Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6821
Gene name Gene Name - the full gene name approved by the HGNC.
Sulfite oxidase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SUOX
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q13.2
Summary Summary of gene provided in NCBI Entrez Gene.
Sulfite oxidase is a homodimeric protein localized to the intermembrane space of mitochondria. Each subunit contains a heme domain and a molybdopterin-binding domain. The enzyme catalyzes the oxidation of sulfite to sulfate, the final reaction in the oxid
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs76537761 G>A Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs121908007 G>A Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs121908008 C>A Pathogenic Coding sequence variant, missense variant
rs121908009 G>A Pathogenic Coding sequence variant, missense variant
rs141735896 C>T Conflicting-interpretations-of-pathogenicity, benign Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT051024 hsa-miR-17-5p CLASH 23622248
MIRT551001 hsa-miR-490-3p PAR-CLIP 21572407
MIRT187727 hsa-miR-4662a-3p PAR-CLIP 21572407
MIRT551000 hsa-miR-619-3p PAR-CLIP 21572407
MIRT187720 hsa-miR-196a-5p PAR-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25910212, 32296183
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IEA
GO:0005758 Component Mitochondrial intermembrane space IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606887 11460 ENSG00000139531
Protein
UniProt ID P51687
Protein name Sulfite oxidase, mitochondrial (EC 1.8.3.1)
Protein function Catalyzes the oxidation of sulfite to sulfate, the terminal reaction in the oxidative degradation of sulfur-containing amino acids.
PDB 1MJ4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00173 Cyt-b5 86 161 Cytochrome b5-like Heme/Steroid binding domain Domain
PF00174 Oxidored_molyb 219 395 Oxidoreductase molybdopterin binding domain Domain
PF03404 Mo-co_dimer 417 544 Mo-co oxidoreductase dimerisation domain Domain
Sequence
Sequence length 545
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Sulfur metabolism
Metabolic pathways
  Sulfide oxidation to sulfate
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Sulfite Oxidase Deficiency sulfite oxidase deficiency rs773655286, rs794729211, rs1555198521, rs773937413, rs1565798380, rs747461754, rs776356158, rs121908007, rs770792767, rs121908009 N/A
Sulfocysteinuria sulfocysteinuria rs770792767, rs121908009, rs748900391, rs776356158 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma N/A N/A GWAS
Polycystic Ovary Syndrome Polycystic ovary syndrome N/A N/A GWAS
Rheumatoid arthritis Rheumatoid arthritis N/A N/A GWAS
Vitiligo Vitiligo N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis Associate 33417599
Anorexia Associate 33417599
Arthritis Rheumatoid Associate 27898717
Attention Deficit and Disruptive Behavior Disorders Associate 28629418
Brain Diseases Metabolic Inborn Associate 24968320
Depressive Disorder Major Associate 33417599
Diabetes Mellitus Type 1 Associate 22144904, 22403184
Disease Associate 33417599
Glycogen Storage Disease Type IV Associate 33402469
Heredodegenerative Disorders Nervous System Associate 33417599