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  2. KIF2A - kinesin family member 2A Gene

KIF2A - kinesin family member 2A Gene

Homo sapiens

Also known as HK2; KIF2; CDCBM3

Gene ID: 3796 | Gene type: protein coding

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

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

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