AiPD: Autoinhibited Protein Database

A6NFA1

Gene name	TRABD2B (HKAT, TIKI2)
Protein name	Metalloprotease TIKI2
Names	Heart, kidney and adipose-enriched transmembrane protein homolog, TRAB domain-containing protein 2B
Species	Homo sapiens (Human)
KEGG Pathway	hsa:388630
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-67 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-67 (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 A6NFA1

Entry ID	Method	Resolution	Chain	Position	Source
AF-A6NFA1-F1	Predicted				AlphaFoldDB

366 variants for A6NFA1

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA340284946 rs1307716935	2	H>N		No	ClinGen gnomAD
CA340284940 rs1239124942	3	A>T		No	ClinGen TOPMed
CA340284918 rs1314424341	6	A>V		No	ClinGen TOPMed gnomAD
CA22252389 rs572990410	7	G>R		No	ClinGen 1000Genomes
rs1557704084 CA340284898	10	L>P		No	ClinGen Ensembl
CA22252387 rs984453913	10	L>V		No	ClinGen Ensembl
rs1374297508 CA340284890	12	A>T		No	ClinGen gnomAD
rs1224914155 CA340284871	15	A>T		No	ClinGen TOPMed
rs926498175 CA22252385	15	A>V		No	ClinGen TOPMed
CA340284847 rs1310490377	19	A>S		No	ClinGen TOPMed gnomAD
rs1310490377 CA340284849	19	A>T		No	ClinGen TOPMed gnomAD
CA340284843 rs1182588642	20	R>S		No	ClinGen TOPMed
rs1468500056 CA340284821	23	P>S		No	ClinGen TOPMed
CA340284816 rs1365892342	24	P>A		No	ClinGen TOPMed
rs1300973278 CA340284796	27	G>R		No	ClinGen TOPMed
rs976398689 CA22252383	28	Q>P		No	ClinGen TOPMed
rs976398689 CA340284788	28	Q>R		No	ClinGen TOPMed
rs1237449706 CA340284776	30	R>G		No	ClinGen TOPMed
rs1237449706 CA340284775	30	R>W		No	ClinGen TOPMed
CA340284766 rs1360703674	31	P>L		No	ClinGen TOPMed
rs536234362 CA22252381	34	S>L		No	ClinGen 1000Genomes
CA340284730 rs1200081479	35	Q>H		No	ClinGen gnomAD
TCGA novel	36	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs926281488 CA22252144	44	T>M		No	ClinGen TOPMed gnomAD
rs1480643567 CA340284656	46	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1252731086 CA340284651	47	R>C		No	ClinGen gnomAD
TCGA novel	47	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1274530699 CA340284618	52	Y>S		No	ClinGen TOPMed gnomAD
CA340284573 rs1284310208	59	V>I		No	ClinGen gnomAD
rs1456304602 CA340284557	61	Y>C		No	ClinGen TOPMed
rs1306447881 CA340284551	62	T>A		No	ClinGen gnomAD
CA340284552 rs1306447881	62	T>P		No	ClinGen gnomAD
rs1392059970 CA340284544	63	R>C		No	ClinGen TOPMed gnomAD
CA340284545 rs1392059970	63	R>G		No	ClinGen TOPMed gnomAD
CA340284541 rs1443724139	63	R>H		No	ClinGen TOPMed
CA340284537 rs1570435055	64	V>A		No	ClinGen Ensembl
CA22252142 rs994473066	64	V>I		No	ClinGen gnomAD
rs988026150 CA22252141	69	P>L		No	ClinGen TOPMed gnomAD
TCGA novel	69	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1176885569 CA340284496	70	D>N		No	ClinGen TOPMed gnomAD
CA22252140 rs905512003	73	K>E		No	ClinGen Ensembl
CA22252139 rs1044629473	74	A>V		No	ClinGen TOPMed
CA340284442 rs1464421747	78	A>T		No	ClinGen TOPMed
rs1180944037 CA340284439	78	A>V		No	ClinGen gnomAD
CA22252138 rs780934984	79	S>C		No	ClinGen Ensembl
CA340284428 rs1570434968	80	T>P		No	ClinGen Ensembl
rs1419155375 CA340284421	81	R>C		No	ClinGen TOPMed gnomAD
CA22252137 rs758885728	81	R>H		No	ClinGen TOPMed gnomAD
rs1181429739 CA340284408	83	Y>C		No	ClinGen gnomAD
rs1460594383 CA340284403	84	F>L		No	ClinGen gnomAD
CA340284395 rs1332436111	85	E>Q		No	ClinGen TOPMed
CA340284380 rs1570434898	87	D>A		No	ClinGen Ensembl
TCGA novel	87	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA340284368 rs1205944904	89	T>A		No	ClinGen gnomAD
rs1348925284 CA340284364	89	T>I		No	ClinGen gnomAD
CA340284358 rs1570434862	90	D>A		No	ClinGen Ensembl
rs757053010 CA22252135 CA340284357	90	D>E		No	ClinGen TOPMed gnomAD
rs1570434842 CA340284342	93	T>P		No	ClinGen Ensembl
rs1318830430 CA340284334	94	I>V		No	ClinGen gnomAD
rs1028304175 CA22252133	95	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1570434793 CA340284328	95	S>P		No	ClinGen Ensembl
rs1028304175 CA340284325	95	S>W		No	ClinGen TOPMed gnomAD
rs1383765596 CA340284323	96	A>T		No	ClinGen gnomAD
CA340284316 rs1337209529	97	L>P		No	ClinGen gnomAD
CA22252132 rs1053693878	99	S>R		No	ClinGen TOPMed
rs1397591404 CA340284290	101	Q>*		No	ClinGen gnomAD
CA340284269 rs1256337938	104	P>L		No	ClinGen TOPMed
rs1454234775 CA340284259	106	G>R		No	ClinGen gnomAD
rs1381696278 CA340284254	107	E>K		No	ClinGen gnomAD
rs746748124 CA843328	108	N>H		No	ClinGen ExAC
rs1443682325 CA340284243	108	N>S		No	ClinGen TOPMed gnomAD
rs1189145921 CA340284216	112	V>M		No	ClinGen TOPMed gnomAD
rs1261402650 CA340284198	115	H>R		No	ClinGen gnomAD
CA340284199 rs1445642998	115	H>Y		No	ClinGen gnomAD
CA22252129 rs940259929	116	E>K		No	ClinGen TOPMed gnomAD
rs940259929 CA340284193	116	E>Q		No	ClinGen TOPMed gnomAD
TCGA novel	117	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA340284134 rs1557702211	120	R>C		No	ClinGen Ensembl
rs1245315021 CA340284115	120	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA340284072 rs1557702201	123	R>C		No	ClinGen Ensembl
CA340284071 rs1360200108	123	R>H		No	ClinGen TOPMed gnomAD
rs777601636 CA22252126	125	L>P		No	ClinGen Ensembl
rs1400710128 CA340284031	126	D>E		No	ClinGen TOPMed
rs757993011 CA843325	129	K>R		No	ClinGen ExAC TOPMed gnomAD
CA22252124 rs1056660626	130	L>M		No	ClinGen TOPMed
rs1324525810 CA340283957	130	L>S		No	ClinGen gnomAD
TCGA novel	131	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA340283879 rs1317366155	133	P>L		No	ClinGen gnomAD
CA340283780 rs1301163211	138	P>S		No	ClinGen gnomAD
rs978818661 CA340283767	139	A>S		No	ClinGen TOPMed gnomAD
rs978818661 CA22252123	139	A>T		No	ClinGen TOPMed gnomAD
rs1164652606 CA340283764	139	A>V		No	ClinGen TOPMed gnomAD
CA340283737 rs1474215819	141	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs750996564 CA843321	142	G>S		No	ClinGen ExAC TOPMed gnomAD
CA340283696 rs1489586845	144	G>E		No	ClinGen gnomAD
rs1229773129 CA340283628	149	Y>H		No	ClinGen gnomAD
CA340283583 rs1192087127	152	N>D		No	ClinGen TOPMed
rs755018784 CA22252121	152	N>S		No	ClinGen TOPMed gnomAD
rs1194360587 CA340283550	153	A>D		No	ClinGen gnomAD
CA340283559 rs1294022006	153	A>T		No	ClinGen gnomAD
rs1194360587 CA340283546	153	A>V		No	ClinGen gnomAD
rs774531722 CA843318	155	A>S		No	ClinGen ExAC TOPMed gnomAD
rs774531722 CA22252120	155	A>T		No	ClinGen ExAC TOPMed gnomAD
CA843317 rs764444049	155	A>V		No	ClinGen ExAC TOPMed gnomAD
CA340283511 rs1404198902	156	G>C		No	ClinGen gnomAD
rs1404198902 CA340283515	156	G>S		No	ClinGen gnomAD
CA340283505 rs1365722997	156	G>V		No	ClinGen gnomAD
rs1395298346 CA340283487	157	N>K		No	ClinGen gnomAD
rs775730537 CA843315	157	N>S		No	ClinGen ExAC gnomAD
rs1168090856 CA340283474	158	W>*		No	ClinGen gnomAD
rs1168090856 CA340283475	158	W>L		No	ClinGen gnomAD
rs770058867 CA843314	160	R>C		No	ClinGen ExAC gnomAD
CA340283448 rs1427562981	160	R>H		No	ClinGen gnomAD
rs745942284 CA843313	161	K>R		No	ClinGen ExAC gnomAD
rs1248599447 CA340283419	162	R>T		No	ClinGen gnomAD
CA340283405 rs1437257724	163	P>S		No	ClinGen gnomAD
CA843311 rs770750292	164	V>I		No	ClinGen ExAC TOPMed gnomAD
CA340283401 rs770750292	164	V>L		No	ClinGen ExAC TOPMed gnomAD
rs987993543 CA22252118	166	V>M		No	ClinGen TOPMed gnomAD
rs1276163737 CA340283358	170	V>I		No	ClinGen gnomAD
rs1439406222 CA340283341	172	S>L		No	ClinGen TOPMed gnomAD
rs1329159456 CA340283327	174	T>I		No	ClinGen gnomAD
CA843307 rs756397563	176	R>G		No	ClinGen ExAC TOPMed gnomAD
rs896044079 CA22252115	177	D>E		No	ClinGen TOPMed gnomAD
rs1176157755 CA340283310	177	D>H		No	ClinGen gnomAD
rs1176157755 CA340283311	177	D>N		No	ClinGen gnomAD
rs1457878912 CA340283305	178	V>M		No	ClinGen gnomAD
CA22252113 rs543263476	179	R>C		No	ClinGen 1000Genomes gnomAD
rs996951079 CA22252112	179	R>H		No	ClinGen TOPMed
CA340283285 rs1469719944	181	R>C		No	ClinGen gnomAD
CA340283282 rs1233478395	181	R>H		No	ClinGen gnomAD
rs1180798899 CA340283281	182	G>S		No	ClinGen gnomAD
CA340283276 rs1460123521	182	G>V		No	ClinGen gnomAD
CA340283268 rs1241111295	184	P>A		No	ClinGen gnomAD
rs199656090 CA843305	185	V>L		No	ClinGen ExAC TOPMed gnomAD
rs199656090 CA340283263	185	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	194	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1279606520 CA340283123	200	T>I		No	ClinGen gnomAD
rs1016966417 CA22252110	200	T>S		No	ClinGen TOPMed
rs1335604406 CA340283016	207	V>A		No	ClinGen gnomAD
rs1380108553 CA340283019	207	V>M		No	ClinGen gnomAD
CA340282959 rs1453845002	211	C>S		No	ClinGen gnomAD
CA340282950 rs1400843718	211	C>Y		No	ClinGen TOPMed
TCGA novel	216	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	217	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA22252109 rs777075581	219	N>Y		No	ClinGen Ensembl
rs1569980232 CA340283087	230	T>P		No	ClinGen Ensembl
CA22230404 rs561596852	237	V>M		No	ClinGen 1000Genomes
rs1323139070 CA340282986	238	R>Q		No	ClinGen gnomAD
CA22230402 rs543217834	238	R>W		No	ClinGen 1000Genomes TOPMed gnomAD
CA340282968 rs1214360880	240	G>R		No	ClinGen TOPMed gnomAD
CA22230399 rs185613933	241	S>N		No	ClinGen 1000Genomes
CA22230398 rs894236213	241	S>R		No	ClinGen TOPMed
CA340282940 rs1375939201	243	Q>P		No	ClinGen TOPMed
CA22230394 rs182463002	246	Y>C		No	ClinGen 1000Genomes TOPMed gnomAD
rs541790975 CA22230393	248	T>M		No	ClinGen 1000Genomes TOPMed gnomAD
CA340282772 rs1451729972	255	Y>*		No	ClinGen TOPMed
CA340282770 rs1294193427	256	N>H		No	ClinGen gnomAD
CA22230390 rs772993491	256	N>S		No	ClinGen Ensembl
rs1231137057 CA340282746	259	D>N		No	ClinGen TOPMed
rs1169927382 CA340282732	261	S>R		No	ClinGen gnomAD
rs1384765892 CA340282723	262	A>E		No	ClinGen TOPMed
rs147317864 CA22230388	262	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs147317864 CA843288	262	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA22230387 rs189808956	266	N>S		No	ClinGen 1000Genomes TOPMed gnomAD
rs1391516602 CA340282675	269	T>A		No	ClinGen TOPMed
rs1557572803 CA340282184	274	N>T		No	ClinGen Ensembl
CA340282186 rs1557572813	274	N>Y		No	ClinGen Ensembl
CA340282158 rs1430216784	276	I>T		No	ClinGen TOPMed
CA340282149 rs1569957606	277	N>T		No	ClinGen Ensembl
CA22229674 rs911507933	278	T>P		No	ClinGen Ensembl
rs753085750 CA340282132	279	T>A		No	ClinGen ExAC TOPMed gnomAD
rs545430601 CA340282125	279	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753085750 CA843274	279	T>P		No	ClinGen ExAC TOPMed gnomAD
rs545430601 CA843273	279	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs955583843 CA22229673	280	L>P		No	ClinGen gnomAD
CA340282101 rs1323195137	281	P>L		No	ClinGen TOPMed gnomAD
rs1323195137 CA340282105	281	P>Q		No	ClinGen TOPMed gnomAD
CA340282084 rs1407135552	283	H>N		No	ClinGen TOPMed
rs1035538054 CA22229671	283	H>Q		No	ClinGen Ensembl
rs1236008749 CA340282073	284	E>*		No	ClinGen TOPMed gnomAD
rs1236008749 CA340282075	284	E>K		No	ClinGen TOPMed gnomAD
rs1236008749 CA340282074	284	E>Q		No	ClinGen TOPMed gnomAD
rs1214891466 CA340282061	285	Q>P		No	ClinGen gnomAD
CA22229670 rs1002769207	286	V>M		No	ClinGen Ensembl
rs1315252787 CA340282029	287	T>M		No	ClinGen TOPMed gnomAD
CA340281975 rs1447883485	291	I>S		No	ClinGen gnomAD
CA843270 rs766310785	292	D>G		No	ClinGen ExAC gnomAD
TCGA novel	292	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770380865 CA22229669	296	R>H		No	ClinGen TOPMed gnomAD
TCGA novel	296	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1401183370 CA340281905	297	Q>R		No	ClinGen gnomAD
rs967325297 CA22229668	298	E>K		No	ClinGen Ensembl
CA340281884 rs1205272547	299	L>F		No	ClinGen TOPMed
rs910346449 CA22229667	300	I>F		No	ClinGen TOPMed
CA22229666 rs985588653	301	Y>C		No	ClinGen TOPMed gnomAD
rs1569957097 CA340281868	301	Y>H		No	ClinGen Ensembl
CA340281850 rs1303376161	302	K>R		No	ClinGen gnomAD
CA22229665 rs1027024751	304	N>H		No	ClinGen TOPMed
rs1361634805 CA340281798	306	R>C	Variant assessed as Somatic; 0.0001422 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1157520009 CA340281789	306	R>H		No	ClinGen TOPMed gnomAD
TCGA novel	306	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781141705 CA22229663	307	M>I		No	ClinGen Ensembl
rs748679292 CA22229664	307	M>L		No	ClinGen TOPMed gnomAD
CA340281779 rs748679292	307	M>V		No	ClinGen TOPMed gnomAD
TCGA novel	309	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA340281731 rs1181329327	311	V>I		No	ClinGen TOPMed gnomAD
rs781498332 CA22229661	313	A>V		No	ClinGen TOPMed gnomAD
CA843265 rs143604482	316	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1257275339 CA340281673	316	R>W		No	ClinGen gnomAD
CA22229659 rs1053821010	319	E>K		No	ClinGen TOPMed gnomAD
rs1240979775 CA340281616	320	D>Y		No	ClinGen gnomAD
rs1355859058 CA340281563	324	F>S		No	ClinGen gnomAD
CA22229658 rs1007667930	326	A>V		No	ClinGen TOPMed
rs1339703145 CA340281505	330	G>S		No	ClinGen gnomAD
rs1357308556 CA340280717	330	G>V		No	ClinGen gnomAD
TCGA novel	338	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748551785 CA843255	338	V>I		No	ClinGen ExAC TOPMed gnomAD
CA340280655 rs893325428	340	D>H		No	ClinGen TOPMed gnomAD
CA22227857 rs893325428	340	D>N		No	ClinGen TOPMed gnomAD
TCGA novel	341	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA843254 rs200584586	343	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA340280635 rs1224977208	343	R>W		No	ClinGen TOPMed
CA340280612 rs1235047419	347	L>M		No	ClinGen TOPMed
rs1569903244 CA340280594	349	V>G		No	ClinGen Ensembl
rs1470802230 CA340280590	350	D>A		No	ClinGen TOPMed
CA340280572 rs1164571983	352	T>I		No	ClinGen gnomAD
rs1569903215 CA340280577	352	T>P		No	ClinGen Ensembl
rs1460814883 CA340280569	353	P>A		No	ClinGen TOPMed gnomAD
CA340280568 rs1383804951	353	P>H		No	ClinGen TOPMed
CA843253 rs566510560	355	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1266942874 CA340280538	358	I>V		No	ClinGen TOPMed gnomAD
rs1198272847 CA340280531	359	H>Y		No	ClinGen gnomAD
rs1331139908 CA340279213	361	P>T		No	ClinGen gnomAD
CA340279202 rs1412956037	362	A>V		No	ClinGen TOPMed gnomAD
rs984997602 CA22227518	365	S>R		No	ClinGen TOPMed gnomAD
rs930496835 CA22227517	366	P>L		No	ClinGen TOPMed gnomAD
CA340279178 rs1159662123	366	P>S		No	ClinGen TOPMed
CA843245 rs146196345	367	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA843246 rs146196345	367	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA843244 rs762805154	370	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1352927339 CA340279137	373	T>N		No	ClinGen TOPMed
CA340279140 rs1569893230	373	T>P		No	ClinGen Ensembl
rs1049499265 CA22227515	374	S>L		No	ClinGen TOPMed gnomAD
rs1427824403 CA340279124	375	T>M		No	ClinGen TOPMed gnomAD
rs1478412204 CA340279120	376	S>N		No	ClinGen TOPMed gnomAD
rs58366003 CA843243	377	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs536811618 CA22227511	379	P>L		No	ClinGen 1000Genomes
rs1235986922 CA340279088	381	T>I		No	ClinGen TOPMed
rs1235986922 CA340279089	381	T>N		No	ClinGen TOPMed
CA340279093 rs1569893047	381	T>P		No	ClinGen Ensembl
rs1177294755 CA340279070	384	A>V		No	ClinGen TOPMed
CA340279069 rs1418065899	385	A>T		No	ClinGen TOPMed gnomAD
rs1163647093 CA340279059	386	V>A		No	ClinGen TOPMed gnomAD
rs1031097780 CA22227508	388	E>K		No	ClinGen TOPMed gnomAD
rs551786764 CA22227507	389	A>T		No	ClinGen Ensembl
TCGA novel	390	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA340279029 rs1557556732	391	S>C		No	ClinGen Ensembl
CA340279019 rs1569892822	393	T>P		No	ClinGen Ensembl
CA340279009 rs1569892806	395	T>P		No	ClinGen Ensembl
CA22227504 rs904035955	396	A>T		No	ClinGen TOPMed gnomAD
rs569339407 CA843241	400	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA340278946 rs1317609724	404	A>D		No	ClinGen TOPMed
CA340278942 rs1197162233	405	L>V		No	ClinGen TOPMed
CA340278937 rs1345167659	406	S>P		No	ClinGen gnomAD
CA340278927 rs1439222331	407	P>L		No	ClinGen TOPMed
rs1569892585 CA340278930	407	P>S		No	ClinGen Ensembl
CA340278923 rs1569892527	408	H>P		No	ClinGen Ensembl
CA340278920 rs1204821581	408	H>Q		No	ClinGen TOPMed
rs1335750998 CA340278899	412	P>H		No	ClinGen gnomAD
rs1035769499 CA22227501	412	P>S		No	ClinGen TOPMed
rs141542447 CA843239	413	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA22227500 rs1022051941	415	L>F		No	ClinGen TOPMed gnomAD
CA340278880 rs1022051941	415	L>I		No	ClinGen TOPMed gnomAD
CA340278878 rs1375674915	415	L>P		No	ClinGen TOPMed gnomAD
rs571587461 CA843238	417	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1449512061 CA340278862	417	Q>H		No	ClinGen gnomAD
CA340278864 rs1391328895	417	Q>L		No	ClinGen gnomAD
CA340278851 rs1404307670	419	E>V		No	ClinGen gnomAD
rs1410725067 CA340278841	420	E>D		No	ClinGen TOPMed
CA340278838 rs1569892255	421	F>V		No	ClinGen Ensembl
rs1048824037 CA22227497	423	R>Q		No	ClinGen TOPMed gnomAD
rs892067057 CA22227498	423	R>W		No	ClinGen TOPMed gnomAD
CA843237 rs779460962	426	K>M		No	ClinGen ExAC gnomAD
CA340278799 rs1569892172	427	W>G		No	ClinGen Ensembl
rs930442384 CA22227495	434	H>Q		No	ClinGen TOPMed gnomAD
rs370560173 CA22227496	434	H>R		No	ClinGen Ensembl
rs1294384012 CA340278732	436	R>Q		No	ClinGen TOPMed
CA22227493 rs927176023	436	R>W		No	ClinGen gnomAD
CA340278724 rs1324799083	437	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA340278722 rs1381154570	438	R>W		No	ClinGen TOPMed gnomAD
CA340278716 rs1196004757	439	Q>*		No	ClinGen TOPMed
CA340278708 rs1569892004	440	F>V		No	ClinGen Ensembl
rs755363202 CA843236	441	N>D		No	ClinGen ExAC gnomAD
CA340278697 rs1569891980	441	N>K		No	ClinGen Ensembl
rs919659872 CA340278663	446	R>H		No	ClinGen TOPMed gnomAD
rs919659872 CA22227490	446	R>L		No	ClinGen TOPMed gnomAD
rs1405636253 CA340278654	448	E>K		No	ClinGen TOPMed gnomAD
CA340278638 rs1374570685	450	S>R		No	ClinGen TOPMed
rs1569862254 CA340278613	451	T>I		No	ClinGen Ensembl
rs751567051 CA340278605	453	A>S		No	ClinGen ExAC gnomAD
CA843229 rs751567051	453	A>T		No	ClinGen ExAC gnomAD
rs989033446 CA22226304	453	A>V		No	ClinGen TOPMed gnomAD
CA340278601 rs1569862210	454	S>P		No	ClinGen Ensembl
rs1218425268 CA340278586	456	P>L		No	ClinGen TOPMed gnomAD
rs956841389 CA22226303	456	P>S		No	ClinGen TOPMed
CA22226302 rs911971174	457	P>A		No	ClinGen TOPMed
CA340278581 rs1319539371	457	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA340278575 rs1288962803	459	P>A		No	ClinGen gnomAD
CA340278567 rs1276878556	460	L>P		No	ClinGen TOPMed gnomAD
CA340278566 rs1276878556	460	L>R		No	ClinGen TOPMed gnomAD
CA22226299 rs1028918790	461	Q>E		No	ClinGen TOPMed gnomAD
CA340278564 rs1028918790	461	Q>K		No	ClinGen TOPMed gnomAD
rs1027677594 CA22226298	462	P>L		No	ClinGen TOPMed gnomAD
CA340278547 rs1454618949	463	T>I		No	ClinGen gnomAD
CA340278539 rs1300106294	464	H>Q		No	ClinGen gnomAD
rs1001858376 CA340278537	465	S>C		No	ClinGen TOPMed gnomAD
rs1001858376 CA22226297	465	S>G		No	ClinGen TOPMed gnomAD
CA22226296 rs995115987	466	S>L		No	ClinGen TOPMed gnomAD
rs1024670251 CA22226295	468	T>A		No	ClinGen gnomAD
CA22226294 rs188065494	469	A>T		No	ClinGen 1000Genomes TOPMed gnomAD
CA22226293 rs1015119304	470	K>R		No	ClinGen TOPMed
CA340278494 rs1487181531	472	P>H		No	ClinGen TOPMed gnomAD
CA340278492 rs1487181531	472	P>L		No	ClinGen TOPMed gnomAD
rs1487181531 CA340278493	472	P>R		No	ClinGen TOPMed gnomAD
TCGA novel	474	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA340278446 rs1323929440	479	L>I		No	ClinGen gnomAD
CA843225 rs764824880	480	Q>P		No	ClinGen ExAC gnomAD
rs1185694484 CA340278415	483	D>G		No	ClinGen TOPMed
rs1319189579 CA340278417	483	D>N		No	ClinGen TOPMed gnomAD
CA340278418 rs1319189579	483	D>Y		No	ClinGen TOPMed gnomAD
CA22226291 rs895606984	484	P>L		No	ClinGen TOPMed
CA843224 rs759189762	485	P>R		No	ClinGen ExAC gnomAD
rs1294393899 CA340278395	487	P>T		No	ClinGen gnomAD
CA340278389 rs936516501	488	A>P		No	ClinGen TOPMed gnomAD
rs936516501 CA340278388	488	A>S		No	ClinGen TOPMed gnomAD
CA22226288 rs936516501	488	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs903758988 CA22226287	491	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1319165925 CA340278359	492	A>V		No	ClinGen TOPMed
CA340278357 rs1424257225	493	P>T		No	ClinGen TOPMed gnomAD
CA340278351 rs1172684288	494	T>P		No	ClinGen gnomAD
rs1262669737 CA340278340	496	G>S		No	ClinGen gnomAD
rs1430973479 CA340278332	497	L>F		No	ClinGen gnomAD
TCGA novel	498	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA340278317 rs1489253263	499	P>L		No	ClinGen gnomAD
CA340278320 rs1191453504	499	P>S		No	ClinGen gnomAD
TCGA novel	499	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs61739636 CA843220	500	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA340278312 rs1458441998	500	A>V		No	ClinGen gnomAD
rs976757944 CA22226284	501	I>V		No	ClinGen TOPMed gnomAD
rs868539954 CA22226283	502	A>T		No	ClinGen TOPMed gnomAD
CA340278301 rs1302072099	502	A>V		No	ClinGen TOPMed gnomAD
CA843218 rs749648061	504	T>I		No	ClinGen ExAC TOPMed gnomAD
CA340278280 rs1330856468	506	A>S		No	ClinGen TOPMed gnomAD
rs1330856468 CA340278282	506	A>T		No	ClinGen TOPMed gnomAD
rs987526006 CA22226281	507	V>L		No	ClinGen TOPMed
CA340278257 rs1445817429	509	F>L		No	ClinGen TOPMed gnomAD
CA340278243 rs1299864143	512	H>R		No	ClinGen gnomAD
rs375233410 CA22226280	512	H>Y		No	ClinGen Ensembl
rs982934663 CA22226279	513	S>R		No	ClinGen Ensembl
rs1464455735 CA340278227	514	L>P		No	ClinGen TOPMed gnomAD
rs1464455735 CA340278228	514	L>R		No	ClinGen TOPMed gnomAD
rs61783236 CA22226278	515	G>E		No	ClinGen Ensembl
CA340278225 rs1376641838	515	G>R		No	ClinGen gnomAD
CA843216 rs61743569	516	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA340278204 rs1569861327	518	S>C		No	ClinGen Ensembl

No associated diseases with A6NFA1

No regional properties for A6NFA1

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for A6NFA1

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
integral component of organelle membrane	The component of the organelle membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

3 GO annotations of molecular function

Name	Definition
metal ion binding	Binding to a metal ion.
metalloendopeptidase activity	Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions.
Wnt-protein binding	Binding to a Wnt-protein, a secreted growth factor involved in signaling.

5 GO annotations of biological process

Name	Definition
negative regulation of Wnt signaling pathway	Any process that stops, prevents, or reduces the frequency, rate or extent of the Wnt signaling pathway.
positive regulation of protein oxidation	Any process that activates or increases the frequency, rate or extent of protein oxidation.
positive regulation of protein-containing complex assembly	Any process that activates or increases the frequency, rate or extent of protein complex assembly.
proteolysis	The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds.
Wnt signaling pathway	The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q86V40	TRABD2A	Metalloprotease TIKI1	Homo sapiens (Human)	PR
B1ATG9	Trabd2b	Metalloprotease TIKI2	Mus musculus (Mouse)	PR
F6PTN1	trabd2a	Metalloprotease TIKI1	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
E7F4V6	trabd2b	Metalloprotease TIKI2	Danio rerio (Zebrafish) (Brachydanio rerio)	PR
E7F6V0	trabd2a	Metalloprotease TIKI1	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MHAALAGPLL	AALLATARAR	PQPPDGGQCR	PPGSQRDLNS	FLWTIRRDPP	AYLFGTIHVP
70	80	90	100	110	120
YTRVWDFIPD	NSKAAFQAST	RVYFELDLTD	PYTISALASC	QLLPHGENLQ	DVLPHELYWR
130	140	150	160	170	180
LKRHLDYVKL	MMPSWMTPAQ	RGKGLYADYL	FNAIAGNWER	KRPVWVMLMV	NSLTERDVRF
190	200	210	220	230	240
RGVPVLDLYL	AQQAEKMKKT	TGAVEQVEEQ	CHPLNNGLNF	SQVLFALNQT	LLQQESVRAG
250	260	270	280	290	300
SLQASYTTED	LIKHYNCGDL	SAVIFNHDTS	QLPNFINTTL	PPHEQVTAQE	IDSYFRQELI
310	320	330	340	350	360
YKRNERMGKR	VMALLRENED	KICFFAFGAG	HFLGNNTVID	ILRQAGLEVD	HTPAGQAIHS
370	380	390	400	410	420
PAPQSPAPSP	EGTSTSPAPV	TPAAAVPEAP	SVTPTAPPED	EDPALSPHLL	LPDSLSQLEE
430	440	450	460	470	480
FGRQRKWHKR	QSTHQRPRQF	NDLWVRIEDS	TTASPPPLPL	QPTHSSGTAK	PPFQLSDQLQ
490	500	510
QQDPPGPASS	SAPTLGLLPA	IATTIAVCFL	LHSLGPS