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Aliases for KIF5C Gene

Aliases for KIF5C Gene

  • Kinesin Family Member 5C 2 3 5
  • Kinesin Heavy Chain Neuron-Specific 2 3 4
  • NKHC2 3 4
  • Kinesin Heavy Chain Isoform 5C 3
  • Kinesin Heavy Chain 3
  • KIAA0531 4
  • CDCBM2 3
  • NKHC-2 3
  • KINN 3
  • NKHC 3

External Ids for KIF5C Gene

Previous GeneCards Identifiers for KIF5C Gene

  • GC02M148723
  • GC02M149409
  • GC02P149805
  • GC02P149996
  • GC02P149466
  • GC02P149349
  • GC02P149632
  • GC02P141630

Summaries for KIF5C Gene

Entrez Gene Summary for KIF5C 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 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]

GeneCards Summary for KIF5C Gene

KIF5C (Kinesin Family Member 5C) is a Protein Coding gene. Diseases associated with KIF5C include Cortical Dysplasia, Complex, With Other Brain Malformations 2 and Complex Cortical Dysplasia With Other Brain Malformations. Among its related pathways are Metabolism of proteins and Circadian entrainment. Gene Ontology (GO) annotations related to this gene include ATPase activity and microtubule motor activity. An important paralog of this gene is KIF5B.

UniProtKB/Swiss-Prot for KIF5C Gene

  • Involved in synaptic transmission (PubMed:24812067). Mediates dendritic trafficking of mRNAs (By similarity). Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport.

Gene Wiki entry for KIF5C Gene

Additional gene information for KIF5C Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIF5C Gene

Genomics for KIF5C Gene

GeneHancer (GH) Regulatory Elements for KIF5C Gene

Promoters and enhancers for KIF5C Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J148875 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 667.2 +1.0 996 2.4 PKNOX1 ATF1 FOXA2 SIN3A ZBTB40 ETS1 ZNF335 GLIS2 ZNF143 ATF7 KIF5C PIR32637 LOC101928553
GH02J148947 Promoter 0.5 EPDnew 650.2 +72.6 72633 0.1 KIF5C LOC101928553 LYPD6B
GH02J148926 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.4 +51.8 51772 1.6 CTCF KLF1 LEF1 ARNT ZSCAN4 RAD21 CTBP1 POLR2A ZNF143 SMC3 LOC101928553 KIF5C LOC100420351 RPS20P13 LYPD6B GC02M148910
GH02J148812 Enhancer 1 Ensembl ENCODE 10.9 -61.6 -61619 3.1 PKNOX1 SIN3A STAT5A BATF IRF4 ZNF335 ZNF143 ATF7 ETV6 BCLAF1 LOC101928553 RPS20P13 LOC100420351 KIF5C EPC2 RNU2-9P GC02P148794 GC02M148813
GH02J149068 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 6.1 +194.4 194365 2.1 CLOCK NFIB NEUROD1 SIN3A BMI1 FOS RCOR1 CEBPB GATAD2B ELF1 TXNP5 GC02M149069 LYPD6B KIF5C GC02M149098
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KIF5C on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KIF5C gene promoter:
  • AREB6
  • CUTL1
  • NF-kappaB1
  • Gfi-1
  • GATA-1
  • YY1
  • NF-1
  • FOXF2
  • GR-beta
  • GR-alpha

Genomic Locations for KIF5C Gene

Genomic Locations for KIF5C Gene
chr2:148,875,223-149,026,759
(GRCh38/hg38)
Size:
151,537 bases
Orientation:
Plus strand
chr2:149,632,819-149,883,273
(GRCh37/hg19)
Size:
250,455 bases
Orientation:
Plus strand

Genomic View for KIF5C Gene

Genes around KIF5C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIF5C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIF5C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIF5C Gene

Proteins for KIF5C Gene

  • Protein details for KIF5C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60282-KIF5C_HUMAN
    Recommended name:
    Kinesin heavy chain isoform 5C
    Protein Accession:
    O60282
    Secondary Accessions:
    • O95079
    • Q2YDC5

    Protein attributes for KIF5C Gene

    Size:
    957 amino acids
    Molecular mass:
    109495 Da
    Quaternary structure:
    • Oligomer composed of two heavy chains and two light chains. Interacts with GRIP1 and KLC3 (By similarity). Interacts with TRAK1 (PubMed:15644324). Interacts with ZFYVE27 (By similarity).
    SequenceCaution:
    • Sequence=BAA25457.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for KIF5C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIF5C Gene

Post-translational modifications for KIF5C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KIF5C Gene

No data available for DME Specific Peptides for KIF5C Gene

Domains & Families for KIF5C Gene

Gene Families for KIF5C Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for KIF5C Gene

Graphical View of Domain Structure for InterPro Entry

O60282

UniProtKB/Swiss-Prot:

KIF5C_HUMAN :
  • Composed of three structural domains: a large globular N-terminal domain which is responsible for the motor activity of kinesin (it hydrolyzes ATP and binds microtubule), a central alpha-helical coiled coil domain that mediates the heavy chain dimerization; and a small globular C-terminal domain which interacts with other proteins (such as the kinesin light chains), vesicles and membranous organelles.
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesin subfamily.
Domain:
  • Composed of three structural domains: a large globular N-terminal domain which is responsible for the motor activity of kinesin (it hydrolyzes ATP and binds microtubule), a central alpha-helical coiled coil domain that mediates the heavy chain dimerization; and a small globular C-terminal domain which interacts with other proteins (such as the kinesin light chains), vesicles and membranous organelles.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesin subfamily.
genes like me logo Genes that share domains with KIF5C: view

Function for KIF5C Gene

Molecular function for KIF5C Gene

UniProtKB/Swiss-Prot Function:
Involved in synaptic transmission (PubMed:24812067). Mediates dendritic trafficking of mRNAs (By similarity). Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport.

Phenotypes From GWAS Catalog for KIF5C Gene

Gene Ontology (GO) - Molecular Function for KIF5C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003777 microtubule motor activity TAS,IEA 9782088
GO:0005515 protein binding IPI 15644324
GO:0005524 ATP binding IEA --
GO:0008017 microtubule binding IEA --
GO:0008574 ATP-dependent microtubule motor activity, plus-end-directed IBA --
genes like me logo Genes that share ontologies with KIF5C: view
genes like me logo Genes that share phenotypes with KIF5C: view

Human Phenotype Ontology for KIF5C Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KIF5C Gene

MGI Knock Outs for KIF5C:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KIF5C Gene

Localization for KIF5C Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIF5C Gene

Cytoplasm, cytoskeleton. Cell projection, dendrite. Note=Abundant in distal regions of dendrites. {ECO:0000269 PubMed:24812067}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KIF5C gene
Compartment Confidence
cytoskeleton 5
cytosol 4
nucleus 3
plasma membrane 2
peroxisome 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for KIF5C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005871 kinesin complex TAS 9782088
GO:0005874 microtubule IEA --
GO:0035253 ciliary rootlet IEA --
genes like me logo Genes that share ontologies with KIF5C: view

Pathways & Interactions for KIF5C Gene

genes like me logo Genes that share pathways with KIF5C: view

Pathways by source for KIF5C Gene

2 KEGG pathways for KIF5C Gene
1 GeneGo (Thomson Reuters) pathway for KIF5C Gene

Gene Ontology (GO) - Biological Process for KIF5C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006996 organelle organization TAS 9782088
GO:0007018 microtubule-based movement IEA,IBA --
GO:0007411 axon guidance IBA --
GO:0008045 motor neuron axon guidance IEA --
GO:0008104 protein localization IBA --
genes like me logo Genes that share ontologies with KIF5C: view

No data available for SIGNOR curated interactions for KIF5C Gene

Drugs & Compounds for KIF5C Gene

No Compound Related Data Available

Transcripts for KIF5C Gene

mRNA/cDNA for KIF5C Gene

Unigene Clusters for KIF5C Gene

Kinesin family member 5C:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KIF5C Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b
SP1: - -
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for KIF5C Gene

GeneLoc Exon Structure for
KIF5C
ECgene alternative splicing isoforms for
KIF5C

Expression for KIF5C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KIF5C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KIF5C Gene

This gene is overexpressed in Brain - Amygdala (x5.8), Brain - Anterior cingulate cortex (BA24) (x5.1), Brain - Cortex (x5.0), Brain - Frontal Cortex (BA9) (x4.7), Brain - Hippocampus (x4.6), and Brain - Cerebellar Hemisphere (x4.1).

Protein differential expression in normal tissues from HIPED for KIF5C Gene

This gene is overexpressed in Fetal Brain (26.7), Frontal cortex (9.2), Brain (8.2), Ovary (6.8), and Spinal cord (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KIF5C Gene



Protein tissue co-expression partners for KIF5C Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KIF5C Gene:

KIF5C

SOURCE GeneReport for Unigene cluster for KIF5C Gene:

Hs.435557

mRNA Expression by UniProt/SwissProt for KIF5C Gene:

O60282-KIF5C_HUMAN
Tissue specificity: Highest expression in brain, prostate and testis, and moderate expression in kidney, small intestine and ovary.

Evidence on tissue expression from TISSUES for KIF5C Gene

  • Nervous system(5)
  • Lung(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KIF5C Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • head
  • skull
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • spinal cord
genes like me logo Genes that share expression patterns with KIF5C: view

Orthologs for KIF5C Gene

This gene was present in the common ancestor of animals.

Orthologs for KIF5C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIF5C 34 33
  • 99.65 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KIF5C 34 33
  • 93.03 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KIF5C 34 33
  • 92.76 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIF5C 34
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kif5c 33
  • 90.12 (n)
mouse
(Mus musculus)
Mammalia Kif5c 16 34 33
  • 89.75 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 31 (a)
OneToMany
chicken
(Gallus gallus)
Aves KIF5C 34 33
  • 84.41 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIF5C 34
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kif5c 33
  • 78.33 (n)
Str.12975 33
zebrafish
(Danio rerio)
Actinopterygii kif5c 34 33
  • 73.99 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Khc 34
  • 61 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-116 34
  • 54 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 63 (a)
OneToMany
Species where no ortholog for KIF5C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KIF5C Gene

ENSEMBL:
Gene Tree for KIF5C (if available)
TreeFam:
Gene Tree for KIF5C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KIF5C: view image

Paralogs for KIF5C Gene

genes like me logo Genes that share paralogs with KIF5C: view

Variants for KIF5C Gene

Sequence variations from dbSNP and Humsavar for KIF5C Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs587777035 pathogenic, Cortical dysplasia, complex, with other brain malformations 2, Cortical dysplasia, complex, with other brain malformations 2 (CDCBM2) [MIM:615282] 148,947,019(+) A/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant
rs587777570 pathogenic, Cortical dysplasia, complex, with other brain malformations 2, not provided, Cortical dysplasia, complex, with other brain malformations 2 (CDCBM2) [MIM:615282] 148,947,018(+) G/A coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant
rs1057523537 likely-benign, not specified 148,941,598(+) G/A/C genic_upstream_transcript_variant, intron_variant
rs202039159 likely-benign, not specified 149,011,665(+) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs202156950 likely-benign, not specified 148,991,074(+) T/A/C coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for KIF5C Gene

Variant ID Type Subtype PubMed ID
esv2664279 CNV deletion 23128226
esv2751831 CNV gain 17911159
esv3592853 CNV loss 21293372
nsv2963 CNV insertion 18451855
nsv473264 CNV novel sequence insertion 20440878
nsv473956 CNV novel sequence insertion 20440878
nsv475150 CNV novel sequence insertion 20440878
nsv479307 CNV novel sequence insertion 20440878
nsv479767 CNV novel sequence insertion 20440878
nsv479910 CNV novel sequence insertion 20440878
nsv480410 CNV novel sequence insertion 20440878
nsv480451 CNV novel sequence insertion 20440878
nsv480911 CNV novel sequence insertion 20440878
nsv508874 CNV insertion 20534489
nsv834407 CNV loss 17160897
nsv834408 CNV gain 17160897
nsv955264 CNV deletion 24416366
nsv979133 CNV duplication 23825009

Variation tolerance for KIF5C Gene

Gene Damage Index Score: 2.02; 37.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KIF5C Gene

Human Gene Mutation Database (HGMD)
KIF5C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIF5C

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIF5C Gene

Disorders for KIF5C Gene

MalaCards: The human disease database

(4) MalaCards diseases for KIF5C Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search KIF5C in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KIF5C_HUMAN
  • Cortical dysplasia, complex, with other brain malformations 2 (CDCBM2) [MIM:615282]: A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include intrauterine growth retardation, fetal akinesia, seizures, microcephaly, lack of psychomotor development, and arthrogryposis. Brain imaging shows malformations of cortical development, including polymicrogyria, gyral simplification, and thin corpus callosum. {ECO:0000269 PubMed:23033978, ECO:0000269 PubMed:23603762, ECO:0000269 PubMed:24812067, ECO:0000269 PubMed:29048727}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for KIF5C

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with KIF5C: view

No data available for Genatlas for KIF5C Gene

Publications for KIF5C Gene

  1. Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development. (PMID: 29048727) Michels S … Mirzaa GM (American journal of medical genetics. Part A 2017) 3 4 58
  2. Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function. (PMID: 24812067) Willemsen MH … Kleefstra T (Journal of medical genetics 2014) 3 4 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. GRIF-1 and OIP106, members of a novel gene family of coiled-coil domain proteins: association in vivo and in vitro with kinesin. (PMID: 15644324) Brickley K … Stephenson FA (The Journal of biological chemistry 2005) 3 4 58
  5. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9628581) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 3 4 58

Products for KIF5C Gene

Sources for KIF5C Gene

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