KIF2A - kinesin family member 2A Gene

Also Known as HK2; KIF2; CDCBM3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3796

About KIF2A

Cytogenetic location: 5q12.1 Genomic coordinates (GRCh38): 5:62,306,206-62,391,025 (from NCBI)

This gene has 21 transcripts (splice variants), 290 orthologues, 41 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 17.8), brain (RPKM 16.2) and 24 other tissues.

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

KIF2A Products (4)

mRNA Protein Name
NM_001098511.3 NP_001091981.1 kinesin-like protein KIF2A isoform 2
NM_001243952.2 NP_001230881.2 kinesin-like protein KIF2A isoform 3
NM_001243953.2 NP_001230882.1 kinesin-like protein KIF2A isoform 4
NM_004520.5 NP_004511.2 kinesin-like protein KIF2A isoform 1
Molecular Function GO Annotation Evidence References Source
enables microtubule binding IDA
IDA: Inferred from direct assay
26323690 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
18411309 GOA
Biological Process GO Annotation Evidence References Source
involved in microtubule cytoskeleton organization IGI
IGI: Inferred from genetic interaction
26323690 GOA
involved in mitotic spindle assembly IMP
IMP: Inferred from mutant phenotype
15843429 GOA
involved in mitotic spindle organization IDA
IDA: Inferred from direct assay
18411309 GOA
involved in regulation of cell migration IGI
IGI: Inferred from genetic interaction
26323690 GOA
Cellular Component GO Annotation Evidence References Source
part of centriolar subdistal appendage IDA
IDA: Inferred from direct assay
23213374 GOA
located in centriole IDA
IDA: Inferred from direct assay
23213374 GOA
located in centrosome IDA
IDA: Inferred from direct assay
21399614 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
26323690 GOA
colocalizes with microtubule IDA
IDA: Inferred from direct assay
26323690 GOA
colocalizes with spindle microtubule IDA
IDA: Inferred from direct assay
18411309 GOA
colocalizes with spindle pole IDA
IDA: Inferred from direct assay
18411309 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KIF2A Protein Structure

Kinesin

Kinesin: Kinesin motor domain (229 - 552)

  • 0
  • 200
  • 400
  • 600
  • 706 a.a.
Protein Preferred Names Protein Names

kinesin-like protein KIF2A

  • Kinesin, heavy chain, 2

KIF2A Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
KIF2A O00139 CEP170 Homo sapiens Q5SW79 26496610
Intra
KIF2A O00139 MRPL53 Homo sapiens Q96EL3 25416956
Intra
KIF2A O00139 LARP1B Homo sapiens Q659C4 25416956
Intra
KIF2A O00139 FAM13C Homo sapiens Q8NE31 31515488
Intra
KIF2A O00139 FAM13C Homo sapiens Q8NE31 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Cortical Dysplasia, Complex, With Other Brain Malformations 3
  • Complex Cortical Dysplasia With Other Brain Malformations 3

  • CDCBM3

  • Dysplasia ,Cortical, Complex, With Other Brain Malformations, Type 3

Band Heterotopia
  • Subcortical Band Heterotopia

  • Double Cortex Syndrome

  • Subcortical Laminar Heterotopia

  • Double Cortex

  • Band Heterotopia Of Brain

  • BH

  • Heco

  • Heterotopic Cortex

  • Familial Band Heterotopia

  • Dc

  • Dc Syndrome

  • Heterotopia, Subcortical Band

  • Sbh

  • Sclh

  • Bhy

Complex Cortical Dysplasia With Other Brain Malformations
  • Cdcbm

  • Dysplasia, Cortical, Complex, With Other Brain Malformations

  • Dysplasia ,Cortical, Complex, With Other Brain Malformations

Bardet-Biedl Syndrome 8
  • BBS8

  • Bardet-Biedl Syndrome, Type 8

Tubulinopathy
  • Tubulinopathies

Spinal Muscular Atrophy With Lower Extremity Predominant
  • Spinal Muscular Atrophy With Lower Extremity Predominance

  • Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy With Contractures

  • Kugelberg-Welander Syndrome, Autosomal Dominant

  • Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy With Contractures

  • Sma-Led

  • Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant

  • Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant

  • Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

  • Spinal Muscular Atrophy, Lower Extremity, Dominant

Congenital Fibrosis Of The Extraocular Muscles
  • Congenital Fibrosis Of Extraocular Muscles

  • Cfeom

  • Feom

  • Congenital External Ophthalmoplegia

  • Congenital Fibrosis Syndrome

  • General Fibrosis Syndrome

Microcephaly
  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly

Primary Microcephaly
  • True Microcephaly

  • Microcephaly, Primary

Mosaic Variegated Aneuploidy Syndrome
  • Warburton-Anyane-Yeboa Syndrome

  • Mva Syndrome

  • Mosaic Variegated Aneuplody Microcephaly Syndrome

  • Warburton Anyane Yeboa Syndrome

Primary Autosomal Recessive Microcephaly
  • Autosomal Recessive Primary Microcephaly

  • Mcph

  • True Microcephaly

  • Microcephalia Vera

  • Microcephaly Vera

  • Microcephaly Primary Hereditary

  • Microcephaly, Primary, Autosomal Recessive

  • Primary Microcephaly

Periventricular Nodular Heterotopia
  • Periventricular Heterotopia

  • Pvnh

  • Familial Nodular Heterotopia

  • Heterotopia, Periventricular

  • Periventricular Heterotopia, X-Linked

Walker-Warburg Syndrome
  • Hard Syndrome

  • Walker-Warburg Congenital Muscular Dystrophy

  • Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

  • Cod-Md Syndrome

  • Chemke Syndrome

  • Hydrocephalus, Agyria And Retinal Dysplasia

  • Cerebroocular Dysgenesis

  • Cerebroocular Dysplasia Muscular Dystrophy Syndrome

  • Hard +/- E Syndrome

  • Pagon Syndrome

  • Warburg Syndrome

  • Hydrocephalus, Agyria, And Retinal Dysplasia

  • Mddga

  • Muscular Dystrophy-Dystroglycanopathy , Type A

  • Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A

  • Hydrocephalus-Agyria-Retinal Dysplasia Syndrome

  • Wws

  • Dystrophy, Muscular, Dystroglycanopathy, Type A

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta KIF2A VGNC VGNC:74016
Canis familiaris KIF2A VGNC VGNC:42402
Bos taurus KIF2A VGNC VGNC:30599
Mus musculus KIF2A MGD MGI:108390
Rattus norvegicus KIF2A RGD RGD:70974
Felis catus KIF2A VGNC VGNC:67940
Others KIF2A NCBI