AiPD: Autoinhibited Protein Database

Q9Y2M2

Gene name	SSUH2
Protein name	Protein SSUH2 homolog
Names	Protein ssu-2 homolog
Species	Homo sapiens (Human)
KEGG Pathway	hsa:51066
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-235 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-235 (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 Q9Y2M2

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9Y2M2-F1	Predicted				AlphaFoldDB

369 variants for Q9Y2M2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA351664449 rs1436183101	3	R>G		No	ClinGen gnomAD
CA2236203 rs778404096	3	R>S		No	ClinGen ExAC TOPMed
CA69837958 rs1017609098	8	D>E		No	ClinGen TOPMed gnomAD
CA2236202 rs756558185	8	D>G		No	ClinGen ExAC gnomAD
rs1008035076 CA69837956	9	D>N		No	ClinGen Ensembl
CA2236200 rs767830883	10	S>G		No	ClinGen ExAC TOPMed gnomAD
CA351663077 rs1258444970	13	D>N		No	ClinGen gnomAD
rs999773407 CA69834218	14	L>F		No	ClinGen TOPMed gnomAD
rs1187460231 CA351663067	14	L>R		No	ClinGen TOPMed gnomAD
CA351663070 rs999773407	14	L>V		No	ClinGen TOPMed gnomAD
rs773994139 CA69834215	17	E>K		No	ClinGen gnomAD
rs901393742 CA351663039	18	A>G		No	ClinGen TOPMed gnomAD
CA351663042 rs1264284059	18	A>P		No	ClinGen gnomAD
CA69834212 rs901393742	18	A>V		No	ClinGen TOPMed gnomAD
CA69834208 rs1011957176	19	E>*		No	ClinGen TOPMed gnomAD
CA351663037 rs1011957176	19	E>K		No	ClinGen TOPMed gnomAD
rs1011957176 CA351663038	19	E>Q		No	ClinGen TOPMed gnomAD
CA351663012 rs1575156278	23	A>T		No	ClinGen Ensembl
rs776600879 CA2236192	23	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1292187213 CA351663006	24	P>A		No	ClinGen TOPMed gnomAD
CA351663004 rs60723042	24	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV000966153 CA2236191 rs60723042	24	P>L		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA2236189 rs779910682	25	P>H		No	ClinGen ExAC gnomAD
rs746673245 CA2236190	25	P>S		No	ClinGen ExAC
CA351662948 rs1167057023	33	P>L		No	ClinGen gnomAD
CA351662949 rs1167057023	33	P>R		No	ClinGen gnomAD
CA351662951 rs1382629213	33	P>S		No	ClinGen gnomAD
rs1160141616 CA351662935	35	Y>C		No	ClinGen TOPMed
rs1385191163 CA351662899	40	Q>R		No	ClinGen TOPMed
CA351662890 rs1352198389	41	G>A		No	ClinGen TOPMed gnomAD
rs891245065 CA69834175	43	R>G		No	ClinGen Ensembl
rs1325228992 CA351662865	44	G>R		No	ClinGen gnomAD
CA2236184 rs200551193	47	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200551193 CA351662844	47	F>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1421858742 CA351662842	47	F>Y		No	ClinGen gnomAD
rs547576602 CA351662825	49	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2236183 rs547576602	49	P>R		No	ClinGen ExAC TOPMed gnomAD
rs2276800 VAR_033659	50	P>L		No	UniProt dbSNP
CA351662800 rs1475236376	53	A>V		No	ClinGen gnomAD
rs1195967275 CA351662793	54	P>L		No	ClinGen gnomAD
CA351662794 rs1195967275	54	P>R		No	ClinGen gnomAD
rs1056129746 CA69833994	54	P>S		No	ClinGen TOPMed gnomAD
CA351662784 rs1252931036	56	R>K		No	ClinGen gnomAD
rs1218676054 CA351662777	57	P>S		No	ClinGen gnomAD
rs1439072983 CA351662771	58	Q>*		No	ClinGen gnomAD
rs1194856742 CA351662766	58	Q>H		No	ClinGen gnomAD
rs1273150002 CA351662769	58	Q>L		No	ClinGen TOPMed gnomAD
rs1273150002 CA351662768	58	Q>R		No	ClinGen TOPMed gnomAD
CA351662761 rs1559381488	59	E>G		No	ClinGen Ensembl
rs561514250 CA69833985	60	Q>H		No	ClinGen Ensembl
CA69833982 rs939047755	61	R>G		No	ClinGen TOPMed gnomAD
CA69833979 rs1025349566	61	R>K		No	ClinGen TOPMed gnomAD
CA351662733 rs1475845947	63	W>*		No	ClinGen TOPMed
rs1559381249 CA351662734	63	W>*		No	ClinGen Ensembl
rs1234755962 CA351662729	64	P>A		No	ClinGen gnomAD
CA351662721 rs1176966672	65	S>L		No	ClinGen TOPMed
CA351662704 rs772270942	68	E>K		No	ClinGen TOPMed
CA69833973 rs772270942	68	E>Q		No	ClinGen TOPMed
CA351662698 rs748297224	69	H>N		No	ClinGen TOPMed gnomAD
CA351662696 rs1432927856	69	H>P		No	ClinGen TOPMed
CA69833971 rs748297224	69	H>Y		No	ClinGen TOPMed gnomAD
CA351661858 rs1575135133	70	R>S		No	ClinGen Ensembl
rs945410654 CA69833101	72	P>S		No	ClinGen TOPMed
rs748228423 CA2236100	73	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
rs150785183 CA2236098	75	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779838788 CA351661802	76	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs779838788 CA2236096	76	E>K		No	ClinGen ExAC gnomAD
CA351661782 rs1424637147	77	E>V		No	ClinGen TOPMed
rs758248644 CA2236095	78	V>A		No	ClinGen ExAC gnomAD
rs1274939978 CA351661774	78	V>L		No	ClinGen gnomAD
rs750214948 CA2236094	79	A>T	Variant assessed as Somatic; 4.65e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA351661755 rs576086245	80	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2236091 rs142217483	80	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs576086245 CA2236092	80	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1421374732 CA351661745	81	E>*		No	ClinGen TOPMed
CA2236090 rs763617217	81	E>G		No	ClinGen ExAC gnomAD
rs112366230 CA351661735	82	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs112366230 RCV000963287 CA2236089	82	A>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2236088 rs532621810	83	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1369078693 CA351661698	85	S>G		No	ClinGen gnomAD
rs773677811 CA2236085	85	S>N		No	ClinGen ExAC gnomAD
rs1559362916 CA351661679	86	F>S		No	ClinGen Ensembl
CA2236084 rs571846130	89	S>C		No	ClinGen 1000Genomes ExAC gnomAD
rs1170245041 CA351661617	90	K>E		No	ClinGen TOPMed gnomAD
rs748366104 CA2236083	90	K>N		No	ClinGen ExAC gnomAD
rs1251960867 CA351661587	91	C>Y		No	ClinGen TOPMed gnomAD
rs961714575 CA69833050	93	Y>S		No	ClinGen TOPMed gnomAD
rs1240322952 CA351661523	94	S>N		No	ClinGen TOPMed
CA351661510 rs1406097243	95	S>G		No	ClinGen gnomAD
rs747080476 CA2236080	96	T>K		No	ClinGen ExAC TOPMed gnomAD
rs747080476 CA2236079	96	T>M		No	ClinGen ExAC TOPMed gnomAD
rs758301597 CA2236077	97	V>E		No	ClinGen ExAC TOPMed gnomAD
rs778720971 CA2236074	100	D>E		No	ClinGen ExAC TOPMed gnomAD
CA2236072 rs753462799	101	L>H		No	ClinGen ExAC TOPMed gnomAD
CA2236073 rs753462799	101	L>P		No	ClinGen ExAC TOPMed gnomAD
rs755706069 CA2236070	102	V>I		No	ClinGen ExAC TOPMed gnomAD
rs767030729 CA2236068	103	I>L		No	ClinGen ExAC gnomAD
rs137978829 CA2236065	103	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763508344 CA2236067	103	I>N		No	ClinGen ExAC gnomAD
rs1359533489 CA351661269	105	E>*		No	ClinGen TOPMed
CA2236064 rs761958571	105	E>G		No	ClinGen ExAC gnomAD
rs1359533489 CA351661274	105	E>K		No	ClinGen TOPMed
rs768757725 CA351661238	108	R>L		No	ClinGen ExAC TOPMed gnomAD
rs768757725 CA2236062	108	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2236063 rs776971510	108	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2236059 rs749444916	109	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs749444916 CA2236060	109	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs745765139 CA2236058	110	T>N		No	ClinGen ExAC gnomAD
rs757018233 CA2236056	111	L>F		No	ClinGen ExAC gnomAD
CA351661111 rs1455578528	114	Y>C		No	ClinGen gnomAD
rs764401008 CA2236023	115	R>C		No	ClinGen ExAC TOPMed gnomAD
rs138323827 CA2236022	115	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351661104 rs138323827	115	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351661096 rs1245228440	117	E>K		No	ClinGen gnomAD
CA69831992 rs1045055884	120	S>N		No	ClinGen TOPMed
CA351661069 rs1161232958	121	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2236019 rs759676557	122	S>Y		No	ClinGen ExAC gnomAD
CA351661047 rs1406986393	124	I>V		No	ClinGen TOPMed gnomAD
CA2236017 rs770947063	125	S>G		No	ClinGen ExAC gnomAD
rs578003922 CA351661036	125	S>R		No	ClinGen TOPMed gnomAD
CA2236016 rs369955843	126	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA2236015 rs369955843	126	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs769659851 CA2236014	130	Q>*		No	ClinGen ExAC gnomAD
rs1305371716 CA351660979	133	T>I		No	ClinGen TOPMed
CA2236012 rs781061937	134	N>D		No	ClinGen ExAC gnomAD
CA351660964 rs1327993193	134	N>S		No	ClinGen TOPMed gnomAD
rs758678140 CA69831342	138	D>V		No	ClinGen Ensembl
rs1286107880 CA351660938	138	D>Y		No	ClinGen gnomAD
CA2235980 rs755256111	139	G>R		No	ClinGen ExAC gnomAD
CA2235978 rs140981580	140	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_078099 CA2235977 rs140981580	140	P>Q	probable disease-associated variant found in patients with dentin dysplasia; decreased protein abundance; no effect on nuclear localization [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA351660926 rs1385341281	140	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1189772564 CA351660919	141	Q>L		No	ClinGen TOPMed
rs1189772564 CA351660920	141	Q>R		No	ClinGen TOPMed
rs765315124 CA2235975	142	R>K		No	ClinGen ExAC gnomAD
rs150281754 CA2235974	144	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1157023175 CA351660899	145	S>T		No	ClinGen gnomAD
rs1459692795 CA351660894	145	S>Y		No	ClinGen gnomAD
rs1471981438 CA351660887	147	R>G		No	ClinGen TOPMed
CA351660882 rs1165367053	147	R>S		No	ClinGen TOPMed
rs148094280 CA2235973	148	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs977417101 CA69831323	149	W>*		No	ClinGen gnomAD
rs538450571 RCV000895983	150	D>missing		No	ClinVar dbSNP
CA351660866 rs1380721955	150	D>Y		No	ClinGen gnomAD
CA69831319 rs916756795	153	V>I		No	ClinGen TOPMed
rs763728763 CA2235971	155	G>S		No	ClinGen ExAC TOPMed gnomAD
CA2235969 rs374997266	157	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA351660814 rs1356614260	158	M>L		No	ClinGen gnomAD
CA351660796 rs1575107010	160	Q>*		No	ClinGen Ensembl
CA2235966 rs773824761	161	E>D		No	ClinGen ExAC gnomAD
rs146804066 CA2235967	161	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770304689 CA2235965	163	T>I		No	ClinGen ExAC TOPMed gnomAD
CA2235964 rs748611809	164	R>S		No	ClinGen ExAC gnomAD
CA2235963 rs781553570	165	K>M		No	ClinGen ExAC gnomAD
CA69831295 rs1021690148	170	H>R		No	ClinGen TOPMed
CA2235961 rs747399972	171	S>A		No	ClinGen ExAC gnomAD
CA2235960 rs371209487	171	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA69831287 rs985519196	173	L>R		No	ClinGen TOPMed gnomAD
rs1169763164 CA351660709	174	V>D		No	ClinGen gnomAD
rs757266021 CA2235957	174	V>F		No	ClinGen ExAC TOPMed gnomAD
rs757266021 CA2235956	174	V>I		No	ClinGen ExAC TOPMed gnomAD
rs757266021 CA2235958	174	V>L		No	ClinGen ExAC TOPMed gnomAD
rs529962575 CA2235955	175	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1353160473 CA351660664	178	H>L		No	ClinGen gnomAD
CA351660667 rs1353160473	178	H>R		No	ClinGen gnomAD
rs1336692921 CA351660657	179	K>R		No	ClinGen gnomAD
rs769066426 CA2235925	180	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA351660640 rs1575097774	181	H>Q		No	ClinGen Ensembl
CA2235923 rs775724130	181	H>R		No	ClinGen ExAC TOPMed gnomAD
CA2235921 rs111764726	183	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs113259595 CA2235920	183	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2235919 rs113259595	183	R>L		No	ClinGen ExAC TOPMed gnomAD
rs910009565 CA69830671	184	G>E		No	ClinGen gnomAD
CA2235916 rs562702991	185	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777857400 CA2235917	185	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1441771126 CA351660618	186	Y>C		No	ClinGen gnomAD
rs544405168 CA2235915	188	C>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1201909280 CA351660604	188	C>Y		No	ClinGen gnomAD
CA2235913 rs532787180	190	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1371560062 CA351660579	191	C>W		No	ClinGen gnomAD
CA2235912 CA351660572 rs766073066	192	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs144988627 CA2235910	193	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs147390828 CA2235909	194	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2235906 rs776124232	195	G>C		No	ClinGen ExAC
rs374057062 CA2235905	195	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs979528863 CA69830590	196	T>M		No	ClinGen TOPMed gnomAD
CA351660535 rs1575079662	197	V>G		No	ClinGen Ensembl
rs1222625336 CA351660540	197	V>M		No	ClinGen gnomAD
rs891572142 CA69828980	198	R>Q		No	ClinGen TOPMed
rs377451237 CA2235871	198	R>W	Variant assessed as Somatic; 4.673e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA351660529 rs1575079561	199	C>G		No	ClinGen Ensembl
rs752000182 CA2235870	203	C>R		No	ClinGen ExAC gnomAD
CA69828958 rs139675767	204	G>E		No	ClinGen Ensembl
CA2235868 rs763094413	204	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs374521608 CA2235867	207	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2235866 rs769878746	207	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1363414365 CA351660463	209	A>G		No	ClinGen TOPMed gnomAD
rs762005243 CA2235865	209	A>T		No	ClinGen ExAC gnomAD
rs1363414365 CA351660462	209	A>V		No	ClinGen TOPMed gnomAD
rs1458134339 CA351660446	211	Q>H		No	ClinGen TOPMed
rs1430318337 CA351660449	211	Q>R		No	ClinGen gnomAD
rs746882683 CA2235862	212	S>C		No	ClinGen ExAC TOPMed gnomAD
CA2235863 rs768615616	212	S>P		No	ClinGen ExAC TOPMed gnomAD
rs746882683 CA351660443	212	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA351660441 rs779838642	213	R>G		No	ClinGen ExAC TOPMed gnomAD
rs377685481 CA2235860	213	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2235861 rs779838642	213	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1172169831 CA351660429	215	C>R		No	ClinGen TOPMed
CA2235857 rs778665877	216	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA2235853 rs142057178	219	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777374175 CA2235854	219	A>T		No	ClinGen ExAC TOPMed gnomAD
rs142057178 RCV000883703 CA2235852	219	A>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs750734268 CA2235849	220	G>E		No	ClinGen ExAC gnomAD
CA351660400 rs1326096340	220	G>R		No	ClinGen TOPMed
rs750734268 CA2235850	220	G>V		No	ClinGen ExAC gnomAD
rs1395544252 CA351660388	222	G>D		No	ClinGen gnomAD
rs373708901 CA2235847	222	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2235845 rs151201843	224	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760731511 CA2235844	224	R>Q		No	ClinGen ExAC gnomAD
CA2235812 rs780531167	228	T>A		No	ClinGen ExAC gnomAD
rs758953371 CA2235811	230	S>*		No	ClinGen ExAC TOPMed gnomAD
CA2235809 rs779463006	232	R>T		No	ClinGen ExAC TOPMed gnomAD
rs757686467 CA2235808	234	N>K		No	ClinGen ExAC TOPMed gnomAD
CA2235807 rs754173462	235	K>R		No	ClinGen ExAC TOPMed gnomAD
CA2235806 rs764347542	236	T>N		No	ClinGen ExAC gnomAD
rs756278575 CA2235805	237	C>R		No	ClinGen ExAC TOPMed gnomAD
rs767428753 CA2235803	238	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA351660279 rs1344306423	238	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2235801 rs766332544	239	T>I		No	ClinGen ExAC gnomAD
rs766332544 CA2235800	239	T>N		No	ClinGen ExAC gnomAD
rs759526640 CA2235802	239	T>P		No	ClinGen ExAC TOPMed gnomAD
rs61752303 CA69827461	241	K>E		No	ClinGen Ensembl
CA351660258 CA69827443 rs868555342	242	G>R		No	ClinGen gnomAD
CA2235797 rs769604850	248	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1370860403 CA351660196	250	I>M		No	ClinGen gnomAD
CA351660197 rs1474769581	250	I>S		No	ClinGen gnomAD
rs1167954546 CA351660201	250	I>V		No	ClinGen TOPMed gnomAD
rs1200472034 CA351660195	251	Q>E		No	ClinGen gnomAD
rs776222458 CA2235795	252	L>P		No	ClinGen ExAC
rs1480599067 CA351660180	253	V>F		No	ClinGen gnomAD
rs1480599067 CA351660182	253	V>I		No	ClinGen gnomAD
rs768109639 CA2235793	254	I>V		No	ClinGen ExAC TOPMed gnomAD
CA2235790 rs368322528	255	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA351660170 rs929749700	255	M>L		No	ClinGen TOPMed gnomAD
rs779330228 CA2235792	255	M>R		No	ClinGen ExAC TOPMed gnomAD
rs779330228 CA2235791	255	M>T		No	ClinGen ExAC TOPMed gnomAD
rs929749700 CA69827413	255	M>V		No	ClinGen TOPMed gnomAD
rs748540146 CA2235765	258	N>K		No	ClinGen ExAC gnomAD
CA2235764 rs59315778	259	S>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs59315778 CA2235763	259	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs993797453 CA69826656	260	L>F		No	ClinGen TOPMed gnomAD
rs201784318 CA69826644	261	F>L		No	ClinGen gnomAD
CA2235762 rs780217380	262	E>D		No	ClinGen ExAC gnomAD
CA351660085 rs1559296584	265	S>F		No	ClinGen Ensembl
CA69826614 rs758425019	267	H>L		No	ClinGen ExAC TOPMed
CA2235759 rs750444211	267	H>Q		No	ClinGen ExAC gnomAD
CA2235760 rs758425019	267	H>R		No	ClinGen ExAC TOPMed
CA2235757 rs202018097	268	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs202018097 CA2235756	268	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2235755 rs202018097	268	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA2235758 rs77171844	268	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760333128 CA2235754	269	L>F		No	ClinGen ExAC gnomAD
rs1559296174 CA351660067	269	L>P		No	ClinGen Ensembl
CA69826599 rs894631454	270	N>K		No	ClinGen Ensembl
rs1157840406 CA351660053	271	C>F		No	ClinGen TOPMed gnomAD
rs771508531 CA2235752	272	P>L		No	ClinGen ExAC gnomAD
rs774982634 CA2235753	272	P>S		No	ClinGen ExAC gnomAD
CA351660046 rs1261850841	273	R>G		No	ClinGen TOPMed
CA351660035 rs1326339169	274	E>G		No	ClinGen TOPMed
rs1445397985 CA351660029	275	L>F		No	ClinGen gnomAD
CA2235748 rs200430412	279	A>G		No	ClinGen 1000Genomes ExAC gnomAD
CA351660005 rs1251170971	279	A>S		No	ClinGen TOPMed
rs200430412 CA69826546	279	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1056401400 CA351659984	282	E>A		No	ClinGen TOPMed
rs1056401400 CA69826523	282	E>G		No	ClinGen TOPMed
CA351659974 rs1223621279	283	N>K		No	ClinGen gnomAD
CA351659971 rs1242627517	284	L>V		No	ClinGen gnomAD
CA351659961 rs1317719842	285	F>C		No	ClinGen gnomAD
rs1251247894 CA351659965	285	F>L		No	ClinGen TOPMed
rs1454000422 CA351659945	287	D>G		No	ClinGen gnomAD
CA351659924 rs1448738309	290	S>A		No	ClinGen gnomAD
CA2235745 rs116018766	290	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA351659926 rs1448738309	290	S>T		No	ClinGen gnomAD
rs1575042002 CA351659899	292	V>G		No	ClinGen Ensembl
rs1294234572 CA351659894	293	Y>C		No	ClinGen TOPMed gnomAD
rs376621482 CA351659884	295	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA69824410 rs987981623	295	I>S		No	ClinGen Ensembl
CA2235720 rs376621482	295	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA351659871 rs1283655234	296	V>L		No	ClinGen TOPMed gnomAD
CA351659875 rs1283655234	296	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA2235718 rs777554607	297	D>Y		No	ClinGen ExAC gnomAD
CA2235717 rs755999223	298	F>L		No	ClinGen ExAC gnomAD
CA69824387 CA351659830 rs1009408235	298	F>L		No	ClinGen TOPMed gnomAD
CA351659799 rs1462439855	301	R>*		No	ClinGen TOPMed gnomAD
CA351659801 rs1462439855	301	R>G		No	ClinGen TOPMed gnomAD
CA2235716 rs138830386	301	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA69824370 rs138830386	301	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA2235715 rs138830386	301	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1169900476 CA351659790	302	D>N		No	ClinGen gnomAD
CA351659782 rs1464241949	302	D>V		No	ClinGen TOPMed gnomAD
CA69824343 rs191574891	303	I>T		No	ClinGen 1000Genomes TOPMed gnomAD
rs1032279799 CA69824351	303	I>V		No	ClinGen gnomAD
CA69824335 rs899560447	306	A>G		No	ClinGen TOPMed gnomAD
rs1039932729 CA69824334	308	Q>H		No	ClinGen TOPMed gnomAD
CA351659680 rs1207918395	309	R>K		No	ClinGen TOPMed
rs1325116454 CA351659664	310	G>D		No	ClinGen gnomAD
rs1222541660 CA351659633	312	A>E		No	ClinGen gnomAD
CA351659625 rs1343339868	313	E>Q		No	ClinGen gnomAD
rs372445621 CA351659577	315	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2235712 rs368319056	316	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA351659542 rs1372582860	318	L>V		No	ClinGen gnomAD
rs1297650904 CA351659529	319	A>T		No	ClinGen gnomAD
CA69824301 rs1041160559	321	R>C		No	ClinGen TOPMed gnomAD
CA2235711 rs149593163	321	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2235710 rs149593163	321	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1458716309 CA351659493	322	A>T		No	ClinGen TOPMed
rs1320374140 CA351659482	322	A>V		No	ClinGen TOPMed
rs546704231 CA2235709	323	R>C		No	ClinGen ExAC TOPMed gnomAD
rs546704231 CA69824271	323	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2235708 rs761174303	323	R>H		No	ClinGen ExAC TOPMed gnomAD
CA351659470 rs761174303	323	R>L		No	ClinGen ExAC TOPMed gnomAD
rs375244776 CA2235707	324	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA69824217 rs917251182	326	Q>H		No	ClinGen TOPMed gnomAD
rs761227472 CA2235690	328	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2235689 rs753118608	328	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA351658850 rs1264245474	329	Q>K		No	ClinGen TOPMed
rs148585595 CA69820356	330	T>S		No	ClinGen 1000Genomes TOPMed
rs1162786456 CA351658836	331	I>V		No	ClinGen TOPMed
rs199777153 CA69820347	334	I>S		No	ClinGen Ensembl
rs774697048 CA2235686	336	L>F		No	ClinGen ExAC TOPMed gnomAD
rs150142012 CA2235684	337	T>A		No	ClinGen ESP ExAC gnomAD
CA69820311 rs150142012	337	T>P		No	ClinGen ESP ExAC gnomAD
rs1208007464 CA351658786	339	V>F		No	ClinGen gnomAD
rs1208007464 CA351658788	339	V>I		No	ClinGen gnomAD
CA2235681 rs748023106	340	H>L		No	ClinGen ExAC TOPMed gnomAD
CA2235682 rs769752473	340	H>N		No	ClinGen ExAC gnomAD
CA69820290 rs1010253410	341	Y>C		No	ClinGen gnomAD
rs768506322 CA2235679	342	W>*		No	ClinGen ExAC TOPMed gnomAD
CA351658726 rs1346562518	347	T>I		No	ClinGen gnomAD
CA2235678 rs781438143	348	Y>*		No	ClinGen ExAC
rs370877102 CA69820186	348	Y>*		No	ClinGen ESP ExAC TOPMed
CA69820256 rs1051583677	348	Y>H		No	ClinGen TOPMed
CA351658719 rs1314281567	349	V>I		No	ClinGen TOPMed
CA2235676 rs779809123	350	Y>C		No	ClinGen ExAC gnomAD
rs757943027 CA2235675	351	Y>H		No	ClinGen ExAC gnomAD
CA69820137 rs1033039226	352	I>L		No	ClinGen Ensembl
rs756699925 CA2235672	354	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA351658668 CA351658667 rs753312050	356	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1342745552 CA351658672	356	D>Y		No	ClinGen TOPMed
rs1351946260 CA351658647	359	V>A		No	ClinGen TOPMed
rs768129263 CA2235670	359	V>L		No	ClinGen ExAC gnomAD
CA2235669 rs760015070	361	A>V		No	ClinGen ExAC TOPMed gnomAD
CA351658630 rs1196661603	362	V>L		No	ClinGen gnomAD
CA2235666 rs201641201	364	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs147612534 CA2235664	367	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2235665 rs527849754	367	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202225131 CA69820033	368	Y>*		No	ClinGen 1000Genomes ExAC gnomAD
rs1225595075 CA351658593	368	Y>H		No	ClinGen gnomAD
rs1366135873 CA351658584	369	C>Y		No	ClinGen Ensembl
CA2235660 rs187160894	371	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2235661 rs768560165	371	G>S		No	ClinGen ExAC gnomAD
CA2235659 rs775112216	372	C>R		No	ClinGen ExAC TOPMed gnomAD
CA2235658 rs181750881	372	C>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA351658565 rs181750881	372	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2235657 rs745455930	373	T>A		No	ClinGen ExAC gnomAD
rs745455930 CA351658561	373	T>P		No	ClinGen ExAC gnomAD
CA2235655 rs199894321	375	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199894321 CA2235654	375	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772069849 CA2235653	376	V>Y		No	ClinGen ExAC gnomAD

1 associated diseases with Q9Y2M2

Without disease ID

1 regional properties for Q9Y2M2

Type	Name	Position	InterPro Accession
domain	Heat shock protein DnaJ, cysteine-rich domain	177 - 244	IPR001305

Functions

		Description
EC Number
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.

2 GO annotations of molecular function

Name	Definition
heat shock protein binding	Binding to a heat shock protein, a protein synthesized or activated in response to heat shock.
unfolded protein binding	Binding to an unfolded protein.

1 GO annotations of biological process

Name	Definition
odontogenesis	The process whose specific outcome is the progression of a tooth or teeth over time, from formation to the mature structure(s). A tooth is any hard bony, calcareous, or chitinous organ found in the mouth or pharynx of an animal and used in procuring or masticating food.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8C3L1	Ssuh2	Protein SSUH2 homolog	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MDRDLNEDDS	VVDLSFEAES	PLAPPTELLE	RLPSYDWLLQ	GGRGQIFFPP	LEAPGRPQEQ
70	80	90	100	110	120
RSWPSFLEHR	VPAMTEEVAR	EALLSFVDSK	CCYSSTVAGD	LVIQELKRQT	LCRYRLETFS
130	140	150	160	170	180
ESRISEWTFQ	PFTNHSVDGP	QRGASPRLWD	IKVQGPPMFQ	EDTRKFQVPH	SSLVKECHKC
190	200	210	220	230	240
HGRGRYKCSG	CHGAGTVRCP	SCCGAKRKAK	QSRRCQLCAG	SGRRRCSTCS	GRGNKTCATC
250	260	270	280	290	300
KGEKKLLHFI	QLVIMWKNSL	FEFVSEHRLN	CPRELLAKAK	GENLFKDENS	VVYPIVDFPL
310	320	330	340	350	360
RDISLASQRG	IAEHSAALAS	RARVLQQRQT	IELIPLTEVH	YWYQGKTYVY	YIYGTDHQVY
370
AVDYPERYCC	GCTIV