Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3800
Gene name Gene Name - the full gene name approved by the HGNC.
Kinesin family member 5C
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KIF5C
Synonyms (NCBI Gene) Gene synonyms aliases
CDCBM2, KINN, NKHC, NKHC-2, NKHC2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CDCBM2
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q23.1-q23.2
Summary Summary of gene provided in NCBI Entrez Gene.
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 w
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs587777035 A>T Pathogenic Missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs587777570 G>A Pathogenic Missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT024749 hsa-miR-215-5p Microarray 19074876
MIRT026185 hsa-miR-192-5p Microarray 19074876
MIRT050891 hsa-miR-17-5p CLASH 23622248
MIRT047105 hsa-miR-183-5p CLASH 23622248
MIRT046723 hsa-miR-222-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003777 Function Microtubule motor activity IBA 21873635
GO:0005515 Function Protein binding IPI 15644324, 19011756, 19135897
GO:0005524 Function ATP binding IEA
GO:0005871 Component Kinesin complex IBA 21873635
GO:0005874 Component Microtubule IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604593 6325 ENSG00000168280
Protein
UniProt ID O60282
Protein name Kinesin heavy chain isoform 5C (EC 3.6.4.-) (Kinesin heavy chain neuron-specific 2) (Kinesin-1)
Protein function Microtubule-associated force-producing protein that may play a role in organelle transport. Has ATPase activity (By similarity). Involved in synaptic transmission (PubMed:24812067). Mediates dendritic trafficking of mRNAs (By similarity). Requir
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00225 Kinesin 14 327 Kinesin motor domain Domain
Tissue specificity TISSUE SPECIFICITY: Highest expression in brain, prostate and testis, and moderate expression in kidney, small intestine and ovary.
Sequence
MADPAECSIKVMCRFRPLNEAEILRGDKFIPKFKGDETVVIGQGKPYVFDRVLPPNTTQE
QVYNACAKQIVKDVLEGYNGTIFAYGQTSSGKTHTMEGKLHDPQLMGIIPRIAHDIFDHI
YSMDENLEFHIKVSYFEIYLDKIRDLLDVSKTNLAVHEDKNRVPYVKGCTERFVSSPEEV
MDVIDEGKANRHVAVTNMNEHSSRSHSIFLINIKQENVETEKKLSGKLYLVDLAGSEKVS
KTGAEGAVLDEAKNINKSLSALGNVISALAEGTKTHVPYRDSKMTRILQDSLGGNCRTTI
VICCSPSVFNEAETKSTLMFGQRAKTI
KNTVSVNLELTAEEWKKKYEKEKEKNKTLKNVI
QHLEMELNRWRNGEAVPEDEQISAKDQKNLEPCDNTPIIDNIAPVVAGISTEEKEKYDEE
ISSLYRQLDDKDDEINQQSQLAEKLKQQMLDQDELLASTRRDYEKIQEELTRLQIENEAA
KDEVKEVLQALEELAVNYDQKSQEVEDKTRANEQLTDELAQKTTTLTTTQRELSQLQELS
NHQKKRATEILNLLLKDLGEIGGIIGTNDVKTLADVNGVIEEEFTMARLYISKMKSEVKS
LVNRSKQLESAQMDSNRKMNASERELAACQLLISQHEAKIKSLTDYMQNMEQKRRQLEES
QDSLSEELAKLRAQEKMHEVSFQDKEKEHLTRLQDAEEMKKALEQQMESHREAHQKQLSR
LRDEIEEKQKIIDEIRDLNQKLQLEQEKLSSDYNKLKIEDQEREMKLEKLLLLNDKREQA
REDLKGLEETVSRELQTLHNLRKLFVQDLTTRVKKSVELDNDDGGGSAAQKQKISFLENN
LEQLTKVHKQLVRDNADLRCELPKLEKRLRATAERVKALESALKEAKENAMRDRKRYQQE
VDRIKEAVRAKNMARRAHSAQIAKPIRPGHYPASSPTAVHAIRGGGGSSSNSTHYQK
Sequence length 957
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Endocytosis
Dopaminergic synapse
Motor proteins
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Salmonella infection
Non-small cell lung cancer
 
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Arthrogryposis multiplex congenita Arthrogryposis rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835
View all (138 more)
Cortical dysplasia with other brain malformations CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 rs137853194, rs137853195, rs137853196, rs267607164, rs267607165, rs878853256, rs878853257, rs878853258, rs397514567, rs397514569, rs398123045, rs398123046, rs398123047, rs587777033, rs587777034
View all (45 more)
23033978, 26633545, 24812067, 23603762, 29048727
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Microcephaly Microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)
23603762
Unknown
Disease term Disease name Evidence References Source
Cortical Dysplasia complex cortical dysplasia with other brain malformations 2 GenCC
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
Central Nervous System Vascular Malformations Associate 29048727
Developmental Disabilities Associate 29048727
Epilepsy Associate 29048727
Epilepsy Benign Neonatal Associate 29048727
Language Disorders Associate 29048727
Lissencephaly Associate 25140959
Macular dystrophy corneal type 1 Associate 29048727
Malformations of Cortical Development Associate 29048727
Polymicrogyria Associate 29048727
Thyroid cancer medullary Associate 36713370