AiPD: Autoinhibited Protein Database

Q8N8R5

Gene name	C2orf69
Protein name	Mitochondrial protein C2orf69
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:205327
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

187-262 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

187-262 (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 Q8N8R5

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8N8R5-F1	Predicted				AlphaFoldDB

290 variants for Q8N8R5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001090653 RCV001533283 rs2077262520	100	Q>missing	Combined oxidative phosphorylation deficiency 53 [ClinVar]	Yes	ClinVar dbSNP
CA63782639 rs1022407764	2	W>*		No	ClinGen TOPMed gnomAD
CA350224138 rs1234866068	2	W>C		No	ClinGen gnomAD
CA63782647 rs1022407764	2	W>L		No	ClinGen TOPMed gnomAD
CA350224129 rs1022407764	2	W>S		No	ClinGen TOPMed gnomAD
rs1270912693 CA350224146	3	G>A		No	ClinGen gnomAD
CA2046252 rs758737747	3	G>R		No	ClinGen ExAC
CA350224185 rs1355186751	5	R>S		No	ClinGen TOPMed gnomAD
CA350224189 rs1205242102	6	L>F		No	ClinGen gnomAD
rs975636316 CA63782663	6	L>P		No	ClinGen TOPMed gnomAD
CA350224220 rs1449288570	8	R>W		No	ClinGen gnomAD
rs896102238 CA63782670	9	S>L		No	ClinGen TOPMed gnomAD
rs1192141425 CA350224236	9	S>P		No	ClinGen gnomAD
rs1167487895 CA350224249	10	P>A		No	ClinGen gnomAD
rs778131370 CA2046253	11	P>L		No	ClinGen ExAC TOPMed gnomAD
rs778131370 CA350224274	11	P>R		No	ClinGen ExAC TOPMed gnomAD
rs575046114 CA63782692	11	P>S		No	ClinGen 1000Genomes gnomAD
rs771430930 CA2046255 CA350224296	12	L>F		No	ClinGen ExAC TOPMed gnomAD
CA350224309 rs1355962447	13	L>P		No	ClinGen gnomAD
CA350224303 rs1297542521	13	L>V		No	ClinGen gnomAD
CA350224321 rs1272334086	14	L>V		No	ClinGen TOPMed
CA63782712 rs955658665	16	L>M		No	ClinGen TOPMed
rs1311288853 CA350224364	17	P>A		No	ClinGen TOPMed gnomAD
CA350224374 rs1339569797	17	P>L		No	ClinGen TOPMed gnomAD
rs1339569797 CA350224372	17	P>R		No	ClinGen TOPMed gnomAD
rs1239293269 CA350224382	18	Q>*		No	ClinGen gnomAD
rs1262061483 CA350224403	19	L>P		No	ClinGen gnomAD
CA350224408 rs1215209773	20	G>A		No	ClinGen gnomAD
CA350224409 rs1215209773	20	G>V		No	ClinGen gnomAD
rs1285954564 CA350224416	21	I>M		No	ClinGen gnomAD
CA63782728 CA350224417 rs1014473935	22	G>R		No	ClinGen TOPMed gnomAD
CA2046256 rs777065957	24	A>D		No	ClinGen ExAC gnomAD
CA350224457 rs1190601565	24	A>T		No	ClinGen TOPMed gnomAD
rs1025039325 CA63782760	25	S>L		No	ClinGen gnomAD
CA2046257 rs748855175	26	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1472350898 CA350224506	27	C>G		No	ClinGen TOPMed
rs554682984 CA2046258	27	C>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA63782841 rs1032126923	28	S>C		No	ClinGen TOPMed gnomAD
rs1032126923 CA350224527	28	S>F		No	ClinGen TOPMed gnomAD
rs1436495835 CA350224535	29	Q>E		No	ClinGen TOPMed gnomAD
rs1436495835 CA350224533	29	Q>K		No	ClinGen TOPMed gnomAD
rs767030169 CA350224558	30	A>D		No	ClinGen ExAC TOPMed gnomAD
rs572997218 CA2046260	30	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767030169 CA2046261	30	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1391690935 CA350224579	31	R>S		No	ClinGen gnomAD
rs1308734408 CA350224585	32	T>A		No	ClinGen gnomAD
CA2046262 rs773176679	35	P>S		No	ClinGen ExAC gnomAD
rs540650009 CA2046263	36	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1416293369 CA350224649	36	G>C		No	ClinGen TOPMed
rs540650009 CA63782874	36	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350224687 rs1349307768	38	S>N		No	ClinGen gnomAD
CA63782895 rs766478215	40	G>C		No	ClinGen ExAC gnomAD
CA2046264 rs766478215	40	G>S		No	ClinGen ExAC gnomAD
CA350224733 rs1252982806	41	A>G		No	ClinGen gnomAD
rs1009726408 CA63782905	43	C>F		No	ClinGen TOPMed
CA2046265 rs753818494	44	S>F		No	ClinGen ExAC gnomAD
CA350224809 rs1404508977	46	S>L		No	ClinGen TOPMed
CA63782912 rs1022042628	47	A>S		No	ClinGen TOPMed gnomAD
rs1022042628 CA350224811	47	A>T		No	ClinGen TOPMed gnomAD
CA350224829 rs1173878546	48	E>G		No	ClinGen gnomAD
TCGA novel	50	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs868667563 CA63782918	50	R>S		No	ClinGen Ensembl
CA2046269 rs758678127	51	R>C		No	ClinGen ExAC TOPMed gnomAD
CA350224867 rs758678127	51	R>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	52	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762288716 CA63782963	52	R>H		No	ClinGen Ensembl
CA63782978 rs940706762	53	Q>E		No	ClinGen gnomAD
TCGA novel	54	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350224927 rs1181629510	54	C>Y		No	ClinGen TOPMed
rs1481010300 CA350224955	56	Q>H		No	ClinGen TOPMed
rs996936635 CA63782989	57	L>F		No	ClinGen TOPMed
CA2046271 rs747388975	58	S>F		No	ClinGen ExAC TOPMed gnomAD
CA63783009 rs899281796	59	T>P		No	ClinGen TOPMed gnomAD
CA2046273 rs781715546	60	V>A		No	ClinGen ExAC
CA2046272 rs757604720	60	V>L		No	ClinGen ExAC gnomAD
rs1456658377 CA350225010	61	P>L		No	ClinGen gnomAD
CA350225022 rs1574776201	62	G>A		No	ClinGen Ensembl
CA63783026 rs866052049	63	A>V		No	ClinGen Ensembl
rs62178345 CA2046275 CA350225046	64	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2046274 rs746356835	64	D>H		No	ClinGen ExAC TOPMed gnomAD
CA350225035 rs746356835	64	D>N		No	ClinGen ExAC TOPMed gnomAD
CA350225040 rs1374921470	64	D>V		No	ClinGen TOPMed
CA350225051 rs747576112	65	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1020542975 CA63783060	65	P>L		No	ClinGen gnomAD
rs747576112 CA2046277	65	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1409962430 CA350225062	66	Q>K		No	ClinGen TOPMed
CA350225079 rs772982593	67	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2046279 rs772982593	67	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1165230982 CA350225082	67	R>H		No	ClinGen gnomAD
CA350225098 rs1433734563	68	S>N		No	ClinGen gnomAD
CA350225119 rs1419696379	69	N>K		No	ClinGen TOPMed
CA350225204 rs759538791	75	A>E		No	ClinGen ExAC TOPMed gnomAD
CA350225207 rs759538791	75	A>G		No	ClinGen ExAC TOPMed gnomAD
CA2046283 rs759538791	75	A>V		No	ClinGen ExAC TOPMed gnomAD
CA350225237 rs1574776322	77	A>G		No	ClinGen Ensembl
CA63783132 rs548799391	77	A>T		No	ClinGen 1000Genomes TOPMed gnomAD
CA350225254 rs1559290602	78	G>A		No	ClinGen Ensembl
rs560995925 CA2046284	78	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1323709865 CA350225259	79	E>K		No	ClinGen gnomAD
CA350225310 rs1246197651	80	G>A		No	ClinGen gnomAD
CA350225304 rs1246197651	80	G>E		No	ClinGen gnomAD
CA2046285 rs752827106	80	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1350782000 CA350225386	83	R>L		No	ClinGen TOPMed gnomAD
rs764359748 CA2046287	83	R>W		No	ClinGen ExAC gnomAD
rs751776602 CA2046288	84	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1188360142 CA350225424	85	D>A		No	ClinGen gnomAD
CA350225421 rs1477384619	85	D>Y		No	ClinGen gnomAD
rs1419621931 CA350225446	86	L>F		No	ClinGen gnomAD
TCGA novel	86	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350225481 rs1574776386	88	G>R		No	ClinGen Ensembl
rs1403237150 CA350225497	88	G>V		No	ClinGen gnomAD
CA63783193 rs926493922	90	P>A		No	ClinGen TOPMed
rs1163524496 CA350225550	90	P>L		No	ClinGen gnomAD
CA2046289 rs757661577	91	A>G		No	ClinGen ExAC TOPMed gnomAD
CA63783208 rs757661577	91	A>V		No	ClinGen ExAC TOPMed gnomAD
CA350225578 rs1300624492	92	K>*		No	ClinGen gnomAD
CA350225599 rs1284592373	93	E>Q		No	ClinGen gnomAD
CA350225632 rs1574776419	94	E>G		No	ClinGen Ensembl
rs1294258419 CA350225688	97	P>T		No	ClinGen gnomAD
CA350225719 rs1381702688	98	P>L		No	ClinGen TOPMed gnomAD
rs1441463321 CA350225736	99	P>L		No	ClinGen gnomAD
CA350225725 rs1226834722	99	P>S		No	ClinGen gnomAD
TCGA novel	100	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1574776469 CA350225765 RCV000997641	101	H>D		No	ClinGen ClinVar Ensembl dbSNP
CA63783220 rs907817389	101	H>R		No	ClinGen Ensembl
rs1196087844 CA350225806	103	V>I		No	ClinGen TOPMed
CA350225861 rs1238947725	105	Y>*		No	ClinGen gnomAD
CA350225850 rs1205324764	105	Y>C		No	ClinGen TOPMed
rs1486681700 CA350225897	107	P>H		No	ClinGen TOPMed
CA350225927 rs1208749154	109	D>H		No	ClinGen TOPMed
rs1413166150 CA350227315	114	H>Q		No	ClinGen gnomAD
CA2046306 rs148073145	118	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2046307 rs762047776	119	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs767688764 COSM296275 CA2046308	119	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	120	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2046309 rs187875052	121	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1312772062 CA350227389	125	Q>E		No	ClinGen TOPMed
CA350227394 rs190789042	125	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350227408 rs1276570372	127	E>G		No	ClinGen gnomAD
rs780674554 CA2046311	128	N>S		No	ClinGen ExAC gnomAD
rs1218470992 CA350227425	129	W>*		No	ClinGen gnomAD
CA350227435 rs1273443170	130	S>R		No	ClinGen gnomAD
rs1196385075 CA350227439	131	L>P		No	ClinGen gnomAD
rs758028301 CA2046313	135	A>G		No	ClinGen ExAC gnomAD
CA2046314 rs200098289	136	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770710492 CA2046316	137	I>V		No	ClinGen ExAC gnomAD
CA2046317 rs780651524	141	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1172416068 CA350227501	141	R>W		No	ClinGen TOPMed gnomAD
CA350227517 rs1168842680	143	P>L		No	ClinGen gnomAD
rs769473017 CA2046319	144	N>S		No	ClinGen ExAC TOPMed gnomAD
rs186306624 CA2046318	144	N>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762856792 CA2046321	147	I>S		No	ClinGen ExAC gnomAD
rs1270637335 CA350227563	150	I>L		No	ClinGen gnomAD
TCGA novel	151	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2046322 rs768533781	154	R>L		No	ClinGen ExAC TOPMed gnomAD
rs768533781 CA350227592	154	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA350227615 rs1176046958	156	H>Y		No	ClinGen TOPMed
rs1216516368 CA350227642	158	H>N		No	ClinGen TOPMed gnomAD
CA350227652 rs1257085161	158	H>Q		No	ClinGen TOPMed gnomAD
CA350227670 rs1188824161	160	F>L		No	ClinGen TOPMed
rs1450875130 CA350227721	163	Y>C		No	ClinGen TOPMed
CA2046323 rs774449498	164	D>G		No	ClinGen ExAC gnomAD
TCGA novel	165	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761816847 CA2046324	165	N>H		No	ClinGen ExAC gnomAD
rs898317319 CA63793598	169	S>C		No	ClinGen Ensembl
CA63793629 rs796506320	171	M>I		No	ClinGen gnomAD
rs956881638 CA63793608	171	M>L		No	ClinGen TOPMed
rs1009579332 CA63793635	173	G>D		No	ClinGen TOPMed
TCGA novel	174	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1559295540 CA350227878	178	N>D		No	ClinGen Ensembl
CA2046326 rs141729817	178	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761138558 CA2046327	179	T>A		No	ClinGen ExAC TOPMed gnomAD
CA350227885 rs761138558	179	T>S		No	ClinGen ExAC TOPMed gnomAD
CA2046328 rs766626317	182	G>V		No	ClinGen ExAC gnomAD
CA350227934 rs1165133809	186	H>Y		No	ClinGen gnomAD
CA2046329 rs764332530	188	Y>C		No	ClinGen ExAC gnomAD
rs867757061 CA63793713	189	M>I		No	ClinGen Ensembl
rs866474616 CA63793721	190	L>V		No	ClinGen Ensembl
CA350227971 rs1342269396	191	L>F		No	ClinGen gnomAD
CA63793725 rs992084776	191	L>I		No	ClinGen gnomAD
rs978576854 CA63793726	191	L>S		No	ClinGen TOPMed
TCGA novel	192	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765772152 CA2046331	199	Q>R		No	ClinGen ExAC gnomAD
rs150129946 COSM149037 CA2046332	200	N>S	stomach [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	204	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780965047 CA2046334	211	N>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	214	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1205158105 CA350228135	214	S>T		No	ClinGen gnomAD
CA350228141 rs1408481664	215	I>L		No	ClinGen TOPMed
CA63793748 rs953317874	215	I>M		No	ClinGen TOPMed gnomAD
rs745480501 CA2046335	217	S>F		No	ClinGen ExAC gnomAD
CA350228154 rs1169699823	217	S>P		No	ClinGen TOPMed
CA2046337 rs779737973	221	S>C		No	ClinGen ExAC gnomAD
TCGA novel	221	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350228187 rs1366405863	222	S>G		No	ClinGen TOPMed
CA2046338 rs749045272	222	S>I		No	ClinGen ExAC TOPMed gnomAD
CA2046339 rs547152139	227	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1472537258 CA350228228	228	N>S		No	ClinGen gnomAD
rs770626840 CA63793825	229	G>R		No	ClinGen gnomAD
CA2046341 rs748289116	231	Q>R		No	ClinGen ExAC gnomAD
rs772009774 CA2046342	233	E>D		No	ClinGen ExAC TOPMed gnomAD
CA350228263 rs1417768653	233	E>V		No	ClinGen gnomAD
CA350228266 rs773529628	234	K>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	234	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2046343 rs773529628	234	K>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	235	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA63793846 rs920328523	236	R>T		No	ClinGen TOPMed
TCGA novel	241	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764116077 CA2046344	241	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs1339491469 CA350228320	242	D>H		No	ClinGen gnomAD
rs766581649 CA2046345	243	E>K		No	ClinGen ExAC TOPMed gnomAD
CA63793879 rs766581649	243	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA2046347 rs759920958	246	M>V		No	ClinGen ExAC gnomAD
rs765902580 CA2046348	247	S>N		No	ClinGen ExAC gnomAD
rs371300473 CA2046349	248	F>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1483802101 CA350228369	249	Y>H		No	ClinGen gnomAD
TCGA novel	249	Y>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2046351 rs766915503	254	N>Y		No	ClinGen ExAC gnomAD
rs1382258140 CA350228406	255	D>H		No	ClinGen gnomAD
rs755755680 CA2046353	256	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA350228417 rs1226649039	256	A>V		No	ClinGen TOPMed
CA350228418 rs1378081825	257	S>T		No	ClinGen gnomAD
rs1350481346 CA350228431	258	F>L		No	ClinGen TOPMed
CA350228426 rs1467439940	258	F>V		No	ClinGen gnomAD
rs1300838503 CA350228437	259	T>I		No	ClinGen gnomAD
CA2046355 rs749097469	260	L>F		No	ClinGen ExAC gnomAD
CA350228448 rs1574784242	261	I>T		No	ClinGen Ensembl
TCGA novel	266	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2046356 rs754758602	270	L>M		No	ClinGen ExAC gnomAD
rs778893586 CA2046357	274	L>V		No	ClinGen ExAC gnomAD
rs748051822 CA2046358	275	F>L		No	ClinGen ExAC gnomAD
TCGA novel	275	F>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350228610 rs1313265781	277	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA63793990 rs890780790	282	K>*		No	ClinGen Ensembl
CA2046360 rs773193613	283	D>V		No	ClinGen ExAC gnomAD
rs747041957 CA2046361	286	I>V		No	ClinGen ExAC gnomAD
rs1344678672 CA350228737	287	D>N		No	ClinGen gnomAD
rs771069460 CA2046362	288	A>G		No	ClinGen ExAC TOPMed gnomAD
rs776978962 CA2046363	290	I>V		No	ClinGen ExAC gnomAD
CA63794023 rs762854365	291	K>N		No	ClinGen gnomAD
TCGA novel	294	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350228839 rs1178079764	294	R>T		No	ClinGen TOPMed gnomAD
CA2046365 rs770252817	300	D>G		No	ClinGen ExAC gnomAD
rs760043604 CA2046364	300	D>H		No	ClinGen ExAC gnomAD
CA350228976 rs1465885926	306	G>R		No	ClinGen gnomAD
CA2046366 rs753891992	307	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1574784299 CA350229049	311	V>G		No	ClinGen Ensembl
CA2046367 rs763394464	311	V>I		No	ClinGen ExAC
CA2046369 rs751350941	314	P>L		No	ClinGen ExAC TOPMed gnomAD
rs753488592 CA2046372	318	K>E		No	ClinGen ExAC gnomAD
TCGA novel	318	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350229145 rs1345306043	319	E>*	Variant assessed as Somatic; 4.644e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1260287304 CA350229198	323	T>A		No	ClinGen gnomAD
TCGA novel	324	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2046374 rs778699409	326	I>T		No	ClinGen ExAC gnomAD
rs551418745 CA2046375	327	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	331	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758270132 CA2046376	331	V>L		No	ClinGen ExAC gnomAD
rs771037348 CA2046379	336	V>I		No	ClinGen ExAC gnomAD
CA2046380 rs781605495 COSM1246803	337	R>C	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs781605495 CA350229320	337	R>G		No	ClinGen ExAC TOPMed gnomAD
rs199913055 CA2046381 COSM1014622	337	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA63794121 rs1013490362	340	M>I		No	ClinGen Ensembl
CA350229338 rs1351117857	340	M>V		No	ClinGen TOPMed gnomAD
CA2046382 rs375153692	344	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA350229412 rs1292311128	345	G>E		No	ClinGen gnomAD
CA350229454 rs1289546467	347	E>K		No	ClinGen TOPMed
CA2046383 rs776031021	348	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA2046384 rs763312533	349	K>E		No	ClinGen ExAC gnomAD
CA350229512 rs1559295719	350	K>Q		No	ClinGen Ensembl
TCGA novel	351	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777795916 CA2046385	352	V>F		No	ClinGen ExAC gnomAD
rs777795916 CA63794145	352	V>I		No	ClinGen ExAC gnomAD
rs760173036 CA2046387	354	I>T		No	ClinGen ExAC TOPMed gnomAD
CA350229589 rs1301088778	356	G>R		No	ClinGen TOPMed
CA2046388 rs765849305	357	D>N		No	ClinGen ExAC TOPMed gnomAD
rs753291869 CA2046389	364	S>N		No	ClinGen ExAC TOPMed gnomAD
rs752446317 CA2046392	368	F>L		No	ClinGen ExAC gnomAD
rs758196949 CA2046393	370	K>E		No	ClinGen ExAC gnomAD
rs138591358 CA2046394	372	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2046395 rs567530246	373	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1182114225 CA350229920	375	I>L		No	ClinGen TOPMed gnomAD
CA350229928 rs1421593880	375	I>M		No	ClinGen TOPMed gnomAD
rs1415443118 CA350229926	375	I>T		No	ClinGen gnomAD
TCGA novel	379	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2046396 rs757329375	380	R>S		No	ClinGen ExAC gnomAD
rs781444385 CA2046397	382	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA2046398 rs745903850	385	F>L		No	ClinGen ExAC TOPMed gnomAD
rs745903850 CA350230075	385	F>V		No	ClinGen ExAC TOPMed gnomAD
CA350230092 rs1300528985	386	F>S		No	ClinGen TOPMed gnomAD

No associated diseases with Q8N8R5

4 regional properties for Q8N8R5

Type	Name	Position	InterPro Accession
domain	ABC transporter-like, ATP-binding domain	439 - 673	IPR003439
domain	AAA+ ATPase domain	464 - 650	IPR003593
domain	ABC transporter type 1, transmembrane domain	109 - 402	IPR011527
conserved_site	ABC transporter-like, conserved site	576 - 590	IPR017871

Functions

		Description
EC Number
Subcellular Localization	Mitochondrion matrix
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.
respirasome	The protein complexes that form the electron transport system (the respiratory chain), associated with a cell membrane, usually the plasma membrane (in prokaryotes) or the inner mitochondrial membrane (on eukaryotes). The respiratory chain complexes transfer electrons from an electron donor to an electron acceptor and are associated with a proton pump to create a transmembrane electrochemical gradient.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name	Definition
oxidative phosphorylation	The phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9D9H8		Mitochondrial protein C2orf69 homolog	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MWGFRLLRSP	PLLLLLPQLG	IGNASSCSQA	RTMNPGGSGG	ARCSLSAEVR	RRQCLQLSTV
70	80	90	100	110	120
PGADPQRSNE	LLLLAAAGEG	LERQDLPGDP	AKEEPQPPPQ	HHVLYFPGDV	QNYHEIMTRH
130	140	150	160	170	180
PENYQWENWS	LENVATILAH	RFPNSYIWVI	KCSRMHLHKF	SCYDNFVKSN	MFGAPEHNTD
190	200	210	220	230	240
FGAFKHLYML	LVNAFNLSQN	SLSKKSLNVW	NKDSIASNCR	SSPSHTTNGC	QGEKVRTCEK
250	260	270	280	290	300
SDESAMSFYP	PSLNDASFTL	IGFSKGCVVL	NQLLFELKEA	KKDKNIDAFI	KSIRTMYWLD
310	320	330	340	350	360
GGHSGGSNTW	VTYPEVLKEF	AQTGIIVHTH	VTPYQVRDPM	RSWIGKEHKK	FVQILGDLGM
370	380
QVTSQIHFTK	EAPSIENHFR	VHEVF