TTC19 (tetratricopeptide repeat domain 19)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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54902 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Tetratricopeptide repeat domain 19 |
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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TTC19 |
SynonymsGene synonyms aliases
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2010204O13Rik, MC3DN2 |
ChromosomeChromosome number
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17 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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17p12 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes a protein with a tetratricopeptide repeat (TPR) domain containing several TPRs of about 34 aa each. These repeats are found in a variety of organisms including bacteria, fungi and plants, and are involved in a variety of functions includ |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs147111211 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Missense variant, genic downstream transcript variant, coding sequence variant |
rs387907094 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
rs747166010 |
T>G |
Pathogenic |
Coding sequence variant, stop gained |
rs794726691 |
GGCT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs794726692 |
C>T |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained |
rs1187416161 |
T>A,C |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1555530551 |
G>T |
Pathogenic |
Stop gained, genic downstream transcript 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 |
Q6DKK2 |
Protein name |
Tetratricopeptide repeat protein 19, mitochondrial (TPR repeat protein 19) |
Protein function |
Required for the preservation of the structural and functional integrity of mitochondrial respiratory complex III by allowing the physiological turnover of the Rieske protein UQCRFS1 (PubMed:21278747, PubMed:28673544). Involved in the clearance |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF13424 |
TPR_12 |
244 → 311 |
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Repeat |
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Sequence |
MFRLLSWSLGRGFLRAAGRRCRGCSARLLPGLAGGPGPEVQVPPSRVAPHGRGPGLLPLL AALAWFSRPAAAEEEEQQGADGAAAEDGADEAEAEIIQLLKRAKLSIMKDEPEEAELILH DALRLAYQTDNKKAITYTYDLMANLAFIRGQLENAEQLFKATMSYLLGGGMKQEDNAIIE ISLKLASIYAAQNRQEFAVAGYEFCISTLEEKIEREKELAEDIMSVEEKANTHLLLGMCL DACARYLLFSKQPSQAQRMYEKALQISEEIQGERHPQTIVLMSDLATTLDAQGRFDEAYI YMQRASDLARQINHPELHMVLSNLAAVLMHRERYTQAKEIYQEALKQAKLKKDEISVQHI REELAELSKKSRPLTNSVKL
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Sequence length |
380 |
Interactions |
View interactions |
Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Apraxia |
Apraxias |
rs121908377, rs121908378, rs1135401820, rs1178491246, rs1584969672 |
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Leigh syndrome |
Leigh Disease, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, Leigh Syndrome Due To Mitochondrial Complex II Deficiency, Leigh Syndrome due to Mitochondrial Complex III Deficiency, Leigh Syndrome due to Mitochondrial Complex IV Deficiency, Leigh Syndrome due to Mitochondrial Complex V Deficiency |
rs267606829, rs137852863, rs121908577, rs1445075330, rs121908985, rs104893898, rs28939679, rs104894705, rs1568985256, rs199476144, rs199474672, rs118192098, rs118192100, rs199476133, rs199476135, rs199476138, rs267606614, rs207459999, rs199476104, rs199476105, rs199476107, rs199476109, rs267606893, rs267606897, rs28384199, rs267606890, rs199476117, rs267606891, rs267606889, rs199476118, rs199476123, rs121918657, rs28933402, rs782316919, rs121913659, rs768050261, rs121913660, rs121913661, rs201431517, rs1556423632, rs587776949, rs201889294, rs398123061, rs398124308, rs587776434, rs587776438, rs587776440, rs1556423547, rs587776497, rs587776498, rs797045055, rs375169579, rs782490558, rs782190413, rs863224228, rs863224229, rs757486575, rs750831299, rs863224926, rs864309500, rs761389904, rs147816470, rs150613320, rs782623477, rs782007828, rs782349178, rs1057517942, rs199683937, rs1057521059, rs1057520688, rs781948238, rs782024654, rs782289759, rs1131692037, rs1161932777, rs1242159511, rs773850151, rs1553997617, rs1554768246, rs1410388157, rs1554059248, rs1554062427, rs1267554976, rs1391748504, rs376281345, rs772294726, rs1554768333, rs149718203, rs536758576, rs1555066709, rs1053850536, rs1564349176, rs782061187, rs762620949, rs1219762677, rs761097220, rs747359752, rs782609482, rs1229474296, rs782682492, rs1564349087, rs1588688823, rs1588691786, rs1603222000, rs1603223363, rs1603224017, rs1603220522, rs1603221804, rs1603222011, rs1603222119, rs1574663066, rs778120270, rs1574675683, rs1559047521, rs747249702, rs1244071473, rs1588693841, rs746519257, rs1591111808, rs766830864, rs1363125797, rs1836430953 |
29961508, 28673544, 25887401, 25613900, 24397319, 21278747, 25772319, 25452764, 25772319, 29961508, 24397319, 21278747, 25613900, 28673544, 25452764, 25887401, 28673544, 25887401, 29961508, 25772319, 24397319, 25452764, 21278747, 25613900, 21278747, 25887401, 29961508, 25452764, 24397319, 25613900, 28673544, 25772319, 21278747, 25613900, 24397319, 28673544, 25887401, 25452764, 29961508, 25772319, 24397319, 25887401, 21278747, 25772319, 29961508, 28673544, 25452764, 25613900 |
Mitochondrial complex deficiency |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2, 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 |
27604308, 21278747 |
Nystagmus |
Nystagmus |
rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Anxiety disorder |
Anxiety |
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Cerebellar atrophy |
Cerebellar atrophy |
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Cerebral atrophy |
Cerebral atrophy |
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Degenerative diseases, central nervous system |
Degenerative Diseases, Central Nervous System, Degenerative Diseases, Spinal Cord |
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21278747 |
Dysarthria |
Dysarthria |
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Gait disturbance |
Gait Disorders, Neurologic |
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21278747 |
Hallucinations |
Hallucinations |
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Impaired cognition |
Impaired cognition |
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Isolated complex iii deficiency |
Isolated complex III deficiency |
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Mental depression |
Depressive disorder |
rs587778876, rs587778877 |
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Mitochondrial diseases |
Mitochondrial Diseases |
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27604308 |
Necrotizing encephalomyelopathy |
Necrotizing encephalopathy, infantile subacute, of Leigh |
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24397319, 25613900, 28673544, 21278747, 25887401, 29961508, 25452764, 25772319 |
Nervous system disorder |
nervous system disorder |
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21278747 |
Neurodegenerative disorders |
Neurodegenerative Disorders |
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21278747 |
Obsessive-compulsive disorder |
Obsessive compulsive behavior |
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Olivopontocerebellar atrophies |
Olivopontocerebellar Atrophies |
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Psychosis |
Psychotic Disorders |
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Subfertility |
Subfertility |
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21278747 |
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