This gene encodes a motor protein that belongs to the kinesin-like protein family. Members of this protein family are known to be involved in various kinds of spindle dynamics. The function of this gene product includes chromosome positioning, centrosome separation and establishing a bipolar spindle during cell mitosis. [provided by RefSeq, Jul 2008] See more...

Aliases for KIF11 Gene

Aliases for KIF11 Gene

  • Kinesin Family Member 11 2 3 5
  • TRIP5 2 3 4
  • Thyroid Receptor-Interacting Protein 5 3 4
  • Kinesin-Like Spindle Protein HKSP 3 4
  • Kinesin-Related Motor Protein Eg5 3 4
  • Kinesin-Like Protein KIF11 3 4
  • TR-Interacting Protein 5 3 4
  • Kinesin-Like Protein 1 3 4
  • TRIP-5 3 4
  • KNSL1 3 4
  • HKSP 2 3
  • EG5 3 4
  • Kinesin-Like 1 2
  • MCLMR 3
  • KIF11 5
  • Eg5 2

External Ids for KIF11 Gene

Previous HGNC Symbols for KIF11 Gene

  • KNSL1

Previous GeneCards Identifiers for KIF11 Gene

  • GC10P093574
  • GC10P094484
  • GC10P094017
  • GC10P094342
  • GC10P087978
  • GC10P094352
  • GC10P092593

Summaries for KIF11 Gene

Entrez Gene Summary for KIF11 Gene

  • This gene encodes a motor protein that belongs to the kinesin-like protein family. Members of this protein family are known to be involved in various kinds of spindle dynamics. The function of this gene product includes chromosome positioning, centrosome separation and establishing a bipolar spindle during cell mitosis. [provided by RefSeq, Jul 2008]

GeneCards Summary for KIF11 Gene

KIF11 (Kinesin Family Member 11) is a Protein Coding gene. Diseases associated with KIF11 include Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation and Syndromic Rod-Cone Dystrophy. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include protein kinase binding. An important paralog of this gene is KIF15.

UniProtKB/Swiss-Prot Summary for KIF11 Gene

  • Motor protein required for establishing a bipolar spindle during mitosis (PubMed:19001501). Required in non-mitotic cells for transport of secretory proteins from the Golgi complex to the cell surface (PubMed:23857769).

Tocris Summary for KIF11 Gene

  • Kinesin superfamily proteins (KIFs) are motor proteins that convert chemical energy into mechanical force, typically by hydrolysis of ATP. They act upon microtubules to move vesicles and organelles from the cell centre to the periphery and cause the beating of flagella and cilia.

Gene Wiki entry for KIF11 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KIF11 Gene

Genomics for KIF11 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KIF11 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
GH10J092590 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 255.5 +19.2 19235 6.1 TBP ZBTB10 SP1 MXD4 FEZF1 CEBPA SIX5 NR2C1 MNT DEK KIF11 NONHSAG006535.2 BTAF1 RPL17P34 TNKS2 MYOF EIF2S2P3 TNKS2-AS1 CPEB3 MARCHF5
GH10J092572 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 -0.5 -504 4 ZSCAN16 TBP ZBTB10 SP1 MXD4 MNT IKZF1 SMAD5 ETS1 IRF2 IDE KIF11 BTAF1 RPL17P34 MYOF TNKS2 MARK2P9 EIF2S2P3 lnc-CPEB3-2 CPEB3
GH10J092688 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 16.4 +119.2 119226 10.7 ZSCAN16 TBP ZBTB10 MXD4 FEZF1 CEBPA MNT IKZF1 SMAD5 HES1 HHEX BTAF1 RPL17P34 KIF11 PDE6C IDE TNKS2 EIF2S2P3 lnc-IDE-3 HSALNG0079722
GH10J092754 Enhancer 1.6 VISTA FANTOM5 ENCODE 15.6 +182.2 182248 4.2 TBP BCL11A FEZF1 CEBPA MNT IKZF1 SMAD5 IRF2 HES1 MBD2 BTAF1 RPL17P34 KIF11 FGFBP3 PDE6C TNKS2 MARK2P9 EXOC6 MARCHF5 HHEX
GH10J092833 Promoter/Enhancer 1.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.7 +260.7 260714 2.8 USF2 THRAP3 ATF4 DACH1 ATF3 FOS CEBPG EXOC6 IDE KIF11 MARCHF5 HSALNG0079727 ENSG00000225118 CYP26C1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KIF11 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KIF11

Top Transcription factor binding sites by QIAGEN in the KIF11 gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • NF-YC

Genomic Locations for KIF11 Gene

Latest Assembly
chr10:92,574,105-92,655,395
(GRCh38/hg38)
Size:
81,291 bases
Orientation:
Plus strand

Previous Assembly
chr10:94,352,887-94,415,152
(GRCh37/hg19 by Entrez Gene)
Size:
62,266 bases
Orientation:
Plus strand

chr10:94,353,043-94,415,150
(GRCh37/hg19 by Ensembl)
Size:
62,108 bases
Orientation:
Plus strand

Genomic View for KIF11 Gene

Genes around KIF11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIF11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIF11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIF11 Gene

Proteins for KIF11 Gene

  • Protein details for KIF11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P52732-KIF11_HUMAN
    Recommended name:
    Kinesin-like protein KIF11
    Protein Accession:
    P52732
    Secondary Accessions:
    • A0AV49
    • B2RMV3
    • Q15716
    • Q5VWX0

    Protein attributes for KIF11 Gene

    Size:
    1056 amino acids
    Molecular mass:
    119159 Da
    Quaternary structure:
    • Interacts with the thyroid hormone receptor in the presence of thyroid hormone. Component of a large chromatin remodeling complex, at least composed of MYSM1, PCAF, RBM10 and KIF11/TRIP5. Interacts (via C-terminus) with the kinase NEK6 in both interphase and mitosis.

    Three dimensional structures from OCA and Proteopedia for KIF11 Gene

neXtProt entry for KIF11 Gene

Post-translational modifications for KIF11 Gene

  • Phosphorylated exclusively on serine during S phase, but on both serine and Thr-926 during mitosis, so controlling the association of KIF11 with the spindle apparatus (probably during early prophase).
  • A subset of this protein primarily localized at the spindle pole is phosphorylated by NEK6 during mitosis; phosphorylation is required for mitotic function.
  • Ubiquitination at Lys1034
  • Modification sites at PhosphoSitePlus

Other Protein References for KIF11 Gene

No data available for DME Specific Peptides for KIF11 Gene

Domains & Families for KIF11 Gene

Gene Families for KIF11 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for KIF11 Gene

Suggested Antigen Peptide Sequences for KIF11 Gene

GenScript: Design optimal peptide antigens:
  • Thyroid receptor-interacting protein 5 (KIF11_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P52732

UniProtKB/Swiss-Prot:

KIF11_HUMAN :
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. BimC subfamily.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. BimC subfamily.
genes like me logo Genes that share domains with KIF11: view

Function for KIF11 Gene

Molecular function for KIF11 Gene

UniProtKB/Swiss-Prot Function:
Motor protein required for establishing a bipolar spindle during mitosis (PubMed:19001501). Required in non-mitotic cells for transport of secretory proteins from the Golgi complex to the cell surface (PubMed:23857769).

Phenotypes From GWAS Catalog for KIF11 Gene

Gene Ontology (GO) - Molecular Function for KIF11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003777 microtubule motor activity TAS 8548803
GO:0005515 protein binding IPI 28169274
GO:0005524 ATP binding IEA --
GO:0008017 microtubule binding IEA --
genes like me logo Genes that share ontologies with KIF11: view
genes like me logo Genes that share phenotypes with KIF11: view

Human Phenotype Ontology for KIF11 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KIF11 Gene

MGI Knock Outs for KIF11:

Animal Models for research

  • Taconic Biosciences Mouse Models for KIF11

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIF11

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KIF11 Gene

Localization for KIF11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIF11 Gene

Cytoplasm. Cytoplasm, cytoskeleton, spindle pole.

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 KIF11 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 4
plasma membrane 2
extracellular 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Mitotic spindle (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KIF11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 colocalizes_with spindle pole IDA 14718566
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IEA --
GO:0005819 spindle TAS,IDA 19001501
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with KIF11: view

Pathways & Interactions for KIF11 Gene

genes like me logo Genes that share pathways with KIF11: view

Pathways by source for KIF11 Gene

1 GeneGo (Thomson Reuters) pathway for KIF11 Gene
  • Cell cycle_Spindle assembly and chromosome separation
1 Qiagen pathway for KIF11 Gene
  • Mitotic Roles of Polo Like Kinases
1 Cell Signaling Technology pathway for KIF11 Gene

SIGNOR curated interactions for KIF11 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for KIF11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle TAS 8548803
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER TAS --
GO:0007018 microtubule-based movement TAS --
GO:0007049 cell cycle IEA --
GO:0007051 spindle organization IMP 14718566
genes like me logo Genes that share ontologies with KIF11: view

Drugs & Compounds for KIF11 Gene

(29) Drugs for KIF11 Gene - From: DrugBank, ApexBio, DGIdb, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Monastrol Experimental Pharma Target Selective inhibitor of mitotic kinesin Eg5 0
(1S)-1-CYCLOPROPYL-2-[(2S)-4-(2,5-DIFLUOROPHENYL)-2-PHENYL-2,5-DIHYDRO-1H-PYRROL-1-YL]-2-OXOETHANAMINE Experimental Pharma Target 0
(2S)-4-(2,5-DIFLUOROPHENYL)-N,N-DIMETHYL-2-PHENYL-2,5-DIHYDRO-1H-PYRROLE-1-CARBOXAMIDE Experimental Pharma Target 0
(2S)-4-(2,5-DIFLUOROPHENYL)-N-METHYL-2-PHENYL-N-PIPERIDIN-4-YL-2,5-DIHYDRO-1H-PYRROLE-1-CARBOXAMIDE Experimental Pharma Target 0
(4R)-4-(3-HYDROXYPHENYL)-N,N,7,8-TETRAMETHYL-3,4-DIHYDROISOQUINOLINE-2(1H)-CARBOXAMIDE Experimental Pharma Target 0

(3) Additional Compounds for KIF11 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-trityl-l-cysteine
2799-07-7
ARRY 520 trifluoroacetate
885060-09-3

(5) Tocris Compounds for KIF11 Gene

Compound Action Cas Number
ARRY 520 trifluoroacetate Potent and selective kinesin spindle protein (KSP) inhibitor; induces Mcl-1 degradation 885060-09-3
K 858 Selective ATP-uncompetitive mitotic kinesin Eg5 inhibitor 72926-24-0
Monastrol Selective inhibitor of mitotic kinesin Eg5 254753-54-3
Paprotrain Reversible inhibitor of MKLP-2 57046-73-8
S-Trityl-L-cysteine Potent, selective inhibitor of mitotic kinesin Eg5 2799-07-7

(4) ApexBio Compounds for KIF11 Gene

Compound Action Cas Number
GSK-923295 CENP-E inhibitor,small-molecule 1088965-37-0
Ispinesib (SB-715992) Kinesin spindle protein (KSP)inhibitor 336113-53-2
MPI-0479605 Mps1 inhibitor,selective and ATP competitive 1246529-32-7
SB743921 Potent KSP inhibitor 940929-33-9
genes like me logo Genes that share compounds with KIF11: view

Drug products for research

Transcripts for KIF11 Gene

mRNA/cDNA for KIF11 Gene

1 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIF11

Alternative Splicing Database (ASD) splice patterns (SP) for KIF11 Gene

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

ExUns: 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24
SP1:
SP2:
SP3: - - - - - -
SP4:
SP5:
SP6:
SP7: - - -
SP8:
SP9:

Relevant External Links for KIF11 Gene

GeneLoc Exon Structure for
KIF11

Expression for KIF11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KIF11 Gene

mRNA differential expression in normal tissues according to GTEx for KIF11 Gene

This gene is overexpressed in Testis (x4.2).

Protein differential expression in normal tissues from HIPED for KIF11 Gene

This gene is overexpressed in Testis (32.2) and Ovary (21.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KIF11 Gene



Protein tissue co-expression partners for KIF11 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KIF11

SOURCE GeneReport for Unigene cluster for KIF11 Gene:

Hs.8878

Evidence on tissue expression from TISSUES for KIF11 Gene

  • Lung(4.4)
  • Skin(2.6)
  • Intestine(2.5)
  • Blood(2.3)
  • Kidney(2.2)
  • Nervous system(2.2)
  • Bone marrow(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KIF11 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • lymphatic
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • skull
  • tooth
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • lymph node
  • lymph vessel
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with KIF11: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for KIF11 Gene

Orthologs for KIF11 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for KIF11 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KIF11 30 31
  • 99.84 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KIF11 30 31
  • 90.47 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KIF11 30 31
  • 88.72 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Kif11 30 17 31
  • 83.24 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Kif11 30
  • 83.16 (n)
Oppossum
(Monodelphis domestica)
Mammalia KIF11 31
  • 73 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KIF11 31
  • 51 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KIF11 30 31
  • 66.54 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KIF11 31
  • 56 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kif11 30
  • 61.82 (n)
Str.3480 30
African clawed frog
(Xenopus laevis)
Amphibia MGC52588 30
Zebrafish
(Danio rerio)
Actinopterygii kif11 30 31
  • 56.42 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Klp61F 30 31
  • 47.86 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea bmk-1 31
  • 34 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KIP1 31 33
  • 27 (a)
OneToOne
Rice
(Oryza sativa)
Liliopsida Os.8746 30
Corn
(Zea mays)
Liliopsida Zm.4944 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 63 (a)
OneToOne
Species where no ortholog for KIF11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • 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 Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 KIF11 Gene

ENSEMBL:
Gene Tree for KIF11 (if available)
TreeFam:
Gene Tree for KIF11 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KIF11: view image

Paralogs for KIF11 Gene

Variants for KIF11 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KIF11 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
834866 Uncertain Significance: not provided 92,648,213(+) T/C
NM_004523.4(KIF11):c.2549T>C (p.Val850Ala)
MISSENSE
837625 Likely Pathogenic: not provided 92,609,019(+) G/C
NM_004523.4(KIF11):c.388-1G>C
SPLICE_ACCEPTOR
840589 Uncertain Significance: not provided 92,613,090(+) T/C
NM_004523.4(KIF11):c.749T>C (p.Ile250Thr)
MISSENSE
843264 Uncertain Significance: not provided 92,632,608(+) T/C
NM_004523.4(KIF11):c.1617T>C (p.Asn539=)
SYNONYMOUS
848431 Pathogenic/Likely Pathogenic: Retinal dystrophy; not provided 92,645,527(+) TATCTC/T
NM_004523.4(KIF11):c.2434_2438del (p.Ser812fs)
FRAMESHIFT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KIF11 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for KIF11 Gene

Variant ID Type Subtype PubMed ID
dgv168n67 CNV gain 20364138
nsv1046258 CNV gain 25217958
nsv1122548 CNV deletion 24896259

Variation tolerance for KIF11 Gene

Residual Variation Intolerance Score: 72.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.30; 41.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KIF11 Gene

Human Gene Mutation Database (HGMD)
KIF11
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIF11

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIF11 Gene

Disorders for KIF11 Gene

MalaCards: The human disease database

(14) MalaCards diseases for KIF11 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
  • mclmr
syndromic rod-cone dystrophy
  • syndromic retinitis pigmentosa
hereditary lymphedema i
  • congenital primary lymphedema
congenital lymphedema
  • milroy disease
microcephaly
  • microcephalus
- elite association - COSMIC cancer census association via MalaCards
Search KIF11 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KIF11_HUMAN
  • Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) [MIM:152950]: An autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes. {ECO:0000269 PubMed:22284827}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for KIF11

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with KIF11: view

No data available for Genatlas for KIF11 Gene

Publications for KIF11 Gene

  1. Phosphorylation by p34cdc2 regulates spindle association of human Eg5, a kinesin-related motor essential for bipolar spindle formation in vivo. (PMID: 8548803) Blangy A … Nigg EA (Cell 1995) 2 3 4 23
  2. Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. (PMID: 22284827) Ostergaard P … Jeffery S (American journal of human genetics 2012) 3 4 74
  3. The NIMA-family kinase Nek6 phosphorylates the kinesin Eg5 at a novel site necessary for mitotic spindle formation. (PMID: 19001501) Rapley J … Roig J (Journal of cell science 2008) 3 4 23
  4. Mutation screening of a haplotype block around the insulin degrading enzyme gene and association with Alzheimer's disease. (PMID: 15858821) Feuk L … Brookes AJ (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2005) 3 23 41
  5. Kinesin-5/Eg5 is important for transport of CARTS from the trans-Golgi network to the cell surface. (PMID: 23857769) Wakana Y … Malhotra V (The Journal of cell biology 2013) 3 4

Products for KIF11 Gene

Sources for KIF11 Gene