KIF12 - kinesin family member 12 Gene

Also Known as PFIC8

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 113220

About KIF12

Cytogenetic location: 9q32 Genomic coordinates (GRCh38): 9:114,091,638-114,099,292 (from NCBI)

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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KIF12 Protein Structure

Kinesin

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
  • MODY

  • Maturity Onset Diabetes Mellitus In Young

  • Mason-Type Diabetes

  • Mason Type Diabetes

  • Maturity Onset Diabetes Of The Young

  • Mody Syndrome

  • Diabetes Of The Young, Maturity-Onset

Polycystic Kidney Disease
  • Polycystic Kidney Diseases

  • Pkd

  • Polycystic Renal Disease

  • Kidney Disease, Polycystic

  • Polycystic Kidney, Autosomal Dominant

Cakut
  • Renal Or Urinary Tract Malformation

  • Congenital Anomalies Of Kidney And Urinary Tract

  • Congenital Anomaly Of Kidney And Urinary Tract

  • Congenital Anomalies Of The Kidney And Urinary Tract

  • Kidney And Urinary Tract, Anomalies, Congenital

  • Renal Hypodysplasia, Nonsyndromic, 1

Cholestasis, Progressive Familial Intrahepatic, 8
  • PFIC8

Megabladder, Congenital
  • MGBL

  • Congenital Megabladder

Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
  • Autosomal Recessive Polycystic Kidney Disease

  • Arpkd

  • Polycystic Kidney Disease, Autosomal Recessive

  • Polycystic Kidney And Hepatic Disease 1

  • Pkhd1

  • PKD4

  • Polycystic Kidney Disease 4 With Or Without Hepatic Disease

  • Polycystic Kidney Disease, Infantile, Type I

  • Polycystic Kidney Disease, Infantile Type

  • Polycystic Kidney, Autosomal Recessive

  • Pkd3, Formerly

  • Polycystic Kidney Disease 4, With Or Without Hepatic Disease

  • Arpkd/Chf

  • Ar-Pkd

  • Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease

  • Infantile Polycystic Kidney Disease Type I

  • Pkd3

  • Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease

  • Polycystic Kidney Disease 3, Autosomal Dominant

Renal Cysts And Diabetes Syndrome
  • RCAD

  • Mody5

  • Congenital Anomalies Of The Kidney And Urinary Tract With Diabetes

  • Cakut With Diabetes

  • Maturity-Onset Diabetes Of The Young Type 5

  • Tubulointerstitial Kidney Disease, Autosomal Dominant, 3

  • Adtkd3

  • Atypical Familial Juvenile Hyperuricemic Nephropathy

  • Atypical Fjhn

  • Familial Hypoplastic Glomerulocystic Kidney

  • Maturity-Onset Diabetes Of The Young, Type 5

  • Hyperuricemic Nephropathy, Familial Juvenile, Atypical

  • Fjhn, Atypical

  • Glomerulocystic Kidney Disease, Hypoplastic Type

  • Glomerulocystic Kidney, Familial Hypoplastic

  • Hypoplastic Type Glomerulocystic Kidney Disease

  • Glomerulocystic Kidney Disease Hypoplastic Type

  • Renal-Diabetes Mody5 Syndrome

Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
  • Polycystic Kidney Disease 2

  • PKD2

  • Polycystic Kidney Disease, Adult, Type Ii

  • Apkd2

  • Polycystic Kidney Disease, Type 2

  • Adpkd2

  • Adult Polycystic Kidney Disease Type 2

  • Autosomal Dominant Polycystic Kidney Disease 2

  • Pkd-2

  • Polycystic Kidney Disease Adult Type Ii

  • Polycystic Kidney Type 2 Autosomal Dominant Disease

  • Kidney Disease, Polycystic, Type 2

Maturity-Onset Diabetes Of The Young, Type 3
  • Maturity-Onset Diabetes Of The Young Type 3

  • MODY3

  • Mody, Type Iii

  • Mody Type 3

  • Mody, Type 3

  • Maturity-Onset Diabetes Of The Young 3

  • Mody-3

  • Diabetes Of The Young, Maturity-Onset, Type 3

Autosomal Dominant Polycystic Kidney Disease
  • Polycystic Kidney Disease, Adult Type

  • Adpkd

  • Polycystic Kidney Diseases

  • Polycystic Kidney, Autosomal Dominant

  • Congenital Biliary Ectasias

  • Polycystic Kidney And Hepatic Disease 1

  • Polycystic Kidney Disease, Autosomal Dominant

  • Kidney, Polycystic, Disease, Autosomal Dominant

  • Adult Polycystic Kidney Disease

  • Polycystic Kidney, Adult Type

  • Apckd - [Autosomal Polycystic Kidney Disease]

Robinow Syndrome, Autosomal Dominant 2
  • Autosomal Dominant Robinow Syndrome 2

  • DRS2

  • Robinow, Autosomal Dominant Syndrome, Type 2

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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