KIF5C - kinesin family member 5C Gene

Homo sapiens

Also known as KINN; NKHC; NKHC2; CDCBM2; NKHC-2

Gene ID: 3800 | Gene type: protein coding

About 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.

Summary

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 Products(1)

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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15644324	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KIF5C Protein Structure

Kinesin

0
200
400
600
800
957 a.a.

Protein Preferred Names

Protein Names

kinesin heavy chain isoform 5C

kinesin heavy chain

kinesin heavy chain neuron-specific 2

KIF5C Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	KIF5C	O60282	RHOT1	Homo sapiens	Q8IXI2	Anti Tag CoIP	19135897
Intra	KIF5C	O60282	RHOT1	Homo sapiens	Q8IXI2	Solution Sedimentation	19135897
Intra	KIF5C	O60282	CSNK2A2	Homo sapiens	P19784	Pull Down	19011756
Intra	KIF5C	O60282	CSNK2A2	Homo sapiens	P19784	SPR	19011756
Intra	KIF5C	O60282	CSNK2A2	Homo sapiens	P19784	Anti Bait CoIP	19011756
Intra	KIF5C	O60282	CSNK2A1	Homo sapiens	P68400	Y2H	19011756
Intra	KIF5C	O60282	CSNK2A1	Homo sapiens	P68400	IF	19011756

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07291	KIF5C Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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