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  2. CMC4 - C-X9-C motif containing 4 Gene

CMC4 - C-X9-C motif containing 4 Gene

中文名称:含 C-X9-C 基序 4

种属: Homo sapiens

同用名: p8; C6.1B; MTCP1; MTCP1B; MTCP1NB; p8MTCP1

基因 ID: 100272147 | 基因类型: protein coding

关于 CMC4

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:155,061,622-155,071,136 (from NCBI)

This gene has 2 transcripts (splice variants) and 134 orthologues. Ubiquitous expression in heart (RPKM 14.9), fat (RPKM 9.7) and 25 other tissues.

功能概要

该基因是通过参与一些与成熟 T 细胞增殖相关的 t (X;14) 易位来鉴定的。这个区域有一个复杂的基因结构,有一个共同的启动子和 5' 外显子剪接成两组不同的 3' 外显子,编码两种不同的蛋白质。该基因代表定位于线粒体的下游 8 kDa 蛋白质。[RefSeq 提供,2009 年 3 月]

This gene was identified by involvement in some t(X;14) translocations associated with mature T-cell proliferations. This region has a complex gene structure, with a common promoter and 5' exon spliced to two different sets of 3' exons that encode two different proteins. This gene represents the downstream 8 kDa protein that localizes to mitochondria.[provided by RefSeq, Mar 2009]

CMC4 基因产物(1)

mRNA Protein Name
NM_001018024.3 NP_001018024.1 cx9C motif-containing protein 4
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 mitochondrion IDA
IDA: 通过直接分析推断
7784073 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

CMC4 蛋白结构

MTCP1

MTCP1: Mature-T-Cell Proliferation I type (4 - 65)

  • 0
  • 68 a.a.
蛋白主名 其他名称

cx9C motif-containing protein 4

C-x(9)-C motif containing 4 homolog

关联疾病

疾病名称 别名
Rhabdomyolysis-Myalgia Syndrome
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

Microcephalic Osteodysplastic Primordial Dwarfism Type Ii

Majewski Osteodysplastic Primordial Dwarfism Type Ii

MOPD2

Mopd Ii

Osteodysplastic Primordial Dwarfism Type Ii

Mopdii

Osteodysplastic Primordial Dwarfism Type 2

Osteodysplastic Primordial Dwarfism, Type Ii

Pcnt-Related Microcephalic Osteodysplastic Primordial Dwarfism

Microcephalic Osteodysplastic Primordial Dwarfism Type 2

Mopd 2

Microcephalic Osteodysplastic Primordial Dwarfism With Tooth Abnormalities

Mopd Type Ii

Microcephalic Osteodysplastic Primordial Dwarfism 2

Dwarfism, Primordial, Osteodysplastic, Microcephalic Type Ii

Moyamoya Disease 1

Moyamoya Disease

Spontaneous Occlusion Of The Circle Of Willis

Mymy

Progressive Intracranial Arterial Occlusion

Moyamoya Syndrome

MYMY1

Cerebrovascular Moyamoya Disease

Moya-Moya Disease

Progressive Intracranial Occlusive Arteropathy

Idiopathic Moyamoya Disease

Schimke Immunoosseous Dysplasia

Schimke Immuno-Osseous Dysplasia

SIOD

Immunoosseous Dysplasia, Schimke Type

Schimke Syndrome

Immunoosseous Dysplasia Schimke Type

Spondyloepiphyseal Dysplasia - Nephrotic Syndrome

Spondyloepiphyseal Dysplasia Nephrotic Syndrome

Spondyloepiphyseal Dysplasia-Nephrotic Syndrome

Cerebral Arterial Disease

Cerebral Arterial Diseases

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
Felis catus CMC4 VGNC VGNC:60997
Mus musculus CMC4 MGD MGI:5637812
Bos taurus CMC4 VGNC VGNC:27479
Rattus norvegicus CMC4 RGD RGD:7647017