KIF11
  • 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
KIF11 (HGNC:6388) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
kinesin family member 11
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
KNSL1
Alias symbols
Eg5, HKSP, TRIP5
%HI
9.02(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.18(Read more about gnomAD LOEUF score)
Cytoband
10q23.33
Genomic Coordinates
GRCh37/hg19: chr10:94352887-94415152 NCBI Ensembl UCSC
GRCh38/hg38: chr10:92593130-92655395 NCBI Ensembl UCSC
MANE Select Transcript
NM_004523.4 ENST00000260731.5 (Read more about MANE Select)
Function
Motor protein required for establishing a bipolar spindle and thus contributing to chromosome congression during mitosis (PubMed:19001501, PubMed:37728657). Required in non-mitotic cells for transport of secretory proteins from the Golgi complex to the cell surface (PubMed:23857769). {ECO:0000269|PubMed:19001501, ECO:0000269|PubMed:23857769}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-852
ClinGen Curation ID:
CCID:007365
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/01/2013

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
  • microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability Monarch
HI Evidence:
  • PUBMED: 22284827
    "In 5 unrelated probands with microcephaly, lymphedema, and mild learning difficulties, only 1 of whom had eye abnormalities (hypermetropic astigmatism and chorioretinopathy), Ostergaard et al. (2012) performed whole-exome sequencing and identified heterozygosity for truncating mutations in the KIF11 gene (148760) in 3 of the probands. Sequencing the KIF11 gene in 9 additional unrelated probands revealed 7 more independent heterozygous KIF11 variants. Each of the 10 identified KIF11 variants was assessed in all available relatives; 2 were shown to have arisen de novo, and 8 demonstrated cosegregation with microcephaly, variable in its severity, and with a spectrum of eye and lymphatic abnormalities. Noting the substantial phenotypic overlap between MLCRD (microcephaly, primary lymphedema, and chorioretinal dysplasia) syndrome and CDMMR (chorioretinal dysplasia, microcephaly, and mental retardation) syndrome, Ostergaard et al. (2012) analyzed the KIF11 gene in 6 unrelated CDMMR families and identified heterozygous mutations in 5 of them; 1 mutation was the same nonsense mutation previously found in a family with microcephaly lymphedema. Ostergaard et al. (2012) concluded that the MLCRD and CDMMR syndromes should be considered a single entity with variable clinical features." (Summary from OMIM # 152950)
  • PUBMED: 22653704
    Hazan et al. 2012 report a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family with a novel, de novo nonsense mutation in exon 2 of KIF11 (c. 139C>T, p.Arg47Ter). The variant was not present in dbSNP and it was not observed in a cohort of >600 control samples primarily of European origin.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000010.10) (NC_000010.11)