KIF12 - kinesin family member 12 Gene

Homo sapiens

Also known as PFIC8

Gene ID: 113220 | Gene type: protein coding

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

Gene Ontology

Cellular Component

Cellular Component GO Annotation	Evidence	Reference	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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Purity	Rare Diseases
HY-RS07256	KIF12 Human Pre-designed siRNA Set A	/	Unkown
HY-RS07257	Kif12 Mouse Pre-designed siRNA Set A	/	Unkown
HY-RS07258	Kif12 Rat Pre-designed siRNA Set A	/	Unkown

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

Name
Email *

	Sorry, but the email address you supplied was invalid.