AiPD: Autoinhibited Protein Database

Q9BYC2

Gene name	OXCT2 (FKSG25)
Protein name	Succinyl-CoA:3-ketoacid coenzyme A transferase 2, mitochondrial
Names	3-oxoacid CoA-transferase 2A, Testis-specific succinyl-CoA:3-oxoacid CoA-transferase, SCOT-t
Species	Homo sapiens (Human)
KEGG Pathway	hsa:64064
EC number	2.8.3.5: CoA-transferases
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

1-66 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-66 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q9BYC2

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9BYC2-F1	Predicted				AlphaFoldDB

463 variants for Q9BYC2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA339832378 rs1461927645	3	A>T		No	ClinGen TOPMed gnomAD
CA339832373 rs1265280065	3	A>V		No	ClinGen gnomAD
CA339832359 rs1279939995	6	L>R		No	ClinGen TOPMed gnomAD
rs1569825149 CA339832350	8	A>P		No	ClinGen Ensembl
CA339832339 rs1338661536	10	V>M		No	ClinGen TOPMed gnomAD
rs766449279 CA339832326 CA787700	12	G>R		No	ClinGen ExAC TOPMed gnomAD
CA339832320 rs1452781822	13	R>C		No	ClinGen gnomAD
TCGA novel	13	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1407837243 CA339832318	13	R>P		No	ClinGen TOPMed gnomAD
CA339832314 rs1318200116	14	G>W		No	ClinGen gnomAD
CA339832300 rs1384615055	16	P>R		No	ClinGen gnomAD
CA339832302 rs1233962449	16	P>S		No	ClinGen TOPMed
TCGA novel	20	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA339832274 rs1183036276	21	G>R		No	ClinGen gnomAD
rs765654788 CA787697	23	A>T		No	ClinGen ExAC gnomAD
CA20979199 rs922338899	23	A>V		No	ClinGen TOPMed gnomAD
CA339832248 rs1446644257	25	S>F		No	ClinGen gnomAD
CA787696 rs762278425	26	Q>R		No	ClinGen ExAC gnomAD
rs1354128439 CA339832228	28	C>*		No	ClinGen gnomAD
rs1246054179 CA339832224	29	A>D		No	ClinGen TOPMed gnomAD
rs564759495 CA787694	29	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs564759495 CA787693	29	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA339832220 rs1384286253	30	R>C		No	ClinGen gnomAD
CA339832219 rs1294767970	30	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA339832222 rs1384286253	30	R>S		No	ClinGen gnomAD
CA339832190 rs1326677522	33	A>G		No	ClinGen gnomAD
rs1429539839 CA339832197	33	A>P		No	ClinGen gnomAD
CA339832194 rs1429539839	33	A>T		No	ClinGen gnomAD
rs1465990194 CA339832177	34	T>S		No	ClinGen TOPMed
rs1207251299 CA339832165	35	S>N		No	ClinGen TOPMed
rs1477299851 CA339832147	36	P>L		No	ClinGen TOPMed gnomAD
CA339832153 rs1319369410	36	P>S		No	ClinGen gnomAD
rs1402852431 CA339832141	37	R>Q		No	ClinGen gnomAD
CA339832143 rs1243954596	37	R>W		No	ClinGen gnomAD
rs2636342 CA20979184	38	L>P		No	ClinGen 1000Genomes TOPMed gnomAD
rs915168621 CA20979183	39	R>C		No	ClinGen TOPMed gnomAD
CA339832100 rs1464657885	41	K>Q		No	ClinGen gnomAD
CA339832087 rs1387096824	42	F>L		No	ClinGen gnomAD
rs770622952 CA787691	44	A>E		No	ClinGen ExAC gnomAD
rs774090598 CA787692	44	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs748803196 CA787690	45	D>A		No	ClinGen ExAC gnomAD
rs777810352 CA339832015	46	P>L		No	ClinGen ExAC TOPMed gnomAD
rs777810352 CA339832018	46	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA787689 rs777810352	46	P>R		No	ClinGen ExAC TOPMed gnomAD
CA339831998 rs1223043990	48	E>*		No	ClinGen gnomAD
TCGA novel	48	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA339832001 rs1223043990	48	E>K		No	ClinGen gnomAD
CA339831992 rs1384022096	48	E>V		No	ClinGen TOPMed
rs1361539283 CA339831971	49	M>I		No	ClinGen TOPMed gnomAD
rs769600331 CA787688 CA339831982	49	M>L		No	ClinGen ExAC TOPMed
CA787687 rs748071943	53	I>V		No	ClinGen ExAC TOPMed gnomAD
CA339831909 rs1339626942	54	S>F		No	ClinGen gnomAD
CA339831907 rs1271643485	55	D>N		No	ClinGen TOPMed gnomAD
rs1330770662 CA339831873	57	A>E		No	ClinGen TOPMed
CA339831863 rs531385673	58	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs531385673 CA787683	58	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	59	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1368027709 CA339831841	60	M>V		No	ClinGen TOPMed gnomAD
rs1210839136 CA339831813	62	G>R		No	ClinGen TOPMed
rs1490006577 CA339831778	64	F>C		No	ClinGen TOPMed
CA339831786 rs1218625089	64	F>L		No	ClinGen gnomAD
TCGA novel	65	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA339831735 rs1412877130	68	G>R		No	ClinGen TOPMed
TCGA novel	71	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1169813039 CA339831696	71	E>K		No	ClinGen TOPMed gnomAD
rs1428286784 CA339831643	74	I>M		No	ClinGen TOPMed gnomAD
CA339831634 rs1199907278	75	A>G		No	ClinGen TOPMed gnomAD
rs765821949 CA339831585	80	T>N		No	ClinGen ExAC gnomAD
CA787680 rs765821949	80	T>S		No	ClinGen ExAC gnomAD
rs1203207366 CA339831582	81	R>G		No	ClinGen gnomAD
rs762247066 CA787679	82	V>M		No	ClinGen ExAC gnomAD
CA339831557 rs1322436849	84	D>E		No	ClinGen TOPMed gnomAD
CA339831563 rs1217047888	84	D>H		No	ClinGen TOPMed gnomAD
rs970824511 CA20979102	87	V>L		No	ClinGen TOPMed gnomAD
CA20979097 rs970824511	87	V>M		No	ClinGen TOPMed gnomAD
CA339831512 rs1347932734	89	S>C		No	ClinGen TOPMed gnomAD
CA339831471 rs1297020376	91	N>S		No	ClinGen gnomAD
rs1442134489 CA339831462	92	V>M		No	ClinGen TOPMed gnomAD
rs1355120329 CA339831445	93	G>D		No	ClinGen gnomAD
rs1331009198 CA339831440	94	V>M		No	ClinGen gnomAD
CA20979096 rs1012257834	95	E>K		No	ClinGen TOPMed gnomAD
rs1428914933 CA339831415	96	D>Y		No	ClinGen gnomAD
CA339831369 rs1176497399	100	G>S		No	ClinGen TOPMed gnomAD
CA339831235 rs1234075527	110	R>L		No	ClinGen TOPMed gnomAD
CA339831242 rs1448939215	110	R>S		No	ClinGen TOPMed gnomAD
rs1297116273 CA339831219	111	I>M		No	ClinGen TOPMed
rs1201254569 CA339831155	115	Y>N		No	ClinGen gnomAD
CA339831104 rs1397483750	118	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1317571478 CA339831034	121	L>Q		No	ClinGen TOPMed
rs963669157 CA20979085	122	C>Y		No	ClinGen TOPMed
CA339830947 rs1204695262	125	Q>*		No	ClinGen gnomAD
CA339830910 rs1305315212	126	Y>*		No	ClinGen gnomAD
CA339830925 rs1314248586	126	Y>H		No	ClinGen TOPMed gnomAD
CA339830900 rs1223677506	127	L>V		No	ClinGen gnomAD
CA339830873 rs1275895040	128	A>V		No	ClinGen TOPMed
rs1281328623 CA339830815	132	E>A		No	ClinGen gnomAD
CA339830823 rs1374718074	132	E>K		No	ClinGen gnomAD
rs1450590194 CA339830807	133	L>V		No	ClinGen gnomAD
CA339830743 rs1185679431	136	T>M		No	ClinGen TOPMed gnomAD
CA339830703 rs1337710216	137	P>L		No	ClinGen gnomAD
CA339830692 rs1471088785	138	Q>*		No	ClinGen gnomAD
CA339830685 rs1343152152	138	Q>P		No	ClinGen gnomAD
rs1158146351 CA339830662	139	G>C		No	ClinGen gnomAD
rs1256411434 CA339830659	139	G>D		No	ClinGen gnomAD
CA339830617 rs1209160197	141	L>P		No	ClinGen TOPMed gnomAD
rs1410137674 CA339830615	142	A>T		No	ClinGen TOPMed gnomAD
CA339830573 rs1310430658	144	R>G		No	ClinGen TOPMed gnomAD
rs1443540570 CA339830551	145	I>N		No	ClinGen TOPMed gnomAD
rs1243230358 CA339830533	146	R>C		No	ClinGen gnomAD
rs1421494895 CA339830527	146	R>H		No	ClinGen TOPMed
CA339830503 rs1228972015	147	A>V		No	ClinGen gnomAD
rs528920389 CA339830490	148	G>A		No	ClinGen 1000Genomes TOPMed gnomAD
CA20979046 rs528920389	148	G>E		No	ClinGen 1000Genomes TOPMed gnomAD
rs1484706463 CA339830486	149	G>S		No	ClinGen gnomAD
rs1334229975 CA339830477	150	A>S		No	ClinGen TOPMed
CA339830438 rs1569822851	152	V>G		No	ClinGen Ensembl
rs1259276578 CA339830425	153	P>L		No	ClinGen gnomAD
rs1016535644 CA20979040	153	P>S		No	ClinGen TOPMed
CA787674 rs770677897	154	A>T		No	ClinGen ExAC
CA339830341 rs1318012325	158	P>L		No	ClinGen gnomAD
CA20979023 rs1005518194	158	P>S		No	ClinGen TOPMed
CA339830304 rs1243859849	160	G>D		No	ClinGen gnomAD
rs1288862227 CA339830317	160	G>S		No	ClinGen TOPMed gnomAD
rs1382055282 CA339830279	161	Y>C		No	ClinGen gnomAD
CA339830234 rs1213371228	163	T>I		No	ClinGen TOPMed
CA339830151 CA20979014 rs886681041	167	E>D		No	ClinGen TOPMed gnomAD
rs1294709738 CA339830172	167	E>K		No	ClinGen gnomAD
rs1312803048 CA339830148	168	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1454749394 CA339830121	169	G>D		No	ClinGen TOPMed gnomAD
rs202241813 CA20979000	172	I>F		No	ClinGen 1000Genomes gnomAD
rs369859195 CA787673	173	R>S		No	ClinGen ExAC TOPMed gnomAD
CA339830051 rs1346891572	174	Y>F		No	ClinGen gnomAD
rs772621954 CA787672	175	T>A		No	ClinGen ExAC gnomAD
CA339830041 rs1461047056	176	P>S		No	ClinGen TOPMed
CA339830016 rs1164957086	179	H>Q		No	ClinGen TOPMed gnomAD
rs1474366961 CA339830019	179	H>R		No	ClinGen TOPMed
TCGA novel	181	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1425813129 CA339830005	181	A>V		No	ClinGen TOPMed
CA339830003 rs1426342077	182	L>V		No	ClinGen gnomAD
rs1260651072 CA339829990	183	M>I		No	ClinGen gnomAD
TCGA novel	183	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA787669 rs781045390	186	P>S		No	ClinGen ExAC gnomAD
rs781045390 CA339829973	186	P>T		No	ClinGen ExAC gnomAD
rs746799207 CA787668	187	R>*		No	ClinGen ExAC gnomAD
rs746799207 CA787667	187	R>G		No	ClinGen ExAC gnomAD
CA339829944 rs1569822304	189	V>G		No	ClinGen Ensembl
CA339829924 rs1169817281	191	E>K		No	ClinGen gnomAD
CA339829908 rs1569822253	192	F>V		No	ClinGen Ensembl
rs1319359418 CA339829880	194	G>S		No	ClinGen TOPMed
CA339829865 rs1165511309	195	D>N		No	ClinGen gnomAD
CA787665 rs758595402	196	H>R		No	ClinGen ExAC gnomAD
CA787664 rs149732909	197	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA787662 rs757305150	199	L>*		No	ClinGen ExAC gnomAD
rs757305150 CA339829813	199	L>S		No	ClinGen ExAC gnomAD
rs754360890 CA787661	201	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA339829781 rs1383003886	201	R>P		No	ClinGen gnomAD
rs756587866 CA787659	202	A>G		No	ClinGen ExAC gnomAD
rs139638488 CA787658	203	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA787656 rs762549352	205	A>S		No	ClinGen ExAC gnomAD
TCGA novel	208	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764664008 CA787654	209	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1569821948 CA339829654	211	K>N		No	ClinGen Ensembl
CA787652 rs761369477	211	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1426183486 CA339829640	212	G>V		No	ClinGen TOPMed gnomAD
rs1490323658 CA339829629	213	W>*		No	ClinGen gnomAD
CA787651 rs776613937	213	W>R		No	ClinGen ExAC gnomAD
CA787649 rs559212789	216	D>A		No	ClinGen 1000Genomes ExAC gnomAD
rs768546307 CA787650	216	D>N		No	ClinGen ExAC TOPMed gnomAD
rs775283847 CA339829585	217	R>G		No	ClinGen ExAC gnomAD
CA339829580 rs377398400	217	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA787647 rs377398400	217	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs775283847 CA787648	217	R>W		No	ClinGen ExAC gnomAD
rs746081956 CA787645	221	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA787644 rs779183881	223	F>I		No	ClinGen ExAC gnomAD
rs779183881 CA339829515	223	F>L		No	ClinGen ExAC gnomAD
CA787643 rs757347221	224	R>G		No	ClinGen ExAC TOPMed gnomAD
rs141724777 CA787641	226	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756714289 CA339829453 COSM1342575	228	R>C	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs756714289 CA787640	228	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1403508730 CA339829441	229	N>D		No	ClinGen gnomAD
rs142051286 CA787638	229	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA339829386 rs1226215860	233	P>S		No	ClinGen TOPMed gnomAD
rs1039825231 CA20978824	234	M>V		No	ClinGen TOPMed
CA339829361 rs1301334905	235	C>R		No	ClinGen TOPMed
rs1569821551 CA339829353	235	C>Y		No	ClinGen Ensembl
rs750097865 CA787636	237	A>T		No	ClinGen ExAC TOPMed gnomAD
rs138789145 CA787633	239	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761267697 CA787634	239	D>N		No	ClinGen ExAC gnomAD
rs763544435 CA787632	240	V>I		No	ClinGen ExAC gnomAD
rs145014048 CA787631	241	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA339829243 rs1369242607	244	E>Q		No	ClinGen TOPMed gnomAD
CA787629 rs771776541	245	V>G		No	ClinGen ExAC gnomAD
TCGA novel rs745672114 CA787628	247	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
rs1380118494 CA339829182	248	I>M		No	ClinGen gnomAD
rs774478441 CA787627	248	I>N		No	ClinGen ExAC gnomAD
rs774478441 CA339829184	248	I>T		No	ClinGen ExAC gnomAD
CA787626 rs771163941	249	V>G		No	ClinGen ExAC gnomAD
CA20978785 rs7542609 VAR_059134	250	E>D		No	ClinGen UniProt Ensembl dbSNP
CA339829152 rs1569821232	251	V>G		No	ClinGen Ensembl
CA20978784 rs981981449	251	V>M		No	ClinGen TOPMed gnomAD
rs1557480400 CA339829138	252	G>A		No	ClinGen Ensembl
CA339829126 rs1569821116	253	A>D		No	ClinGen Ensembl
rs1569821116 CA339829124	253	A>G		No	ClinGen Ensembl
rs748682366 CA787622	253	A>T		No	ClinGen ExAC gnomAD
rs1363766799 CA339829111	254	F>S		No	ClinGen gnomAD
rs991289372 CA20978716	255	P>S		No	ClinGen TOPMed gnomAD
CA339829083 rs755361091	256	P>L		No	ClinGen ExAC gnomAD
CA787619 rs755361091	256	P>Q		No	ClinGen ExAC gnomAD
rs756942160	256	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1441682754 CA339829088	256	P>S		No	ClinGen TOPMed gnomAD
CA339829091 rs1441682754	256	P>T		No	ClinGen TOPMed gnomAD
rs756942160	257	E>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA787615 rs370989913	258	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA787612 rs760120009	260	H>Q		No	ClinGen ExAC gnomAD
rs753447378 CA787613	260	H>Y		No	ClinGen ExAC gnomAD
CA339829042 COSM1219027 rs1386288246	261	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA339829030 rs1356572967	263	N>D		No	ClinGen TOPMed gnomAD
CA787610 rs752698927	263	N>S		No	ClinGen ExAC TOPMed gnomAD
rs759300221 CA339829018	264	I>M		No	ClinGen ExAC TOPMed gnomAD
CA787609 rs767458770	264	I>V		No	ClinGen ExAC TOPMed gnomAD
rs774219800 CA787607	265	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA787606 COSM3930778 rs112946539	267	D>G	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs763275934 CA787605	268	R>L		No	ClinGen ExAC gnomAD
rs1159718365 COSM3790011 CA339828990	269	V>M	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA787603 rs770060692	270	I>V		No	ClinGen ExAC gnomAD
TCGA novel	271	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	273	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	274	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA787602 rs781586596	275	Y>*		No	ClinGen ExAC gnomAD
CA787600 rs374774506	276	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1239476813 CA339828942	276	E>Q		No	ClinGen gnomAD
rs747422843 CA787599	277	K>E		No	ClinGen ExAC
rs376756925 CA787598	277	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA339828928 rs1262186887	278	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs553851060 CA787597	279	I>T		No	ClinGen 1000Genomes ExAC gnomAD
rs753502658 CA787596	280	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1246126994 CA339828910	281	R>C		No	ClinGen gnomAD
CA339828894 rs1569820491	283	T>M		No	ClinGen Ensembl
rs230321 VAR_059135 CA787593	285	L>R		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1326144736 CA339828881	286	K>E		No	ClinGen gnomAD
rs1299223339 CA339828874	287	E>K		No	ClinGen gnomAD
TCGA novel	289	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA787592 rs752230574	290	G>E		No	ClinGen ExAC gnomAD
rs759552796 CA787590	292	A>P		No	ClinGen ExAC gnomAD
rs759552796 CA787591	292	A>S		No	ClinGen ExAC gnomAD
CA787589 rs751388707	294	K>M		No	ClinGen ExAC gnomAD
rs762832433 CA787587	295	E>D		No	ClinGen ExAC gnomAD
rs766213944 CA787588	295	E>Q		No	ClinGen ExAC gnomAD
CA339828785 rs1424009352	300	T>A		No	ClinGen gnomAD
rs1195637652 CA339828781	300	T>R		No	ClinGen gnomAD
rs776791148 CA339828779	301	R>C		No	ClinGen ExAC TOPMed gnomAD
rs776791148 CA787584	301	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1268177212 CA339828776	301	R>H		No	ClinGen TOPMed gnomAD
rs1268177212 CA339828778	301	R>L		No	ClinGen TOPMed gnomAD
rs1268177212 CA339828777	301	R>P		No	ClinGen TOPMed gnomAD
rs776791148 CA787583	301	R>S		No	ClinGen ExAC TOPMed gnomAD
rs768577604 CA787582	302	I>V		No	ClinGen ExAC TOPMed gnomAD
CA787581 rs747554507	304	R>S		No	ClinGen ExAC TOPMed gnomAD
rs775801904 CA787580	305	R>C		No	ClinGen ExAC TOPMed gnomAD
rs200262941 CA787579	305	R>H		No	ClinGen ExAC TOPMed gnomAD
rs200262941 CA339828753	305	R>L		No	ClinGen ExAC TOPMed gnomAD
rs746200222 CA787578	306	A>S		No	ClinGen ExAC gnomAD
rs746200222 CA339828752	306	A>T		No	ClinGen ExAC gnomAD
CA787577 rs368645697	307	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	307	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1450120285 CA339828739	308	L>P		No	ClinGen TOPMed
rs755787386 CA787576	309	E>V		No	ClinGen ExAC gnomAD
CA339828730 rs1283273029	310	F>I		No	ClinGen gnomAD
rs1314179585 CA339828726	310	F>S		No	ClinGen TOPMed
CA787575 rs747716832	312	D>N		No	ClinGen ExAC gnomAD
CA20978349 rs571438719	313	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1409581104 CA339828706	313	G>D		No	ClinGen gnomAD
rs571438719 CA787573	313	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA339828695 rs1401348131	314	M>I		No	ClinGen gnomAD
TCGA novel	314	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766419653 CA787571	315	Y>*		No	ClinGen ExAC gnomAD
CA339828686 rs1479364545	316	A>T		No	ClinGen gnomAD
rs141231524 CA787570	317	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA339828670 rs1478984700	318	L>R		No	ClinGen gnomAD
rs1569819818 CA339828663	320	I>V		No	ClinGen Ensembl
TCGA novel	321	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA787566 rs762123479	322	I>M		No	ClinGen ExAC TOPMed gnomAD
rs765071983 CA787568	322	I>V		No	ClinGen ExAC
rs1390141352 CA339828644	323	P>A		No	ClinGen TOPMed gnomAD
rs776648885 CA787565	323	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1390141352 CA339828643	323	P>S		No	ClinGen TOPMed gnomAD
rs1200902417	324	L>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA787563 rs760657235	328	N>D		No	ClinGen ExAC gnomAD
CA787562 rs776130524	328	N>K		No	ClinGen ExAC gnomAD
CA339828613 rs1202165750	328	N>S		No	ClinGen TOPMed
rs746326603 CA787560	330	I>M		No	ClinGen ExAC TOPMed gnomAD
rs772545774 CA787561	330	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1195895183 CA339828564	335	T>S		No	ClinGen TOPMed
rs771222010 CA787557	336	V>A		No	ClinGen ExAC gnomAD
CA787558 rs551438359	336	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA787556 rs747854442	337	H>R		No	ClinGen ExAC TOPMed gnomAD
CA339828544 rs1405031125	338	L>R		No	ClinGen gnomAD
rs372756268 CA787555	340	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754588413 CA787554 CA20978268	343	G>R		No	ClinGen ExAC TOPMed gnomAD
CA339828511 rs1439835365	343	G>V		No	ClinGen gnomAD
CA787553 rs746466339	345	L>P		No	ClinGen ExAC gnomAD
rs1181305924 CA339828493	346	G>D		No	ClinGen gnomAD
rs1460623316 CA339828488	347	L>P		No	ClinGen TOPMed gnomAD
rs780186931 CA787552	349	P>L		No	ClinGen ExAC gnomAD
rs934982130 CA20978246	351	P>A		No	ClinGen TOPMed
rs199867641 CA787551	352	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750344149 CA787550	355	E>D		No	ClinGen ExAC
rs1409434183 CA339828420	357	D>A		No	ClinGen TOPMed gnomAD
CA339828403 rs1314452624	358	A>V		No	ClinGen gnomAD
rs1240070826 CA339828390	359	D>E		No	ClinGen TOPMed gnomAD
TCGA novel	359	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1354418055 CA339828354	362	N>S		No	ClinGen gnomAD
CA339828338 rs1433678369	363	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA339828333 rs1311596329	364	G>S		No	ClinGen gnomAD
CA339828327 rs1450657410	364	G>V		No	ClinGen TOPMed gnomAD
rs765126965 CA787549	365	K>E		No	ClinGen ExAC TOPMed gnomAD
CA787548 rs756943727	367	T>M		No	ClinGen ExAC TOPMed gnomAD
CA339828286 rs756943727	367	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1046307560 CA20978233	369	T>M		No	ClinGen TOPMed gnomAD
rs1158218392 CA339828223	373	G>E		No	ClinGen gnomAD
CA787547 rs754147501	374	G>A		No	ClinGen ExAC gnomAD
CA339828216 rs1260189999	374	G>S		No	ClinGen TOPMed
CA787546 COSM87802 rs764218330	376	F>C	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	376	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA339828163 rs1443596112	377	F>L		No	ClinGen TOPMed gnomAD
CA787545 rs200725321	378	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1569818986 CA339828118	381	D>N		No	ClinGen Ensembl
CA339828048 rs1175906064	385	M>I		No	ClinGen TOPMed
rs1265337776 CA339828067	385	M>V		No	ClinGen TOPMed gnomAD
CA339828034 rs1484406239	387	R>*		No	ClinGen gnomAD
rs1156607605 CA339828021	389	G>*		No	ClinGen TOPMed
CA339828014 rs775569937	389	G>A		No	ClinGen ExAC gnomAD
CA787544 rs775569937	389	G>V		No	ClinGen ExAC gnomAD
CA339828008 rs1488915802	390	H>D		No	ClinGen TOPMed gnomAD
rs1288223616 CA339828005	390	H>R		No	ClinGen gnomAD
rs1403834745 CA339827981	392	Q>K		No	ClinGen TOPMed
CA787543 rs767547403	394	T>I		No	ClinGen ExAC TOPMed gnomAD
CA339827958 rs1241612015	395	M>V		No	ClinGen TOPMed
rs549272179 CA787542	396	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774784408 CA787541	397	G>E		No	ClinGen ExAC TOPMed gnomAD
CA339827912 rs1230254927	398	A>G		No	ClinGen gnomAD
CA339827918 rs1569818684	398	A>T		No	ClinGen Ensembl
rs771345075 CA787540	399	M>I		No	ClinGen ExAC gnomAD
CA339827850 rs1400486013	403	K>E		No	ClinGen TOPMed gnomAD
CA787538 rs201254863	406	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA339827787 rs1368551364	408	A>T		No	ClinGen gnomAD
rs1251440536 CA339827778	408	A>V		No	ClinGen TOPMed
rs1174078938 CA339827742	410	W>*		No	ClinGen gnomAD
CA339827722 rs1166383002	411	M>I		No	ClinGen gnomAD
CA339827710 rs1426400073	412	I>T		No	ClinGen gnomAD
CA787537 rs488295	414	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA787536 rs746620472	417	V>M		No	ClinGen ExAC gnomAD
rs1425091256 CA339827628	418	K>N		No	ClinGen TOPMed
CA787535 rs779739043	418	K>R		No	ClinGen ExAC gnomAD
rs1165352866 CA339827620	419	G>C		No	ClinGen TOPMed
rs1363645953 CA339827604	420	M>T		No	ClinGen TOPMed
CA339827580 rs1488165783	422	G>S		No	ClinGen gnomAD
rs560118161 CA787534	424	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs949218260 CA20978156	425	D>Y		No	ClinGen TOPMed
CA787533 rs745811668	427	V>A		No	ClinGen ExAC gnomAD
rs916371653 CA20978139	429	S>C		No	ClinGen TOPMed
CA787532 rs539815651	429	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs539815651 CA20978128	429	S>T		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	431	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1277312024 CA339827455	432	T>A		No	ClinGen gnomAD
CA787531 rs757141719	432	T>I		No	ClinGen ExAC gnomAD
CA339827439 rs1281234369	434	V>L		No	ClinGen gnomAD
CA787529 rs777575586	435	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1305275219 CA339827430	436	V>I		No	ClinGen TOPMed
CA339827424 rs1390775409	437	T>A		No	ClinGen gnomAD
CA787528 rs148620404	438	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1460131236 CA339827410	439	Q>*		No	ClinGen gnomAD
TCGA novel	439	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA339827402 rs1353600430	440	H>N		No	ClinGen gnomAD
CA20978102 rs368208615	441	C>*		No	ClinGen ESP TOPMed gnomAD
CA787527 rs752852040	442	T>R		No	ClinGen ExAC gnomAD
rs1317696893 CA339827376	443	K>N		No	ClinGen TOPMed
rs1426253097 CA339827374	444	D>N		No	ClinGen gnomAD
rs375335072 CA787526	445	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs759601240 CA787525	446	T>I		No	ClinGen ExAC gnomAD
rs1193041955 CA339827349	447	P>L		No	ClinGen gnomAD
rs1193041955 CA339827351	447	P>R		No	ClinGen gnomAD
CA787523 rs766769354	448	K>R		No	ClinGen ExAC gnomAD
rs990656778 CA20978078	449	I>M		No	ClinGen TOPMed gnomAD
rs145089929 CA20978053	450	M>T		No	ClinGen ESP TOPMed
rs942135254 CA20978077	450	M>V		No	ClinGen TOPMed
rs1319648145 CA339827323	451	E>G		No	ClinGen gnomAD
CA787522 rs763420546	453	C>R		No	ClinGen ExAC gnomAD
CA339827308 rs1237837923	453	C>Y		No	ClinGen TOPMed
CA339827298 rs1569817811	455	M>V		No	ClinGen Ensembl
rs146244343 CA787521	456	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146244343 CA339827287	456	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1232378289 CA339827288	456	P>S		No	ClinGen TOPMed gnomAD
CA787519 rs373490630 CA339827274	459	G>R		No	ClinGen ESP ExAC gnomAD
CA339827272 rs1375679826	459	G>V		No	ClinGen gnomAD
CA339827258 rs1466866316	461	R>L		No	ClinGen gnomAD
rs775223234 CA787518	461	R>W		No	ClinGen ExAC gnomAD
CA787516 rs544321343	463	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA339827249 rs544321343 COSM909348	463	V>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA787514 rs770795728	464	D>E		No	ClinGen ExAC gnomAD
CA787515 rs779032548	464	D>N		No	ClinGen ExAC gnomAD
CA339827236 rs1355820041	465	R>C		No	ClinGen TOPMed
TCGA novel	465	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749210713 CA339827234	465	R>L		No	ClinGen ExAC gnomAD
rs749210713 CA787513	465	R>P		No	ClinGen ExAC gnomAD
rs777436275 CA787512	466	I>M		No	ClinGen ExAC gnomAD
CA339827213 rs752977074	469	E>*		No	ClinGen ExAC gnomAD
rs752977074 CA787510 COSM3400775	469	E>K	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA339827195 rs1199701175	471	A>G		No	ClinGen TOPMed gnomAD
rs1241012795 CA339827198	471	A>T		No	ClinGen gnomAD
rs1199701175 CA339827194	471	A>V		No	ClinGen TOPMed gnomAD
CA787508 rs755094827	472	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs751621137 CA339827174	474	D>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	474	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA339827171 rs1352252326	475	V>L		No	ClinGen gnomAD
TCGA novel	477	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA339827147 rs1230207615	478	K>T		No	ClinGen TOPMed gnomAD
CA339827133 rs1050917	480	E>A		No	ClinGen ExAC TOPMed gnomAD
rs765531562 CA787503	480	E>D		No	ClinGen ExAC gnomAD
rs1050917 CA787505	480	E>G		No	ClinGen ExAC TOPMed gnomAD
CA787506 rs369351852	480	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1395881804 CA339827130	481	L>M		No	ClinGen gnomAD
rs377118062 CA787502	482	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA787499 rs759166954	483	L>P		No	ClinGen ExAC gnomAD
rs767247498 CA787500	483	L>V		No	ClinGen ExAC gnomAD
CA339827115 rs373650086	484	R>K		No	ClinGen ESP TOPMed gnomAD
rs373650086 CA20977927	484	R>M		No	ClinGen ESP TOPMed gnomAD
rs1482871027 CA339827105	485	E>D		No	ClinGen TOPMed
CA339827096 rs1383686944	487	W>R		No	ClinGen gnomAD
rs1186559945 CA339827075	489	G>D		No	ClinGen gnomAD
rs1258018990 CA339827074	490	L>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs773766295 CA787498	491	T>A		No	ClinGen ExAC
rs1487934941 CA339827060	492	V>A		No	ClinGen TOPMed gnomAD
CA787496 rs143322993	493	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA787494 rs150795467	494	D>N		No	ClinGen ExAC TOPMed gnomAD
CA787493 rs747910414	495	I>S		No	ClinGen ExAC gnomAD
rs1245071354 CA339827034	496	K>R		No	ClinGen gnomAD
TCGA novel	497	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1341401210 CA339827022	498	S>G		No	ClinGen gnomAD
rs141193829 CA787491	499	T>M		No	ClinGen ExAC TOPMed gnomAD
rs779999540 CA787489	500	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1360493304 CA339827007	500	G>R		No	ClinGen TOPMed gnomAD
rs750947412 CA787487	501	C>F		No	ClinGen ExAC gnomAD
rs1277717921 CA339827004	501	C>R		No	ClinGen TOPMed
rs1162822803 CA339826997	502	A>T		No	ClinGen gnomAD
CA339826992 rs1473267061	502	A>V		No	ClinGen gnomAD
rs200253131 CA787485	504	A>P		No	ClinGen ExAC TOPMed gnomAD
CA339826972 rs754232647	506	S>P		No	ClinGen ExAC TOPMed gnomAD
rs754232647 CA787484	506	S>T		No	ClinGen ExAC TOPMed gnomAD
COSM140924 rs150126878 CA787482	507	P>S	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA787480 rs773996695	508	N>K		No	ClinGen ExAC TOPMed
CA339826958 rs1210008642	508	N>S		No	ClinGen gnomAD
rs1210008642 CA339826959	508	N>T		No	ClinGen gnomAD
rs1557479268 CA339826952	509	L>R		No	ClinGen Ensembl
CA787478 rs765862292	510	R>K		No	ClinGen ExAC gnomAD
rs773060658 CA787476	511	P>S		No	ClinGen ExAC gnomAD
CA20977741 rs17852727	514	Q>*		No	ClinGen Ensembl
CA787474 rs748025354	514	Q>H		No	ClinGen ExAC gnomAD
rs374986321 CA787472	516	A>E		No	ClinGen ExAC TOPMed gnomAD
rs374986321 CA787473	516	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1322998684 CA339826901	517	P>S		No	ClinGen gnomAD
CA339826903 rs1322998684	517	P>T		No	ClinGen gnomAD
CA339826892 rs201022411 CA787470	518	P>C		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q9BYC2

4 regional properties for Q9BYC2

Type	Name	Position	InterPro Accession
binding_site	Coenzyme A transferase binding site	55 - 70	IPR004163
active_site	Coenzyme A transferase active site	338 - 346	IPR004164
domain	3-oxoacid CoA-transferase, subunit B	298 - 504	IPR012791
domain	3-oxoacid CoA-transferase, subunit A	41 - 168	IPR012792

Functions

		Description
EC Number	2.8.3.5	CoA-transferases
Subcellular Localization	Mitochondrion
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
mitochondrial matrix	The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
motile cilium	A cilium which may have a variable arrangement of axonemal microtubules and also contains molecular motors. It may beat with a whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface, such as on epithelial cells that line the lumenal ducts of various tissues; or they may display a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization. Motile cilia can be found in single as well as multiple copies per cell.

2 GO annotations of molecular function

Name	Definition
3-oxoacid CoA-transferase activity	Catalysis of the reaction: succinyl-CoA + a 3-oxo acid = succinate + a 3-oxo-acyl-CoA.
CoA-transferase activity	Catalysis of the transfer of a coenzyme A (CoA) group from one compound (donor) to another (acceptor).

2 GO annotations of biological process

Name	Definition
cellular ketone body metabolic process	The chemical reactions and pathways involving ketone bodies, any one of the three substances: acetoacetate, D-3-hydroxybutyrate (beta-hydroxybutyrate) or acetone, as carried out by individual cells. Although 3-hydroxybutyrate is not a ketone, it is classed as a ketone body because it exists in an equilibrium with acetoacetate. Ketone bodies may accumulate in excessive amounts in the body in starvation, diabetes mellitus or in other defects of carbohydrate metabolism.
ketone body catabolic process	The chemical reactions and pathways resulting in the breakdown of ketone bodies, any one of the three substances: acetoacetate, D-3-hydroxybutyrate (beta-hydroxybutyrate) or acetone. Ketone bodies can be used as an energy source as an alternative to glucose. Utilization of ketone bodies in peripheral tissues involves conversion of acetoacetate to acetoacetyl-CoA, which is then converted to two molecules of acetyl-CoA.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P55809	OXCT1	Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial	Homo sapiens (Human)	PR
Q5XIJ9	Oxct2a	Succinyl-CoA:3-ketoacid coenzyme A transferase 2A, mitochondrial	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MAALRLLASV	LGRGVPAGGS	GLALSQGCAR	CFATSPRLRA	KFYADPVEMV	KDISDGATVM
70	80	90	100	110	120
IGGFGLCGIP	ENLIAALLRT	RVKDLQVVSS	NVGVEDFGLG	LLLAARQVRR	IVCSYVGENT
130	140	150	160	170	180
LCESQYLAGE	LELELTPQGT	LAERIRAGGA	GVPAFYTPTG	YGTLVQEGGA	PIRYTPDGHL
190	200	210	220	230	240
ALMSQPREVR	EFNGDHFLLE	RAIRADFALV	KGWKADRAGN	VVFRRSARNF	NVPMCKAADV
250	260	270	280	290	300
TAVEVEEIVE	VGAFPPEDIH	VPNIYVDRVI	KGQKYEKRIE	RLTILKEEDG	DAGKEEDART
310	320	330	340	350	360
RIIRRAALEF	EDGMYANLGI	GIPLLASNFI	SPSMTVHLHS	ENGILGLGPF	PTEDEVDADL
370	380	390	400	410	420
INAGKQTVTV	LPGGCFFASD	DSFAMIRGGH	IQLTMLGAMQ	VSKYGDLANW	MIPGKKVKGM
430	440	450	460	470	480
GGAMDLVSSQ	KTRVVVTMQH	CTKDNTPKIM	EKCTMPLTGK	RCVDRIITEK	AVFDVHRKKE
490	500	510
LTLRELWEGL	TVDDIKKSTG	CAFAVSPNLR	PMQQVAP