Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3796
Gene name Gene Name - the full gene name approved by the HGNC.
Kinesin family member 2A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KIF2A
Synonyms (NCBI Gene) Gene synonyms aliases
CDCBM3, HK2, KIF2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CDCBM3
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q12.1
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a plus end-directed motor required for normal mitotic progression. The encoded protein is required for normal spindle activity during mitosis and is necessary for normal brain development. Several transcript variants en
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs587777033 C>G,T Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs587777034 G>A Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs1554042050 C>T Pathogenic-likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs1561273261 G>A Likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs1580059038 C>T Pathogenic Non coding transcript variant, stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT003853 hsa-miR-1-3p pSILAC 18668040
MIRT004016 hsa-miR-183-5p Immunoblot, Immunocytochemistry, Luciferase reporter assay, qRT-PCR 19940135
MIRT003853 hsa-miR-1-3p Luciferase reporter assay, Microarray 15685193
MIRT003853 hsa-miR-1-3p Proteomics 18668040
MIRT003853 hsa-miR-1-3p Proteomics;Microarray 18668037
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000226 Process Microtubule cytoskeleton organization IGI 26323690
GO:0000922 Component Spindle pole IDA 18411309
GO:0003774 Function Motor activity TAS 9177777
GO:0003777 Function Microtubule motor activity IBA 21873635
GO:0005515 Function Protein binding IPI 18411309, 25416956, 31515488
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602591 6318 ENSG00000068796
Protein
UniProt ID O00139
Protein name Kinesin-like protein KIF2A (Kinesin-2) (hK2)
Protein function Plus end-directed microtubule-dependent motor required for normal brain development. May regulate microtubule dynamics during axonal growth. Required for normal progression through mitosis. Required for normal congress of chromosomes at the meta
PDB 2GRY , 6BBN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00225 Kinesin 229 553 Kinesin motor domain Domain
Sequence
MATANFGKIQIGIYVEIKRSDGRIHQAMVTSLNEDNESVTVEWIENGDTKGKEIDLESIF
SLNPDLVPDEEIEPSPETPPPPASSAKVNKIVKNRRTVASIKNDPPSRDNRVVGSARARP
SQFPEQSSSAQQNGSVSDISPVQAAKKEFGPPSRRKSNCVKEVEKLQEKREKRRLQQQEL
REKRAQDVDATNPNYEIMCMIRDFRGSLDYRPLTTADPIDEHRICVCVRKRPLNKKETQM
KDLDVITIPSKDVVMVHEPKQKVDLTRYLENQTFRFDYAFDDSAPNEMVYRFTARPLVET
IFERGMATCFAYGQTGSGKTHTMGGDFSGKNQDCSKGIYALAARDVFLMLKKPNYKKLEL
QVYATFFEIYSGKVFDLLNRKTKLRVLEDGKQQVQVVGLQEREVKCVEDVLKLIDIGNSC
RTSGQTSANAHSSRSHAVFQIILRRKGKLHGKFSLIDLAGNERGADTSSADRQTRLEGAE
INKSLLALKECIRALGRNKPHTPFRASKLTQVLRDSFIGENSRTCMIATISPGMASCENT
LNTLRYANRVKEL
TVDPTAAGDVRPIMHHPPNQIDDLETQWGVGSSPQRDDLKLLCEQNE
EEVSPQLFTFHEAVSQMVEMEEQVVEDHRAVFQESIRWLEDEKALLEMTEEVDYDVDSYA
TQLEAILEQKIDILTELRDKVKSFRAALQEEEQASKQINPKRPRAL
Sequence length 706
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Motor proteins   Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
MHC class II antigen presentation
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
RHO GTPases Activate Formins
COPI-dependent Golgi-to-ER retrograde traffic
Mitotic Prometaphase
EML4 and NUDC in mitotic spindle formation
Kinesins
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cortical dysplasia with other brain malformations CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 rs137853194, rs137853195, rs137853196, rs267607164, rs267607165, rs878853256, rs878853257, rs878853258, rs397514567, rs397514569, rs398123045, rs398123046, rs398123047, rs587777033, rs587777034
View all (45 more)
27896282, 23603762
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
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 3 GenCC
Hypertension Hypertension GWAS
Mental Depression Mental Depression GWAS
Insomnia Insomnia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 33797837
Ascites Associate 26937910
Bone Marrow Diseases Stimulate 34792179
Breast Neoplasms Associate 24950762, 35949045
Carcinogenesis Associate 26070867
Carcinoma Hepatocellular Associate 28901309
Carcinoma Non Small Cell Lung Associate 31858647, 34024242
Carcinoma Ovarian Epithelial Associate 26937910
Ciliopathies Associate 35478224
Colorectal Neoplasms Associate 26070867