This gene encodes a member of the kinesin 4 subfamily of kinesin related proteins. The encoded protein is an ATP dependent microtubule-based motor protein that is involved in the intracellular transport of membranous organelles. This protein also associates with condensed chromosome arms and may be involved in maintaining chromosome integrity during mitosis. This protein may al... See more...

Aliases for KIF4A Gene

Aliases for KIF4A Gene

  • Kinesin Family Member 4A 2 3 5
  • Chromosome-Associated Kinesin KIF4A 3 4
  • Chromokinesin-A 3 4
  • KIF4 3 4
  • Chromokinesin 2
  • KIF4G1 3
  • MRX100 3

External Ids for KIF4A Gene

Previous GeneCards Identifiers for KIF4A Gene

  • GC0XP065687
  • GC0XP066987
  • GC0XP067743
  • GC0XP068376
  • GC0XP069292
  • GC0XP069427
  • GC0XP069428
  • GC0XP069509
  • GC0XP063330

Summaries for KIF4A Gene

Entrez Gene Summary for KIF4A Gene

  • This gene encodes a member of the kinesin 4 subfamily of kinesin related proteins. The encoded protein is an ATP dependent microtubule-based motor protein that is involved in the intracellular transport of membranous organelles. This protein also associates with condensed chromosome arms and may be involved in maintaining chromosome integrity during mitosis. This protein may also be involved in the organization of the central spindle prior to cytokinesis. A pseudogene of this gene is found on chromosome X.[provided by RefSeq, Mar 2010]

GeneCards Summary for KIF4A Gene

KIF4A (Kinesin Family Member 4A) is a Protein Coding gene. Diseases associated with KIF4A include Mental Retardation, X-Linked 100. Among its related pathways are Vesicle-mediated transport and Golgi-to-ER retrograde transport. Gene Ontology (GO) annotations related to this gene include ATPase activity and microtubule motor activity. An important paralog of this gene is KIF4B.

UniProtKB/Swiss-Prot Summary for KIF4A Gene

  • Motor protein that translocates PRC1 to the plus ends of interdigitating spindle microtubules during the metaphase to anaphase transition, an essential step for the formation of an organized central spindle midzone and midbody and for successful cytokinesis. May play a role in mitotic chromosomal positioning and bipolar spindle stabilization.

Gene Wiki entry for KIF4A Gene

Additional gene information for KIF4A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KIF4A Gene

Genomics for KIF4A Gene

GeneHancer (GH) Regulatory Elements for KIF4A Gene

Promoters and enhancers for KIF4A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ070288 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 762.7 +0.7 658 3.4 ZBTB40 POLR2A ATF1 CREB1 NFYC ELF1 MAX MNT ZNF280D NKRF KIF4A PDZD11 lnc-PDZD11-1 IGBP1 ARR3 RF00017-8493
GH0XJ071250 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 12.1 +963.8 963758 6.1 SP1 CTCF ZBTB6 POLR2A MYC CC2D1A NFYC HLF MAX ZNF280D ZMYM3 LOC105373247 lnc-IL2RG-3 MED12 KIF4A PIN4 NONO piR-59283 RF00017-8507
GH0XJ071066 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 12.1 +777.9 777871 3.4 SP1 SREBF1 SIX5 SMARCE1 POLR2A USF2 ATF1 FOS CREB1 HCFC1 SNX12 ENSG00000213018 MED12 TAF1 NONO ENSG00000229601 ENSG00000213706 P2RY4 ARR3 OGT
GH0XJ070433 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas 4.1 +144.8 144772 3.2 ZBTB40 CTCF SIX5 ZBTB6 RBPJ SMARCE1 POLR2A ATF1 CREB1 HCFC1 LOC105373244 TAF1 NONO MED12 ARR3 DLG3 KIF4A GDPD2 RF00017-8495
GH0XJ070219 Enhancer 1 Ensembl ENCODE 4.7 -69.6 -69643 1.3 GATA3 SREBF1 SMARCE1 TCF7L2 NR2F6 ZNF217 MNT TEAD4 NFIB RERE RN7SL581P RF00017-8492 lnc-P2RY4-2 KIF4A piR-48553-359
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KIF4A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KIF4A gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • E47
  • Egr-2
  • Hand1
  • ITF-2
  • Tal-1beta

Genomic Locations for KIF4A Gene

Genomic Locations for KIF4A Gene
chrX:70,290,029-70,420,924
(GRCh38/hg38)
Size:
130,896 bases
Orientation:
Plus strand
chrX:69,509,879-69,640,774
(GRCh37/hg19)
Size:
130,896 bases
Orientation:
Plus strand

Genomic View for KIF4A Gene

Genes around KIF4A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIF4A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIF4A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIF4A Gene

Proteins for KIF4A Gene

  • Protein details for KIF4A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95239-KIF4A_HUMAN
    Recommended name:
    Chromosome-associated kinesin KIF4A
    Protein Accession:
    O95239
    Secondary Accessions:
    • B2R7V5
    • D3DVU4
    • Q86TN3
    • Q86XX7
    • Q9NNY6
    • Q9NY24
    • Q9UMW3

    Protein attributes for KIF4A Gene

    Size:
    1232 amino acids
    Molecular mass:
    139881 Da
    Quaternary structure:
    • Interacts with unphosphorylated PRC1 during late mitosis.
    SequenceCaution:
    • Sequence=AAH49218.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for KIF4A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIF4A Gene

Post-translational modifications for KIF4A Gene

  • Ubiquitination at Lys955
  • Modification sites at PhosphoSitePlus

Other Protein References for KIF4A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KIF4A Gene

Domains & Families for KIF4A Gene

Gene Families for KIF4A Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for KIF4A Gene

GenScript: Design optimal peptide antigens:
  • Chromokinesin-A (KIF4A_HUMAN)
  • KIF4A protein (Q6PKB2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95239

UniProtKB/Swiss-Prot:

KIF4A_HUMAN :
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Chromokinesin subfamily.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Chromokinesin subfamily.
genes like me logo Genes that share domains with KIF4A: view

Function for KIF4A Gene

Molecular function for KIF4A Gene

UniProtKB/Swiss-Prot Function:
Motor protein that translocates PRC1 to the plus ends of interdigitating spindle microtubules during the metaphase to anaphase transition, an essential step for the formation of an organized central spindle midzone and midbody and for successful cytokinesis. May play a role in mitotic chromosomal positioning and bipolar spindle stabilization.

Gene Ontology (GO) - Molecular Function for KIF4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003777 microtubule motor activity IBA,TAS 21873635
GO:0005515 protein binding IPI 16431929
GO:0005524 ATP binding IEA --
GO:0008017 microtubule binding IBA 21873635
genes like me logo Genes that share ontologies with KIF4A: view
genes like me logo Genes that share phenotypes with KIF4A: view

Human Phenotype Ontology for KIF4A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for KIF4A Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIF4A

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for KIF4A Gene

Localization for KIF4A Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIF4A Gene

Nucleus matrix. Cytoplasm, cytoskeleton, spindle. Midbody. Chromosome. Note=Not present in the nucleolus. In early mitosis, associated with the mitotic spindle, in anaphase, localized to the spindle midzone and, in telophase and cytokinesis, to the midbody. In late cytokinesis, found in the center of the midbody. Associated with chromosomes at all stages of mitosis.

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 KIF4A gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
extracellular 4
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KIF4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005694 chromosome IEA --
GO:0005737 cytoplasm TAS 7929562
GO:0005819 spindle IEA --
genes like me logo Genes that share ontologies with KIF4A: view

Pathways & Interactions for KIF4A Gene

genes like me logo Genes that share pathways with KIF4A: view

Gene Ontology (GO) - Biological Process for KIF4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000281 mitotic cytokinesis IMP 15843429
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER TAS --
GO:0006996 organelle organization TAS 7929562
GO:0007018 microtubule-based movement TAS --
GO:0007052 mitotic spindle organization IBA 21873635
genes like me logo Genes that share ontologies with KIF4A: view

No data available for SIGNOR curated interactions for KIF4A Gene

Drugs & Compounds for KIF4A Gene

(2) Drugs for KIF4A Gene - From: ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ispinesib (SB-715992) Pharma Kinesin spindle protein (KSP)inhibitor 0
SB743921 Pharma Potent KSP inhibitor 0

(2) ApexBio Compounds for KIF4A Gene

Compound Action Cas Number
Ispinesib (SB-715992) Kinesin spindle protein (KSP)inhibitor 336113-53-2
SB743921 Potent KSP inhibitor 940929-33-9
genes like me logo Genes that share compounds with KIF4A: view

Transcripts for KIF4A Gene

mRNA/cDNA for KIF4A Gene

(1) REFSEQ mRNAs :
(17) Additional mRNA sequences :
(181) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIF4A

Alternative Splicing Database (ASD) splice patterns (SP) for KIF4A Gene

No ASD Table

Relevant External Links for KIF4A Gene

GeneLoc Exon Structure for
KIF4A
ECgene alternative splicing isoforms for
KIF4A

Expression for KIF4A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KIF4A Gene

Protein differential expression in normal tissues from HIPED for KIF4A Gene

This gene is overexpressed in Breast (45.2) and Liver (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KIF4A Gene



NURSA nuclear receptor signaling pathways regulating expression of KIF4A Gene:

KIF4A

SOURCE GeneReport for Unigene cluster for KIF4A Gene:

Hs.648326

mRNA Expression by UniProt/SwissProt for KIF4A Gene:

O95239-KIF4A_HUMAN
Tissue specificity: Highly expressed in hematopoietic tissues, fetal liver, spleen, thymus and adult thymus and bone marrow. Lower levels are found in heart, testis, kidney, colon and lung.

Evidence on tissue expression from TISSUES for KIF4A Gene

  • Liver(4.2)
  • Blood(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KIF4A Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
Regions:
Head and neck:
  • brain
  • head
genes like me logo Genes that share expression patterns with KIF4A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for KIF4A Gene

Orthologs for KIF4A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for KIF4A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIF4A 33
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 33
  • 95 (a)
OneToMany
KIF4A 32
  • 92.91 (n)
cow
(Bos Taurus)
Mammalia -- 33
  • 93 (a)
OneToMany
KIF4A 32
  • 91.83 (n)
mouse
(Mus musculus)
Mammalia Kif4 17 33 32
  • 86.68 (n)
rat
(Rattus norvegicus)
Mammalia Kif4a 32
  • 86.63 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 33
  • 81 (a)
OneToMany
chicken
(Gallus gallus)
Aves KIF4A 33 32
  • 72.82 (n)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 67 (a)
ManyToMany
-- 33
  • 59 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia kif4a 32
  • 68.94 (n)
African clawed frog
(Xenopus laevis)
Amphibia kif4a-A-prov 32
zebrafish
(Danio rerio)
Actinopterygii zgc:66125 32
  • 63.52 (n)
KIF4A 33
  • 62 (a)
OneToMany
zgc66125 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012471 32
  • 50.39 (n)
fruit fly
(Drosophila melanogaster)
Insecta Klp3A 33 34 32
  • 47.8 (n)
OneToMany
Kif19A 34
  • 38 (a)
nod 34
  • 35 (a)
worm
(Caenorhabditis elegans)
Secernentea klp-19 33 34 32
  • 46.42 (n)
OneToMany
klp-10 34
  • 27 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G60930 32
  • 50.65 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 47 (a)
OneToMany
Species where no ortholog for KIF4A 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KIF4A Gene

ENSEMBL:
Gene Tree for KIF4A (if available)
TreeFam:
Gene Tree for KIF4A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KIF4A: view image

Paralogs for KIF4A Gene

(7) SIMAP similar genes for KIF4A Gene using alignment to 2 proteins:

  • KIF4A_HUMAN
  • Q6PKB2_HUMAN
genes like me logo Genes that share paralogs with KIF4A: view

Variants for KIF4A Gene

Sequence variations from dbSNP and Humsavar for KIF4A Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1555949612 pathogenic, Mental retardation, X-linked 100 70,353,614(+) TTTTCCAGCA/ATAATGAAAG coding_sequence_variant, intron_variant, splice_acceptor_variant
rs1569234334 likely-pathogenic, Agenesis of corpus callosum, Hydrocephalus, Mental retardation, X-linked 100, Multicystic kidney dysplasia, Ventriculomegaly 70,329,420(+) G/T coding_sequence_variant, missense_variant
rs766819113 uncertain-significance, Delayed speech and language development, Difficulty walking, Generalized hypotonia, Gynecomastia, Horizontal nystagmus, Muscular hypotonia, Obesity, Pes planus, Poor motor coordination, Sleep disturbance 70,353,686(+) G/A/C coding_sequence_variant, missense_variant
rs1302742279 likely-benign, not provided 70,395,748(+) T/C coding_sequence_variant, synonymous_variant
rs1555949611 likely-benign, not specified 70,353,611(+) TTTTTTT/TTTTTTTT intron_variant

Structural Variations from Database of Genomic Variants (DGV) for KIF4A Gene

Variant ID Type Subtype PubMed ID
esv1361658 CNV insertion 17803354
esv1584074 OTHER inversion 17803354
esv2740208 CNV deletion 23290073
esv33082 CNV loss 17666407
esv3445940 CNV duplication 20981092
esv3574036 CNV loss 25503493
nsv1077235 CNV deletion 25765185
nsv1140037 CNV duplication 24896259
nsv1148236 CNV insertion 26484159
nsv1150461 CNV duplication 26484159
nsv425219 CNV deletion 16902084
nsv6950 CNV insertion 18451855
nsv953427 CNV deletion 24416366

Variation tolerance for KIF4A Gene

Residual Variation Intolerance Score: 63% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.40; 77.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KIF4A Gene

Human Gene Mutation Database (HGMD)
KIF4A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIF4A

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIF4A Gene

Disorders for KIF4A Gene

MalaCards: The human disease database

(1) MalaCards diseases for KIF4A Gene - From: HGMD, OMIM, ClinVar, GTR, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, x-linked 100
  • mrx100
- elite association - COSMIC cancer census association via MalaCards
Search KIF4A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KIF4A_HUMAN
  • Mental retardation, X-linked 100 (MRX100) [MIM:300923]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRX100 clinical features include intellectual disability, epilepsy, microcephaly and cortical malformations. {ECO:0000269 PubMed:24812067}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for KIF4A

genes like me logo Genes that share disorders with KIF4A: view

No data available for Genatlas for KIF4A Gene

Publications for KIF4A Gene

  1. Cell cycle-dependent translocation of PRC1 on the spindle by Kif4 is essential for midzone formation and cytokinesis. (PMID: 15625105) Zhu C … Jiang W (Proceedings of the National Academy of Sciences of the United States of America 2005) 3 4 23 56
  2. Essential roles of KIF4 and its binding partner PRC1 in organized central spindle midzone formation. (PMID: 15297875) Kurasawa Y … Todokoro K (The EMBO journal 2004) 3 4 23 56
  3. Human kinesin superfamily member 4 is dominantly localized in the nuclear matrix and is associated with chromosomes during mitosis. (PMID: 11736643) Lee YM … Kim W (The Biochemical journal 2001) 3 4 23 56
  4. Increased chromokinesin immunoreactivity in retinoblastoma cells. (PMID: 9168136) Yan RT … Wang SZ (Gene 1997) 3 4 23 56
  5. Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function. (PMID: 24812067) Willemsen MH … Kleefstra T (Journal of medical genetics 2014) 3 4 56

Products for KIF4A Gene

Sources for KIF4A Gene