KIF5C - kinesin family member 5C Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3800

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	References	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

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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

KIF5C Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83396	KIF5B Antibody (YA3141)	WB, IHC-F, IHC-P, ICC/IF, FC, IP	Human, Mouse, Rat
HY-P83396A	KIF5B Antibody (YA3141)(PBS only)	WB, IHC-F, IHC-P, ICC/IF, FC, IP	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07291	KIF5C Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22598	Kif5c Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29115	Kif5c Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	KIF5C	NCBI