AiPD: Autoinhibited Protein Database

Q9HD23

Gene name	MRS2 (HPT, MRS2L)
Protein name	Magnesium transporter MRS2 homolog, mitochondrial
Names	MRS2-like protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:57380
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

21-103 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

21-103 (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

7 structures for Q9HD23

Entry ID	Method	Resolution	Chain	Position	Source
8IP3	EM	260 A	A/B/C/D/E	1-443	PDB
8IP4	EM	270 A	A/B/C/D/E	1-443	PDB
8IP5	EM	250 A	A/B/C/D/E	1-443	PDB
8IP6	EM	290 A	A/B/C/D/E	1-443	PDB
8TUL	EM	280 A	A/B/C/D/E	1-443	PDB
8TUP	EM	330 A	A/B/C/D/E	1-443	PDB
AF-Q9HD23-F1	Predicted				AlphaFoldDB

351 variants for Q9HD23

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs940241845 CA136099688	2	E>D		No	ClinGen gnomAD
CA3654959 rs762048873	3	C>W		No	ClinGen ExAC gnomAD
CA136099689 rs374658611	3	C>Y		No	ClinGen ESP TOPMed
CA3654960 rs368278356	4	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1581690958 CA362947121	5	R>C		No	ClinGen Ensembl
rs750921107 CA3654961	8	P>A		No	ClinGen ExAC TOPMed gnomAD
rs750921107 CA3654962	8	P>S		No	ClinGen ExAC TOPMed gnomAD
rs752165493 CA362947194	9	C>S		No	ClinGen ExAC gnomAD
rs752165493 CA3654964	9	C>Y		No	ClinGen ExAC gnomAD
CA3654966 rs777270835	11	L>V		No	ClinGen ExAC TOPMed gnomAD
CA362947256 rs1581691002	12	P>L		No	ClinGen Ensembl
rs140050426 CA3654968	13	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3654967 rs140050426	13	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs140050426 CA362947259	13	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3654969 rs781076329	14	A>E		No	ClinGen ExAC gnomAD
TCGA novel	14	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362947289 rs781076329	14	A>V		No	ClinGen ExAC gnomAD
rs1561803468 CA362947389	18	P>R		No	ClinGen Ensembl
rs1375177306 CA362947375	18	P>T		No	ClinGen TOPMed
rs1394422316 CA362947407	19	R>Q		No	ClinGen TOPMed
CA3654971 rs143703221	19	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs202196902 CA136099795	20	R>W		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs1581691078 CA362947484	22	L>R		No	ClinGen Ensembl
CA136099806 rs866975883	24	A>D		No	ClinGen Ensembl
rs1451058673 CA362947517	25	L>M		No	ClinGen gnomAD
rs1291112455 CA362947539	26	A>V		No	ClinGen gnomAD
rs1473120773 CA362947583	28	D>V		No	ClinGen TOPMed
rs768959543 CA136099837	29	V>L		No	ClinGen ExAC gnomAD
rs768959543 CA3654974	29	V>M		No	ClinGen ExAC gnomAD
rs889522016 CA136099841	30	T>I		No	ClinGen TOPMed gnomAD
CA362947641 rs1235297019	31	S>F		No	ClinGen TOPMed gnomAD
CA3654976 rs748599446	32	V>M		No	ClinGen ExAC gnomAD
rs1351556549 CA362947663	33	G>D		No	ClinGen gnomAD
rs1217986971 CA362947680	34	P>L		No	ClinGen gnomAD
rs2295651 CA3654978	35	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3654977 rs2295651 COSM4006220 VAR_023782 COSM3684175	35	P>S	urinary_tract [Cosmic]	No	ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs775117818 CA3654981	36	V>I		No	ClinGen ExAC TOPMed gnomAD
rs376877403 CA3654983	37	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA362947717 rs1209887731	37	A>P		No	ClinGen TOPMed
rs1295686633 CA362947731	38	A>P		No	ClinGen TOPMed
CA362947759 rs1231941270	40	G>S		No	ClinGen TOPMed
COSM1754673 COSM4006221 rs751159587 CA3654984	42	R>Q	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3654985 rs756867136	43	A>T		No	ClinGen ExAC gnomAD
CA3654986 rs767450231	43	A>V		No	ClinGen ExAC gnomAD
rs1457788388 CA362947832	45	L>P		No	ClinGen gnomAD
CA3654988 rs146260219	46	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1373716908 CA362947838	46	I>V		No	ClinGen gnomAD
rs368943224 CA136099915	49	S>N		No	ClinGen TOPMed gnomAD
CA362947910 rs1336840284	51	A>E		No	ClinGen gnomAD
rs749448794 CA3654990	51	A>P		No	ClinGen ExAC gnomAD
rs749448794 CA3654991	51	A>T		No	ClinGen ExAC gnomAD
rs1162733722 CA362947918	52	A>P		No	ClinGen TOPMed
CA3654992 rs778997106	52	A>V		No	ClinGen ExAC gnomAD
CA3654993 rs371536419	54	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1412443081 CA362947973	56	G>R		No	ClinGen TOPMed
rs374151011 CA3654995	57	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs374151011 CA3654994	57	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA362948005 rs1581691324	58	D>A		No	ClinGen Ensembl
rs747354367 CA3654996	58	D>Y		No	ClinGen ExAC gnomAD
rs777000900 CA362948017	59	R>G		No	ClinGen ExAC gnomAD
rs777000900 CA3654998	59	R>W		No	ClinGen ExAC gnomAD
rs1408070587 CA362948034	60	L>P		No	ClinGen gnomAD
CA362948028 rs1178583963	60	L>V		No	ClinGen TOPMed gnomAD
rs11695 CA3654999	61	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1469436382 CA362948062	63	A>T		No	ClinGen TOPMed
COSM1195673 CA362948074 rs1420595686	63	A>V	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1462443725 CA362948080	64	G>C		No	ClinGen gnomAD
CA3655016 rs781563164	64	G>D		No	ClinGen ExAC gnomAD
CA3655017 rs367835701	65	E>K		No	ClinGen ESP ExAC gnomAD
rs1281833383 CA362949202	67	H>Q		No	ClinGen TOPMed gnomAD
CA3655018 rs372663401	67	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs773780974 CA362949207	68	R>G		No	ClinGen ExAC gnomAD
rs141082353 CA362949217	68	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3655020 rs141082353	68	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3655019 rs773780974	68	R>W		No	ClinGen ExAC gnomAD
CA362949232 rs576984762	69	F>C		No	ClinGen 1000Genomes
CA362949222 rs1240907368	69	F>L		No	ClinGen gnomAD
rs576984762 CA136101695	69	F>S		No	ClinGen 1000Genomes
CA3655021 rs771914738	70	R>S		No	ClinGen ExAC gnomAD
CA136101699 rs545942096	71	T>I		No	ClinGen 1000Genomes TOPMed gnomAD
rs1581693499 CA362949263	71	T>P		No	ClinGen Ensembl
CA3655023 rs781236240	74	V>I		No	ClinGen ExAC gnomAD
rs753633482 CA3655025	76	Q>K		No	ClinGen ExAC gnomAD
rs770113409 CA3655027	79	L>V		No	ClinGen ExAC TOPMed gnomAD
rs778027357 CA3655030	81	S>G		No	ClinGen ExAC TOPMed gnomAD
rs993284457 CA136101782	82	V>I		No	ClinGen Ensembl
rs757460383 CA3655032	83	A>V		No	ClinGen ExAC gnomAD
rs371897465 CA136101803	84	P>S		No	ClinGen ESP TOPMed gnomAD
CA3655033 rs781431699	85	V>I		No	ClinGen ExAC TOPMed gnomAD
rs781431699 CA362949511	85	V>L		No	ClinGen ExAC TOPMed gnomAD
CA136101825 rs1026388343	87	T>P		No	ClinGen Ensembl
CA3655053 rs750818086	89	T>I		No	ClinGen ExAC gnomAD
CA3655054 rs750818086	89	T>R		No	ClinGen ExAC gnomAD
rs868593058 CA136104783	92	D>G		No	ClinGen Ensembl
CA3655056 rs749814624	93	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1417025672 CA362950409	93	K>R		No	ClinGen gnomAD
CA3655057 rs755505797	95	G>E		No	ClinGen ExAC gnomAD
CA362950467 rs34309809	96	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362950472 rs1179557292	97	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA362950510 rs1268943267	99	S>F		No	ClinGen TOPMed
CA3655059 rs746497652	100	F>C		No	ClinGen ExAC gnomAD
CA362950737 rs1212893479	107	L>S		No	ClinGen gnomAD
rs1256834451 CA362950742	108	Y>H		No	ClinGen gnomAD
CA362950749 rs1427869113	109	Q>*		No	ClinGen gnomAD
rs1190705159 CA362950754	109	Q>R		No	ClinGen gnomAD
CA362950758 rs1374585125	110	E>Q		No	ClinGen gnomAD
rs200230655 CA3655090	111	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1031049045 CA136105711	112	G>S		No	ClinGen TOPMed gnomAD
CA3655091 rs375640936	114	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs754297708 CA3655093	117	D>E		No	ClinGen ExAC gnomAD
TCGA novel	117	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	117	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362950816 rs1581697931	119	R>G		No	ClinGen Ensembl
CA136105741 rs943669374	122	H>R		No	ClinGen TOPMed
rs1366446151 CA362950864	125	S>N		No	ClinGen gnomAD
rs759978063 CA362950876	127	T>A		No	ClinGen ExAC gnomAD
CA3655094 rs759978063	127	T>P		No	ClinGen ExAC gnomAD
CA362950890 rs1235046600	129	R>T		No	ClinGen gnomAD
CA136105750 rs202092002	130	N>D		No	ClinGen 1000Genomes
rs113648254 CA136105757	132	R>G		No	ClinGen Ensembl
CA3655095 rs765904603	134	I>V		No	ClinGen ExAC gnomAD
TCGA novel	135	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	136	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	136	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3655096 CA136105778 rs753262738	137	M>I		No	ClinGen ExAC TOPMed gnomAD
rs913150622 CA136105763	137	M>T		No	ClinGen Ensembl
CA3655138 rs147931290	139	Y>*		No	ClinGen ESP ExAC gnomAD
rs778788587 CA3655137	139	Y>C		No	ClinGen ExAC gnomAD
rs778788587 CA362952628	139	Y>F		No	ClinGen ExAC gnomAD
CA362952649 rs1485084053	140	L>F		No	ClinGen gnomAD
TCGA novel	141	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772089844 CA3655139	143	V>M		No	ClinGen ExAC gnomAD
rs201300768 CA3655140	144	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1435097947 CA362952724	145	T>I		No	ClinGen TOPMed
CA3655142 rs771149951	147	E>G		No	ClinGen ExAC gnomAD
rs747147537 CA3655141	147	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1581700693 CA362952761	148	C>G		No	ClinGen Ensembl
rs1561809375 CA362952778	149	L>F		No	ClinGen Ensembl
CA3655143 rs776786340	150	L>V		No	ClinGen ExAC gnomAD
CA362952832 rs1402341231	153	D>A		No	ClinGen gnomAD
rs1314862673 CA566286617	154	Y>*		No	ClinGen gnomAD
CA3655145 COSM1076464 rs769862190	155	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA362952915 rs1288008263	158	N>D		No	ClinGen gnomAD
CA136107944 rs1047244837	160	E>G		No	ClinGen TOPMed
TCGA novel	160	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362953053 rs1230151178	165	R>L		No	ClinGen TOPMed gnomAD
CA362953045 rs1230151178	165	R>Q		No	ClinGen TOPMed gnomAD
rs1486186312 CA362953038	165	R>W		No	ClinGen TOPMed
rs1581700760 CA362953068	166	E>G		No	ClinGen Ensembl
rs763220163 CA3655147	167	L>F		No	ClinGen ExAC gnomAD
CA3655148 rs764719730	167	L>P		No	ClinGen ExAC gnomAD
CA362953101 rs1443441307	168	P>H		No	ClinGen gnomAD
CA3655150 rs762238108	169	S>L		No	ClinGen ExAC gnomAD
rs1240715252 CA362953124	170	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	173	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362953201 rs1305263019	174	E>D		No	ClinGen gnomAD
CA362953196 rs1277448644	174	E>V		No	ClinGen TOPMed
rs753293793 CA3655152	176	Q>H		No	ClinGen ExAC gnomAD
CA3655154 rs200245617 COSM1076465	178	V>I	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA136107974 rs201401855	180	Y>D		No	ClinGen 1000Genomes TOPMed gnomAD
CA362953295 rs201401855	180	Y>H		No	ClinGen 1000Genomes TOPMed gnomAD
CA136107978 rs371409305	181	P>R		No	ClinGen ESP TOPMed
rs140127479 CA3655155	183	P>A		No	ClinGen ESP ExAC gnomAD
CA136107983 rs140127479	183	P>S		No	ClinGen ESP ExAC gnomAD
CA3655156 rs758118734	185	E>*		No	ClinGen ExAC gnomAD
rs777569528 CA3655157	188	A>P		No	ClinGen ExAC gnomAD
CA362953414 rs777569528	188	A>S		No	ClinGen ExAC gnomAD
rs1172263156 CA362953425	188	A>V		No	ClinGen TOPMed
CA362953481 rs1259304210	192	L>F		No	ClinGen gnomAD
rs1581700897 CA362953500	194	Q>*		No	ClinGen Ensembl
CA362953505 rs1369707547	194	Q>R		No	ClinGen gnomAD
CA362953679 rs1457220222	198	N>S		No	ClinGen TOPMed
rs1581703830 CA362953683	199	T>P		No	ClinGen Ensembl
rs150300898 CA3655165	200	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA3655166 rs774655394	201	Q>H		No	ClinGen ExAC gnomAD
CA362953698 rs1325162120	201	Q>R		No	ClinGen TOPMed gnomAD
rs762326148 CA3655167	202	G>R		No	ClinGen ExAC gnomAD
CA362953760 rs1253928230	210	L>R		No	ClinGen gnomAD
CA3655169 rs138071247	211	I>N		No	ClinGen ESP ExAC gnomAD
CA136110329 rs142665642	213	E>D		No	ClinGen ESP
rs758968199 CA3655170	216	D>N		No	ClinGen ExAC gnomAD
rs1439292796 CA362953803	217	A>D		No	ClinGen gnomAD
rs145986349 CA3655172	219	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA3655173 rs758002732	220	D>V		No	ClinGen ExAC gnomAD
rs751352570 CA3655176	222	K>R		No	ClinGen ExAC TOPMed gnomAD
rs375139752 CA3655178	224	S>Y		No	ClinGen ESP ExAC gnomAD
CA362953861 rs1159008475	226	V>A		No	ClinGen gnomAD
CA362953872 rs1409013130	228	R>G		No	ClinGen gnomAD
CA136110371 rs1050111741	228	R>K		No	ClinGen Ensembl
CA3655180 rs746001609	229	S>N		No	ClinGen ExAC TOPMed gnomAD
CA362953884 rs1371929127	229	S>R		No	ClinGen gnomAD
rs756161498 CA3655181	230	K>R		No	ClinGen ExAC TOPMed
rs780114561 CA3655182	233	I>V		No	ClinGen ExAC gnomAD
rs768869629 CA3655184	234	L>F		No	ClinGen ExAC gnomAD
rs749500387 CA3655183	234	L>I		No	ClinGen ExAC gnomAD
rs774743625 CA3655185	236	Q>R		No	ClinGen ExAC gnomAD
CA362953950 rs1194357201	240	S>C		No	ClinGen gnomAD
CA362954012 rs1449706366	247	D>G		No	ClinGen gnomAD
rs146341688 CA3655212	247	D>H		No	ClinGen ESP ExAC
CA3655213 rs762495279	248	I>T		No	ClinGen ExAC TOPMed gnomAD
CA362954037 rs1287963792	251	F>L		No	ClinGen TOPMed
rs1173715028 CA362954045	252	K>E		No	ClinGen gnomAD
CA3655215 rs776564075	252	K>R		No	ClinGen ExAC TOPMed gnomAD
CA3655216 rs774157936	253	E>D		No	ClinGen ExAC TOPMed gnomAD
CA3655217 rs761489410	255	I>V		No	ClinGen ExAC gnomAD
CA136111401 rs979026343	256	L>V		No	ClinGen TOPMed gnomAD
rs530041972 CA136111409	259	L>S		No	ClinGen 1000Genomes
CA362954101 rs1314086502	260	D>G		No	ClinGen gnomAD
rs1161214155 CA362954099	260	D>H		No	ClinGen TOPMed
rs750181010 CA3655219	263	E>D		No	ClinGen ExAC gnomAD
rs949400851 CA136111433	265	L>V		No	ClinGen Ensembl
rs1206520185 CA362954164	269	C>Y		No	ClinGen gnomAD
rs1249679371 CA362954191	273	W>G		No	ClinGen gnomAD
CA3655220 rs760573697	275	D>E		No	ClinGen ExAC gnomAD
rs1478796093 CA362954245	277	Q>E		No	ClinGen TOPMed
rs1046631107 CA136111442	278	V>I		No	ClinGen TOPMed gnomAD
rs1209846867 CA362955610	282	S>N		No	ClinGen gnomAD
CA362955626 rs1392396672	283	S>I		No	ClinGen gnomAD
CA3655244 rs765335854	284	A>G		No	ClinGen ExAC gnomAD
CA362955636 rs1356322472	284	A>S		No	ClinGen TOPMed
rs1471888234 CA362955649	286	I>T		No	ClinGen TOPMed gnomAD
rs554666112 CA136112996	288	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3655247 rs764348521	290	E>G		No	ClinGen ExAC gnomAD
CA3655251 rs781343643	297	E>Q		No	ClinGen ExAC gnomAD
rs1371191245 CA362955740	299	Y>H		No	ClinGen TOPMed
CA3655252 rs746407611	300	Y>C		No	ClinGen ExAC gnomAD
rs778611295 CA3655254	301	R>*		No	ClinGen ExAC gnomAD
CA136113038 rs886214086	301	R>Q		No	ClinGen TOPMed
rs1310319295 CA362955764	303	A>T		No	ClinGen gnomAD
rs1424112674 CA362955770	304	D>N		No	ClinGen TOPMed
rs772904013 CA3655257	305	D>A		No	ClinGen ExAC TOPMed gnomAD
rs747627568 CA3655256	305	D>N		No	ClinGen ExAC gnomAD
rs747627568 CA3655255	305	D>Y		No	ClinGen ExAC gnomAD
CA362955787 rs1481809545	306	L>P		No	ClinGen gnomAD
CA362955794 rs1207888521	307	S>F		No	ClinGen gnomAD
CA3655258 rs746587042	308	N>S		No	ClinGen ExAC TOPMed gnomAD
CA3655260 rs776253911	309	A>G		No	ClinGen ExAC gnomAD
rs1225327166 CA362955802	309	A>T		No	ClinGen TOPMed gnomAD
TCGA novel	309	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA136113072 rs928532684	310	A>S		No	ClinGen gnomAD
rs1340291217 CA362955813 COSM1215530	311	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA3655261 rs759496727	311	R>H		No	ClinGen ExAC TOPMed gnomAD
rs566144730 CA136113075	315	V>A		No	ClinGen Ensembl
rs566144730 CA362955842	315	V>G		No	ClinGen Ensembl
rs1388381999 CA362955838	315	V>M		No	ClinGen gnomAD
rs929203868 CA136113078	319	D>H		No	ClinGen TOPMed
CA362955873 rs1431652186	320	S>L		No	ClinGen gnomAD
rs765137679 CA3655262	322	S>R		No	ClinGen ExAC gnomAD
CA3655263 rs775588128	323	I>V		No	ClinGen ExAC gnomAD
CA136113096 rs377468761	327	N>D		No	ClinGen ESP TOPMed
CA3655264 rs763016801	327	N>S		No	ClinGen ExAC TOPMed gnomAD
rs558213808 CA3655266	330	S>G		No	ClinGen ExAC TOPMed
CA3655302 rs766788945	332	R>*		No	ClinGen ExAC gnomAD
TCGA novel	334	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3655304 rs150621144	334	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA136113461 rs983376431	335	M>I		No	ClinGen TOPMed gnomAD
rs777369293 CA3655306	336	M>L		No	ClinGen ExAC gnomAD
rs777369293 CA3655305	336	M>V		No	ClinGen ExAC gnomAD
rs780818489 CA3655308	337	R>K		No	ClinGen ExAC gnomAD
rs745722301 CA3655309	337	R>S		No	ClinGen ExAC gnomAD
TCGA novel	338	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1436074313 CA362956013	339	N>S		No	ClinGen TOPMed
rs1561813484 CA362956024	341	Q>*		No	ClinGen Ensembl
CA3655310 rs769591847	341	Q>H		No	ClinGen ExAC gnomAD
rs200780093 CA136113488	341	Q>R		No	ClinGen 1000Genomes
rs200356474 CA136113490	342	L>R		No	ClinGen 1000Genomes
rs779783331 CA3655311	343	T>I		No	ClinGen ExAC gnomAD
rs374599796 CA3655313	344	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1172372535 CA362956038	344	M>V		No	ClinGen TOPMed
rs774529508 CA3655314	346	T>I		No	ClinGen ExAC TOPMed gnomAD
rs774529508 CA362956054	346	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1433626630 CA362956079	350	S>L		No	ClinGen gnomAD
CA362956096 rs1368850442	353	G>R		No	ClinGen gnomAD
CA362956117 rs1228384799	355	M>L		No	ClinGen gnomAD
rs1286841057 CA362956197	361	M>V		No	ClinGen gnomAD
rs377618847 CA3655318	362	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1308331500 CA362956258	365	S>Y		No	ClinGen gnomAD
COSM1696960 CA362956264 rs1307990718	366	S>F	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
CA136117354 rs941382165	370	D>N		No	ClinGen Ensembl
rs1367738467 CA362956690	371	H>Y		No	ClinGen gnomAD
CA3655344 rs759814859	372	R>G		No	ClinGen ExAC gnomAD
rs765832035 COSM168570 CA3655345	372	R>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3655347 rs775875580	373	I>L		No	ClinGen ExAC TOPMed gnomAD
CA362956701 rs775875580	373	I>V		No	ClinGen ExAC TOPMed gnomAD
CA362956713 rs1385288450	374	F>L		No	ClinGen gnomAD
rs763453265 CA3655348	375	W>R		No	ClinGen ExAC TOPMed gnomAD
CA362956734 rs767034578	377	I>M		No	ClinGen ExAC gnomAD
CA362956729 rs1192176821	377	I>V		No	ClinGen TOPMed
CA362956746 rs1372871997	379	G>V		No	ClinGen gnomAD
CA362956754 rs1410982722	381	M>L		No	ClinGen TOPMed gnomAD
rs1027475600 CA136117386	381	M>T		No	ClinGen TOPMed gnomAD
rs1410982722 CA362956755	381	M>V		No	ClinGen TOPMed gnomAD
rs1339144694 CA362956769	382	F>L		No	ClinGen gnomAD
rs1465457674 CA362956770	383	M>L		No	ClinGen TOPMed
CA362956774 rs1450442374	383	M>T		No	ClinGen gnomAD
rs1270102271 CA362956782	384	G>E		No	ClinGen TOPMed
CA3655351 rs755799850	385	S>G		No	ClinGen ExAC gnomAD
CA3655353 rs141780681	388	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs190355017 CA3655354	389	W>*		No	ClinGen 1000Genomes ExAC gnomAD
CA3655356 rs370922750	390	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs778700851 CA3655355	390	R>W		No	ClinGen ExAC gnomAD
rs144289622 CA3655357	391	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3655358 rs778049258	391	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA362956836 rs1448500418	393	L>P		No	ClinGen gnomAD
CA362956840 rs1166111610	394	S>A		No	ClinGen gnomAD
rs1391542070 CA362956850	395	F>L		No	ClinGen gnomAD
TCGA novel	396	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3655360 rs201381679	398	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150697747 CA3655361	398	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs770061638 CA3655363	400	L>P		No	ClinGen ExAC gnomAD
rs1337806296 CA362956897	401	E>*		No	ClinGen gnomAD
CA362956916 rs1364661392	402	A>V		No	ClinGen TOPMed gnomAD
CA3655365 rs763497356	403	P>A		No	ClinGen ExAC gnomAD
CA362956924 rs1561816653	403	P>R		No	ClinGen Ensembl
CA362956933 rs1456218484	404	L>W		No	ClinGen TOPMed
rs764550163 CA3655366	406	P>S		No	ClinGen ExAC gnomAD
rs34314832 CA3655369	407	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200445138 CA3655368	407	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA362957007 rs1303736518	408	M>L		No	ClinGen gnomAD
CA362957012 rs1349830085	408	M>R		No	ClinGen gnomAD
CA362957020 rs1226276273	409	A>V		No	ClinGen gnomAD
VAR_061129 CA3655398 rs35261004	412	P>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs762828549 CA3655399	413	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1561817130 CA362957057	415	T>P		No	ClinGen Ensembl
rs1243705093 CA362957063	416	L>F		No	ClinGen TOPMed gnomAD
CA362957061 rs1243705093	416	L>I		No	ClinGen TOPMed gnomAD
CA3655400 rs763927400	416	L>R		No	ClinGen ExAC TOPMed gnomAD
CA3655404 rs150933222	417	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA3655403 rs547938186	417	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA136117918 rs767232301	418	A>P		No	ClinGen Ensembl
rs1561817194 CA362957079	419	D>V		No	ClinGen Ensembl
TCGA novel	420	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362957084 rs1448812255	420	R>K		No	ClinGen TOPMed
rs756353827 CA3655405	420	R>S		No	ClinGen ExAC gnomAD
CA362957091 rs1423458008	421	S>N		No	ClinGen gnomAD
CA565929443 rs1561817138	424	L>F		No	ClinGen Ensembl
rs1011960598 CA136117927	425	K>R		No	ClinGen TOPMed
rs974199131 CA136117932	431	D>N		No	ClinGen Ensembl
TCGA novel	432	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs921252924 CA136117938	433	L>V		No	ClinGen TOPMed gnomAD
CA362957181 rs1168046418	434	G>R		No	ClinGen gnomAD
rs1369813949 CA362957186	435	S>P		No	ClinGen TOPMed gnomAD
CA3655409 rs769012163 CA136117948	437	R>S		No	ClinGen ExAC TOPMed gnomAD
CA362957203 rs1163374792	438	S>G		No	ClinGen TOPMed
rs748675198 CA3655410	438	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1395071325 CA362957216	440	L>I		No	ClinGen gnomAD
CA362957223 rs1310079131	441	T>A		No	ClinGen gnomAD
CA362957225 rs1561817287	441	T>I		No	ClinGen Ensembl
rs776046884 CA3655413	443	R>C		No	ClinGen ExAC gnomAD
rs114959453 CA3655414	443	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3655415 rs769391110	444	R>Q		No	ClinGen ExAC gnomAD

No associated diseases with Q9HD23

No regional properties for Q9HD23

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9HD23

Functions

		Description
EC Number
Subcellular Localization	Mitochondrion inner membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
mitochondrial inner membrane	The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae.
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.

1 GO annotations of molecular function

Name	Definition
magnesium ion transmembrane transporter activity	Enables the transfer of magnesium (Mg) ions from one side of a membrane to the other.

3 GO annotations of biological process

Name	Definition
magnesium ion transport	The directed movement of magnesium (Mg) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
mitochondrial magnesium ion transmembrane transport	The process in which a magnesium ion (Mg2+) is transported across a mitochondrial membrane, into or out of the mitochondrion.
transmembrane transport	The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other.

6 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5NCE8	Mrs2	Magnesium transporter MRS2 homolog, mitochondrial	Mus musculus (Mouse)	PR
Q9ET09	Mrs2	Magnesium transporter MRS2 homolog, mitochondrial	Rattus norvegicus (Rat)	PR
Q10S25	MRS2-H	Putative magnesium transporter MRS2-H	Oryza sativa subsp japonica (Rice)	PR
Q9AUK4	MRS2-A	Magnesium transporter MRS2-A, chloroplastic	Oryza sativa subsp japonica (Rice)	PR
Q304A0	MRS2-7	Magnesium transporter MRS2-7	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FLG2	MRS2-2	Magnesium transporter MRS2-2	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MECLRSLPCL	LPRAMRLPRR	TLCALALDVT	SVGPPVAACG	RRANLIGRSR	AAQLCGPDRL
70	80	90	100	110	120
RVAGEVHRFR	TSDVSQATLA	SVAPVFTVTK	FDKQGNVTSF	ERKKTELYQE	LGLQARDLRF
130	140	150	160	170	180
QHVMSITVRN	NRIIMRMEYL	KAVITPECLL	ILDYRNLNLE	QWLFRELPSQ	LSGEGQLVTY
190	200	210	220	230	240
PLPFEFRAIE	ALLQYWINTL	QGKLSILQPL	ILETLDALVD	PKHSSVDRSK	LHILLQNGKS
250	260	270	280	290	300
LSELETDIKI	FKESILEILD	EEELLEELCV	SKWSDPQVFE	KSSAGIDHAE	EMELLLENYY
310	320	330	340	350	360
RLADDLSNAA	RELRVLIDDS	QSIIFINLDS	HRNVMMRLNL	QLTMGTFSLS	LFGLMGVAFG
370	380	390	400	410	420
MNLESSLEED	HRIFWLITGI	MFMGSGLIWR	RLLSFLGRQL	EAPLPPMMAS	LPKKTLLADR
430	440
SMELKNSLRL	DGLGSGRSIL	TNR