Gene: KIF11
Alternate names for this Gene: EG5|HKSP|KNSL1|MCLMR|TRIP5
Gene Summary: 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.
Gene is located in Chromosome: 10
Location in Chromosome : 10q23.33
Description of this Gene: kinesin family member 11
Type of Gene: protein-coding
rs113092121 in
KIF11 gene and
Asthma
PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.
rs113092121 in
KIF11 gene and
Childhood asthma
PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.
rs10882095 in
KIF11 gene and
Diabetes Mellitus, Non-Insulin-Dependent
PMID 22158537 2011 Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.
rs1554863044 in
KIF11 gene and
Dysmorphic features
PMID 28494495 2017 Mutations in LRP5,FZD4, TSPAN12, NDP, ZNF408, or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy.
PMID 27212378 2016 Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis.
PMID 28785766 2017 Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy.
PMID 25115524 2014 Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.
PMID 25996076 2016 Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11.
PMID 24281367 2014 Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.
PMID 25934493 2015 No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.
PMID 25124931 2014 Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.
PMID 22284827 2012 Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
PMID 26472404 2016 KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy.
rs1064796738 in
KIF11 gene and
Lymphedema, microcephaly and chorioretinopathy syndrome
PMID 25124931 2014 Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.
PMID 25115524 2014 Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.
PMID 22284827 2012 Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
rs1064796738 in
KIF11 gene and
Microcephaly (physical finding)
PMID 25115524 2014 Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.
PMID 25124931 2014 Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.
rs1064796738 in
KIF11 gene and
Narrow forehead
PMID 25124931 2014 Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.
PMID 25115524 2014 Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.
rs1064796738 in
KIF11 gene and
Poor school performance
PMID 25115524 2014 Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.
PMID 25124931 2014 Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.
rs7067733 in
KIF11 gene and
Serum total cholesterol measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
rs1064796738 in
KIF11 gene and
Sloping forehead
PMID 25124931 2014 Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.
PMID 25115524 2014 Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.
rs7067733 in
KIF11 gene and
Triglycerides measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.