KIF12 Chromosome 9
Kinesin family member 12
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What This Gene Does
This gene encodes a member of the kinesin superfamily of microtubule-associated molecular motors with functions related to the microtubule cytosekelton. Members of this superfamily play important roles in intracellular transport and cell division. A similar protein in mouse functions in the beta cell antioxidant signaling cascade, acting as a scaffold for the transcription factor specificity protein 1 (Sp1). Mice that lack this gene exhibit beta cell oxidative stress resulting in hypoinsulinemic glucose intolerance. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
Kinesins
Locus Type
gene with protein product
Location
9q32
Ensembl
ENSG00000136883
Associated Conditions (4)
Inborn genetic diseases
Cholestasis
progressive familial intrahepatic
8
Key Variants
RS117751044
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147277754
Conflicting classifications of pathogenicity
Health Risk
RS200181649
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1219881581
Likely pathogenic
Health Risk
RS1489368528
Likely pathogenic
Cholestasis, progressive familial intrahepatic, 8
Health Risk
RS2490352623
Likely pathogenic
Cholestasis, progressive familial intrahepatic, 8
Health Risk
RS564811653
Likely pathogenic
Cholestasis, progressive familial intrahepatic, 8
Health Risk
RS750069192
Likely pathogenic
Cholestasis, progressive familial intrahepatic, 8
Health Risk
RS1391374865
Pathogenic
Cholestasis, progressive familial intrahepatic, 8
Health Risk
RS2490320436
Pathogenic
Health Risk
RS763396255
Pathogenic
Health Risk
RS781206726
Pathogenic
Cholestasis, progressive familial intrahepatic, 8
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS117751044 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS147277754 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200181649 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1219881581 | Health Risk | Likely pathogenic | — |
| RS1489368528 | Health Risk | Likely pathogenic | Cholestasis, progressive familial intrahepatic, 8 |
| RS2490352623 | Health Risk | Likely pathogenic | Cholestasis, progressive familial intrahepatic, 8 |
| RS564811653 | Health Risk | Likely pathogenic | Cholestasis, progressive familial intrahepatic, 8 |
| RS750069192 | Health Risk | Likely pathogenic | Cholestasis, progressive familial intrahepatic, 8 |
| RS1391374865 | Health Risk | Pathogenic | Cholestasis, progressive familial intrahepatic, 8 |
| RS2490320436 | Health Risk | Pathogenic | — |
| RS763396255 | Health Risk | Pathogenic | — |
| RS781206726 | Health Risk | Pathogenic | Cholestasis, progressive familial intrahepatic, 8 |