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 encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] See more...

Aliases for KIF2A Gene

Aliases for KIF2A Gene

  • Kinesin Family Member 2A 2 3 5
  • Kinesin-Like Protein KIF2A 3 4
  • Kinesin-2 3 4
  • KIF2 3 4
  • HK2 3 4
  • Kinesin Heavy Chain Member 2A 3
  • Kinesin Heavy Chain Member 2 2
  • Kinesin, Heavy Chain, 2 3
  • CDCBM3 3
  • KNS2 4

External Ids for KIF2A Gene

Previous HGNC Symbols for KIF2A Gene

  • KIF2

Previous GeneCards Identifiers for KIF2A Gene

  • GC05P061638
  • GC05P058558
  • GC05P061601

Summaries for KIF2A Gene

Entrez Gene Summary for KIF2A 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 encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

GeneCards Summary for KIF2A Gene

KIF2A (Kinesin Family Member 2A) is a Protein Coding gene. Diseases associated with KIF2A include Cortical Dysplasia, Complex, With Other Brain Malformations 3 and Band Heterotopia. Among its related pathways are Mitotic Metaphase and Anaphase and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include ATPase activity and microtubule motor activity. An important paralog of this gene is KIF2C.

UniProtKB/Swiss-Prot Summary for KIF2A Gene

  • 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 metaphase plate. Required for normal spindle dynamics during mitosis. Promotes spindle turnover. Implicated in formation of bipolar mitotic spindles. Has microtubule depolymerization activity.

Gene Wiki entry for KIF2A Gene

Additional gene information for KIF2A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KIF2A Gene

Genomics for KIF2A Gene

GeneHancer (GH) Regulatory Elements for KIF2A Gene

Promoters and enhancers for KIF2A 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
GH05J062304 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 505.3 +0.7 656 3.9 HNRNPK ZBTB40 ZNF217 EP300 SIN3A NRF1 TCF12 MYC POLR2G USF1 KIF2A ENSG00000250461 DIMT1 LOC100421358
GH05J062255 Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas 18 -47.5 -47504 7.7 PHB2 ZIC2 ZNF263 ZBTB11 AFF1 REST RELA HES1 MYC RUNX1 KIF2A DIMT1 piR-34073-003 piR-48222-282
GH05J062402 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 10.3 +97.4 97439 3.2 ZNF217 SIN3A TCF12 MYC USF1 POLR2G SP1 GTF2E2 PHF8 SIX5 DIMT1 IPO11 LRRC70 ENSG00000240436 RNU6-661P KIF2A lnc-SMIM15-9 RF00017-4646
GH05J062282 Enhancer 1.1 Ensembl ENCODE 18 -21.1 -21062 6.6 AFF1 MEF2C TOE1 TRIM22 TAF9B MEF2A BCL11A NCOR1 NFRKB RELA KIF2A DIMT1 piR-48222-282 piR-34073-003
GH05J062230 Enhancer 0.9 Ensembl ENCODE 19 -73.7 -73662 4.6 ZNF184 CEBPG SRF MEF2B FOS FOSL1 JUND NR2F1 DPF2 KLF17 piR-48890-002 KIF2A piR-46994-003
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KIF2A on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KIF2A

Top Transcription factor binding sites by QIAGEN in the KIF2A gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • Cdc5
  • CUTL1
  • FOXJ2
  • FOXJ2 (long isoform)
  • ISGF-3

Genomic Locations for KIF2A Gene

Genomic Locations for KIF2A Gene
chr5:62,306,162-62,537,249
(GRCh38/hg38)
Size:
231,088 bases
Orientation:
Plus strand
chr5:61,601,989-61,833,076
(GRCh37/hg19)
Size:
231,088 bases
Orientation:
Plus strand

Genomic View for KIF2A Gene

Genes around KIF2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIF2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIF2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIF2A Gene

Proteins for KIF2A Gene

  • Protein details for KIF2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00139-KIF2A_HUMAN
    Recommended name:
    Kinesin-like protein KIF2A
    Protein Accession:
    O00139
    Secondary Accessions:
    • A5YM42
    • A5YM54
    • B4DY54
    • D3DW97
    • E9PB70
    • Q7Z5I3
    • Q8N5Q7

    Protein attributes for KIF2A Gene

    Size:
    706 amino acids
    Molecular mass:
    79955 Da
    Quaternary structure:
    • Interacts with AURKA, PSRC1 and PLK1.
    Miscellaneous:
    • HeLa cells lacking KIF2A show asymmetric or monopolar mitotic spindles. Osteosarcoma cells (U2OS) lacking KIF2A or KIF2B show disorganised or monopolar mitotic spindles.
    SequenceCaution:
    • Sequence=AAP84320.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KIF2A Gene

    Alternative splice isoforms for KIF2A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIF2A Gene

Post-translational modifications for KIF2A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KIF2A Gene

Domains & Families for KIF2A Gene

Gene Families for KIF2A Gene

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

Protein Domains for KIF2A Gene

Suggested Antigen Peptide Sequences for KIF2A Gene

GenScript: Design optimal peptide antigens:
  • Kinesin-2 (KIF2A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00139

UniProtKB/Swiss-Prot:

KIF2A_HUMAN :
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. MCAK/KIF2 subfamily.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. MCAK/KIF2 subfamily.
genes like me logo Genes that share domains with KIF2A: view

Function for KIF2A Gene

Molecular function for KIF2A Gene

UniProtKB/Swiss-Prot 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 metaphase plate. Required for normal spindle dynamics during mitosis. Promotes spindle turnover. Implicated in formation of bipolar mitotic spindles. Has microtubule depolymerization activity.

Phenotypes From GWAS Catalog for KIF2A Gene

Gene Ontology (GO) - Molecular Function for KIF2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity TAS 9177777
GO:0003777 microtubule motor activity IBA,IEA 21873635
GO:0005515 protein binding IPI 18411309
GO:0005524 ATP binding IEA --
GO:0008017 microtubule binding IDA 26323690
genes like me logo Genes that share ontologies with KIF2A: view
genes like me logo Genes that share phenotypes with KIF2A: view

Human Phenotype Ontology for KIF2A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KIF2A Gene

MGI Knock Outs for KIF2A:

Animal Model Products

  • Taconic Biosciences Mouse Models for KIF2A

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIF2A

Clone Products

  • Addgene plasmids for KIF2A

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KIF2A Gene

Localization for KIF2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIF2A Gene

Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle pole. Cytoplasm, cytoskeleton, spindle. Note=Localized to the spindle microtubules and spindle poles from prophase to metaphase. Efficient targeting to spindle microtubules and spindle poles requires the kinase activity of PLK1. Recruited to mitotic spindles by interaction with PSRC1.

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 KIF2A gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (4)
  • Nucleoli (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KIF2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 colocalizes_with spindle pole IDA,IEA 18411309
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IDA,IEA 26323690
genes like me logo Genes that share ontologies with KIF2A: view

Pathways & Interactions for KIF2A Gene

genes like me logo Genes that share pathways with KIF2A: view

Pathways by source for KIF2A Gene

1 Qiagen pathway for KIF2A Gene
  • Reelin Pathway (Cajal-Retzius cells)

Gene Ontology (GO) - Biological Process for KIF2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IGI 26323690
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER TAS --
GO:0007018 microtubule-based movement IEA,TAS --
GO:0007019 microtubule depolymerization TAS 26323690
GO:0007049 cell cycle IEA --
genes like me logo Genes that share ontologies with KIF2A: view

No data available for SIGNOR curated interactions for KIF2A Gene

Drugs & Compounds for KIF2A Gene

No Compound Related Data Available

Transcripts for KIF2A Gene

mRNA/cDNA for KIF2A Gene

4 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIF2A

Clone Products

  • Addgene plasmids for KIF2A

Alternative Splicing Database (ASD) splice patterns (SP) for KIF2A Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^
SP1: - -
SP2: -
SP3: -
SP4: - -
SP5: - - - - - - - - - -
SP6:

ExUns: 20a · 20b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for KIF2A Gene

GeneLoc Exon Structure for
KIF2A

Expression for KIF2A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KIF2A Gene

Protein differential expression in normal tissues from HIPED for KIF2A Gene

This gene is overexpressed in Peripheral blood mononuclear cells (20.0), Breast (14.7), and Platelet (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KIF2A Gene



Protein tissue co-expression partners for KIF2A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KIF2A

SOURCE GeneReport for Unigene cluster for KIF2A Gene:

Hs.558351

Evidence on tissue expression from TISSUES for KIF2A Gene

  • Nervous system(4.9)
  • Lymph node(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KIF2A Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • head
  • skull
Limb:
  • lower limb
  • upper limb
General:
  • spinal cord
genes like me logo Genes that share expression patterns with KIF2A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for KIF2A Gene

Orthologs for KIF2A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for KIF2A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIF2A 31 30
  • 99.48 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KIF2A 31
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIF2A 31 30
  • 96.82 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KIF2A 31 30
  • 95.25 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Kif2a 17 31 30
  • 92.06 (n)
rat
(Rattus norvegicus)
Mammalia Kif2a 30
  • 91.73 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KIF2A 31
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIF2A 31 30
  • 87.58 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIF2A 31
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kif2a 30
  • 82.46 (n)
Str.20433 30
African clawed frog
(Xenopus laevis)
Amphibia kif2-A-prov 30
zebrafish
(Danio rerio)
Actinopterygii KIF2A 31
  • 85 (a)
OneToOne
zgc:103670 30
  • 74.1 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000159 30
  • 52.5 (n)
fruit fly
(Drosophila melanogaster)
Insecta Klp10A 31 30
  • 50.55 (n)
ManyToMany
Klp59C 31
  • 46 (a)
ManyToMany
Klp59D 31
  • 43 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea klp-7 31
  • 41 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os.16303 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 53 (a)
OneToMany
Species where no ortholog for KIF2A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 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 KIF2A Gene

ENSEMBL:
Gene Tree for KIF2A (if available)
TreeFam:
Gene Tree for KIF2A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KIF2A: view image

Paralogs for KIF2A Gene

(7) SIMAP similar genes for KIF2A Gene using alignment to 4 proteins:

  • KIF2A_HUMAN
  • D6R9M0_HUMAN
  • D6RD93_HUMAN
  • H0Y8H2_HUMAN

Pseudogenes.org Pseudogenes for KIF2A Gene

genes like me logo Genes that share paralogs with KIF2A: view

Variants for KIF2A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KIF2A Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
668920 Benign: not provided 62,362,821(+) T/A INTRON_VARIANT
669990 Benign: not provided 62,357,417(+) C/G INTRON_VARIANT
672373 Benign: not provided 62,306,741(+) G/C INTRON_VARIANT
672374 Benign: not provided 62,347,834(+) G/A INTRON_VARIANT
672375 Benign: not provided 62,352,791(+) G/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for KIF2A Gene

Structural Variations from Database of Genomic Variants (DGV) for KIF2A Gene

Variant ID Type Subtype PubMed ID
dgv5689n100 CNV gain 25217958
dgv5690n100 CNV gain 25217958
esv2759345 CNV gain+loss 17122850
esv35035 CNV gain 17911159
esv3570170 CNV loss 25503493
esv3605230 CNV gain 21293372
esv3605231 CNV gain 21293372
esv3605233 CNV gain 21293372
esv3894198 CNV gain 25118596
nsv1137000 CNV deletion 24896259
nsv1144107 CNV deletion 24896259
nsv598348 CNV gain 21841781
nsv830318 CNV gain 17160897
nsv950071 CNV duplication 24416366

Variation tolerance for KIF2A Gene

Residual Variation Intolerance Score: 25.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.05; 50.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KIF2A Gene

Human Gene Mutation Database (HGMD)
KIF2A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIF2A

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIF2A Gene

Disorders for KIF2A Gene

MalaCards: The human disease database

(4) MalaCards diseases for KIF2A Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cortical dysplasia, complex, with other brain malformations 3
  • cdcbm3
band heterotopia
  • bh
microcephaly
  • microcephalus
walker-warburg syndrome
  • hydrocephalus, agyria, and retinal dysplasia
- elite association - COSMIC cancer census association via MalaCards
Search KIF2A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KIF2A_HUMAN
  • Cortical dysplasia, complex, with other brain malformations 3 (CDCBM3) [MIM:615411]: A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include early-onset epilepsy, and various malformations of cortical development such as agyria, posterior or frontal pachygyria, subcortical band heterotopia, and thin corpus callosum. {ECO:0000269 PubMed:23603762}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for KIF2A

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 KIF2A: view

No data available for Genatlas for KIF2A Gene

Publications for KIF2A Gene

  1. Identification of a novel human kinesin-related gene (HK2) by the cDNA differential display technique. (PMID: 9177777) Debernardi S … Delia D (Genomics 1997) 2 3 4 23 54
  2. A family-based association study of kinesin heavy chain member 2 gene (KIF2) and schizophrenia. (PMID: 16959419) Li C … He L (Neuroscience letters 2006) 3 23 41 54
  3. Plk1 and Aurora A regulate the depolymerase activity and the cellular localization of Kif2a. (PMID: 19351716) Jang CY … Fang G (Journal of cell science 2009) 3 4 54
  4. DDA3 recruits microtubule depolymerase Kif2a to spindle poles and controls spindle dynamics and mitotic chromosome movement. (PMID: 18411309) Jang CY … Fang G (The Journal of cell biology 2008) 3 4 54
  5. The kinesin-13 proteins Kif2a, Kif2b, and Kif2c/MCAK have distinct roles during mitosis in human cells. (PMID: 17538014) Manning AL … Compton DA (Molecular biology of the cell 2007) 3 4 54

Products for KIF2A Gene

Sources for KIF2A Gene