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  2. CKMT2 - creatine kinase, mitochondrial 2 Gene

CKMT2 - creatine kinase, mitochondrial 2 Gene

中文名称:肌酸激酶,线粒体 2

种属: Homo sapiens

同用名: SMTCK

基因 ID: 1160 | 基因类型: protein coding

关于 CKMT2

Cytogenetic location: 5q14.1 Genomic coordinates (GRCh38): 5:81,233,322-81,266,398 (from NCBI)

This gene has 12 transcripts (splice variants), 264 orthologues and 4 paralogues. Biased expression in heart (RPKM 295.9) and prostate (RPKM 10.7).

功能概要

线粒体肌酸激酶 (MtCK) 负责将高能磷酸盐从线粒体转移到胞质载体肌酸。它属于肌酸激酶同工酶家族。它以两种同工酶形式存在,即肌节 MtCK 和普遍存在的 MtCK,由不同的基因编码。线粒体肌酸激酶以两种不同的寡聚形式存在:二聚体和八聚体,与完全二聚的胞质肌酸激酶同工酶形成对比。肌节线粒体肌酸激酶与普遍存在的线粒体肌酸激酶的编码外显子具有 80% 的同源性。该基因包含与一些编码线粒体蛋白的核基因共享的几个基序同源的序列,因此可能对线粒体生物发生过程中这些基因的协调激活至关重要。已发现该基因的三个转录变体编码相同的蛋白质。[RefSeq 提供,2008 年 7 月]

Mitochondrial creatine kinase (MtCK) is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Sarcomeric mitochondrial creatine kinase has 80% homology with the coding exons of ubiquitous mitochondrial creatine kinase. This gene contains sequences homologous to several motifs that are shared among some nuclear genes encoding mitochondrial proteins and thus may be essential for the coordinated activation of these genes during mitochondrial biogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

CKMT2 基因产物(3)

mRNA Protein Name
NM_001099735.2 NP_001093205.1 creatine kinase S-type, mitochondrial precursor
NM_001099736.2 NP_001093206.1 creatine kinase S-type, mitochondrial precursor
NM_001825.3 NP_001816.2 creatine kinase S-type, mitochondrial precursor

CKMT2 蛋白结构

ATP-gua_PtransN

ATP-gua_PtransN: ATP:guanido phosphotransferase, N-terminal domain (55 - 134)

ATP-gua_Ptrans

ATP-gua_Ptrans: ATP:guanido phosphotransferase, C-terminal catalytic domain (155 - 401)

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  • 419 a.a.
蛋白主名 其他名称

creatine kinase S-type, mitochondrial

S-MtCK

关联疾病

疾病名称 别名
Cardiomyopathy, Dilated, 1gg

Dilated Cardiomyopathy 1gg

CMD1GG

Cardiomyopathy, Dilated 1gg

Cardiomyopathy, Dilated, Type 1gg

Prostate Rhabdomyosarcoma

Rhabdomyosarcoma Of The Prostate

Mitochondrial Myopathy

Mitochondrial Myopathies

Mitochondrial Cytopathy

Myopathies In Mitochondrial Disorders

Dressler'S Syndrome

Dressler Syndrome

Postmyocardial Infarction Syndrome

Donath-Landsteiner Hemolytic Anemia

Post-Myocardial Infarction Syndrome

Postmyocardial Infarction Pericarditis

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
Canis familiaris CKMT2 VGNC VGNC:39292
Mus musculus CKMT2 MGD MGI:1923972
Rattus norvegicus CKMT2 RGD RGD:61977
Bos taurus CKMT2 VGNC VGNC:27386
Macaca mulatta CKMT2 VGNC VGNC:71231
Felis catus CKMT2 VGNC VGNC:60915
Others CKMT2 NCBI