1. Gene
  2. MRPS2 - mitochondrial ribosomal protein S2 Gene

MRPS2 - mitochondrial ribosomal protein S2 Gene

Homo sapiens

Also known as S2mt; CGI-91; MRP-S2; COXPD36

Gene ID: 51116 | Gene type: protein coding

About MRPS2

Cytogenetic location: 9q34.3 Genomic coordinates (GRCh38): 9:135,499,965-135,504,673 (from NCBI)

This gene has 8 transcripts (splice variants), 204 orthologues and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 13.4), ovary (RPKM 10.7) and 25 other tissues.

Summary

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S2 family. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]

MRPS2 Products(2)

mRNA Protein Name
NM_001371401.1 NP_001358330.1 28S ribosomal protein S2, mitochondrial
NM_016034.5 NP_057118.1 28S ribosomal protein S2, mitochondrial

MRPS2 Protein Structure

Ribosomal_S2

Ribosomal_S2: Ribosomal protein S2 (84 - 180)

Ribosomal_S2

Ribosomal_S2: Ribosomal protein S2 (185 - 260)

  • 0
  • 100
  • 200
  • 296 a.a.
Protein Preferred Names Protein Names

28S ribosomal protein S2, mitochondrial

mitochondrial small ribosomal subunit protein uS2m

Related Diseases

Diseases Alias
Combined Oxidative Phosphorylation Deficiency 36

COXPD36

Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly

Asphyxiating Thoracic Dystrophy 2

SRTD2

Atd2

Jatd

Jeune Asphyxiating Thoracic Dystrophy

Jeune Syndrome 2

Hypoglycemia

Hypoglycaemia

Low Blood Sugar

Hypoglycaemia Nos

Spontaneous Hypoglycaemia

Nondiabetic Hypoglycaemia

Hypoglycaemic Disorder Nos

Hypoglycaemic Syndrome

Combined Oxidative Phosphorylation Deficiency
Combined Oxidative Phosphorylation Deficiency 9

COXPD9

Combined Oxidative Phosphorylation Defect Type 9

Combined Oxidative Phosphorylation Deficiency, Type 9

Brain Glioblastoma Multiforme

Brain Glioblastoma

Glioblastoma Multiforme Of Brain

Glioblastoma Nos

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
Bos taurus MRPS2 VGNC VGNC:31660
Macaca mulatta MRPS2 VGNC VGNC:74761
Mus musculus MRPS2 MGD MGI:2153089
Canis familiaris MRPS2 VGNC VGNC:54332
Felis catus MRPS2 VGNC VGNC:63617
Rattus norvegicus MRPS2 RGD RGD:1309116