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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
24
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Complex cortical dysplasia with other brain malformations 2 Likely pathogenic; Pathogenic rs2105091650, rs587777570, rs1215264639, rs2468202034, rs587777035, rs1553463778 RCV004804254
RCV000128852
RCV002510719
RCV004804589
RCV003326039
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arthrogryposis Arthrogryposis multiplex congenita HPO_DG
★☆☆☆☆
Found in Text Mining only
Congenital anomaly of brain Brain malformation BEFREE 29048727
★☆☆☆☆
Found in Text Mining only
Cortical Dysplasia Cortical Dysplasia CTD_human_DG 23603762
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cortical Dysplasia Cortical Dysplasia HPO_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 Cortical Dysplasia With Other Brain Malformations UNIPROT_DG 23033978, 23603762, 24812067, 29048727
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 Cortical Dysplasia With Other Brain Malformations CLINVAR_DG 23033978, 24812067, 26633545
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 Cortical Dysplasia With Other Brain Malformations GENOMICS_ENGLAND_DG 23603762, 29048727
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 Cortical Dysplasia With Other Brain Malformations CTD_human_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Developmental Disabilities Developmental disability Pubtator 29048727 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Epilepsy Epilepsy BEFREE 29048727
★☆☆☆☆
Found in Text Mining only