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Aliases for KIF21A Gene

Aliases for KIF21A Gene

  • Kinesin Family Member 21A 2 3 5
  • Renal Carcinoma Antigen NY-REN-62 3 4
  • Kinesin-Like Protein KIF2 3 4
  • Fibrosis Of The Extraocular Muscles, Congenital, 1 2
  • KIAA1708 4
  • CFEOM1 3
  • FEOM3A 3
  • FEOM1 3
  • KIF2 4

External Ids for KIF21A Gene

Previous HGNC Symbols for KIF21A Gene

  • FEOM1

Previous GeneCards Identifiers for KIF21A Gene

  • GC12U990160
  • GC12M039586
  • GC12M039404
  • GC12M037973
  • GC12M039687
  • GC12M036712

Summaries for KIF21A Gene

Entrez Gene Summary for KIF21A Gene

  • 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]

GeneCards Summary for KIF21A Gene

KIF21A (Kinesin Family Member 21A) is a Protein Coding gene. Diseases associated with KIF21A include Fibrosis Of Extraocular Muscles, Congenital, 1 and Congenital Fibrosis Of The Extraocular Muscles. Among its related pathways are Golgi-to-ER retrograde transport and Platelet activation, signaling and aggregation. GO annotations related to this gene include binding and microtubule binding. An important paralog of this gene is KIF5C.

UniProtKB/Swiss-Prot for KIF21A Gene

  • Microtubule-binding motor protein probably involved in neuronal axonal transport. In vitro, has a plus-end directed motor activity (By similarity).

Gene Wiki entry for KIF21A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIF21A Gene

Genomics for KIF21A Gene

Regulatory Elements for KIF21A Gene

Enhancers for KIF21A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KIF21A on UCSC Golden Path with GeneCards custom track

Promoters for KIF21A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KIF21A on UCSC Golden Path with GeneCards custom track

Genomic Location for KIF21A Gene

Chromosome:
12
Start:
39,293,228 bp from pter
End:
39,443,390 bp from pter
Size:
150,163 bases
Orientation:
Minus strand

Genomic View for KIF21A Gene

Genes around KIF21A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIF21A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIF21A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIF21A Gene

Proteins for KIF21A Gene

  • Protein details for KIF21A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z4S6-KI21A_HUMAN
    Recommended name:
    Kinesin-like protein KIF21A
    Protein Accession:
    Q7Z4S6
    Secondary Accessions:
    • A8MX28
    • B0I1R9
    • B9EGE4
    • F5H0C3
    • F5H219
    • Q2UVF1
    • Q6UKL9
    • Q7Z668
    • Q86WZ5
    • Q8IVZ8
    • Q9C0F5
    • Q9NXU4
    • Q9Y590

    Protein attributes for KIF21A Gene

    Size:
    1674 amino acids
    Molecular mass:
    187179 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAD42883.1; Type=Frameshift; Positions=185, 191, 380, 405; Evidence={ECO:0000305}; Sequence=AAH41430.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAP97680.1; Type=Frameshift; Positions=185, 191; Evidence={ECO:0000305}; Sequence=BAA90916.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for KIF21A Gene

neXtProt entry for KIF21A Gene

Proteomics data for KIF21A Gene at MOPED

Post-translational modifications for KIF21A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for KIF21A Gene

Domains & Families for KIF21A Gene

Gene Families for KIF21A Gene

Suggested Antigen Peptide Sequences for KIF21A Gene

Graphical View of Domain Structure for InterPro Entry

Q7Z4S6

UniProtKB/Swiss-Prot:

KI21A_HUMAN :
  • Contains 1 kinesin motor domain.
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.
  • Contains 7 WD repeats.
Domain:
  • Contains 1 kinesin motor domain.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.
Similarity:
  • Contains 7 WD repeats.
genes like me logo Genes that share domains with KIF21A: view

Function for KIF21A Gene

Molecular function for KIF21A Gene

UniProtKB/Swiss-Prot Function:
Microtubule-binding motor protein probably involved in neuronal axonal transport. In vitro, has a plus-end directed motor activity (By similarity).

Gene Ontology (GO) - Molecular Function for KIF21A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 19020088
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity IBA --
genes like me logo Genes that share ontologies with KIF21A: view
genes like me logo Genes that share phenotypes with KIF21A: view

Human Phenotype Ontology for KIF21A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for KIF21A Gene

Localization for KIF21A Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIF21A Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KIF21A Gene COMPARTMENTS Subcellular localization image for KIF21A gene
Compartment Confidence
cytoskeleton 4
cytosol 3
nucleus 2

No data available for Gene Ontology (GO) - Cellular Components for KIF21A Gene

Pathways & Interactions for KIF21A Gene

genes like me logo Genes that share pathways with KIF21A: view

Gene Ontology (GO) - Biological Process for KIF21A Gene

None

No data available for SIGNOR curated interactions for KIF21A Gene

Drugs & Compounds for KIF21A Gene

No Compound Related Data Available

Transcripts for KIF21A Gene

Unigene Clusters for KIF21A Gene

Kinesin family member 21A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KIF21A Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^
SP1: - - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

ExUns: 18 ^ 19a · 19b ^ 20 ^ 21a · 21b ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29a · 29b ^ 30a · 30b ^ 31 ^ 32a · 32b ^ 33 ^ 34a · 34b ·
SP1:
SP2:
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13: - -
SP14: -
SP15:
SP16:

ExUns: 34c ^ 35 ^ 36 ^ 37 ^ 38
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for KIF21A Gene

GeneLoc Exon Structure for
KIF21A
ECgene alternative splicing isoforms for
KIF21A

Expression for KIF21A Gene

mRNA expression in normal human tissues for KIF21A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KIF21A Gene

This gene is overexpressed in Brain (24.3), Frontal cortex (12.2), and Spinal cord (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for KIF21A Gene



SOURCE GeneReport for Unigene cluster for KIF21A Gene Hs.374201

genes like me logo Genes that share expression patterns with KIF21A: view

Protein tissue co-expression partners for KIF21A Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for KIF21A Gene

Orthologs for KIF21A Gene

This gene was present in the common ancestor of animals.

Orthologs for KIF21A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KIF21A 35
  • 93.26 (n)
  • 95.7 (a)
KIF21A 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIF21A 35
  • 93.98 (n)
  • 96.63 (a)
KIF21A 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kif21a 35
  • 86.42 (n)
  • 93.48 (a)
Kif21a 16
Kif21a 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KIF21A 35
  • 99.55 (n)
  • 99.64 (a)
rat
(Rattus norvegicus)
Mammalia Kif21a 35
  • 85.25 (n)
  • 91.44 (a)
oppossum
(Monodelphis domestica)
Mammalia KIF21A 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIF21A 36
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIF21A 35
  • 81.03 (n)
  • 86.86 (a)
KIF21A 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIF21A 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kif21a 35
  • 75.94 (n)
  • 80 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.10601 35
zebrafish
(Danio rerio)
Actinopterygii kif21a 35
  • 66.05 (n)
  • 72.36 (a)
kif21a 36
  • 69 (a)
OneToMany
KIF21A (1 of 2) 36
  • 79 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007815 35
  • 52.33 (n)
  • 49.42 (a)
fruit fly
(Drosophila melanogaster)
Insecta Klp31E 35
  • 52.08 (n)
  • 48.64 (a)
Klp31E 36
  • 43 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea klp-12 35
  • 45.53 (n)
  • 35.1 (a)
klp-12 36
  • 36 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7972 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2958 36
  • 43 (a)
OneToMany
Species with no ortholog for KIF21A:
  • 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 (Oryza sativa)
  • 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 KIF21A Gene

ENSEMBL:
Gene Tree for KIF21A (if available)
TreeFam:
Gene Tree for KIF21A (if available)

Paralogs for KIF21A Gene

genes like me logo Genes that share paralogs with KIF21A: view

Variants for KIF21A Gene

Sequence variations from dbSNP and Humsavar for KIF21A Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
VAR_019399 Fibrosis of extraocular muscles, congenital, 1 (CFEOM1)
VAR_019400 Fibrosis of extraocular muscles, congenital, 1 (CFEOM1)
VAR_019401 Fibrosis of extraocular muscles, congenital, 1 (CFEOM1)
VAR_019402 Fibrosis of extraocular muscles, congenital, 1 (CFEOM1)
VAR_019403 Fibrosis of extraocular muscles, congenital, 1 (CFEOM1)

Structural Variations from Database of Genomic Variants (DGV) for KIF21A Gene

Variant ID Type Subtype PubMed ID
nsv899013 CNV Gain 21882294
dgv21n68 CNV Gain 17160897
nsv470286 CNV Gain 18288195
esv2494882 CNV Deletion 19546169
nsv680 CNV Insertion 18451855
esv6322 CNV Gain 19470904

Variation tolerance for KIF21A Gene

Residual Variation Intolerance Score: 6.53% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.13; 69.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KIF21A Gene

Human Gene Mutation Database (HGMD)
KIF21A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIF21A Gene

Disorders for KIF21A Gene

MalaCards: The human disease database

(15) MalaCards diseases for KIF21A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

KI21A_HUMAN
  • Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700]: A congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Patients affected by congenital fibrosis of extraocular muscles type 1 show an absence of the superior division of the oculomotor nerve (cranial nerve III) and corresponding oculomotor subnuclei. {ECO:0000269 PubMed:14595441, ECO:0000269 PubMed:16157808, ECO:0000269 PubMed:17511870, ECO:0000269 PubMed:24715754}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KIF21A

Genetic Association Database (GAD)
KIF21A
Human Genome Epidemiology (HuGE) Navigator
KIF21A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KIF21A
genes like me logo Genes that share disorders with KIF21A: view

No data available for Genatlas for KIF21A Gene

Publications for KIF21A Gene

  1. A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon. (PMID: 16157808) Yamada K. … Engle E.C. (Arch. Ophthalmol. 2005) 3 4 23 67
  2. KIF21A variant R954W in familial or sporadic cases of CFEOM1. (PMID: 19551685) Rudolph G. … Meindl A. (Eur J Ophthalmol 2009) 3 23
  3. A major mutation of KIF21A associated with congenital fibrosis of the extraocular muscles type 1 (CFEOM1) enhances translocation of Kank1 to the membrane. (PMID: 19559006) Kakinuma N. … Kiyama R. (Biochem. Biophys. Res. Commun. 2009) 3 23
  4. Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3. (PMID: 18332320) Lu S. … Larsson C. (Arch. Ophthalmol. 2008) 3 23
  5. Interaction of brefeldin A-inhibited guanine nucleotide-exchange protein (BIG) 1 and kinesin motor protein KIF21A. (PMID: 19020088) Shen X. … Vaughan M. (Proc. Natl. Acad. Sci. U.S.A. 2008) 3 23

Products for KIF21A Gene

Sources for KIF21A Gene

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