Gene Gene information from NCBI Gene database.
Entrez ID 63931
Gene name Mitochondrial ribosomal protein S14
Gene symbol MRPS14
Synonyms (NCBI Gene)
COXPD38DJ262D12.2HSMRPS14MRP-S14S14mtuS14m
Chromosome 1
Chromosome location 1q25.1
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% prot
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs990763738 G>A Pathogenic Coding sequence variant, missense variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
369
miRTarBase ID miRNA Experiments Reference
MIRT022038 hsa-miR-128-3p Microarray 17612493
MIRT025159 hsa-miR-181a-5p Microarray 17612493
MIRT031807 hsa-miR-16-5p Proteomics 18668040
MIRT708036 hsa-miR-6732-3p HITS-CLIP 21572407
MIRT708035 hsa-miR-10a-5p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22681889
GO:0003735 Function Structural constituent of ribosome IBA
GO:0003735 Function Structural constituent of ribosome IEA
GO:0003735 Function Structural constituent of ribosome TAS 10938081
GO:0005515 Function Protein binding IPI 32814053
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611978 14049 ENSG00000120333
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60783
Protein name Small ribosomal subunit protein uS14m (28S ribosomal protein S14, mitochondrial) (MRP-S14) (S14mt)
PDB 3J9M , 6NU2 , 6NU3 , 6RW4 , 6RW5 , 6VLZ , 6VMI , 6ZM5 , 6ZM6 , 6ZS9 , 6ZSA , 6ZSB , 6ZSC , 6ZSD , 6ZSE , 6ZSG , 7A5F , 7A5G , 7A5I , 7A5K , 7L08 , 7OG4 , 7P2E , 7PNX , 7PNY , 7PNZ , 7PO0 , 7PO1 , 7PO2 , 7PO3 , 7QI4 , 7QI5 , 7QI6 , 8ANY , 8CSP , 8CSQ , 8CSR , 8CSS , 8CST , 8CSU , 8K2A , 8OIR , 8OIS , 8QRK , 8QRL , 8QRM , 8QRN , 8RRI , 8XT0 , 8XT2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00253 Ribosomal_S14 74 127 Ribosomal protein S14p/S29e Family
Sequence
MAAFMLGSLLRTFKQMVPSSASGQVRSHYVDWRMWRDVKRRKMAYEYADERLRINSLRKN
TILPKILQDVADEEIAALPRDSCPVRIRNRCVMTSRPRGVKRRWRLSRIVFRHLADHGQL
SGIQRAT
W
Sequence length 128
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ribosome   Mitochondrial translation elongation
Mitochondrial translation termination
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Combined oxidative phosphorylation deficiency 38 Likely pathogenic; Pathogenic rs990763738 RCV000766271
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ENDOMETRIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
KERATOCONUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MRPS14-related disorder Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acidosis Lactic Lactic acidosis Pubtator 30358850 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy Hypertrophic Hypertrophic cardiomyopathy Pubtator 30358850 Associate
★☆☆☆☆
Found in Text Mining only
Congenital Abnormalities Congenital abnormalities Pubtator 30358850 Associate
★☆☆☆☆
Found in Text Mining only
Cytochrome c Oxidase Deficiency Cytochrome c oxidase deficiency Pubtator 30358850 Associate
★☆☆☆☆
Found in Text Mining only
Global developmental delay Developmental Delay HPO_DG
★☆☆☆☆
Found in Text Mining only
Growth Disorders Growth disorder Pubtator 30358850 Associate
★☆☆☆☆
Found in Text Mining only
Hypertrophic Cardiomyopathy Hypertrophic cardiomyopathy BEFREE 30358850
★☆☆☆☆
Found in Text Mining only
Hypertrophic Cardiomyopathy Hypertrophic cardiomyopathy HPO_DG
★☆☆☆☆
Found in Text Mining only
Hypertrophic obstructive cardiomyopathy Hypertrophic cardiomyopathy BEFREE 30358850
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Mental retardation BEFREE 30358850
★☆☆☆☆
Found in Text Mining only