AiPD: Autoinhibited Protein Database

Q9H000

Gene name	MKRN2 (RNF62, HSPC070)
Protein name	E3 ubiquitin-protein ligase makorin-2
Names	RING finger protein 62, RING-type E3 ubiquitin transferase makorin-2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23609
EC number	2.3.2.27: Aminoacyltransferases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

76-179 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

76-179 (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 Q9H000

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9H000-F1	Predicted				AlphaFoldDB

338 variants for Q9H000

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1470328530	1	M>?	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1165369144 CA351485327	4	K>Q		No	ClinGen TOPMed gnomAD
rs1433131241 CA351485348	6	I>T		No	ClinGen TOPMed
CA351485354 rs1012878272	7	T>I		No	ClinGen TOPMed gnomAD
rs1012878272 CA69572758	7	T>S		No	ClinGen TOPMed gnomAD
CA351485385 rs1335955935	10	Y>H		No	ClinGen gnomAD
rs1240811069 CA351485396	11	F>Y		No	ClinGen gnomAD
CA351485404 rs1341610727	12	M>T		No	ClinGen TOPMed gnomAD
CA351485412 rs1211449144	13	H>R		No	ClinGen gnomAD
rs752538268 CA2258994	13	H>Y		No	ClinGen ExAC gnomAD
CA2258996 rs763822088	15	V>A		No	ClinGen ExAC
CA351485422 rs1479641363	15	V>L		No	ClinGen gnomAD
CA2258998 rs757469065	17	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2258997 rs149484855	17	R>W		No	ClinGen ESP ExAC gnomAD
CA2258999 rs200877703	18	E>A		No	ClinGen 1000Genomes ExAC gnomAD
CA2259000 rs750663542	18	E>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	21	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351485465 rs1393284471	21	Q>H		No	ClinGen gnomAD
TCGA novel	21	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	23	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1559388360 CA351485486	24	F>L		No	ClinGen Ensembl
rs1174768545 CA351485491	25	S>*		No	ClinGen gnomAD
CA2259004 rs769262238	26	H>R		No	ClinGen ExAC gnomAD
CA351485516 rs1297946410	29	A>E		No	ClinGen gnomAD
CA69581076 rs895099366	29	A>S		No	ClinGen TOPMed gnomAD
rs895099366 CA69581077	29	A>T		No	ClinGen TOPMed gnomAD
CA69581083 rs940681269	30	N>D		No	ClinGen TOPMed
CA351485528 rs1575518880	31	S>C		No	ClinGen Ensembl
CA351485534 rs1397666738	32	K>Q		No	ClinGen gnomAD
CA351485538 rs1392716179	32	K>R		No	ClinGen gnomAD
CA2259005 rs529801315	33	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1305681632 CA351485556	35	T>N		No	ClinGen gnomAD
CA2259009 rs2305296	36	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1575518900 CA351485574	38	K>E		No	ClinGen Ensembl
rs1222235790 CA351485602	41	Q>R		No	ClinGen gnomAD
rs771416926 CA2259011	42	K>N		No	ClinGen ExAC TOPMed gnomAD
rs775083254 CA2259013	43	G>C		No	ClinGen ExAC gnomAD
CA2259012 rs775083254	43	G>S		No	ClinGen ExAC gnomAD
CA351485620 rs1453682107	44	Y>C		No	ClinGen TOPMed gnomAD
CA2259014 rs764087790	47	Y>C		No	ClinGen ExAC gnomAD
CA351485647 rs1241993145	48	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2259015 rs753601501	49	T>I		No	ClinGen ExAC TOPMed gnomAD
CA2259016 rs753601501	49	T>S		No	ClinGen ExAC TOPMed gnomAD
CA2259017 rs765045489	50	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA69581140 rs750943574	50	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA69581142 rs879002626	52	R>G		No	ClinGen Ensembl
CA69582264 rs1054321019	55	H>D		No	ClinGen TOPMed
CA2259036 rs773116580	56	T>K		No	ClinGen ExAC TOPMed gnomAD
CA2259037 rs773116580	56	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1183593936 CA351485852	58	P>H		No	ClinGen TOPMed
CA351485848 rs1166489665	58	P>S		No	ClinGen gnomAD
rs201887789 CA2259040	59	S>A		No	ClinGen ExAC gnomAD
CA351485870 rs1288982956	59	S>F		No	ClinGen gnomAD
CA351485933 rs1292440760	64	G>A		No	ClinGen gnomAD
rs377507004 CA2259043	66	V>M		No	ClinGen ESP ExAC gnomAD
CA351485972 rs1292334058	68	T>P		No	ClinGen gnomAD
rs1215132550 CA351485991	69	M>K		No	ClinGen gnomAD
rs777990573 CA2259044	69	M>V		No	ClinGen ExAC TOPMed gnomAD
CA351486023 rs1261447694	71	H>P		No	ClinGen gnomAD
CA2259045 rs749732034	72	S>G		No	ClinGen ExAC gnomAD
CA351486063 rs1475751559	74	P>S		No	ClinGen gnomAD
rs1559388799 CA351486083	76	P>A		No	ClinGen Ensembl
rs779808828 CA2259047	76	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1311713868 CA351486164	82	H>Y		No	ClinGen TOPMed
rs368353653 CA2259049	85	S>C		No	ClinGen ExAC TOPMed gnomAD
rs748060166 CA2259051	86	E>K		No	ClinGen ExAC TOPMed gnomAD
CA351486233 rs1364284847	91	I>L		No	ClinGen TOPMed
CA2259052 rs769789300	91	I>M		No	ClinGen ExAC gnomAD
rs370633656 CA69582415	94	T>I		No	ClinGen Ensembl
rs1015105869 CA69582423	95	N>D		No	ClinGen TOPMed
CA2259054 rs371007781	97	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2259053 rs371007781	97	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA351486293 rs1575519449	100	G>E		No	ClinGen Ensembl
CA2259056 rs146592017	100	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2259057 rs759843282	101	K>T		No	ClinGen ExAC TOPMed gnomAD
CA2259058 rs374230709	102	R>H		No	ClinGen ExAC TOPMed gnomAD
rs374230709 CA2259059	102	R>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	103	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs556705353 CA2259060	103	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1355963758 CA351486309	103	E>K		No	ClinGen gnomAD
CA351486326 rs1465698217	105	R>T		No	ClinGen gnomAD
rs764705324 CA2259061	106	T>P		No	ClinGen ExAC gnomAD
CA2259063 rs757599810	107	L>W		No	ClinGen ExAC gnomAD
CA351486343 rs1231581093	108	V>D		No	ClinGen gnomAD
rs779146471 CA2259064	109	L>V		No	ClinGen ExAC gnomAD
rs374228706 CA69582488	110	R>G		No	ClinGen ESP TOPMed
CA2259065 COSM162492 rs746602779	110	R>K	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs377539255 CA2259066	111	D>G		No	ClinGen ESP ExAC gnomAD
rs759535304 CA2259067	112	R>*		No	ClinGen ExAC gnomAD
rs576603339 CA2259068	112	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA2259096 rs775808612	113	N>K		No	ClinGen ExAC TOPMed gnomAD
CA2259097 rs760980014	114	L>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs776628532 CA2259099	117	M>T		No	ClinGen ExAC gnomAD
rs1375727927 CA351486761	117	M>V		No	ClinGen TOPMed
rs765702096 CA2259101	122	T>I		No	ClinGen ExAC gnomAD
rs1575520256 CA351486833	122	T>P		No	ClinGen Ensembl
rs541564164 CA2259102	124	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs563158740 CA69584160	124	P>S		No	ClinGen gnomAD
CA351486873 rs1559389426	125	S>N		No	ClinGen Ensembl
CA2259103 rs143627483	126	M>V		No	ClinGen ESP ExAC gnomAD
rs766760450 CA2259104	127	V>M		No	ClinGen ExAC
CA351486907 rs1404052872	128	S>G		No	ClinGen gnomAD
CA2259106 rs755737365	128	S>N		No	ClinGen ExAC gnomAD
CA2259108 rs777324877	132	S>R		No	ClinGen ExAC gnomAD
CA69584232 rs969266359	132	S>T		No	ClinGen TOPMed
rs753356310 CA2259109	134	S>N		No	ClinGen ExAC TOPMed gnomAD
CA351486978 rs753356310	134	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1575520297 CA351486987	135	D>A		No	ClinGen Ensembl
CA2259112 rs372538092	135	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs372538092 CA2259111	135	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	139	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	141	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351487052 rs1280418617	141	E>K		No	ClinGen gnomAD
rs780004934 CA2259114	142	M>V		No	ClinGen ExAC gnomAD
rs768823128 CA2259116 COSM1291592	144	P>L	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2259115 rs375540711	144	P>S		No	ClinGen ESP ExAC TOPMed
rs145692300 CA2259119	145	H>R		No	ClinGen ESP ExAC gnomAD
rs1575520327 CA351487143	149	D>Y		No	ClinGen Ensembl
TCGA novel	150	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351487152 rs1337238656	150	A>T		No	ClinGen TOPMed
CA2259120 rs773667504	150	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA351487174 rs1474768891	152	R>G		No	ClinGen gnomAD
rs766674716 CA2259122	154	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1575520342 CA351487209	155	L>F		No	ClinGen Ensembl
CA351487215 rs1288178028	156	D>N		No	ClinGen TOPMed gnomAD
CA351487217 rs1288178028	156	D>Y		No	ClinGen TOPMed gnomAD
rs760372139 CA2259125	157	D>E		No	ClinGen ExAC TOPMed gnomAD
CA2259123 rs774755738	157	D>V		No	ClinGen ExAC TOPMed gnomAD
CA2259126 rs753370925 COSM173088	158	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2259128 rs368945512	161	S>N		No	ClinGen ESP ExAC gnomAD
CA2259129 rs750325744	163	S>C		No	ClinGen ExAC gnomAD
CA2259131 rs373294185	167	E>K		No	ClinGen ExAC TOPMed gnomAD
rs995849708 CA69584329	169	Q>E		No	ClinGen Ensembl
CA351487385 rs1218634359	171	C>Y		No	ClinGen gnomAD
CA2259135 rs748431588	174	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1258095368 CA351487433	175	A>V		No	ClinGen gnomAD
rs1444278714 CA351487442	176	A>V		No	ClinGen gnomAD
CA351487447 rs1575520379	177	G>E		No	ClinGen Ensembl
rs769797562 CA351487444	177	G>R		No	ClinGen ExAC TOPMed gnomAD
rs769797562 CA2259136	177	G>W		No	ClinGen ExAC TOPMed gnomAD
rs1379719159 CA351487456	178	E>A		No	ClinGen gnomAD
rs773294936 CA2259137	178	E>D		No	ClinGen ExAC gnomAD
TCGA novel	179	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771495910 CA2259140	180	R>L		No	ClinGen ExAC TOPMed gnomAD
CA2259139 rs771495910	180	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs749783897 CA2259138	180	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1389261039 CA351487513	183	D>V		No	ClinGen gnomAD
rs761535028 CA2259144	185	C>F		No	ClinGen ExAC gnomAD
rs1376938164 CA351487558	187	Y>C		No	ClinGen gnomAD
CA351487569 rs1411047279	188	L>R		No	ClinGen gnomAD
rs1338599197 CA351487587	190	G>E		No	ClinGen TOPMed
CA2259146 rs750017482	190	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1333488546 CA351487600	191	E>D		No	ClinGen TOPMed
rs1347057742 CA351487591	191	E>K		No	ClinGen gnomAD
CA351487669 rs1233890080	197	R>S		No	ClinGen gnomAD
CA351487673 rs1257484345	198	L>V		No	ClinGen gnomAD
rs758375791 CA2259147	200	V>A		No	ClinGen ExAC gnomAD
rs758375791 CA351487699	200	V>D		No	ClinGen ExAC gnomAD
rs1372177085 CA351487695	200	V>I		No	ClinGen TOPMed
CA2259148 rs766464877	201	L>S		No	ClinGen ExAC gnomAD
CA351487717 rs1166882446	202	H>R		No	ClinGen TOPMed
CA2259149 rs141069425	202	H>Y		No	ClinGen ESP ExAC gnomAD
rs781042848 CA69584493	203	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2259151 rs781042848	203	P>T		No	ClinGen ExAC TOPMed gnomAD
rs138757842 CA351487731	204	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351487733 rs1379680230	205	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA351487778 rs1460813714	210	K>N		No	ClinGen TOPMed gnomAD
CA2259154 rs777825929	211	A>P		No	ClinGen ExAC gnomAD
rs749411483 CA2259155	211	A>V		No	ClinGen ExAC TOPMed gnomAD
CA351487783 rs771408414	212	H>N		No	ClinGen ExAC TOPMed gnomAD
rs1250085365 CA351487786	212	H>R		No	ClinGen TOPMed
CA2259156 rs771408414	212	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA2259158 rs746420311	213	E>G		No	ClinGen ExAC TOPMed gnomAD
CA351487801 rs1387231171	214	K>R		No	ClinGen gnomAD
CA351487819 rs1559390497	215	I>F		No	ClinGen Ensembl
rs1424091322 CA351487828	216	C>F		No	ClinGen gnomAD
CA351487825 rs1351537303	216	C>R		No	ClinGen gnomAD
CA351487836 rs996244053	217	M>R		No	ClinGen TOPMed
rs996244053 CA69586542	217	M>T		No	ClinGen TOPMed
CA351487833 rs1314913008	217	M>V		No	ClinGen Ensembl
CA2259181 rs772958057	219	T>M		No	ClinGen ExAC TOPMed gnomAD
CA351487850 rs772958057	219	T>R		No	ClinGen ExAC TOPMed gnomAD
rs769162650 CA2259180	219	T>S		No	ClinGen ExAC gnomAD
rs756518735 CA2259183	220	F>L		No	ClinGen ExAC TOPMed gnomAD
CA2259184 rs199957684	221	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA2259185 rs759387933	222	H>N		No	ClinGen ExAC gnomAD
rs1283429536 CA351487867	222	H>R		No	ClinGen gnomAD
rs752468173 CA2259187	223	E>K	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1018508715 CA69586589	224	M>T		No	ClinGen gnomAD
rs1429459065 CA351487908	227	A>V		No	ClinGen TOPMed
rs760416660 CA2259188	228	F>I		No	ClinGen ExAC gnomAD
rs763909962 CA351487919	229	A>D		No	ClinGen ExAC gnomAD
rs763909962 CA2259189	229	A>V		No	ClinGen ExAC gnomAD
rs1489585103 CA351487931	231	Q>*		No	ClinGen gnomAD
CA351487941 rs1264346390	232	A>G		No	ClinGen TOPMed
rs1483333261 CA351487979	237	V>A		No	ClinGen gnomAD
CA351487983 rs1203786185	238	C>G		No	ClinGen TOPMed
rs1438570246 CA351487990	239	S>G		No	ClinGen gnomAD
rs750552243 CA2259194	239	S>I		No	ClinGen ExAC gnomAD
CA2259197 rs181470563	244	V>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780558215 CA2259196	244	V>M		No	ClinGen ExAC gnomAD
CA351488045 rs111242912	247	E>K		No	ClinGen gnomAD
CA69586647 rs111242912	247	E>Q		No	ClinGen gnomAD
CA2259200 rs748934114	249	A>S		No	ClinGen ExAC gnomAD
CA2259202 rs773703138	250	S>C		No	ClinGen ExAC gnomAD
rs1356461625 CA351488070	251	A>P		No	ClinGen gnomAD
CA2259203 rs745433733	252	S>A		No	ClinGen ExAC gnomAD
TCGA novel	253	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1483944570 CA351488090	254	R>K		No	ClinGen gnomAD
CA351488123 rs1232497849	257	G>V		No	ClinGen TOPMed
CA351488161 rs1211750291 COSM321695	261	N>S	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1457077257 CA351488183	262	C>W		No	ClinGen gnomAD
rs775369453 CA2259205	265	T>M		No	ClinGen ExAC gnomAD
CA351488255 rs1380329457	266	Y>D		No	ClinGen TOPMed
CA351488320 rs1452439273	269	S>A		No	ClinGen gnomAD
rs1436642457 CA351488323	269	S>Y		No	ClinGen TOPMed
CA2259207 rs763822142	272	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA69586781 rs376766572	272	R>W		No	ClinGen ESP TOPMed gnomAD
CA351488439 rs1462909584	274	W>*		No	ClinGen TOPMed
COSM162491 rs1398362564 CA351488454	275	R>Q	pancreas breast [Cosmic]	No	ClinGen cosmic curated gnomAD
rs913340676 CA69586814	275	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA351488458 rs1575521567	276	C>G		No	ClinGen Ensembl
CA2259209 rs761905778	276	C>Y		No	ClinGen ExAC gnomAD
CA351488485 rs1332047987	277	A>V		No	ClinGen TOPMed gnomAD
rs765541282 CA2259210	278	K>R		No	ClinGen ExAC gnomAD
CA2259211 rs750630756	281	E>G		No	ClinGen ExAC TOPMed gnomAD
CA351488599 rs766570091	283	P>L		No	ClinGen ExAC TOPMed gnomAD
rs766570091 CA2259213	283	P>R		No	ClinGen ExAC TOPMed gnomAD
rs758461096 CA2259212	283	P>S		No	ClinGen ExAC gnomAD
rs34020239 CA2259214	284	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2259215 rs772310390	285	I>V		No	ClinGen ExAC TOPMed gnomAD
CA2259239 rs758109302	290	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1296924332 CA351489418	292	R>H		No	ClinGen TOPMed gnomAD
rs1400973236 CA351489427	293	V>M		No	ClinGen gnomAD
rs1346193567 CA351489465	294	I>R		No	ClinGen TOPMed
rs768173494 CA2259242	296	E>Q		No	ClinGen ExAC gnomAD
rs1243621439 CA351489651	302	V>M		No	ClinGen gnomAD
CA69588352 rs1022572489	303	Y>*		No	ClinGen TOPMed
CA351489743 rs1282019307	306	E>A		No	ClinGen TOPMed
rs748037894 CA2259245	306	E>K		No	ClinGen ExAC gnomAD
rs769572758 CA2259246	307	D>H		No	ClinGen ExAC gnomAD
CA351489768 rs969721898	308	Q>E		No	ClinGen gnomAD
CA69588360 rs969721898	308	Q>K		No	ClinGen gnomAD
rs576816123 CA2259247	310	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs368181313 CA2259248	312	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1575522405 CA351489882	313	E>G		No	ClinGen Ensembl
rs146239380 CA2259250	313	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1304013013 CA351489918	315	I>T		No	ClinGen gnomAD
rs1369092980 CA351489952	317	A>V		No	ClinGen gnomAD
TCGA novel	319	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351489988 rs1446491517	319	K>Q		No	ClinGen gnomAD
CA351490050 rs1380216886	320	Q>R		No	ClinGen gnomAD
CA2259252 rs759640395	321	G>R		No	ClinGen ExAC gnomAD
CA351490164 rs1225485766	323	G>A		No	ClinGen TOPMed gnomAD
rs1225485766 CA351490162	323	G>E		No	ClinGen TOPMed gnomAD
CA69588442 CA351490158 rs983610273	323	G>R		No	ClinGen TOPMed gnomAD
CA351492183 rs1448836828	324	K>E		No	ClinGen gnomAD
rs759843454 CA2259272	324	K>R		No	ClinGen ExAC gnomAD
rs1377010344	326	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA351492268 rs1276496686	327	C>G		No	ClinGen Ensembl
rs1233688368 CA351492286	328	K>Q		No	ClinGen gnomAD
rs200099008 CA2259274	331	E>A		No	ClinGen ExAC TOPMed gnomAD
rs200099008 CA69593419	331	E>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	331	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2259275 rs761244775	332	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA351492403 rs1187935437	333	G>S		No	ClinGen TOPMed gnomAD
CA2259276 rs764553418	334	K>E		No	ClinGen ExAC gnomAD
rs377258741 CA69593434	335	G>E		No	ClinGen ESP
TCGA novel	339	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1458298640 CA351492581	342	K>Q		No	ClinGen gnomAD
CA351492637 rs1265035188	344	L>F		No	ClinGen TOPMed
CA351492682 rs1265853558	345	Y>*		No	ClinGen gnomAD
rs1179063547 CA351492654	345	Y>H		No	ClinGen gnomAD
CA351492689 rs1433169849	346	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA351492695 rs1200016228	346	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1431908763 CA351492714	347	H>R		No	ClinGen gnomAD
rs1389918644 CA351492786	351	D>A		No	ClinGen gnomAD
rs1389918644 CA351492787	351	D>G		No	ClinGen gnomAD
CA2259280 COSM445509 rs751152524	351	D>N	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2259281 rs143667351	352	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA2259282 rs767047906	353	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1303067523 CA351492812	353	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs929328808 CA69593471	356	E>K		No	ClinGen gnomAD
rs1255557037 CA351492861	357	P>S		No	ClinGen TOPMed
rs1277769509 CA351492870	358	E>*		No	ClinGen gnomAD
CA2259283 rs752188758	360	P>L		No	ClinGen ExAC gnomAD
CA2259285 rs550723509	361	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756056145 CA2259284	361	R>W		No	ClinGen ExAC gnomAD
rs1575524955 CA351492924	362	K>Q		No	ClinGen Ensembl
rs139232383 CA2259286	366	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA351493029 rs1399736875	368	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA2259287 rs757047504	369	T>I		No	ClinGen ExAC TOPMed gnomAD
rs200170747 CA2259289	371	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA2259290 rs772253093	371	R>S		No	ClinGen ExAC gnomAD
rs757324461 CA2259304	372	F>L		No	ClinGen ExAC gnomAD
rs1310104345 CA351493099	373	F>L		No	ClinGen TOPMed gnomAD
CA2259305 rs778850304	374	N>H		No	ClinGen ExAC gnomAD
rs1559393585 CA351493109	374	N>S		No	ClinGen Ensembl
CA2259307 rs568939214	376	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2259309 rs763839801	377	R>G		No	ClinGen ExAC gnomAD
rs1317334247 CA351493126	377	R>L		No	ClinGen TOPMed gnomAD
rs1317334247 CA351493124	377	R>Q		No	ClinGen TOPMed gnomAD
CA2259308 rs763839801	377	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1469336385 CA351493129	378	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs776746748 CA2259311	379	W>L		No	ClinGen ExAC gnomAD
rs1575525196 CA351493147	380	D>G		No	ClinGen Ensembl
rs1287134904 CA351493142	380	D>H		No	ClinGen gnomAD
CA69593887 rs200932174	381	F>I		No	ClinGen TOPMed gnomAD
CA351493170 rs1267154367	381	F>S		No	ClinGen TOPMed gnomAD
CA351493190 rs1208519255	382	I>T		No	ClinGen gnomAD
rs770324733 CA2259313	383	E>K		No	ClinGen ExAC TOPMed gnomAD
rs773542680 CA2259314	385	R>*		No	ClinGen ExAC gnomAD
rs763253408 CA2259315	385	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs5746260 VAR_052085 CA2259318	388	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2259317 rs774940495	388	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2259320 rs201937482	390	V>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs765319030 CA2259322	392	N>S		No	ClinGen ExAC TOPMed gnomAD
CA2259323 rs574950012	393	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA2259324 rs147922124	396	V>I		No	ClinGen ESP ExAC gnomAD
rs554403152 CA2259326	397	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs554403152 CA351493431	397	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA2259327 rs554403152	397	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1669974 rs748274877 CA2259329	398	M>V	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA351493491 rs1575525277	400	E>A		No	ClinGen Ensembl
rs141655993 CA2259331	400	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769883610 CA2259330	400	E>Q		No	ClinGen ExAC gnomAD
CA2259334 rs771144793	402	G>R		No	ClinGen ExAC gnomAD
CA2259335 rs546564318	403	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA351493564 rs1477039101	405	F>C		No	ClinGen gnomAD
rs1190348806 CA351493582	406	M>L		No	ClinGen gnomAD
rs768466464 CA351493602	407	H>N		No	ClinGen ExAC gnomAD
rs768466464 CA2259337	407	H>Y		No	ClinGen ExAC gnomAD
CA2259339 rs761362510	408	L>P		No	ClinGen ExAC TOPMed gnomAD
rs764840705 CA2259340	411	V>M		No	ClinGen ExAC gnomAD
rs750325629 CA2259341	414	S>P		No	ClinGen ExAC gnomAD
CA351493796 rs1346560043	416	P>H		No	ClinGen gnomAD
rs763002762	417	P>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs763002762 CA2259344	417	P>S		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q9H000

8 regional properties for Q9H000

Type	Name	Position	InterPro Accession
domain	Zinc finger, CCCH-type	2 - 29	IPR000571-1
domain	Zinc finger, CCCH-type	31 - 58	IPR000571-2
domain	Zinc finger, CCCH-type	165 - 192	IPR000571-3
domain	Zinc finger, CCCH-type	321 - 350	IPR000571-4
domain	Zinc finger, RING-type	238 - 292	IPR001841
conserved_site	Zinc finger, RING-type, conserved site	262 - 271	IPR017907
domain	Zinc finger, C3HC4 RING-type	238 - 291	IPR018957
domain	E3 ligase, CCCH-type zinc finger	7 - 27	IPR041367

Functions

		Description
EC Number	2.3.2.27	Aminoacyltransferases
Subcellular Localization	Cytoplasm Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

4 GO annotations of molecular function

Name	Definition
LIM domain binding	Binding to a LIM domain (for Lin-11 Isl-1 Mec-3) of a protein, a domain with seven conserved cysteine residues and a histidine, that binds two zinc ions and acts as an interface for protein-protein interactions.
metal ion binding	Binding to a metal ion.
RNA binding	Binding to an RNA molecule or a portion thereof.
ubiquitin protein ligase activity	Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond: an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate or, in the linear extension of ubiquitin chains, a peptide bond the between the C-terminal glycine and N-terminal methionine of ubiquitin residues.

10 GO annotations of biological process

Name	Definition
cell differentiation	The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
DNA-templated transcription	The synthesis of an RNA transcript from a DNA template.
negative regulation of inflammatory response to antigenic stimulus	Any process that stops, prevents, or reduces the frequency, rate, or extent of an inflammatory response to an antigenic stimulus.
negative regulation of NIK/NF-kappaB signaling	Any process that stops, prevents or reduces the frequency, rate or extent of NIK/NF-kappaB signaling.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
positive regulation of transcription factor catabolic process	Any process that activates or increases the frequency, rate or extent of transcription factor catabolic process.
protein kinase B signaling	A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase B (also called AKT), which occurs as a result of a single trigger reaction or compound.
protein polyubiquitination	Addition of multiple ubiquitin groups to a protein, forming a ubiquitin chain.
protein ubiquitination	The process in which one or more ubiquitin groups are added to a protein.
spermatogenesis	The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9ERV1	Mkrn2	E3 ubiquitin-protein ligase makorin-2	Mus musculus (Mouse)	PR
Q6GLD9	mkrn2	E3 ubiquitin-protein ligase makorin-2	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR

10	20	30	40	50	60
MSTKQITCRY	FMHGVCREGS	QCLFSHDLAN	SKPSTICKYY	QKGYCAYGTR	CRYDHTRPSA
70	80	90	100	110	120
AAGGAVGTMA	HSVPSPAFHS	PHPPSEVTAS	IVKTNSHEPG	KREKRTLVLR	DRNLSGMAER
130	140	150	160	170	180
KTQPSMVSNP	GSCSDPQPSP	EMKPHSYLDA	IRSGLDDVEA	SSSYSNEQQL	CPYAAAGECR
190	200	210	220	230	240
FGDACVYLHG	EVCEICRLQV	LHPFDPEQRK	AHEKICMLTF	EHEMEKAFAF	QASQDKVCSI
250	260	270	280	290	300
CMEVILEKAS	ASERRFGILS	NCNHTYCLSC	IRQWRCAKQF	ENPIIKSCPE	CRVISEFVIP
310	320	330	340	350	360
SVYWVEDQNK	KNELIEAFKQ	GMGKKACKYF	EQGKGTCPFG	SKCLYRHAYP	DGRLAEPEKP
370	380	390	400	410
RKQLSSQGTV	RFFNSVRLWD	FIENRESRHV	PNNEDVDMTE	LGDLFMHLSG	VESSEP