UQCRC2 (ubiquinol-cytochrome c reductase core protein 2)

Gene

• Entrez ID: 7385
• Gene name: Ubiquinol-cytochrome c reductase core protein 2
• Gene symbol: UQCRC2
• Synonyms: MC3DN5, QCR2, UQCR2
• Chromosome: 16
• Chromosome location: 16p12.2
• Summary: The protein encoded by this gene is located in the mitochondrion, where it is part of the ubiquinol-cytochrome c reductase complex (also known as complex III). This complex constitutes a part of the mitochondrial respiratory chain. Defects in this gene ar

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT026478	hsa-miR-192-5p	Microarray	19074876
MIRT029392	hsa-miR-26b-5p	Microarray	19088304
MIRT048245	hsa-miR-196a-5p	CLASH	23622248
MIRT046254	hsa-miR-23b-3p	CLASH	23622248
MIRT1476687	hsa-miR-1303	CLIP-seq
MIRT1476688	hsa-miR-3148	CLIP-seq
MIRT1476689	hsa-miR-4256	CLIP-seq
MIRT1476690	hsa-miR-4633-5p	CLIP-seq
MIRT1476691	hsa-miR-4729	CLIP-seq
MIRT1476692	hsa-miR-4777-3p	CLIP-seq
MIRT1476693	hsa-miR-491-3p	CLIP-seq
MIRT1476694	hsa-miR-532-5p	CLIP-seq
MIRT1476695	hsa-miR-656	CLIP-seq
MIRT1476696	hsa-miR-875-3p	CLIP-seq
MIRT1555348	hsa-miR-1207-3p	CLIP-seq
MIRT1555349	hsa-miR-4307	CLIP-seq
MIRT1555350	hsa-miR-4646-5p	CLIP-seq
MIRT1555348	hsa-miR-1207-3p	CLIP-seq
MIRT2143624	hsa-miR-1285	CLIP-seq
MIRT2143625	hsa-miR-1587	CLIP-seq
MIRT2143626	hsa-miR-1976	CLIP-seq
MIRT2143627	hsa-miR-3187-5p	CLIP-seq
MIRT2143628	hsa-miR-3194-3p	CLIP-seq
MIRT2143629	hsa-miR-326	CLIP-seq
MIRT2143630	hsa-miR-330-5p	CLIP-seq
MIRT2143631	hsa-miR-378g	CLIP-seq
MIRT2143632	hsa-miR-3925-5p	CLIP-seq
MIRT2143633	hsa-miR-4486	CLIP-seq
MIRT2143634	hsa-miR-4492	CLIP-seq
MIRT2143635	hsa-miR-4498	CLIP-seq
MIRT1476690	hsa-miR-4633-5p	CLIP-seq
MIRT1555350	hsa-miR-4646-5p	CLIP-seq
MIRT2143636	hsa-miR-4656	CLIP-seq
MIRT2143637	hsa-miR-4675	CLIP-seq
MIRT1476691	hsa-miR-4729	CLIP-seq
MIRT2143638	hsa-miR-4741	CLIP-seq
MIRT1476692	hsa-miR-4777-3p	CLIP-seq
MIRT2143639	hsa-miR-486-5p	CLIP-seq
MIRT1476693	hsa-miR-491-3p	CLIP-seq
MIRT1476694	hsa-miR-532-5p	CLIP-seq
MIRT2143640	hsa-miR-612	CLIP-seq
MIRT2143641	hsa-miR-762	CLIP-seq
MIRT1555348	hsa-miR-1207-3p	CLIP-seq
MIRT1476687	hsa-miR-1303	CLIP-seq
MIRT2363832	hsa-miR-345	CLIP-seq
MIRT2363833	hsa-miR-3607-5p	CLIP-seq
MIRT1476689	hsa-miR-4256	CLIP-seq
MIRT1476690	hsa-miR-4633-5p	CLIP-seq
MIRT1555350	hsa-miR-4646-5p	CLIP-seq
MIRT1476691	hsa-miR-4729	CLIP-seq
MIRT1476693	hsa-miR-491-3p	CLIP-seq
MIRT1476694	hsa-miR-532-5p	CLIP-seq
MIRT1476695	hsa-miR-656	CLIP-seq
MIRT1555348	hsa-miR-1207-3p	CLIP-seq
MIRT1476687	hsa-miR-1303	CLIP-seq
MIRT1476688	hsa-miR-3148	CLIP-seq
MIRT1555349	hsa-miR-4307	CLIP-seq
MIRT1476690	hsa-miR-4633-5p	CLIP-seq
MIRT1555350	hsa-miR-4646-5p	CLIP-seq
MIRT1476691	hsa-miR-4729	CLIP-seq
MIRT1476692	hsa-miR-4777-3p	CLIP-seq
MIRT1476693	hsa-miR-491-3p	CLIP-seq
MIRT1476694	hsa-miR-532-5p	CLIP-seq
MIRT1476695	hsa-miR-656	CLIP-seq
MIRT1476696	hsa-miR-875-3p	CLIP-seq
MIRT1555348	hsa-miR-1207-3p	CLIP-seq
MIRT1476688	hsa-miR-3148	CLIP-seq
MIRT1555349	hsa-miR-4307	CLIP-seq
MIRT1476690	hsa-miR-4633-5p	CLIP-seq
MIRT1555350	hsa-miR-4646-5p	CLIP-seq
MIRT1476691	hsa-miR-4729	CLIP-seq
MIRT1476692	hsa-miR-4777-3p	CLIP-seq
MIRT1476693	hsa-miR-491-3p	CLIP-seq
MIRT1476694	hsa-miR-532-5p	CLIP-seq
MIRT1476696	hsa-miR-875-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	21078624, 31536960, 32814053
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005750	Component	Mitochondrial respiratory chain complex III	IDA	23168492, 31536960
GO:0005751	Component	Mitochondrial respiratory chain complex IV	IDA	23168492
GO:0006119	Process	Oxidative phosphorylation	TAS	8288258
GO:0006122	Process	Mitochondrial electron transport, ubiquinol to cytochrome c	TAS
GO:0006508	Process	Proteolysis	IEA
GO:0009060	Process	Aerobic respiration	TAS	8288258
GO:0042493	Process	Response to drug	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 191329
• HGNC: 12586
• e!Ensembl: ENSG00000140740

Protein

• UniProt ID: P22695
• Protein name: Cytochrome b-c1 complex subunit 2, mitochondrial (Complex III subunit 2) (Core protein II) (Ubiquinol-cytochrome-c reductase complex core protein 2)
• Protein function: Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complex
• PDB: 5XTE, 5XTH, 5XTI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00675	Peptidase_M16	48 → 194	Insulinase (Peptidase family M16)	Family
  PF05193	Peptidase_M16_C	199 → 378	Peptidase M16 inactive domain	Domain

• Sequence:

  MKLLTRAGSFSRFYSLKVAPKVKATAAPAGAPPQPQDLEFTKLPNGLVIASLENYSPVSR
  IGLFIKAGSRYEDFSNLGTTHLLRLTSSLTTKGASSFKITRGIEAVGGKLSVTATRENMA
  YTVECLRGDVDILMEFLLNVTTAPEFRRWEVADLQPQLKIDKAVAFQNPQTHVIENLHAA
  AYRNALANPLYCPDYRIGKVTSEELHYFVQNHFTSARMALIGLGVSHPVLKQVAEQFLNM
  RGGLGLSGAKANYRGGEIREQNGDSLVHAAFVAESAVAGSAEANAFSVLQHVLGAGPHVK
  RGSNTTSHLHQAVAKATQQPFDVSAFNASYSDSGLFGIYTISQATAAGDVIKAAYNQVKT
  IAQGNLSNTDVQAAKNKLKAGYLMSVESSECFLEEVGSQALVAGSYMPPSTVLQQIDSVA
  NADIINAAKKFVSGQKSMAASGNLGHTPFVDEL

• Sequence length: 453

Pathways

KEGG:

Oxidative phosphorylation
Metabolic pathways
Cardiac muscle contraction
Thermogenesis
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy

Reactome:

Respiratory electron transport

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs1801155, rs121908380, rs121908702, rs267606674, rs4939827, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553149467, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Mitochondrial complex deficiency	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)	rs267606829, rs267606830, rs587776513, rs121918134, rs121918135, rs121918136, rs137853192, rs137853193, rs183973249, rs137853184, rs118203929, rs267606689, rs11544803, rs63751061, rs137852863, rs1554076324, rs104894554, rs1561102614, rs267606913, rs28939714, rs104894270, rs121908571, rs121908572, rs121908573, rs28937590, rs121908575, rs121908576, rs121908577, rs121908578, rs121908579, rs121908580, rs144885874, rs587776629, rs104894630, rs121434428, rs121434429, rs1445075330, rs121908985, rs104893898, rs104893899, rs28939679, rs121912639, rs1168752295, rs104894560, rs104894555, rs104894556, rs104894557, rs387906383, rs104894705, rs121434479, rs1568985256, rs9809219, rs137852767, rs1061517, rs137852768, rs28384199, rs267606890, rs267606888, rs104894884, rs104894885, rs121913659, rs768050261, rs121913660, rs121913661, rs397515383, rs199422224, rs199592341, rs387906872, rs387906873, rs387906929, rs387906956, rs368949613, rs115532916, rs377022708, rs1586636643, rs387907070, rs387907087, rs747166010, rs387907094, rs587776904, rs387907139, rs387907199, rs397514617, rs397514618, rs587776949, rs374661051, rs879255565, rs751631278, rs552722349, rs397515447, rs372691318, rs587777004, rs776388520, rs587777041, rs587777042, rs398124308, rs794726691, rs794726692, rs587777220, rs752513525, rs587777410, rs587777433, rs142441643, rs587777784, rs587777785, rs587777787, rs606231426, rs786205436, rs765093638, rs796052056, rs201430951, rs370009373, rs377025174, rs747956412, rs757982865, rs768720209, rs757486575, rs750831299, rs863224123, rs576780935, rs863224844, rs753711253, rs149753643, rs150283105, rs869025602, rs869025603, rs869025604, rs869025605, rs531254130, rs761389904, rs876658477, rs886037835, rs141542003, rs746165168, rs878854628, rs142609245, rs573006534, rs886037857, rs150613320, rs766454175, rs752670374, rs768768823, rs749196764, rs1057516255, rs1057519073, rs1057519414, rs1057519415, rs757043077, rs768273248, rs1057519084, rs1057519085, rs1057519086, rs199683937, rs776838028, rs367956888, rs1057521059, rs199754807, rs777501387, rs150966634, rs770131276, rs1555834773, rs1085307492, rs1131691065, rs781525096, rs370411488, rs1135402749, rs151279101, rs1555338209, rs1555695342, rs1555530551, rs1555703272, rs749110767, rs1348957889, rs867410737, rs1569463838, rs758833609, rs750830935, rs1023075742, rs1554599411, rs1555745989, rs376281345, rs772294726, rs1554076306, rs1554076309, rs536758576, rs765915512, rs1555066709, rs567437692, rs1239013578, rs1554843251, rs1554843434, rs781099275, rs763006208, rs747359752, rs3210083, rs1568344751, rs1242465339, rs1568346416, rs1485032272, rs750971390, rs767543623, rs1597176845, rs138275059, rs1171276645, rs1318084629, rs1598367619, rs1598368033, rs745332456, rs778516878, rs1603223730, rs146599698, rs1321888585, rs1579936916, rs1411237396, rs1591111808, rs1592704794, rs1600305570, rs1411381518, rs1426201422, rs759254294, rs1906247824, rs770749420, rs766026673, rs1475753965, rs1970827483	23281071
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840	20882379

Unknown
Disease name	Disease term	dbSNP ID	References
Hypoglycemia	Hypoglycemia
Isolated complex iii deficiency	Isolated complex III deficiency