KIF21A - kinesin family member 21A Gene

Also Known as FEOM1; CFEOM1; FEOM3A

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55605

About KIF21A

Cytogenetic location: 12q12 Genomic coordinates (GRCh38): 12:39,293,228-39,443,120 (from NCBI)

This gene has 14 transcripts (splice variants), 287 orthologues, 41 paralogues and is associated with 4 phenotypes. Broad expression in brain (RPKM 25.3), kidney (RPKM 9.6) and 22 other tissues.

Summary

This gene encodes a member of the KIF4 subfamily of kinesin-like motor proteins. The encoded protein is characterized by an N-terminal motor domain a coiled-coil stalk domain and a C-terminal WD-40 repeat domain. This protein may be involved in microtubule dependent transport. Mutations in this gene are the cause of congenital fibrosis of extraocular muscles-1. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]

KIF21A Products (7)

mRNA Protein Name
NM_001173463.2 NP_001166934.1 kinesin-like protein KIF21A isoform 3
NM_001173464.2 NP_001166935.1 kinesin-like protein KIF21A isoform 1
NM_001173465.2 NP_001166936.1 kinesin-like protein KIF21A isoform 4
NM_001378439.1 NP_001365368.1 kinesin-like protein KIF21A isoform 5
NM_001378440.1 NP_001365369.1 kinesin-like protein KIF21A isoform 6
NM_001378441.1 NP_001365370.1 kinesin-like protein KIF21A isoform 7
NM_017641.4 NP_060111.2 kinesin-like protein KIF21A isoform 2
Molecular Function GO Annotation Evidence Verweise Source
enables ankyrin repeat binding IPI
IPI: Inferred from physical interaction
29183992 GOA
enables plus-end-directed microtubule motor activity IDA
IDA: Inferred from direct assay
24120883 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
19020088 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in cortical microtubule organization IMP
IMP: Inferred from mutant phenotype
24120883 GOA
involved in regulation of axon guidance IMP
IMP: Inferred from mutant phenotype
24120883 GOA
involved in regulation of microtubule depolymerization IMP
IMP: Inferred from mutant phenotype
24120883 GOA
involved in regulation of microtubule polymerization IMP
IMP: Inferred from mutant phenotype
24120883 GOA
Cellular Component GO Annotation Evidence Verweise Source
located in axonal growth cone IDA
IDA: Inferred from direct assay
24120883 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

KIF21A Protein Structure

Kinesin

Kinesin: Kinesin motor domain (15 - 371)

WD40

WD40: WD domain, G-beta repeat (1338 - 1373)

WD40

WD40: WD domain, G-beta repeat (1485 - 1523)

WD40

WD40: WD domain, G-beta repeat (1578 - 1612)

WD40

WD40: WD domain, G-beta repeat (1618 - 1652)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1674 a.a.
Protein Preferred Names Protein Names

kinesin-like protein KIF21A

  • kinesin-like protein KIF2

KIF21A Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
KIF21A Q7Z4S6 ARFGEF1 Homo sapiens Q9Y6D6 19020088
Intra
KIF21A Q7Z4S6 ARFGEF1 Homo sapiens Q9Y6D6
GMS
19020088
Intra
KIF21A Q7Z4S6 ARFGEF1 Homo sapiens Q9Y6D6 22084092
Intra
KIF21A Q7Z4S6 KANK1 Homo sapiens Q14678 26496610
Intra
KIF21A Q7Z4S6 KANK1 Homo sapiens Q14678 19559006
Intra
KIF21A Q7Z4S6 KANK1 Homo sapiens Q14678 19559006
Intra
KIF21A Q7Z4S6 KANK1 Homo sapiens Q14678 22084092
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Fibrosis Of Extraocular Muscles, Congenital, 1
  • Fibrosis Of Extraocular Muscles, Congenital, 3b

  • CFEOM1

  • Blepharoptosis With Absent Eye Movements

  • Congenital Fibrosis Of The Extraocular Muscles 1

  • Congenital Fibrosis Of Extraocular Muscles Type 1

  • Fibrosis

  • Ophthalmoplegia, Congenital

  • Feom1 Locus

  • Congenital Ophthalmoplegia

  • Feom1

  • CFEOM3B

  • Fibrosis, Extraocular Muscles, Congenital, Type 1

  • Congenital Fibrosis Of The Extraocular Muscles

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

  • Cfeom

  • Feom

  • Congenital External Ophthalmoplegia

  • Congenital Fibrosis Syndrome

  • General Fibrosis Syndrome

Ocular Motility Disease
  • Ocular Motility Disorders

  • Abnormality Of Eye Movement

  • Disorder Of Eye Movements

  • Eye Movement Disorder

  • Eye Movement Disorders

Fibrosis Of Extraocular Muscles, Congenital, 2
  • CFEOM2

  • Feom2 Locus

  • Fibrosis Of Extraocular Muscles, Congenital, Autosomal Recessive

  • Congenital Fibrosis Of The Extraocular Muscles 2

  • Congenital Fibrosis Of Extraocular Muscles Autosomal Recessive

  • Exotropic Strabismus Fixus

  • Feom2

  • Fibrosis, Extraocular Muscles, Congenital, Type 2

Hypotropia
Paralytic Squint
  • Paralytic Strabismus

  • Incomitant Dissociation

Hypertropia
Tukel Syndrome
  • Cfeom-U

  • Congenital Fibrosis Of The Extraocular Muscles 4

  • Fibrosis Of Extraocular Muscles, Congenital, With Ulnar Hand Anomalies

  • Fibrosis Of Extraocular Muscles, Congenital, 4

  • Cfeom4

  • Congenital Extraocular Muscle Fibrosis With Ulnar Hand Anomalies

  • Congenital Fibrosis Of The Extraocular Muscles

Third Cranial Nerve Disease
  • Disorder Of Oculomotor Nerve

  • Oculomotor Nerve Disorder

  • Oculomotor Nerve Paralysis

  • Third Cranial Nerve Disorder

Myotonic Cataract
Microphthalmia, Isolated 5
  • Isolated Microphthalmia 5

  • MCOP5

  • Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen

  • Microphthalmia-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome

  • Posterior Microphthalmia With Retinitis Pigmentosa, Foveoschisis And Optic Disc Drusen

  • Nanophthalmos-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome

  • Microphthalmia, Isolated, 5

  • Microphthalmia Mfrp-Related

  • Posterior Microphthalmia With Retinitis Pigmentosa, Foveoschisis And Optic Disk Drusen

  • Microphthalmia, Isolated, Type 5

Exotropia
  • Divergent Concomitant Strabismus

  • Divergent Strabismus

  • Divergent Squint

  • External Strabismus

  • Xt - [Exotropia]

Congenital Ptosis
  • Congenital Blepharoptosis

  • Congenital Eyelid Ptosis

Ptosis
  • Blepharoptosis

  • Drooping Eyelid

  • Droopy Eyelid

  • Ptosis Of Eyelid

  • Paralysis Of Levator Palpebrae Superioris

Strabismus
  • Strabismus, Susceptibility To

  • Strabismus, Susceptibility To, 1

  • Strabismus 1

Marcus Gunn Phenomenon
  • Jaw-Winking Syndrome

  • Marcus-Gunn Syndrome

  • Jaw-Winking

  • Maxillopalpebral Synkinesis

  • Abnormal Innervation Syndrome Of Eyelid

  • Jaw-Blinking

  • Pterygoid-Levator Synkinesis

  • Familial Marcus Gunn Phenomenon

  • Marcus Gunn Syndrome

  • Mandibulo-Palpebral Synkinesis-Ptosis Syndrome

  • Marcus-Gunn Phenomenon

Kearns-Sayre Syndrome
  • Ophthalmoplegia

  • Mitochondrial Cytopathy

  • KSS

  • Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy

  • Oculocraniosomatic Syndrome

  • Chronic Progressive External Ophthalmoplegia With Myopathy

  • Cpeo With Myopathy

  • Total Ophthalmoplegia

  • Ophthalmoplegia-Plus Syndrome

  • Ophthalmoplegia, Progressive External, With Ragged-Red Fibers

  • Cpeo With Ragged-Red Fibers

  • Oculomotor Paralysis

  • Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O

  • Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna

  • Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia

  • Cpeo With Ragged Red Fibers

  • Ophthalmoplegia Plus Syndrome

  • Ophthalmoplegia, Progressive External, With Ragged Red Fibers

  • Kearns-Sayre Mitochondrial Cytopathy

  • Mitochondrial Myopathies

Partial Third-Nerve Palsy
  • Partial Third Nerve Palsy

  • Third Nerve Palsy With Pupil Sparing

  • Third Or Oculomotor Nerve Palsy, Partial

  • Oculomotor Nerve Diseases

  • Oculomotor Nerve Paralysis

Cranial Nerve Disease
  • Cranial Nerve Disorder

  • Disorder Of Cranial Nerve

  • Cranial Nerve Diseases

Abnormal Retinal Correspondence
Duane Retraction Syndrome
  • Stilling-Turk-Duane Syndrome

  • Duane'S Syndrome

  • Duane Syndrome

  • Isolated Duane Retraction Syndrome

  • Co-Contractive Retraction Syndrome

  • Duane Anomaly, Isolated

  • Ocular Retraction Syndrome

  • Drs

  • Durs

Duane-Radial Ray Syndrome
  • Okihiro Syndrome

  • DRRS

  • Dr Syndrome

  • Duane Anomaly With Radial Ray Abnormalities And Deafness

  • Acrorenoocular Syndrome

  • Acrorenocular Syndrome

  • Duane Anomaly With Radial Abnormalities And Deafness

  • Acro-Renal-Ocular Syndrome

Moebius Syndrome
  • Mobius Syndrome

  • Moebius Sequence

  • Oromandibular-Limb Hypogenesis Spectrum

  • Congenital Facial Diplegia

  • MBS

  • Moebius Congenital Oculofacial Paralysis

  • Absence Or Underdevelopment Of The 6th And 7th Cranial Nerves

  • Congenital Facial Diplegia Syndrome

  • Congenital Oculofacial Paralysis

  • Congenital Ophthalmoplegia And Facial Paresis

  • Moebius Spectrum

  • Möbius Sequence

  • Möbius Syndrome

  • Mobius Ii Syndrome

Esotropia
  • Convergence In Manifest Squint

  • Crossed Eyes

  • Internal Strabismus

  • Convergent Concomitant Strabismus

  • Convergent Squint

  • Convergent Strabismus

  • Cross-Eye

Fourth Cranial Nerve Palsy
  • Fourth Nerve Palsy

  • Fourth Cranial Nerve Paresis

  • Fourth Or Trochlear Nerve Palsy

  • 4th Nerve Palsy

  • Fourth Cranial Nerve Paralysis

  • Superior Oblique Palsy

  • Trochlear Nerve Palsy

  • Trochlear Nerve Paralysis

  • Trochlear Nerve Weakness

  • Isolated Trochlear Nerve Palsy

  • Atrophy Of Fourth Cranial Nerve

  • Atrophy Of Trochlear Nerve

Rippling Muscle Disease 2
  • Rippling Muscle Disease

  • Rmd

  • Lgmd1c

  • RMD2

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c

  • Muscular Dystrophy, Limb-Girdle, Type 1c

  • Muscular Dystrophy, Limb-Girdle, Type 1c, Formerly

  • Lgmd1c, Formerly

  • Limb-Girdle Muscular Dystrophy Type 1c

  • Limb-Girdle Muscular Dystrophy Due To Caveolin-3 Deficiency

  • Muscular Dystrophy, Limb-Girdle, Type Ic

  • Rippling Muscle Syndrome

  • Limb-Girdle Muscular Dystrophy 1c

  • Dystrophy, Muscular, Limb-Girdle, Type 1c

  • Disease, Muscle, Rippling, Type 2

  • Rippling Muscle Disease 1

Optic Nerve Hypoplasia, Bilateral
  • Optic Nerve Hypoplasia

  • Bilateral Optic Nerve Hypoplasia

  • Optic Nerve Hypoplasia, Familial Bilateral

  • Familial Bilateral Optic Nerve Hypoplasia

  • Isolated Optic Nerve Hypoplasia/Aplasia

  • Optic Nerve Aplasia, Bilateral

  • Onh

  • BONH

  • Bilateral Optic Nerve Aplasia

  • Hypoplasia, Optic Nerve, Bilateral

Amblyopia
  • Lazy Eye

Keratitis, Hereditary
  • Keratitis

  • Autosomal Dominant Keratitis

  • Hereditary Keratitis

  • Dominantly Inherited Keratitis

  • Keratitis Hereditary

  • KERH

Refractive Error
  • Refractive Errors

Facial Nerve Disease
  • Facial Nerve Disorder

  • Facial Nerve Diseases

  • Neuropathy Of Facial Nerve

  • Disorders Of 7th Cranial Nerve

  • Disorders Of The Seventh Cranial Nerve

Distal Arthrogryposis
  • Arthrogryposis Multiplex Congenita

  • Arthrogryposis

  • Congenital Multiple Arthrogryposis

  • Congenital Arthromyodysplasia

  • Fibrous Ankylosis Of Multiple Joints

  • Guerin-Stern Syndrome

  • Guérin-Stern Syndrome

  • Myodystrophia Fetalis Deformans

  • Otto Syndrome

  • Rocher-Sheldon Syndrome

  • Rossi Syndrome

  • Amc

  • Multiple Congenital Arthrogryposis

  • Arthrogryposis Syndrome

  • Arthrogryposis, Distal

  • Distal Arthrogryposis Syndrome

  • Freeman-Sheldon Syndrome

  • Arthrogryposis, Distal, Type 2b

  • Congenital Multiplex Arthrogryposis

  • Amyoplasia Congenita

  • Congenital Amyoplasia

  • Amc - [Arthrogryposis Multiplex Congenita]

Peripheral Nervous System Disease
  • Peripheral Neuropathy

  • Peripheral Nerve Disease

  • Peripheral Nerve Disorders

  • Neuropathy, Peripheral

  • Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

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
Mus musculus KIF21A MGD MGI:109188
Canis familiaris KIF21A VGNC VGNC:42396
Bos taurus KIF21A VGNC VGNC:30595
Rattus norvegicus KIF21A RGD RGD:1305126
Macaca mulatta KIF21A VGNC VGNC:73861
Felis catus KIF21A VGNC VGNC:63112
Others KIF21A NCBI