发现该基因的两种转录变体，一种是蛋白质编码，另一种是非蛋白质编码。[RefSeq 提供，2015 年 7 月]

The protein encoded by this gene is a Kinesin heavy chain subunit involved in the transport of cargo within the central nervous system. The encoded protein, which acts as a tetramer by associating with another heavy chain and two light chains, interacts with protein kinase CK2. Mutations in this gene have been associated with complex cortical dysplasia with Other brain malformations-2. Two transcript variants, one protein-coding and the Other non-protein coding, have been found for this gene. [provided by RefSeq, Jul 2015]

KIF5C 基因产物(1)

mRNA	Protein	Name
NM_004522.3	NP_004513.1	kinesin heavy chain isoform 5C

基因本体论

分子功能

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	15644324	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

KIF5C 蛋白结构

Kinesin

0
200
400
600
800
957 a.a.

蛋白主名

其他名称

kinesin heavy chain isoform 5C

kinesin heavy chain

kinesin heavy chain neuron-specific 2

KIF5C 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	KIF5C	O60282	RHOT1	Homo sapiens	Q8IXI2	Anti Tag CoIP	19135897
种属内	KIF5C	O60282	RHOT1	Homo sapiens	Q8IXI2	Solution Sedimentation	19135897
种属内	KIF5C	O60282	CSNK2A2	Homo sapiens	P19784	Pull Down	19011756
种属内	KIF5C	O60282	CSNK2A2	Homo sapiens	P19784	SPR	19011756
种属内	KIF5C	O60282	CSNK2A2	Homo sapiens	P19784	Anti Bait CoIP	19011756
种属内	KIF5C	O60282	CSNK2A1	Homo sapiens	P68400	Y2H	19011756
种属内	KIF5C	O60282	CSNK2A1	Homo sapiens	P68400	IF	19011756

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 2

Complex Cortical Dysplasia With Other Brain Malformations 2	CDCBM2
Dysplasia ,Cortical, Complex, With Other Brain Malformations, Type 2

Mbd5 Haploinsufficiency

2q23.1 Microdeletion Syndrome	2q23.1 Microduplication Syndrome
Del(2)(Q23.1)	Monosomy 2q23.1
Pseudo-Angelman Syndrome	Mbd5 Associated Neurodevelopmental Disorder
Chromosome 2q23.1 Microdeletion Syndrome	Mbd5-Associated Neurodevelopmental Disorder
Mand	Dup(2)(Q23.1)
Trisomy 2q23.1

Complex Cortical Dysplasia With Other Brain Malformations

Cdcbm	Dysplasia, Cortical, Complex, With Other Brain Malformations
Dysplasia ,Cortical, Complex, With Other Brain Malformations

Polymicrogyria

Pmg

Myasthenic Syndrome, Congenital, 16

Congenital Myasthenic Syndrome 16	CMS16
Myasthenic Syndrome, Congenital, Acetazolamide-Responsive	Congenital Myasthenic Syndrome Acetazolamide-Responsive
Congenital Myasthenic Syndrome Due To Mutation In Scn4a	Congenital Myasthenic Syndrome Scn4a-Related

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

Spastic Paraplegia 10, Autosomal Dominant

SPG10	Hereditary Spastic Paraplegia 10
Autosomal Dominant Spastic Paraplegia Type 10	Spastic Paraplegia 10
Spastic Paraplegia 10 With Or Without Peripheral Neuropathy	Autosomal Dominant Spastic Paraplegia 10
Autosomal Dominant Spastic Paraplegia	Spastic Paraplegia, Autosomal Dominant
Paraplegia, Spastic, Autosomal Dominant, Type 10

Tubulinopathy

Tubulinopathies

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Microlissencephaly

Goldberg-Shprintzen Syndrome

Goldberg-Shprintzen Megacolon Syndrome	GOSHS
Megacolon-Microcephaly Syndrome

Congenital Fibrosis Of The Extraocular Muscles

Congenital Fibrosis Of Extraocular Muscles	Cfeom
Feom	Congenital External Ophthalmoplegia
Congenital Fibrosis Syndrome	General Fibrosis Syndrome

Spastic Paraplegia 2, X-Linked

SPG2	Hereditary Spastic Paraplegia 2
Sppx2	Spastic Paraplegia Type 2
Spastic Paraplegia 2	Hereditary X-Linked Recessive Spastic Paraplegia
X-Linked Spastic Paraplegia 2	X Linked Recessive Hereditary Spastic Paraplegia
Spastic Gait Type 2	Spastic Paraparesis Type 2
X-Linked Spastic Paraplegia Type 2	Spastic Paraplegia Type 2, X-Linked
Spastic Paraplegia-2	Paraplegia, Spastic, Type 2

Polymicrogyria, Bilateral Perisylvian, X-Linked

Bilateral Perisylvian Polymicrogyria	Polymicrogyria, Bilateral Perisylvian
Pmgx	Perisylvian Syndrome, Congenital Bilateral
Cbps	Congenital Bilateral Perisylvian Syndrome
Perisylvian Syndrome	BPPX
Bpp

Periventricular Nodular Heterotopia

Periventricular Heterotopia	Pvnh
Familial Nodular Heterotopia	Heterotopia, Periventricular
Periventricular Heterotopia, X-Linked

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

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS07291	KIF5C Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	KIF5C	VGNC	VGNC:74021
Rattus norvegicus	KIF5C	RGD	RGD:1308539
Felis catus	KIF5C	VGNC	VGNC:67946
Canis familiaris	KIF5C	VGNC	VGNC:42409
Mus musculus	KIF5C	MGD	MGI:1098269
Bos taurus	KIF5C	VGNC	VGNC:30607

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

KIF5C - kinesin family member 5C Gene

关于 KIF5C

功能概要

KIF5C 基因产物(1)

KIF5C 蛋白结构

KIF5C 蛋白互作信息

关联疾病

直系同源

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KIF5C - kinesin family member 5C Gene

关于 KIF5C

功能概要

KIF5C 基因产物(1)

KIF5C 蛋白结构

KIF5C 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z