CMC4 - C-X9-C motif containing 4 Gene

Also Known as p8; C6.1B; MTCP1; MTCP1B; MTCP1NB; p8MTCP1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 100272147

About 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.

Summary

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 Products (1)

mRNA Protein Name
NM_001018024.3 NP_001018024.1 cx9C motif-containing protein 4
Cellular Component GO Annotation Evidence References Source
located in mitochondrion IDA
IDA: Inferred from direct assay
7784073 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

CMC4 Protein Structure

MTCP1

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

  • 0
  • 68 a.a.
Protein Preferred Names Protein Names

cx9C motif-containing protein 4

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

Related Diseases

Diseases Alias
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

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