KIF14 Chromosome 1
Kinesin family member 14
Upload your DNA to see your personal genotypes for variants in KIF14.
What This Gene Does
This gene encodes a member of the kinesin-3 superfamily of microtubule motor proteins. These proteins are involved in numerous processes including vesicle transport, chromosome segregation, mitotic spindle formation, and cytokinesis. In human HeLa-S3 and 293T cells, this protein is localized to the cytoplasm during interphase, to the spindle poles and spindle microtubules during mitosis, and to the midbody during cytokinesis. An internal motor domain displays microtubule-dependent ATPase activity, consistent with its function as a microtubule motor protein. Knockdown of this gene results in failed cytokinesis with endoreplication, which results in multinucleated cells. This gene has been identified as a likely oncogene in breast, lung and ovarian cancers, as well as retinoblastomas and gliomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
Gene Info
Gene Group
Kinesins
Locus Type
gene with protein product
Location
1q32.1
Ensembl
ENSG00000118193
Associated Conditions (8)
Microcephaly 20
primary
autosomal recessive
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
KIF14-related disorder
Inborn genetic diseases
Joubert syndrome and related disorders
Clear cell carcinoma of kidney
Key Variants
RS1256629719
Conflicting classifications of pathogenicity
Microcephaly 20, primary, autosomal recessive
Health Risk
RS138621008
Conflicting classifications of pathogenicity
Microcephaly 20, primary, autosomal recessive
Health Risk
RS141768593
Conflicting classifications of pathogenicity
Microcephaly 20, primary, autosomal recessive
Health Risk
RS143156660
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146186348
Conflicting classifications of pathogenicity
Microcephaly 20, primary, autosomal recessive
Health Risk
RS200701567
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS749131549
Conflicting classifications of pathogenicity
Joubert syndrome and related disorders, Joubert syndrome and related disorders
Health Risk
RS764577786
Conflicting classifications of pathogenicity
KIF14-related disorder, KIF14-related disorder
Health Risk
RS151249558
Likely pathogenic
Joubert syndrome and related disorders, KIF14-related disorder, Clear cell carcinoma of kidney
Health Risk
RS1553254322
Likely pathogenic
Microcephaly 20, primary, autosomal recessive
Health Risk
RS1558085343
Likely pathogenic
Health Risk
RS1660016633
Likely pathogenic
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Health Risk
All Variants (29)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1256629719 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 20, primary, autosomal recessive |
| RS138621008 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 20, primary, autosomal recessive |
| RS141768593 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 20, primary, autosomal recessive |
| RS143156660 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146186348 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 20, primary, autosomal recessive |
| RS200701567 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS749131549 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome and related disorders, Joubert syndrome and related disorders |
| RS764577786 | Health Risk | Conflicting classifications of pathogenicity | KIF14-related disorder, KIF14-related disorder |
| RS151249558 | Health Risk | Likely pathogenic | Joubert syndrome and related disorders, KIF14-related disorder, Clear cell carcinoma of kidney |
| RS1553254322 | Health Risk | Likely pathogenic | Microcephaly 20, primary, autosomal recessive |
| RS1558085343 | Health Risk | Likely pathogenic | — |
| RS1660016633 | Health Risk | Likely pathogenic | Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome |
| RS2527210283 | Health Risk | Likely pathogenic | Microcephaly 20, primary, autosomal recessive |
| RS2527564762 | Health Risk | Likely pathogenic | Microcephaly 20, primary, autosomal recessive |
| RS2527565495 | Health Risk | Likely pathogenic | Joubert syndrome and related disorders, Joubert syndrome and related disorders |
| RS2527664861 | Health Risk | Likely pathogenic | Joubert syndrome and related disorders, Joubert syndrome and related disorders |
| RS764882468 | Health Risk | Likely pathogenic | Joubert syndrome and related disorders, Joubert syndrome and related disorders |
| RS981349334 | Health Risk | Likely pathogenic | Microcephaly 20, primary, autosomal recessive |
| RS1252780106 | Health Risk | Pathogenic | — |
| RS1553253022 | Health Risk | Pathogenic | Microcephaly 20, primary, autosomal recessive |
| RS1553259528 | Health Risk | Pathogenic | Microcephaly 20, primary, autosomal recessive |
| RS1553259539 | Health Risk | Pathogenic | Microcephaly 20, primary, autosomal recessive |
| RS1553264033 | Health Risk | Pathogenic | Microcephaly 20, primary, autosomal recessive |
| RS1553264036 | Health Risk | Pathogenic | Microcephaly 20, primary, autosomal recessive |
| RS1558080206 | Health Risk | Pathogenic | Microcephaly 20, primary, autosomal recessive |
| RS748510599 | Health Risk | Pathogenic | — |
| RS786201012 | Health Risk | Pathogenic | Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome |
| RS786201013 | Health Risk | Pathogenic | Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome |
| RS774318019 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly 20, primary, autosomal recessive |