KIF12 - kinesin family member 12 Gene
Also Known as PFIC8
Species: Homo sapiens
About KIF12
This gene has 8 transcripts (splice variants), 116 orthologues, 41 paralogues and is associated with 1 phenotype. Biased expression in kidney (RPKM 28.1), gall bladder (RPKM 9.6) and 9 other tissues.
Summary
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]
KIF12 Products (10)
| mRNA | Protein | Name |
|---|---|---|
| XM_024447406.2 | XP_024303174.1 | kinesin-like protein KIF12 isoform X5 |
| NM_138424.2 | NP_612433.1 | kinesin-like protein KIF12 isoform 1 |
| XR_007061239.1 | ||
| XM_047422709.1 | XP_047278665.1 | kinesin-like protein KIF12 isoform X1 |
| XM_005251683.6 | XP_005251740.1 | kinesin-like protein KIF12 isoform X3 |
| XM_006716947.3 | XP_006717010.1 | kinesin-like protein KIF12 isoform X4 |
| XM_047422710.1 | XP_047278666.1 | kinesin-like protein KIF12 isoform X2 |
| XM_047422711.1 | XP_047278667.1 | kinesin-like protein KIF12 isoform X6 |
| NM_001388308.1 | NP_001375237.1 | kinesin-like protein KIF12 isoform 2 |
| XR_007061240.1 |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in extracellular exosome |
IDA
IDA: Inferred from direct assay
|
21082674 | GOA |
KIF12 Protein Structure
Kinesin: Kinesin motor domain (2 - 227)
- 0
- 100
- 200
- 300
- 400
- 513 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
kinesin-like protein KIF12 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Maturity-Onset Diabetes Of The Young |
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| Polycystic Kidney Disease |
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| Cakut |
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| Cholestasis, Progressive Familial Intrahepatic, 8 |
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| Megabladder, Congenital |
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| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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| Renal Cysts And Diabetes Syndrome |
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| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
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| Maturity-Onset Diabetes Of The Young, Type 3 |
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| Autosomal Dominant Polycystic Kidney Disease |
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| Robinow Syndrome, Autosomal Dominant 2 |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | KIF12 | MGD | MGI:1098232 |
| Bos taurus | KIF12 | VGNC | VGNC:30581 |
| Felis catus | KIF12 | VGNC | VGNC:97475 |
| Macaca mulatta | KIF12 | VGNC | VGNC:73877 |
| Canis familiaris | KIF12 | VGNC | VGNC:42380 |
| Rattus norvegicus | KIF12 | RGD | RGD:1308487 |
| Others | KIF12 | NCBI |