Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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6821 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Sulfite oxidase |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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SUOX |
SynonymsGene synonyms aliases
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- |
ChromosomeChromosome number
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12 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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12q13.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
SNPsSNP information provided by dbSNP.
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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 |
rs144064367 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs202085145 |
G>T |
Benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
rs747461754 |
C>G |
Pathogenic |
Coding sequence variant, stop gained |
rs748900391 |
TG>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs770792767 |
G>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs773937413 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs776356158 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs781081194 |
C>A,T |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs794729211 |
T>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1555198521 |
G>-,GG |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1565798380 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1565799723 |
CG>AC |
Pathogenic |
Missense variant, coding sequence variant |
rs1565799921 |
C>T |
Pathogenic-likely-pathogenic |
Missense variant, coding sequence variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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
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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 |
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Sequence |
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Sequence length |
545 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Arthritis |
Juvenile arthritis |
rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 |
26301688 |
Autoimmune diseases |
Autoimmune Diseases, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 |
rs41285370, rs869025224 |
26301688 |
Common variable immunodeficiency |
Common Variable Immunodeficiency |
rs72553883, rs121908379, rs104894650, rs587776775, rs398122863, rs398122864, rs397514332, rs397514331, rs727502786, rs727502787, rs72553882, rs869320688, rs869320689, rs869320754, rs773694113, rs1553319504, rs201017642, rs1555550717, rs1558192723, rs1030733127, rs749636258, rs185689791, rs1559035937, rs1565214594, rs1560679469, rs1560711146, rs1569376229, rs1578790573, rs939459600, rs1572952530, rs1572950925, rs772481080, rs369363360, rs72553885, rs72553879, rs1265262160, rs1303637368, rs757598952, rs1016142312, rs1578771120, rs1578771197, rs1578793298, rs1578793312, rs1578809101, rs1578811073, rs1590715754, rs144718007, rs759649059, rs1723945421, rs2061279365 |
26301688 |
Developmental delay |
Global developmental delay |
rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074 |
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Diabetes mellitus |
Diabetes Mellitus, Insulin-Dependent |
rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261 |
26301688 |
Ectopia lentis |
Ectopia Lentis |
rs118203985, rs137854464, rs137854480, rs587776927, rs199473693, rs794726688, rs368482584, rs794726689, rs747160538, rs397514558, rs397515793, rs757318536, rs781691587, rs363806 |
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Psoriasis |
Psoriasis |
rs281875215, rs587777763, rs281875213, rs281875212 |
26301688 |
Rheumatoid arthritis |
Rheumatoid Arthritis |
rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212 |
24390342, 30423114 |
Sulfite oxidase deficiency |
Sulfite oxidase deficiency |
rs121908007, rs121908009, rs398122797, rs121908605, rs398122799, rs121908606, rs121908607, rs121908608, rs121908609, rs397518417, rs397518418, rs397518419, rs104893969, rs141982812, rs397518420, rs794729211, rs146075796, rs1554028123, rs1555198521, rs773937413, rs772575104, rs1562085332, rs1565798380, rs747461754, rs776356158, rs1595241291, rs372246702, rs770792767, rs1273139451, rs1767224356, rs2082439915, rs773655286, rs2066910297 |
9050047, 9600976, 16140720, 27289259, 12112661, 28725568, 28980090, 15952210 |
Sulfocysteinuria |
Sulfocysteinuria |
rs121908009, rs748900391, rs776356158, rs770792767 |
10519592, 9428520, 9600976, 12368985, 12112661, 23994568, 15952210, 24938149, 28629418 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Ankylosing spondylitis |
Ankylosing spondylitis |
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26301688 |
Anxiety disorder |
Anxiety Disorders |
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Autoimmune thyroiditis |
Autoimmune thyroiditis |
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26301688 |
Celiac disease |
Celiac Disease |
rs2305764, rs35218876 |
26301688 |
Choreoathetosis |
Choreoathetosis |
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Crohn disease |
Crohn Disease |
rs2066847, rs2066844, rs886052047, rs5743265, rs111608429, rs104895438 |
26301688 |
Eczema |
Eczema |
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Isolated sulfite oxidase deficiency |
Isolated sulfite oxidase deficiency |
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Lupus erythematosus |
Lupus Erythematosus, Systemic |
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26301688 |
Respiratory tract diseases |
Respiratory Tract Diseases |
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30595370 |
Spinocerebellar degeneration |
Spinocerebellar Degeneration |
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Ulcerative colitis |
Ulcerative Colitis |
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26301688 |
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