Gene Gene information from NCBI Gene database.
Entrez ID 3800
Gene name Kinesin family member 5C
Gene symbol KIF5C
Synonyms (NCBI Gene)
CDCBM2KINNNKHCNKHC-2NKHC2
Chromosome 2
Chromosome location 2q23.1-q23.2
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 w
SNPs SNP information provided by dbSNP.
2
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.
410
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003777 Function Microtubule motor activity IEA
GO:0003777 Function Microtubule motor activity TAS 9782088
GO:0005515 Function Protein binding IPI 15644324, 19011756, 19135897, 32296183
GO:0005524 Function ATP binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604593 6325 ENSG00000168280
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
68
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Complex cortical dysplasia with other brain malformations 2 Likely pathogenic; Pathogenic rs2105091650, rs587777570, rs1215264639, rs2468202034, rs587777035, rs1553463778 RCV004804254
RCV000128852
RCV002510719
RCV004804589
RCV003326039
RCV004802286
RCV000055625
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs73970611 RCV005917084
Cervical cancer Benign rs73011353 RCV005925231
Craniosynostosis syndrome Conflicting classifications of pathogenicity rs777411017 RCV005622172
Developmental disorder Uncertain significance rs2468228826 RCV003127307
Associations from Text MiningDisease associations identified through Pubtator
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