Gene Gene information from NCBI Gene database.
Entrez ID 253827
Gene name Methionine sulfoxide reductase B3
Gene symbol MSRB3
Synonyms (NCBI Gene)
DFNB74
Chromosome 12
Chromosome location 12q14.3
Summary The protein encoded by this gene catalyzes the reduction of methionine sulfoxide to methionine. This enzyme acts as a monomer and requires zinc as a cofactor. Several transcript variants encoding two different isoforms have been found for this gene. One o
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs144038296 C>A,T Conflicting-interpretations-of-pathogenicity Missense variant, genic downstream transcript variant, coding sequence variant
rs149258390 C>A,T Pathogenic Synonymous variant, intron variant, stop gained, coding sequence variant
rs201306709 G>A Likely-pathogenic, not-provided Genic downstream transcript variant, splice acceptor variant
rs387907088 T>G Pathogenic Missense variant, coding sequence variant
rs751906778 G>A Pathogenic Splice acceptor variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
231
miRTarBase ID miRNA Experiments Reference
MIRT022224 hsa-miR-124-3p Microarray 18668037
MIRT026193 hsa-miR-192-5p Microarray 19074876
MIRT656117 hsa-miR-6858-3p HITS-CLIP 23824327
MIRT656116 hsa-miR-4676-5p HITS-CLIP 23824327
MIRT656115 hsa-miR-575 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 32296183, 32814053
GO:0005737 Component Cytoplasm IBA
GO:0005739 Component Mitochondrion IDA 14699060
GO:0005739 Component Mitochondrion IEA
GO:0005783 Component Endoplasmic reticulum IDA 14699060
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613719 27375 ENSG00000174099
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IXL7
Protein name Methionine-R-sulfoxide reductase B3 (MsrB3) (EC 1.8.4.12) (EC 1.8.4.14)
Protein function Catalyzes the reduction of free and protein-bound methionine sulfoxide to methionine. Isoform 2 is essential for hearing.
PDB 6QA0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01641 SelR 49 168 SelR domain Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:15914630, ECO:0000269|PubMed:21185009}.
Sequence
Sequence length 192
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Protein repair
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
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
Autosomal recessive nonsyndromic hearing loss 74 Likely pathogenic; Pathogenic rs2136722469, rs949229098, rs774879831, rs387907088, rs149258390, rs751906778 RCV001823225
RCV001782462
RCV004018020
RCV000024049
RCV000024050
View all (1 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hearing loss Likely pathogenic rs201306709 RCV000509391
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal recessive Pathogenic rs387907088 RCV001291459
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic deafness Likely pathogenic rs201306709 RCV000216815
★★★★☆
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
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 74 CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
★★☆☆☆
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
Alzheimer Disease Alzheimer disease Pubtator 30775993 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 28777754, 30775993
★☆☆☆☆
Found in Text Mining only
Autosomal recessive non-syndromic sensorineural deafness type DFNB Non-Syndromic Sensorineural Deafness Orphanet
★☆☆☆☆
Found in Text Mining only
Brain Infarction Brain infarction Pubtator 30775993 Associate
★☆☆☆☆
Found in Text Mining only
Brain Injuries Brain injuries Pubtator 30775993 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 28394329
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 30775993
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 31612001
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 31612001
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Colonic neoplasm Pubtator 37884639 Associate
★☆☆☆☆
Found in Text Mining only