AiPD: Autoinhibited Protein Database

Q15428

Gene name	SF3A2 (SAP62)
Protein name	Splicing factor 3A subunit 2
Names	SF3a66, Spliceosome-associated protein 62, SAP 62
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8175
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-142 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-142 (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

23 structures for Q15428

Entry ID	Method	Resolution	Chain	Position	Source
5Z56	EM	510 A	v	1-464	PDB
5Z57	EM	650 A	u	88-369	PDB
5Z58	EM	490 A	u	88-369	PDB
6AH0	EM	570 A	v	1-464	PDB
6AHD	EM	380 A	v	1-464	PDB
6FF4	EM	1600 A	7	1-464	PDB
6FF7	EM	450 A	7	1-464	PDB
6QX9	EM	328 A	A2	1-209	PDB
6Y53	EM	710 A	7	1-464	PDB
6Y5Q	EM	710 A	7	1-464	PDB
7ABG	EM	780 A	F	1-464	PDB
7ABH	EM	450 A	F	1-464	PDB
7ABI	EM	800 A	F	1-464	PDB
7EVO	EM	250 A	B	1-464	PDB
7ONB	EM	310 A	M	1-464	PDB
7Q4O	EM	220 A	1	1-464	PDB
7Q4P	EM	220 A	1	1-464	PDB
7QTT	EM	310 A	I	1-464	PDB
7VPX	EM	300 A	B	1-464	PDB
8CH6	EM	590 A	I	1-464	PDB
8HK1	EM	270 A	B	1-464	PDB
8QO9	EM	529 A	8/G	1-464	PDB
AF-Q15428-F1	Predicted				AlphaFoldDB

335 variants for Q15428

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
TCGA novel	4	Q>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1395956487 CA403229734	6	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA403229810 rs1285527225	12	G>R		No	ClinGen gnomAD
TCGA novel	12	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761246579 CA9062241	16	V>M		No	ClinGen ExAC TOPMed gnomAD
rs764723329 CA9062242	18	S>A		No	ClinGen ExAC gnomAD
rs966328118 CA304204669	21	E>Q		No	ClinGen TOPMed
CA403229992 rs1420615099	26	R>H		No	ClinGen gnomAD
rs766383346 CA9062245	29	R>H		No	ClinGen ExAC gnomAD
CA403230156 rs1309002131	40	I>V		No	ClinGen gnomAD
TCGA novel	41	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	47	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403230310 rs1276066473	48	K>R		No	ClinGen TOPMed
rs1599652930 CA403230325	50	H>P		No	ClinGen Ensembl
rs904541556 CA304205900	84	R>Q		No	ClinGen TOPMed
TCGA novel	86	A>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA304205906 rs923033128	87	A>V		No	ClinGen Ensembl
rs1322524882 CA403230893	88	K>R		No	ClinGen gnomAD
rs1362914046 CA403231003	96	Q>H		No	ClinGen Ensembl
rs913080884 CA304205933	98	A>T		No	ClinGen TOPMed gnomAD
rs1267599860 CA403231026	98	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	99	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1223072714 CA403231071	101	K>N		No	ClinGen TOPMed
CA403231232 rs1335061874	114	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	116	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9062369 rs199809645	125	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1356430368 CA403232223	127	M>T		No	ClinGen TOPMed
TCGA novel	129	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772050677 CA9062371	130	Q>H		No	ClinGen ExAC gnomAD
CA403232479 rs1174846531	136	I>N		No	ClinGen gnomAD
CA403232540 rs1426449630	139	P>L		No	ClinGen gnomAD
rs747116791 CA9062391	142	A>T		No	ClinGen ExAC TOPMed gnomAD
CA9062393 rs376924611	143	E>K		No	ClinGen ESP ExAC gnomAD
CA9062394 rs762198488	144	G>C		No	ClinGen ExAC gnomAD
rs765513150 CA9062395	146	M>T		No	ClinGen ExAC TOPMed gnomAD
CA403232648 rs1385189703	146	M>V		No	ClinGen gnomAD
rs1319926514 CA403232795	153	S>Y		No	ClinGen gnomAD
COSM178335 rs1219229770 CA403232810	154	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA304207316 rs202183201	156	E>G		No	ClinGen 1000Genomes
rs1457473090 CA403232867	157	Q>*		No	ClinGen gnomAD
CA403233032 rs1246951635	165	R>C		No	ClinGen gnomAD
CA403233105 rs1599654255	168	Y>S		No	ClinGen Ensembl
CA9062399 rs752167356	171	M>V		No	ClinGen ExAC gnomAD
CA9062400 rs755646271	173	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1417783672 CA403233202	173	A>V		No	ClinGen gnomAD
rs753780426 CA9062402	174	E>K		No	ClinGen ExAC TOPMed gnomAD
CA403233328 rs1300096747	179	I>S		No	ClinGen TOPMed gnomAD
CA403233325 rs1300096747	179	I>T		No	ClinGen TOPMed gnomAD
rs750283233 CA9062405	180	A>V		No	ClinGen ExAC gnomAD
CA9062444 rs768347232	184	P>L		No	ClinGen ExAC gnomAD
CA9062445 rs768347232	184	P>Q		No	ClinGen ExAC gnomAD
CA403233657 rs567913695	188	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1220705204 CA403233664	189	D>N		No	ClinGen TOPMed
CA9062449 rs762864351	191	A>G		No	ClinGen ExAC TOPMed gnomAD
CA403233695 rs1269697658	191	A>T		No	ClinGen TOPMed
CA403233702 rs762864351	191	A>V		No	ClinGen ExAC TOPMed gnomAD
rs766260251 CA9062451	192	E>D		No	ClinGen ExAC gnomAD
rs1460231327 CA403233716	193	G>S		No	ClinGen gnomAD
rs1200924943 CA403233736	194	K>R		No	ClinGen gnomAD
rs1599654861 CA403233778	197	T>S		No	ClinGen Ensembl
CA9062455 rs756234408	201	R>Q		No	ClinGen ExAC gnomAD
CA9062454 rs752673419	201	R>W		No	ClinGen ExAC TOPMed gnomAD
rs916611042 CA304207947	203	T>N		No	ClinGen Ensembl
rs1320160786 CA403234021	210	F>L		No	ClinGen gnomAD
rs1599655032 CA403234029	211	H>P		No	ClinGen Ensembl
rs1427636197 CA403234025	211	H>Y		No	ClinGen gnomAD
CA9062500 rs751904994	215	E>A		No	ClinGen ExAC gnomAD
rs1221191836 CA403234120	217	P>R		No	ClinGen gnomAD
rs200147511 CA9062501	218	P>L		No	ClinGen ExAC TOPMed gnomAD
CA403234138 rs1162580545	219	A>P		No	ClinGen TOPMed gnomAD
CA403234147 rs1311781522	220	P>A		No	ClinGen TOPMed
CA403234157 rs1363146562	221	P>T		No	ClinGen gnomAD
CA9062504 rs770571791	222	S>T		No	ClinGen ExAC gnomAD
rs1299271854 CA403234209	225	A>V		No	ClinGen gnomAD
CA9062506 rs139182118	226	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1407718357 CA403234230	227	P>L		No	ClinGen TOPMed
rs771952528 CA9062507	227	P>S		No	ClinGen ExAC gnomAD
CA403234222 rs771952528	227	P>T		No	ClinGen ExAC gnomAD
rs775324908 CA304208114	228	P>A		No	ClinGen ExAC TOPMed gnomAD
CA9062508 rs775324908	228	P>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs760420249 CA9062509	229	G>A		No	ClinGen ExAC gnomAD
rs1473908787 CA403234266	230	V>L		No	ClinGen TOPMed
CA403234296 rs1313213713	232	R>W		No	ClinGen gnomAD
TCGA novel	233	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9062510 rs575076689	233	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs575076689 CA9062511	233	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765287128 CA9062513	236	P>L		No	ClinGen ExAC TOPMed gnomAD
CA403234374 rs765287128	236	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs765287128 CA403234376	236	P>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	237	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9062516 rs766823307	239	N>S		No	ClinGen ExAC gnomAD
CA9062518 rs755308302	240	G>R		No	ClinGen ExAC TOPMed gnomAD
CA403234444 rs755308302	240	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	240	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403234458 rs1383037181	241	L>V		No	ClinGen gnomAD
CA9062519 rs777504343	242	P>L		No	ClinGen ExAC gnomAD
CA403234475 rs1229638136	242	P>S		No	ClinGen TOPMed
rs753539117 CA9062520	243	P>H		No	ClinGen ExAC TOPMed gnomAD
CA304208151 rs199857716	243	P>T		No	ClinGen Ensembl
CA304208158 rs976917093	244	R>G		No	ClinGen TOPMed gnomAD
CA403234505 rs1354107969	244	R>Q		No	ClinGen TOPMed
CA304208159 rs976917093	244	R>W		No	ClinGen TOPMed gnomAD
rs778547916 CA9062522	246	P>L		No	ClinGen ExAC gnomAD
rs1452407416 CA403234568	249	E>Q		No	ClinGen gnomAD
TCGA novel	250	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	250	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA304208170 rs928053753	253	P>L		No	ClinGen TOPMed gnomAD
CA403234634 rs1241228832	253	P>S		No	ClinGen TOPMed gnomAD
rs1257713868 CA403234683	255	P>L		No	ClinGen TOPMed gnomAD
rs1236766781 CA403234675	255	P>S		No	ClinGen gnomAD
CA304208179 rs989684314	257	G>R		No	ClinGen TOPMed
rs748346364 CA9062529	258	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1240113605 CA403234736	258	G>S		No	ClinGen TOPMed
rs770040121 CA9062530	259	L>P		No	ClinGen ExAC gnomAD
CA403234783 rs1249180178	260	P>L		No	ClinGen gnomAD
CA403234776 rs1349932606	260	P>S		No	ClinGen gnomAD
CA403234795 rs1178816009	262	P>T		No	ClinGen gnomAD
rs766847734 CA9062533	263	P>T		No	ClinGen ExAC gnomAD
CA9062534 rs774728118 CA9062535	264	M>I		No	ClinGen ExAC TOPMed gnomAD
CA304208189 rs948042094	264	M>V		No	ClinGen TOPMed gnomAD
rs1402995165 CA403234844	266	P>L		No	ClinGen TOPMed gnomAD
rs1599655229 CA403234851	267	T>P		No	ClinGen Ensembl
rs906591134 CA304208208	268	G>R		No	ClinGen TOPMed
CA403234906 rs1439117686	269	P>L		No	ClinGen TOPMed
rs753165365 CA9062537	269	P>S		No	ClinGen ExAC TOPMed gnomAD
CA9062538 rs756939384	270	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9062540 rs749901354	272	S>P		No	ClinGen ExAC TOPMed gnomAD
rs546512297 CA304208219	273	G>V		No	ClinGen 1000Genomes
rs779680327 CA9062542	274	P>H		No	ClinGen ExAC gnomAD
CA9062541 rs757861147	274	P>S		No	ClinGen ExAC gnomAD
rs1260988842 CA403234971	275	P>L		No	ClinGen gnomAD
rs747964072 CA9062546	278	P>L		No	ClinGen ExAC gnomAD
rs780934555 CA9062545	278	P>S		No	ClinGen ExAC gnomAD
rs1599655288 CA403235387	279	Q>P		No	ClinGen Ensembl
rs1480395846 CA403235414	281	P>L		No	ClinGen gnomAD
rs773432493 CA9062548	281	P>S		No	ClinGen ExAC gnomAD
CA9062549 rs749321087	282	P>L		No	ClinGen ExAC TOPMed gnomAD
rs749321087 CA403235427	282	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA403235436 rs1410902355	283	P>S		No	ClinGen gnomAD
rs770914003 CA9062550	284	A>V		No	ClinGen ExAC
rs774551659 CA9062551	285	P>L		No	ClinGen ExAC gnomAD
rs1459691559 CA403235471	286	G>R		No	ClinGen gnomAD
CA403235504 rs1599655344	288	H>P		No	ClinGen Ensembl
rs867859372 CA403235512	288	H>Q		No	ClinGen TOPMed gnomAD
rs759941830 CA9062552	288	H>Y		No	ClinGen ExAC gnomAD
CA9062553 rs768182380	289	P>S		No	ClinGen ExAC TOPMed gnomAD
CA9062556 rs764926581 COSM4131567	290	P>L	thyroid [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1404234638	290	P>R	Variant assessed as Somatic; 0.0003029 impact. [NCI-TCGA]	No	NCI-TCGA
CA403235576 rs1223403261	292	P>A		No	ClinGen gnomAD
CA403235584 rs1291835217	292	P>L		No	ClinGen gnomAD
CA403235587 rs1221451359	293	V>M		No	ClinGen TOPMed
rs1027532653 CA304208259	294	V>M		No	ClinGen TOPMed gnomAD
rs1220842331 CA403235633	296	P>L		No	ClinGen gnomAD
CA403235626 rs1490058975	296	P>T		No	ClinGen TOPMed gnomAD
TCGA novel	297	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403235654 rs1186313194	298	A>V		No	ClinGen gnomAD
CA403235660 rs1425748185	299	S>P		No	ClinGen TOPMed gnomAD
rs758125386 CA9062562	302	H>P		No	ClinGen ExAC gnomAD
CA403235725 rs1435288500	304	P>S		No	ClinGen TOPMed
CA403235745 rs1599655472	306	P>S		No	ClinGen Ensembl
rs1422852721 CA403235752	307	G>S		No	ClinGen gnomAD
rs371422834 CA9062565	308	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1441130585 CA403235774	309	H>P		No	ClinGen TOPMed
rs529347268 CA9062567	309	H>Q		No	ClinGen 1000Genomes ExAC TOPMed
rs1362388908 CA403235773	309	H>Y		No	ClinGen gnomAD
rs1479340518 CA403235786	310	P>S		No	ClinGen TOPMed
rs1288071564 CA403235794	311	P>A		No	ClinGen TOPMed gnomAD
rs1007197280 CA304208288	311	P>L		No	ClinGen TOPMed
rs781126819 CA9062569	314	G>R		No	ClinGen ExAC TOPMed gnomAD
rs547159261 CA9062570	315	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1448075683 CA403235898	317	P>L		No	ClinGen TOPMed gnomAD
CA403235887 rs375823523	317	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9062572 rs375823523	317	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1568390835 CA403235914	318	P>L		No	ClinGen Ensembl
CA403235917 rs1484455763	319	A>T		No	ClinGen gnomAD
rs749461668 CA9062574	320	P>L		No	ClinGen ExAC gnomAD
rs868130601 CA304208300	320	P>S		No	ClinGen Ensembl
rs965790988 CA304208307	321	G>R		No	ClinGen TOPMed gnomAD
CA403235947 rs1416974758 COSM395709	321	G>V	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA403236021 rs1317619442	325	P>L		No	ClinGen gnomAD
COSM4131569 rs1343170927 CA403236027	326	T>A	thyroid [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA403236025 rs1343170927	326	T>P		No	ClinGen TOPMed gnomAD
CA403236043 rs1336907401	327	S>P		No	ClinGen TOPMed gnomAD
CA403236041 rs1336907401	327	S>T		No	ClinGen TOPMed gnomAD
CA9062578 rs745992454	329	V>F		No	ClinGen ExAC TOPMed gnomAD
rs745992454 CA403236078	329	V>I		No	ClinGen ExAC TOPMed gnomAD
CA403236096 rs1234036085	330	H>P		No	ClinGen TOPMed
CA403236106 CA403236104 rs1350822523	330	H>Q		No	ClinGen TOPMed gnomAD
CA9062579 rs772659142	330	H>Y		No	ClinGen ExAC gnomAD
rs776155915 CA9062581	331	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1288115317 CA403236128	332	P>L		No	ClinGen TOPMed
rs771822076	332	P>Q	Variant assessed as Somatic; 0.0003159 impact. [NCI-TCGA]	No	NCI-TCGA
CA9062584 rs761055981	333	A>G		No	ClinGen ExAC
CA304208349 rs539335935	335	G>R		No	ClinGen 1000Genomes gnomAD
CA403236179 rs1180792284	336	V>I		No	ClinGen gnomAD
CA403236198 rs1469712561	337	H>Y		No	ClinGen TOPMed gnomAD
CA403236226 rs1262829416	338	P>L		No	ClinGen TOPMed
rs1209165238 CA403236216	338	P>S		No	ClinGen gnomAD
rs1237632603 CA403236253	340	A>T		No	ClinGen TOPMed gnomAD
rs1176871698 CA403236284	342	G>R		No	ClinGen TOPMed gnomAD
CA403236311 rs1599134652	343	V>G		No	ClinGen Ensembl
rs1599134662 CA403236322	344	H>P		No	ClinGen Ensembl
CA403236317 rs1330498033	344	H>Y		No	ClinGen TOPMed gnomAD
rs977138320 CA304208378	346	P>L		No	ClinGen TOPMed
rs1440844519 CA403236350	346	P>S		No	ClinGen gnomAD
rs1568390946 CA403236369	347	A>T		No	ClinGen Ensembl
CA304208380 rs1031163909	347	A>V		No	ClinGen TOPMed gnomAD
CA403236387 rs766086619	348	P>S		No	ClinGen ExAC TOPMed gnomAD
CA9062604 rs766086619	348	P>T		No	ClinGen ExAC TOPMed gnomAD
CA9062606 rs759057180	349	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1200708083 CA403236409	350	V>I		No	ClinGen TOPMed gnomAD
CA304208391 rs909371651	351	H>P		No	ClinGen Ensembl
rs1197692763 CA403236428	351	H>Y		No	ClinGen TOPMed
rs1437251199 CA403236474	353	P>L		No	ClinGen gnomAD
TCGA novel	355	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9062610 rs756104692	356	G>R		No	ClinGen ExAC gnomAD
rs1599134730 CA403236538	357	V>G		No	ClinGen Ensembl
CA403236528 rs1428276679	357	V>I		No	ClinGen gnomAD
rs865955198 CA304208405	359	P>L		No	ClinGen gnomAD
CA403236564 rs1396784188	360	P>S		No	ClinGen TOPMed gnomAD
rs774451139	361	A>missing	Variant assessed as Somatic; 0.0001309 impact. [NCI-TCGA]	No	NCI-TCGA
rs777410656 CA9062611	361	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1326272543 CA403236590	363	G>R		No	ClinGen gnomAD
CA403236603 rs1599134756	364	V>G		No	ClinGen Ensembl
CA403236598 rs1406069104	364	V>I		No	ClinGen gnomAD
rs569546256 CA9062612	366	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA403236622 rs1460936564	366	P>S		No	ClinGen TOPMed
rs1343984827 CA403236631	367	P>L		No	ClinGen gnomAD
rs1230077312 CA403236638	368	P>L		No	ClinGen gnomAD
rs1230077312 CA403236637	368	P>R		No	ClinGen gnomAD
rs757384556 CA9062613	370	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9062615 rs745887087	372	V>G		No	ClinGen ExAC TOPMed gnomAD
rs772284473 CA9062616	373	H>P		No	ClinGen ExAC TOPMed
rs1281142189 CA403236673	373	H>Y		No	ClinGen TOPMed gnomAD
rs1292082989 CA403236689	374	P>S		No	ClinGen TOPMed gnomAD
rs1292082989 CA403236686	374	P>T		No	ClinGen TOPMed gnomAD
rs1490539912 CA403236708	375	Q>H		No	ClinGen TOPMed gnomAD
CA403236702 rs1345282344	375	Q>P		No	ClinGen TOPMed
CA403236725 rs1442496788	377	P>L		No	ClinGen TOPMed
rs112800438 CA304208443	378	G>R		No	ClinGen Ensembl
rs1052182686 CA403236744	379	V>A		No	ClinGen gnomAD
rs1052182686 CA304208445	379	V>G		No	ClinGen gnomAD
rs1218632147 CA403236743	379	V>L		No	ClinGen gnomAD
rs1599134836 CA403236763	380	H>P		No	ClinGen Ensembl
rs1195044575 CA403236760	380	H>Y		No	ClinGen TOPMed gnomAD
rs1434418390 CA403236781	381	P>L		No	ClinGen TOPMed
rs1423523884 CA403236782	382	A>P		No	ClinGen TOPMed
CA9062618 rs747494813	383	A>D		No	ClinGen ExAC TOPMed gnomAD
rs537083842 CA304208448	383	A>S		No	ClinGen 1000Genomes TOPMed gnomAD
rs867309499 CA304208455	384	P>S		No	ClinGen Ensembl
CA9062620 rs115008403	385	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA403236821 rs1424782471	385	A>V		No	ClinGen gnomAD
rs1364270108 CA403236825	386	V>I		No	ClinGen TOPMed gnomAD
CA403236842 rs1599134874	387	H>P		No	ClinGen Ensembl
rs1484532404 CA403236861	388	P>L		No	ClinGen TOPMed
CA403236870 rs1286108898	389	Q>P		No	ClinGen TOPMed
CA9062622 rs770429438	390	A>S		No	ClinGen ExAC
CA403236895 rs1457790498	391	P>S		No	ClinGen gnomAD
CA403236907 rs1326254601	392	G>E		No	ClinGen gnomAD
CA403236920 rs1568391088	393	V>G		No	ClinGen Ensembl
CA9062624 rs759249783	393	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1317465632 CA403236924	394	H>Y		No	ClinGen TOPMed gnomAD
CA9062625 rs767003812	396	P>L		No	ClinGen ExAC gnomAD
CA403236956 rs1401480058	397	A>D		No	ClinGen TOPMed
rs1289757528 CA403236953	397	A>T		No	ClinGen gnomAD
CA403236958 rs1401480058	397	A>V		No	ClinGen TOPMed
rs752257230 CA403236965	399	G>R		No	ClinGen ExAC TOPMed gnomAD
CA9062626 rs752257230	399	G>W		No	ClinGen ExAC TOPMed gnomAD
CA403236971 rs1418677708	400	M>V		No	ClinGen TOPMed
CA9062627 rs760578137	401	H>R		No	ClinGen ExAC gnomAD
CA9062628 rs764127803	402	P>L		No	ClinGen ExAC gnomAD
rs980826397 CA304208489	404	A>S		No	ClinGen TOPMed
rs753527784 CA9062629	405	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	407	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1599134969 CA403237020	407	V>G		No	ClinGen Ensembl
rs1334871683 CA403237025	408	H>P		No	ClinGen TOPMed
CA403237031 rs1292172295	409	P>S		No	ClinGen TOPMed
CA403237038 rs1233180288	410	Q>P		No	ClinGen TOPMed
CA403237039 rs1233180288	410	Q>R		No	ClinGen TOPMed
rs1599134991 CA403237057	413	G>R		No	ClinGen Ensembl
CA403237063 rs1343926079	414	V>F		No	ClinGen TOPMed
rs1343926079 CA403237062	414	V>L		No	ClinGen TOPMed
CA9062633 rs750671386	416	P>L		No	ClinGen ExAC TOPMed gnomAD
rs780248631 CA9062635	417	S>L		No	ClinGen ExAC gnomAD
rs1187043604 CA403237088	418	A>D		No	ClinGen TOPMed
CA403237092 rs1474927199	419	P>A		No	ClinGen TOPMed
rs1599135017 CA403237108	421	V>G		No	ClinGen Ensembl
rs1383782139 CA403237129	424	Q>H		No	ClinGen TOPMed gnomAD
CA403237132 rs755391691	425	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1271966288 CA403237135	425	P>L		No	ClinGen TOPMed
CA9062638 rs755391691	425	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1312971570 CA403237141	426	P>L		No	ClinGen TOPMed gnomAD
CA403237155 rs1411669399	429	H>D		No	ClinGen gnomAD
rs1318861545 CA403237162	430	P>A		No	ClinGen gnomAD
rs1361638738 CA403237167	430	P>L		No	ClinGen TOPMed
CA403237166 rs1361638738	430	P>R		No	ClinGen TOPMed
CA403237163 rs1318861545	430	P>S		No	ClinGen gnomAD
CA403237171 rs1241039578	431	S>*		No	ClinGen gnomAD
CA403237169 rs1599135041	431	S>P		No	ClinGen Ensembl
rs748391621 CA9062640	432	N>S		No	ClinGen ExAC gnomAD
rs1599135050 CA403237198	435	V>G		No	ClinGen Ensembl
rs1443337161 CA403237203	436	H>P		No	ClinGen TOPMed
CA9062643 rs770187090	436	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1206606577 CA403237201	436	H>Y		No	ClinGen gnomAD
rs1182644526 CA403237210	437	P>L		No	ClinGen gnomAD
CA403237206 rs1356368902	437	P>T		No	ClinGen TOPMed
CA9062646 rs369459803	438	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1183078654 CA403237217	439	T>P		No	ClinGen gnomAD
CA403237226 rs1409339713	440	P>L		No	ClinGen TOPMed
CA9062652 CA403237235 rs377591309	441	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA9062650 rs867453094	441	M>L		No	ClinGen gnomAD
CA403237233 rs1197245993	441	M>T		No	ClinGen gnomAD
rs1375574213 CA403237239	442	P>H		No	ClinGen gnomAD
CA9062653 rs763880700	442	P>T		No	ClinGen ExAC gnomAD
rs765069380 CA9062657	444	M>I		No	ClinGen ExAC
CA403237249 rs1307549575	444	M>V		No	ClinGen gnomAD
CA403237269 rs1454435458	447	P>A		No	ClinGen TOPMed
CA304208560 rs866577146	448	P>T		No	ClinGen Ensembl
rs1226574162 CA403237286	450	P>S		No	ClinGen gnomAD
CA304208570 rs372706092	452	E>K		No	ClinGen ESP TOPMed gnomAD
CA304208574 rs112172811	453	G>S		No	ClinGen Ensembl
CA9062662 rs766729578	454	P>L		No	ClinGen ExAC gnomAD
rs758652966 CA9062661	454	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1481292825 CA403237339	458	P>L		No	ClinGen gnomAD
rs1249287759 CA403237343	459	P>H		No	ClinGen gnomAD
rs1249287759 CA403237345	459	P>L		No	ClinGen gnomAD
rs751627049 CA403237349	460	P>H		No	ClinGen ExAC gnomAD
rs751627049 CA9062663	460	P>R		No	ClinGen ExAC gnomAD
rs755086304 CA9062664	461	P>L		No	ClinGen ExAC gnomAD
rs748672781 CA9062666	462	P>A		No	ClinGen ExAC gnomAD
CA9062667 rs183696808	463	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1462740990 CA403237363	463	T>N		No	ClinGen TOPMed gnomAD
rs564989613 CA9062668	464	N>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9062669 rs778082536	464	N>S		No	ClinGen ExAC gnomAD
rs1050639155 CA304208600	465	N>R		No	ClinGen Ensembl

No associated diseases with Q15428

3 regional properties for Q15428

Type	Name	Position	InterPro Accession
domain	Matrin/U1-C, C2H2-type zinc finger	54 - 84	IPR000690
domain	Matrin/U1-C-like, C2H2-type zinc finger	51 - 85	IPR003604
domain	SF3A2 domain	112 - 206	IPR031781

Functions

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

9 GO annotations of cellular component

Name	Definition
catalytic step 2 spliceosome	A spliceosomal complex that contains three snRNPs, including U5, bound to a splicing intermediate in which the first catalytic cleavage of the 5' splice site has occurred. The precise subunit composition differs significantly from that of the catalytic step 1, or activated, spliceosome, and includes many proteins in addition to those found in the associated snRNPs.
nuclear speck	A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
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.
spliceosomal complex	Any of a series of ribonucleoprotein complexes that contain snRNA(s) and small nuclear ribonucleoproteins (snRNPs), and are formed sequentially during the spliceosomal splicing of one or more substrate RNAs, and which also contain the RNA substrate(s) from the initial target RNAs of splicing, the splicing intermediate RNA(s), to the final RNA products. During cis-splicing, the initial target RNA is a single, contiguous RNA transcript, whether mRNA, snoRNA, etc., and the released products are a spliced RNA and an excised intron, generally as a lariat structure. During trans-splicing, there are two initial substrate RNAs, the spliced leader RNA and a pre-mRNA.
U2 snRNP	A ribonucleoprotein complex that contains small nuclear RNA U2, a heptameric ring of Sm proteins, as well as several proteins that are unique to the U2 snRNP, most of which remain associated with the U2 snRNA both while the U2 snRNP is free or assembled into a series of spliceosomal complexes.
U2-type precatalytic spliceosome	A spliceosomal complex that is formed by the recruitment of the preassembled U4/U6.U5 tri-snRNP to the prespliceosome. Although all 5 snRNPs are present, the precatalytic spliceosome is catalytically inactive. The precatalytic spliceosome includes many proteins in addition to those found in the U1, U2 and U4/U6.U5 snRNPs.
U2-type prespliceosome	A spliceosomal complex that is formed by association of the 5' splice site with the U1 snRNP, while the branch point sequence is recognized by the U2 snRNP. The prespliceosome includes many proteins in addition to those found in the U1 and U2 snRNPs. Commitment to a given pair of 5' and 3' splice sites occurs at the time of prespliceosome formation.
U2-type spliceosomal complex	Any spliceosomal complex that forms during the splicing of a messenger RNA primary transcript to excise an intron that has canonical consensus sequences near the 5' and 3' ends.

2 GO annotations of molecular function

Name	Definition
RNA binding	Binding to an RNA molecule or a portion thereof.
zinc ion binding	Binding to a zinc ion (Zn).

6 GO annotations of biological process

Name	Definition
mRNA 3'-splice site recognition	Recognition of the intron 3'-splice site by components of the assembling U2- or U12-type spliceosome.
mRNA processing	Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide.
mRNA splicing, via spliceosome	The joining together of exons from one or more primary transcripts of messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced.
positive regulation of neuron projection development	Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).
spliceosomal complex assembly	The aggregation, arrangement and bonding together of a spliceosomal complex, a ribonucleoprotein apparatus that catalyzes nuclear mRNA splicing via transesterification reactions.
U2-type prespliceosome assembly	The aggregation, arrangement and bonding together of a set of components to form an U2-type prespliceosome.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A5PJN8	SF3A2	Splicing factor 3A subunit 2	Bos taurus (Bovine)	PR
Q62203	Sf3a2	Splicing factor 3A subunit 2	Mus musculus (Mouse)	PR
Q6AXT8	Sf3a2	Splicing factor 3A subunit 2	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MDFQHRPGGK	TGSGGVASSS	ESNRDRRERL	RQLALETIDI	NKDPYFMKNH	LGSYECKLCL
70	80	90	100	110	120
TLHNNEGSYL	AHTQGKKHQT	NLARRAAKEA	KEAPAQPAPE	KVKVEVKKFV	KIGRPGYKVT
130	140	150	160	170	180
KQRDSEMGQQ	SLLFQIDYPE	IAEGIMPRHR	FMSAYEQRIE	PPDRRWQYLL	MAAEPYETIA
190	200	210	220	230	240
FKVPSREIDK	AEGKFWTHWN	RETKQFFLQF	HFKMEKPPAP	PSLPAGPPGV	KRPPPPLMNG
250	260	270	280	290	300
LPPRPPLPES	LPPPPPGGLP	LPPMPPTGPA	PSGPPGPPQL	PPPAPGVHPP	APVVHPPASG
310	320	330	340	350	360
VHPPAPGVHP	PAPGVHPPAP	GVHPPTSGVH	PPAPGVHPPA	PGVHPPAPGV	HPPAPGVHPP
370	380	390	400	410	420
APGVHPPPSA	GVHPQAPGVH	PAAPAVHPQA	PGVHPPAPGM	HPQAPGVHPQ	PPGVHPSAPG
430	440	450	460
VHPQPPGVHP	SNPGVHPPTP	MPPMLRPPLP	SEGPGNIPPP	PPTN