AiPD: Autoinhibited Protein Database

Q9UL42

Gene name	PNMA2 (KIAA0883, MA2)
Protein name	Paraneoplastic antigen Ma2
Names	40 kDa neuronal protein, Onconeuronal antigen Ma2, Paraneoplastic neuronal antigen MM2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10687
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

296-364 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

296-364 (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 Q9UL42

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9UL42-F1	Predicted				AlphaFoldDB

335 variants for Q9UL42

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs147059463 CA4686261	2	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1050793503 CA174188250	3	L>R		No	ClinGen gnomAD
CA174188255 rs890781634	3	L>V		No	ClinGen gnomAD
rs929678566 CA370790564	4	A>P		No	ClinGen TOPMed
CA174188248 rs929678566	4	A>T		No	ClinGen TOPMed
TCGA novel	4	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4686260 rs764346444	7	E>Q		No	ClinGen ExAC gnomAD
CA370790502 rs979075527	8	D>N		No	ClinGen TOPMed gnomAD
CA174188220 rs979075527	8	D>Y		No	ClinGen TOPMed gnomAD
TCGA novel	11	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4686258 rs775304678	12	I>M		No	ClinGen ExAC gnomAD
CA4686257 rs771774389	14	S>I		No	ClinGen ExAC gnomAD
rs1305840875 CA370789514	16	D>H		No	ClinGen gnomAD
rs1371952674 CA370789488	19	K>T		No	ClinGen TOPMed
CA370789474 rs1387205191	21	L>P		No	ClinGen gnomAD
rs373861633 CA174188216	22	M>I		No	ClinGen ESP TOPMed gnomAD
CA370789472 rs1165235825	22	M>L		No	ClinGen TOPMed gnomAD
rs1475957103 CA370789468	22	M>T		No	ClinGen gnomAD
COSM1163622 rs1563368432 CA370789452	24	T>M	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1159222218 CA370789437	27	P>A		No	ClinGen TOPMed gnomAD
CA4686254 rs774422018 COSM1098535	27	P>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs774422018 CA370789434	27	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1159222218 CA370789436	27	P>S		No	ClinGen TOPMed gnomAD
CA370789428 rs1181354550	28	A>V		No	ClinGen gnomAD
CA4686251 rs777181212	30	F>L		No	ClinGen ExAC gnomAD
rs1192086018 CA370789411	31	E>Q		No	ClinGen TOPMed gnomAD
CA174188138 rs980759418	32	E>D		No	ClinGen gnomAD
rs1285507579 CA370789397	33	A>S		No	ClinGen gnomAD
TCGA novel	34	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1420577758 CA370789383	35	I>L		No	ClinGen TOPMed
rs1206441036 CA370789375	36	Q>E		No	ClinGen gnomAD
rs769441970 CA4686250	36	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1585478616 CA370789358	38	V>G		No	ClinGen Ensembl
rs549985071 CA4686248	39	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs200050472 CA370789342	41	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs200050472 CA4686247	41	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs750845698 CA4686246	42	T>A		No	ClinGen ExAC gnomAD
CA174188108 rs780085649	42	T>I		No	ClinGen Ensembl
rs750845698 CA370789334	42	T>S		No	ClinGen ExAC gnomAD
rs113603543 CA174188099	46	L>Q		No	ClinGen Ensembl
CA4686244 rs753872409	48	R>S		No	ClinGen ExAC TOPMed gnomAD
CA370789299 rs1365858134	48	R>W		No	ClinGen gnomAD
CA4686242 rs764101621	49	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	51	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1033068686 CA174188082	52	L>F		No	ClinGen gnomAD
rs752865308 CA4686240	55	I>T		No	ClinGen ExAC gnomAD
rs897191178 CA174188061	56	F>L		No	ClinGen TOPMed gnomAD
CA174188063 rs149364969	56	F>L		No	ClinGen ESP
rs150236493 CA4686238	57	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4686239 rs146064338	57	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1243270711 CA370789191	60	E>K		No	ClinGen gnomAD
CA4686237 rs141063843	61	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA370789141 rs1444830851 COSM287839	62	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1260462745 CA370789133	63	N>H		No	ClinGen gnomAD
rs144187029 CA4686236	63	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1231440435 CA370789114	64	A>T		No	ClinGen Ensembl
CA174188017 rs1054901910	65	V>A		No	ClinGen TOPMed
rs772723183 CA4686234	69	L>R		No	ClinGen ExAC TOPMed gnomAD
CA370788979 rs1330883261	72	D>G		No	ClinGen Ensembl
CA174187993 rs776134898	73	T>I		No	ClinGen ExAC TOPMed gnomAD
CA4686231 rs776134898	73	T>N		No	ClinGen ExAC TOPMed gnomAD
CA370788938 rs1325732275	75	V>I		No	ClinGen gnomAD
CA4686230 rs749051333	76	S>P		No	ClinGen ExAC TOPMed gnomAD
CA370788890 rs779280676	78	I>F		No	ClinGen ExAC gnomAD
CA4686228 rs779280676	78	I>L		No	ClinGen ExAC gnomAD
CA4686227 rs542141868	79	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs557595948 CA4686225	80	S>R		No	ClinGen ExAC TOPMed gnomAD
CA4686224 rs756141103	82	V>F		No	ClinGen ExAC gnomAD
TCGA novel CA370788790 rs1169960738	83	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
TCGA novel	84	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1563368299 CA370788738	85	K>N		No	ClinGen Ensembl
CA4686223 rs752876122	85	K>R		No	ClinGen ExAC gnomAD
rs767608465 CA4686222	86	G>A		No	ClinGen ExAC TOPMed gnomAD
CA174187944 CA370788728 rs200236917	86	G>R		No	ClinGen TOPMed gnomAD
rs767608465 CA370788719	86	G>V		No	ClinGen ExAC TOPMed gnomAD
CA4686221 rs755286261	87	G>D		No	ClinGen ExAC gnomAD
CA370788699 rs1464363431	88	V>I		No	ClinGen TOPMed gnomAD
rs766293221 CA4686219	91	V>L		No	ClinGen ExAC TOPMed gnomAD
rs766293221 CA370788638	91	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4686217 rs556347535	96	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs762918081 CA4686218	96	P>S		No	ClinGen ExAC gnomAD
rs993863748 CA174187907	98	Q>H		No	ClinGen gnomAD
rs765277641 CA4686216	101	E>G		No	ClinGen ExAC gnomAD
TCGA novel	101	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	103	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370788391 rs1585478482	105	R>K		No	ClinGen Ensembl
rs1234054695 CA370788377	106	L>S		No	ClinGen gnomAD
rs1563368254 CA370788345	108	L>Q		No	ClinGen Ensembl
CA370788305 rs1402376819	110	L>Q		No	ClinGen Ensembl
CA370788255 rs1563368241	113	E>*		No	ClinGen Ensembl
CA370788249 rs1585478453	113	E>G		No	ClinGen Ensembl
rs1477627116 CA370788239	114	G>A		No	ClinGen gnomAD
CA174187849 rs545711393	114	G>R		No	ClinGen TOPMed gnomAD
CA370788241 rs545711393	114	G>W		No	ClinGen TOPMed gnomAD
CA370788227 rs1253520610	115	Q>P		No	ClinGen gnomAD
CA4686212 rs768257360	116	T>M		No	ClinGen ExAC gnomAD
rs746684506 CA4686209	117	V>F		No	ClinGen ExAC
CA4686208 rs746684506	117	V>I		No	ClinGen ExAC
CA4686211 rs746684506	117	V>L		No	ClinGen ExAC
rs1408516268 CA370788182	118	S>L		No	ClinGen TOPMed gnomAD
rs1408516268 CA370788184	118	S>W		No	ClinGen TOPMed gnomAD
rs759895516 CA174187808	119	G>R		No	ClinGen Ensembl
CA370788140 rs1585478421	120	M>I		No	ClinGen Ensembl
CA4686207 rs774639199	120	M>K		No	ClinGen ExAC gnomAD
CA370788107 rs1166280283	122	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs199559488 CA4686203	126	Q>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4686202 rs533538110	126	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs781448349 CA4686201	128	G>S		No	ClinGen ExAC TOPMed gnomAD
CA370787966 rs1585478393	129	V>G		No	ClinGen Ensembl
rs1044578124 CA174187732	129	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs766776385 CA4686198	131	P>S		No	ClinGen ExAC gnomAD
rs758257007 CA4686196	132	A>T		No	ClinGen ExAC gnomAD
CA4686195 rs750281588	133	T>I		No	ClinGen ExAC gnomAD
CA174187706 rs950309020	133	T>S		No	ClinGen Ensembl
CA370787766 rs1374344820	137	I>M		No	ClinGen gnomAD
rs1205407842 CA370787783	137	I>V		No	ClinGen gnomAD
CA4686193 rs149051178	138	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1376585799 CA370787753	139	P>S		No	ClinGen gnomAD
rs753237705 CA4686192	140	E>A		No	ClinGen ExAC TOPMed gnomAD
CA370787668 rs763605401	143	A>D		No	ClinGen ExAC TOPMed gnomAD
rs763605401 CA4686191	143	A>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	144	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370787584 rs1409779378	147	G>V		No	ClinGen gnomAD
CA4686190 rs376307662	148	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA4686189 rs775117335	149	A>V		No	ClinGen ExAC TOPMed gnomAD
CA370787498 rs1371432247	151	A>T		No	ClinGen TOPMed
CA174187631 rs995626755	152	H>R		No	ClinGen TOPMed
rs934647574 CA174187622	153	A>T		No	ClinGen TOPMed
rs763201862 CA4686187	155	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs770155605 CA4686185	156	P>L		No	ClinGen ExAC gnomAD
CA4686186 rs144954264	156	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs144954264 CA370787395	156	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1353411526 CA370787353	159	P>H		No	ClinGen TOPMed
CA4686183 rs377188077	160	M>T		No	ClinGen ESP ExAC gnomAD
CA370787318 rs149926900	161	R>K		No	ClinGen ESP TOPMed gnomAD
rs373403034 CA174187547	161	R>S		No	ClinGen Ensembl
rs149926900 CA174187567	161	R>T		No	ClinGen ESP TOPMed gnomAD
rs555767944 CA4686182	162	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370787276 rs1563368138	163	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA4686181 rs747145459	163	R>W		No	ClinGen ExAC gnomAD
TCGA novel	166	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1443476984 CA370787225	166	R>Q		No	ClinGen gnomAD
rs780401667 CA4686179	171	S>G		No	ClinGen ExAC gnomAD
CA174187507 rs896415862	173	V>L		No	ClinGen TOPMed
CA4686177 rs139161754	175	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA4686176 rs139161754	175	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA370787062 rs1563368123	175	A>V		No	ClinGen Ensembl
rs964797147 CA174187477	176	P>A		No	ClinGen gnomAD
CA370787046 rs1346436127	176	P>L		No	ClinGen TOPMed gnomAD
CA370787058 rs964797147	176	P>T		No	ClinGen gnomAD
CA174187466 rs985331760	177	E>G		No	ClinGen Ensembl
rs911008768 CA174187475	177	E>Q		No	ClinGen Ensembl
CA4686173 rs753778212	178	E>K		No	ClinGen ExAC gnomAD
rs752249223 CA4686170	179	E>G		No	ClinGen ExAC gnomAD
rs760162914 CA4686171	179	E>K		No	ClinGen ExAC gnomAD
rs139489073 CA4686169	180	S>C		No	ClinGen 1000Genomes ExAC TOPMed
CA370786960 rs1297614270	181	F>S		No	ClinGen TOPMed
CA4686168 rs773396250	182	E>D		No	ClinGen ExAC gnomAD
CA370786918 rs1187003516	183	V>D		No	ClinGen gnomAD
CA4686166 rs770201366	184	W>*		No	ClinGen ExAC gnomAD
CA370786907 rs770201366	184	W>C		No	ClinGen ExAC gnomAD
CA4686165 VAR_053597 rs2233701	186	E>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2233701 CA370786894	186	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA370786857 rs1213678518	188	A>T		No	ClinGen gnomAD
TCGA novel	188	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761684421 CA174187395	189	T>K		No	ClinGen Ensembl
rs769336497 CA4686162	190	E>A		No	ClinGen ExAC gnomAD
rs550365661 CA370786829	190	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs550365661 CA4686163	190	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4686161 rs747055689	191	I>M		No	ClinGen ExAC gnomAD
rs199598466 CA4686159	193	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs772134485 CA4686157	196	P>T		No	ClinGen ExAC gnomAD
CA4686155 rs778505815	198	T>A		No	ClinGen ExAC gnomAD
rs757069924 CA4686154	198	T>I		No	ClinGen ExAC gnomAD
CA370786545 rs753688010	199	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1376833221 CA370786550	199	E>K		No	ClinGen gnomAD
CA370786557 rs1376833221	199	E>Q		No	ClinGen gnomAD
CA4686153 rs753688010	199	E>V		No	ClinGen ExAC TOPMed gnomAD
CA174187264 rs961030504	200	A>E		No	ClinGen Ensembl
rs1417218229 CA370786501	202	K>R		No	ClinGen gnomAD
rs1191610437 CA370786490	203	K>E		No	ClinGen gnomAD
rs1585478182 CA370786420	205	W>G		No	ClinGen Ensembl
rs375724058 CA4686150	207	A>T		No	ClinGen ESP ExAC gnomAD
CA4686148 rs767070378	208	E>K		No	ClinGen ExAC gnomAD
TCGA novel	211	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371830737 CA4686145	211	R>W		No	ClinGen ESP ExAC gnomAD
TCGA novel	213	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA174187192 rs867640196	214	A>V		No	ClinGen Ensembl
rs777177570 CA4686143	218	M>V		No	ClinGen ExAC TOPMed gnomAD
CA370786073 rs1487925156	220	I>T		No	ClinGen TOPMed
rs1400999982 CA370786084	220	I>V		No	ClinGen gnomAD
CA370786047 rs1298536804	221	V>G		No	ClinGen gnomAD
CA4686142 rs764657119	222	Q>*		No	ClinGen ExAC gnomAD
CA174187168 rs912808597	222	Q>H		No	ClinGen TOPMed gnomAD
CA4686141 rs761284942	223	A>V		No	ClinGen ExAC gnomAD
CA4686140 rs775651253	225	N>S		No	ClinGen ExAC gnomAD
rs1413373928 COSM1699870 CA370785922	226	P>L	skin [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA370785907 rs1435562197	227	S>P		No	ClinGen TOPMed
CA4686138 rs150597488	228	I>L		No	ClinGen 1000Genomes ExAC gnomAD
rs774615440 CA4686137	229	S>R		No	ClinGen ExAC gnomAD
rs749049363 CA4686136	231	E>D		No	ClinGen ExAC gnomAD
CA174187140 rs985747065	231	E>Q		No	ClinGen TOPMed
rs932786017 CA174187114	232	E>Q		No	ClinGen TOPMed
TCGA novel	233	C>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370785768 rs1198544716	234	L>W		No	ClinGen gnomAD
rs755990530 CA4686133	235	E>V		No	ClinGen ExAC gnomAD
rs1274538775 CA370785725	237	F>C		No	ClinGen gnomAD
rs1175378776 CA370785718	238	K>E		No	ClinGen gnomAD
CA4686132 rs748084769	238	K>R		No	ClinGen ExAC gnomAD
CA370785712 rs748084769	238	K>T		No	ClinGen ExAC gnomAD
rs1554529650 CA4686130	240	V>G		No	ClinGen Ensembl
CA174187065 rs905615169	240	V>M		No	ClinGen gnomAD
TCGA novel	241	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1162468295 CA370785651	242	G>E		No	ClinGen TOPMed
CA4686128 rs754501261	243	S>I		No	ClinGen ExAC gnomAD
rs1392986081 CA370785634	244	L>I		No	ClinGen gnomAD
CA370785612 rs1416872252	246	S>G		No	ClinGen TOPMed
rs751080139 CA4686127	247	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4686126 rs547951989	247	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA4686125 rs547951989	247	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370785599 rs1396516936	248	R>K		No	ClinGen gnomAD
rs920134424 CA174187003	248	R>S		No	ClinGen TOPMed gnomAD
rs763842654 CA174187002	249	T>R		No	ClinGen Ensembl
rs1585478051 CA370785546	253	R>W		No	ClinGen Ensembl
rs974533123 CA174186985	254	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs974533123 CA370785530	254	Y>F		No	ClinGen TOPMed gnomAD
rs1182764219 CA370785507	256	K>N		No	ClinGen gnomAD
rs776060695 CA4686121	258	Y>C		No	ClinGen ExAC gnomAD
CA4686122 rs761194995	258	Y>H		No	ClinGen ExAC gnomAD
rs867456533 CA174186979	260	E>K		No	ClinGen TOPMed gnomAD
rs759634874 CA4686120	262	G>A		No	ClinGen ExAC gnomAD
rs759634874 CA4686119	262	G>E		No	ClinGen ExAC gnomAD
CA174186974 rs1044933739	262	G>R		No	ClinGen TOPMed
CA4686118 rs774330593	263	E>K		No	ClinGen ExAC gnomAD
rs771141603 CA4686117	264	K>N		No	ClinGen ExAC gnomAD
CA370785387 rs1260983037	265	V>D		No	ClinGen gnomAD
rs1014437046 CA174186924	266	S>*		No	ClinGen TOPMed gnomAD
COSM1313955 rs1014437046 CA174186916	266	S>L	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
TCGA novel	267	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370785332 rs1314725208	270	L>F		No	ClinGen gnomAD
CA370785328 rs749532053	271	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1563367914 CA370785325	271	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs749532053 COSM454357 CA4686116	271	R>W	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4686114 rs772927076	273	E>K		No	ClinGen ExAC gnomAD
CA4686113 rs769575242	274	T>N		No	ClinGen ExAC gnomAD
rs747998830 CA4686112	275	L>P		No	ClinGen ExAC gnomAD
CA370785290 rs895999950	275	L>V		No	ClinGen TOPMed
rs754912573 CA4686110	276	L>V		No	ClinGen ExAC gnomAD
CA370785281 rs1397501725	277	R>Q		No	ClinGen gnomAD
rs376898906 CA4686108	277	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1197331256 CA370785261	280	V>A		No	ClinGen gnomAD
rs78548714 CA4686107	283	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750103015 CA4686106	283	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	284	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM298140 rs1487114560 CA370785237	284	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1283104200 CA370785234	284	A>V		No	ClinGen gnomAD
CA4686103 rs541732199	287	R>W		No	ClinGen 1000Genomes ExAC
rs1311585784 CA370785215	288	R>S		No	ClinGen TOPMed
rs1232472349 CA370785193	291	D>A		No	ClinGen gnomAD
rs1273058533 CA370785196	291	D>H		No	ClinGen gnomAD
CA370785186 rs1326910093	292	Q>*		No	ClinGen gnomAD
CA370785187 rs1326910093	292	Q>E		No	ClinGen gnomAD
rs368364116 CA4686100	294	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA370785172 rs1383937975	294	R>H		No	ClinGen gnomAD
rs1383937975 CA370785170	294	R>L		No	ClinGen gnomAD
TCGA novel	296	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1009693570 CA174186767	297	Q>H		No	ClinGen TOPMed
CA4686099 rs766455350	297	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs1404531627 CA370785145	298	V>D		No	ClinGen Ensembl
rs1305351647 CA370785140	299	M>I		No	ClinGen TOPMed
rs773413867 CA4686098 CA174186762	299	M>L		No	ClinGen ExAC gnomAD
rs773413867 CA4686097	299	M>V		No	ClinGen ExAC gnomAD
rs1435767981 CA370785122	302	A>G		No	ClinGen TOPMed gnomAD
CA370785120 rs1585477916	303	T>P		No	ClinGen Ensembl
rs770054830 CA4686096	304	L>V		No	ClinGen ExAC gnomAD
CA370785102 rs1171132602 CA370785103	305	N>K		No	ClinGen gnomAD
rs972637349 CA174186728 CA174186753	307	M>I		No	ClinGen TOPMed gnomAD
CA370785083 rs1374080796	308	L>P		No	ClinGen gnomAD
CA370785076 rs1262073209	309	W>*		No	ClinGen gnomAD
CA4686095 CA370785081 rs761565468	309	W>R		No	ClinGen ExAC TOPMed gnomAD
CA370785066 rs1211131178	310	C>W		No	ClinGen gnomAD
CA370785061 rs1486158234	311	R>L		No	ClinGen TOPMed
CA370785064 rs1486421508	311	R>W		No	ClinGen TOPMed gnomAD
rs768591571 CA4686093	313	R>T		No	ClinGen ExAC gnomAD
CA370785044 rs1585477869	314	E>G		No	ClinGen Ensembl
rs746934546 CA4686092	315	L>M		No	ClinGen ExAC
rs779548831 CA4686091	315	L>P		No	ClinGen ExAC gnomAD
rs1225806309 CA370785025	317	D>G		No	ClinGen gnomAD
rs771702170 CA4686090	319	G>D		No	ClinGen ExAC TOPMed gnomAD
CA370785003 rs1338475741	320	P>L		No	ClinGen gnomAD
CA370785000 rs1415647188	321	P>T		No	ClinGen gnomAD
rs1377435344 CA370784995	322	P>A		No	ClinGen gnomAD
CA4686089 rs531651495	323	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs267601876 CA174186694	324	F>V		No	ClinGen Ensembl
rs1397920618 CA370784971	325	L>H		No	ClinGen gnomAD
CA370784976 rs1414252348	325	L>V		No	ClinGen gnomAD
rs148320981 CA4686087	326	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	326	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4686086 rs545985340	328	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4686085 rs781429610	329	K>R		No	ClinGen ExAC TOPMed gnomAD
rs755452256 CA4686084	330	V>L		No	ClinGen ExAC gnomAD
CA4686083 rs144301981	331	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA370784931 rs763002357	332	R>P		No	ClinGen ExAC TOPMed gnomAD
rs763002357 CA4686081	332	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1221356 rs766932294 CA4686082	332	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs750545734 CA4686080	333	E>Q		No	ClinGen ExAC gnomAD
CA174186639 rs970182001	335	E>K		No	ClinGen TOPMed
CA370784907 rs1317399043	336	E>K		No	ClinGen TOPMed
rs765403549 CA4686079	336	E>V		No	ClinGen ExAC gnomAD
CA4686077 rs553438145	337	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA370784896 rs1317170906	337	E>G		No	ClinGen gnomAD
CA370784880 rs1381695894	339	A>V		No	ClinGen TOPMed gnomAD
rs1464267590 CA370784858	342	E>D		No	ClinGen TOPMed
rs760582852 CA370784850	343	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1282643083 CA370784853	343	N>S		No	ClinGen gnomAD
rs149614464 CA4686074	344	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs370446589 CA4686073	345	S>N		No	ClinGen ESP ExAC gnomAD
TCGA novel	345	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1014442982 CA174186601	346	I>T		No	ClinGen Ensembl
rs778592988 CA4686071	347	E>K		No	ClinGen ExAC gnomAD
CA4686070 rs539971976	349	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4686069 rs748902880	351	E>K		No	ClinGen ExAC TOPMed
rs1162245236 CA370784794	352	R>G		No	ClinGen gnomAD
CA174186573 rs999026700	352	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1470416049 CA370784790	353	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4686067 rs755287501	354	G>D		No	ClinGen ExAC gnomAD
CA4686068 rs777551171	354	G>S		No	ClinGen ExAC TOPMed gnomAD
CA4686065 rs574071424	357	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1456297 rs1214473951 CA370784745	357	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	359	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370784705 rs1288052563	360	H>R		No	ClinGen gnomAD
rs750454251 CA4686063	361	E>G		No	ClinGen ExAC gnomAD
rs980634333 CA174186510	363	D>G		No	ClinGen TOPMed gnomAD
rs1171030755 CA370784672	363	D>N		No	ClinGen TOPMed
rs967997472 CA174186508	365	D>R		No	ClinGen TOPMed

No associated diseases with Q9UL42

2 regional properties for Q9UL42

Type	Name	Position	InterPro Accession
domain	EF-hand domain	110 - 145	IPR002048
binding_site	EF-Hand 1, calcium-binding site	123 - 135	IPR018247

Functions

		Description
EC Number
Subcellular Localization	Nucleus, nucleolus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 GO annotations of cellular component

Name	Definition
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name	Definition
positive regulation of apoptotic process	Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q2KIT6	PNMA2	Paraneoplastic antigen Ma2 homolog	Bos taurus (Bovine)	PR
Q9H0W5	CCDC8	Coiled-coil domain-containing protein 8	Homo sapiens (Human)	PR
Q8BHK0	Pnma2	Paraneoplastic antigen Ma2 homolog	Mus musculus (Mouse)	PR
Q8C1C8	Pnma1	Paraneoplastic antigen Ma1 homolog	Mus musculus (Mouse)	PR
Q8VHZ4	Pnma1	Paraneoplastic antigen Ma1 homolog	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MALALLEDWC	RIMSVDEQKS	LMVTGIPADF	EEAEIQEVLQ	ETLKSLGRYR	LLGKIFRKQE
70	80	90	100	110	120
NANAVLLELL	EDTDVSAIPS	EVQGKGGVWK	VIFKTPNQDT	EFLERLNLFL	EKEGQTVSGM
130	140	150	160	170	180
FRALGQEGVS	PATVPCISPE	LLAHLLGQAM	AHAPQPLLPM	RYRKLRVFSG	SAVPAPEEES
190	200	210	220	230	240
FEVWLEQATE	IVKEWPVTEA	EKKRWLAESL	RGPALDLMHI	VQADNPSISV	EECLEAFKQV
250	260	270	280	290	300
FGSLESRRTA	QVRYLKTYQE	EGEKVSAYVL	RLETLLRRAV	EKRAIPRRIA	DQVRLEQVMA
310	320	330	340	350	360
GATLNQMLWC	RLRELKDQGP	PPSFLELMKV	IREEEEEEAS	FENESIEEPE	ERDGYGRWNH

EGDD