Gene Gene information from NCBI Gene database.
Entrez ID 3796
Gene name Kinesin family member 2A
Gene symbol KIF2A
Synonyms (NCBI Gene)
CDCBM3HK2KIF2
Chromosome 5
Chromosome location 5q12.1
Summary 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.
5
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.
495
miRTarBase ID miRNA Experiments Reference
MIRT003853 hsa-miR-1-3p pSILAC 18668040
MIRT004016 hsa-miR-183-5p ImmunoblotImmunocytochemistryLuciferase reporter assayqRT-PCR 19940135
MIRT003853 hsa-miR-1-3p Luciferase reporter assayMicroarray 15685193
MIRT003853 hsa-miR-1-3p Proteomics 18668040
MIRT003853 hsa-miR-1-3p Proteomics;Microarray 18668037
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
47
GO ID Ontology Definition Evidence Reference
GO:0000070 Process Mitotic sister chromatid segregation IEA
GO:0000166 Function Nucleotide binding IEA
GO:0000226 Process Microtubule cytoskeleton organization IGI 26323690
GO:0000922 Component Spindle pole IDA 18411309
GO:0000922 Component Spindle pole IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602591 6318 ENSG00000068796
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
28
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
Abnormal cerebral morphology Likely pathogenic rs2111960756 RCV002275911
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Complex cortical dysplasia with other brain malformations 3 Likely pathogenic; Pathogenic rs1747667870, rs1554042050, rs1561273261, rs587777033, rs587777034, rs1580059038 RCV001333752
RCV000501043
RCV000708562
RCV000055623
RCV000055624
View all (1 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
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign ClinVar
★★☆☆☆
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
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 29427669
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 27272132
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 28616658
★☆☆☆☆
Found in Text Mining only
Agyria Agyria HPO_DG
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 33797837 Associate
★☆☆☆☆
Found in Text Mining only
Bardet-Biedl Syndrome Bardet-Biedl Syndrome BEFREE 27930654
★☆☆☆☆
Found in Text Mining only
Bone Marrow Diseases Bone marrow diseases Pubtator 34792179 Stimulate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 24950762, 29781531
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 24950762, 35949045 Associate
★☆☆☆☆
Found in Text Mining only
Cancer of Nasopharynx Nasopharyngeal Cancer BEFREE 12800201
★☆☆☆☆
Found in Text Mining only