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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
  • Kinesin-Like Protein KIF21A 3
  • 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 Tukel Syndrome. Among its related pathways are Vesicle-mediated transport and Factors involved in megakaryocyte development and platelet production. GO annotations related to this gene include binding and microtubule binding. An important paralog of this gene is KIF21B.

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F039440 1.1 ENCODE 9.5 +0.6 608 3.9 ARNT ARID4B SIN3A DMAP1 YY1 ZNF143 SP3 SP5 MXD4 REST C12orf40 KIF21A GC12P039416
GH12F039831 1.2 Ensembl ENCODE 7.6 -388.6 -388616 1.3 PKNOX1 BMI1 RAD21 YY1 ZNF335 GLIS2 ETV6 FOS CREM JUNB KIF21A ENSG00000199571 GC12M039820 GC12M039853 PIR55346
GH12F039426 0.7 ENCODE 8.6 +16.0 16036 2.1 SOX13 SAP130 SOX5 GATAD2A TEAD1 FOXA3 CEBPB HMG20A ZGPAT KLF16 KIF21A GC12P039416
GH12F039617 1 ENCODE 5.4 -177.0 -176951 5.6 HDGF PKNOX1 WRNIP1 ZNF133 SIN3A FEZF1 YY1 GATA2 ELK1 CBX5 KIF21A C12orf40 ENSG00000270273
GH12F039144 0.9 Ensembl 4.7 +298.1 298077 1.4 HDAC1 ATF1 CBX3 CREB3L1 NFRKB RAD21 CHAMP1 ZNF766 CREM HCFC1 KIF21A GC12P039117 ENSG00000270718
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000653406 590 2401 ARID4B SIN3A DMAP1 YY1 ZNF143 SP3 SP5 MXD4 REST TBX21

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};

    Three dimensional structures from OCA and Proteopedia for KIF21A Gene

    Alternative splice isoforms for KIF21A Gene

neXtProt entry for KIF21A Gene

Post-translational modifications for KIF21A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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:0003777 microtubule motor activity IEA,IBA --
GO:0005515 protein binding IPI 19559006
GO:0005524 ATP binding IEA --
GO:0008017 microtubule 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
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 KIF21A gene
Compartment Confidence
cytoskeleton 4
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for KIF21A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005871 kinesin complex IBA --
GO:0005874 microtubule IEA --
genes like me logo Genes that share ontologies with KIF21A: view

Pathways & Interactions for KIF21A Gene

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

Gene Ontology (GO) - Biological Process for KIF21A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007018 microtubule-based movement IEA,IBA --
genes like me logo Genes that share ontologies with KIF21A: view

No data available for SIGNOR curated interactions for KIF21A Gene

Transcripts for KIF21A Gene

Unigene Clusters for KIF21A Gene

Kinesin family member 21A:
Representative Sequences:

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for KIF21A Gene



Protein tissue co-expression partners for KIF21A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KIF21A Gene:

KIF21A

SOURCE GeneReport for Unigene cluster for KIF21A Gene:

Hs.374201
genes like me logo Genes that share expression patterns with KIF21A: view

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
chimpanzee
(Pan troglodytes)
Mammalia KIF21A 34
  • 99.55 (n)
dog
(Canis familiaris)
Mammalia KIF21A 34 35
  • 93.98 (n)
cow
(Bos Taurus)
Mammalia KIF21A 34 35
  • 93.26 (n)
oppossum
(Monodelphis domestica)
Mammalia KIF21A 35
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIF21A 35
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kif21a 34 16 35
  • 86.42 (n)
rat
(Rattus norvegicus)
Mammalia Kif21a 34
  • 85.25 (n)
chicken
(Gallus gallus)
Aves KIF21A 34 35
  • 81.03 (n)
lizard
(Anolis carolinensis)
Reptilia KIF21A 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kif21a 34
  • 75.94 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.10601 34
zebrafish
(Danio rerio)
Actinopterygii KIF21A (1 of 2) 35
  • 79 (a)
OneToMany
kif21a 34 35
  • 66.05 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007815 34
  • 52.33 (n)
fruit fly
(Drosophila melanogaster)
Insecta Klp31E 34 35
  • 52.08 (n)
worm
(Caenorhabditis elegans)
Secernentea klp-12 34 35
  • 45.53 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2958 35
  • 43 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7972 34
Species where no ortholog for KIF21A 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 (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
rs121912585 Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700], Pathogenic 39,332,405(-) AGCAA(C/T)GGGAG reference, missense
rs121912586 Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700], Pathogenic 39,332,404(-) GCAAC(A/G)GGAGG reference, missense
rs121912587 Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700], Pathogenic 39,332,236(-) CAACA(C/T)AATGC reference, missense
rs121912588 Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700], Pathogenic 39,358,326(-) CTTTA(C/T)GGAAA reference, missense
rs121912589 Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700], Pathogenic 39,332,608(-) CAGAT(A/G)TGAAT reference, missense

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

Variant ID Type Subtype PubMed ID
dgv21n68 CNV gain 17160897
esv2494882 CNV deletion 19546169
esv3350881 CNV insertion 20981092
esv3629258 CNV gain 21293372
esv3629259 CNV loss 21293372
esv6322 CNV gain 19470904
nsv1110691 CNV insertion 24896259
nsv470286 CNV gain 18288195
nsv558589 CNV loss 21841781
nsv558590 CNV loss 21841781
nsv680 CNV insertion 18451855

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

Disorder Aliases PubMed IDs
fibrosis of extraocular muscles, congenital, 1
  • fibrosis of extraocular muscles, congenital, 3b
tukel syndrome
  • congenital fibrosis of the extraocular muscles
kif21a-related congenital fibrosis of the extraocular muscles
hypotropia
fibrosis of extraocular muscles, congenital, 2
  • congenital fibrosis of the extraocular muscles 2
- 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 22 64
  2. Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients. (PMID: 15621876) Tiab L. … Schorderet D. (Ophthalmic Genet. 2004) 3 22 46 64
  3. KIF21A variant R954W in familial or sporadic cases of CFEOM1. (PMID: 19551685) Rudolph G. … Meindl A. (Eur J Ophthalmol 2009) 3 22 64
  4. 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 22 64
  5. 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 22 64

Products for KIF21A Gene

Sources for KIF21A Gene

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