1. Gene
  2. RPS12 - ribosomal protein S12 Gene

RPS12 - ribosomal protein S12 Gene

Homo sapiens

Also known as S12

Gene ID: 6206 | Gene type: protein coding

About RPS12

Cytogenetic location: 6q23.2 Genomic coordinates (GRCh38): 6:132,814,569-132,817,564 (from NCBI)

This gene has 2 transcripts (splice variants) and 191 orthologues. Ubiquitous expression in ovary (RPKM 1633.0), bone marrow (RPKM 1134.0) and 25 other tissues.

Summary

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S12E family of ribosomal proteins. It is located in the cytoplasm. Increased expression of this gene in colorectal cancers compared to matched normal colonic mucosa has been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]

RPS12 Products(1)

mRNA Protein Name
NM_001016.4 NP_001007.2 40S ribosomal protein S12

RPS12 Protein Structure

Ribosomal_L7Ae

Ribosomal_L7Ae: Ribosomal protein L7Ae/L30e/S12e/Gadd45 family (17 - 110)

  • 0
  • 100
  • 132 a.a.
Protein Preferred Names Protein Names

40S ribosomal protein S12

small ribosomal subunit protein eS12

Related Diseases

Diseases Alias
Neuronopathy, Distal Hereditary Motor, Type Viii

Autosomal Dominant Congenital Benign Spinal Muscular Atrophy

HMN8

Dhmn8

Neuropathy, Distal Hereditary Motor, Type Viii

Distal Hereditary Motor Neuronopathy Type 8

Autosomal Dominant Benign Distal Spinal Muscular Atrophy

Congenital Benign Spinal Muscular Atrophy With Contractures

Congenital Nonprogressive Spinal Muscular Atrophy

Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

Spinal Muscular Atrophy, Congenital Benign, With Contractures

Distal Hereditary Motor Neuropathy Type Viii

Neuronopathy, Distal Hereditary Motor, 8

Distal Spinal Muscular Atrophy, Congenital Non-Progressive

Spinal Muscular Atrophy Congenital Benign With Contractures

Mycobacterium Tuberculosis 1

Tuberculosis

Tuberculoma

Tuberculosis, Susceptibility To

Mycobacterium Tuberculosis, Susceptibility To, 1

Mtbs1

TB

Multidrug-Resistant Tuberculosis

Tuberculosis, Multidrug-Resistant

Tuberculosis Multidrug-Resistant

Male Infertility

Infertility, Male

Infertility Male

Male Sterility

Absolute Infertility

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
Canis familiaris RPS12 VGNC VGNC:45730
Mus musculus RPS12 MGD MGI:98105
Bos taurus RPS12 VGNC VGNC:56365
Rattus norvegicus RPS12 RGD RGD:62024