1. Gene
  2. KIF12 - kinesin family member 12 Gene

KIF12 - kinesin family member 12 Gene

中文名称:驱动蛋白家族成员 12

种属: Homo sapiens

同用名: PFIC8

基因 ID: 113220 | 基因类型: protein coding

关于 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.

功能概要

该基因编码微管相关分子马达的驱动蛋白超家族的成员,其功能与微管细胞骨架相关。这个超家族的成员在细胞内运输和细胞分裂中起着重要作用。小鼠中的一种类似蛋白质在 β 细胞抗氧化信号级联中发挥作用,充当转录因子特异性蛋白 1 (Sp1) 的支架。缺乏该基因的小鼠表现出导致低胰岛素葡萄糖不耐受的 β 细胞氧化应激。[RefSeq 提供,2016 年 7 月]

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 基因产物(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
基因本体论
  • 细胞组分
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in extracellular exosome IDA
IDA: 通过直接分析推断
21082674 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

KIF12 蛋白结构

Kinesin

Kinesin: Kinesin motor domain (2 - 227)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 513 a.a.
蛋白主名 其他名称

kinesin-like protein KIF12

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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