AiPD: Autoinhibited Protein Database

Q8NFT2

Gene name	STEAP2 (PCANAP1, STAMP1, UNQ6507/PRO23203)
Protein name	Metalloreductase STEAP2
Names	Prostate cancer-associated protein 1, Protein up-regulated in metastatic prostate cancer, PUMPCn, Six-transmembrane epithelial antigen of prostate 2, SixTransMembrane protein of prostate 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:261729
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-51 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-51 (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

2 structures for Q8NFT2

Entry ID	Method	Resolution	Chain	Position	Source
7TAI	EM	320 A	A/B/C	1-490	PDB
AF-Q8NFT2-F1	Predicted				AlphaFoldDB

382 variants for Q8NFT2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1417443737 CA368070881	2	E>G		No	ClinGen gnomAD
rs1162810971 CA368070873	2	E>K		No	ClinGen TOPMed gnomAD
TCGA novel	3	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1584237564 COSM1726476 CA368070890 COSM1726475	3	S>P	liver [Cosmic]	No	ClinGen cosmic curated Ensembl
CA368070918 rs1462130109	5	S>C		No	ClinGen gnomAD
CA4332811 rs376335223	6	M>V		No	ClinGen ExAC TOPMed gnomAD
rs145665106 CA368070972	9	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs145665106 CA4332812	9	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	10	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA162194066 rs1023875293	11	K>*		No	ClinGen Ensembl
rs755795839 CA4332813	12	S>N		No	ClinGen ExAC gnomAD
TCGA novel	12	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs151108551 CA4332814	14	S>T		No	ClinGen ESP ExAC gnomAD
VAR_060387 rs194520 CA4332815	17	F>C		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	17	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs549185095 CA4332816	18	L>S		No	ClinGen ExAC TOPMed gnomAD
CA368071146 rs1292087990	19	P>R		No	ClinGen TOPMed gnomAD
rs1323477105 COSM1187347 COSM1187348 CA368071155	20	N>D	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA368071163 rs1335118752	20	N>S		No	ClinGen TOPMed gnomAD
CA4332817 rs767925349	21	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA368071197 rs1390893868	22	I>K		No	ClinGen TOPMed
rs907757586 CA162194090	22	I>V		No	ClinGen gnomAD
CA4332818 rs775656434	24	G>V		No	ClinGen ExAC TOPMed gnomAD
rs764195831 CA4332820	25	I>V		No	ClinGen ExAC gnomAD
rs753970968 CA4332821	26	K>R		No	ClinGen ExAC gnomAD
rs753970968 CA4332822	26	K>T		No	ClinGen ExAC gnomAD
CA368071336 rs1417216542	28	A>G		No	ClinGen gnomAD
rs961969714 CA162194123	28	A>T		No	ClinGen Ensembl
CA368071365 rs1475688516	30	K>E		No	ClinGen gnomAD
rs1165212094 CA368071382	31	V>F		No	ClinGen TOPMed gnomAD
CA4332823 rs765262644	34	G>V		No	ClinGen ExAC gnomAD
rs544909253 CA4332824	35	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754816299 CA4332825	38	S>N		No	ClinGen ExAC TOPMed gnomAD
CA368071532 rs922652304	38	S>R		No	ClinGen TOPMed gnomAD
rs17863046 CA162194170 VAR_060388	40	D>Y		No	ClinGen UniProt Ensembl dbSNP
CA4332826 rs781099862	43	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1466768845 CA368071662	44	S>Y		No	ClinGen TOPMed
COSM1092802 COSM1597206 rs1355526795 CA368071734	48	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs775060636 COSM1452672 CA4332827 COSM1452673	48	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA368071761 rs562731022	50	I>N		No	ClinGen ExAC gnomAD
rs562731022 CA4332828	50	I>T		No	ClinGen ExAC gnomAD
CA368071769 rs1584238078	51	R>*		No	ClinGen Ensembl
CA368071768 rs1584238078	51	R>G		No	ClinGen Ensembl
rs1349435129 CA368071783	52	C>G		No	ClinGen gnomAD
CA4332833 rs376806800	53	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA368071802 rs376806800	53	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4332831 COSM211039 rs748899164	53	G>S	Variant assessed as Somatic; 4.624e-05 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM1137760 rs376806800 COSM1137761 CA4332832	53	G>V	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs746397731 CA4332834	54	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA368071823 rs1463286510	55	H>R		No	ClinGen TOPMed gnomAD
rs1434666000 CA368071864	58	I>M		No	ClinGen TOPMed
rs911315862 CA162194255	60	S>R		No	ClinGen TOPMed gnomAD
rs1178501846 CA368071920	63	P>S		No	ClinGen TOPMed
CA4332835 rs575263490	64	K>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368071947 rs775987044	65	F>S		No	ClinGen ExAC TOPMed gnomAD
CA4332836 rs775987044	65	F>Y		No	ClinGen ExAC TOPMed gnomAD
CA368071959 rs1178178506	66	A>S		No	ClinGen gnomAD
rs760928329 CA4332837	66	A>V		No	ClinGen ExAC gnomAD
rs1433464113 CA368071965	67	S>A		No	ClinGen gnomAD
CA4332838 rs768964862	67	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1376523151 CA368071975	68	E>K		No	ClinGen gnomAD
rs567497144 CA162194276	68	E>V		No	ClinGen Ensembl
CA4332839 rs776871881	69	F>V		No	ClinGen ExAC gnomAD
CA368072011 rs1249359066	70	F>S		No	ClinGen TOPMed
CA162194296 rs760301564	72	H>R		No	ClinGen TOPMed
CA368072058 rs1311250001	74	V>I		No	ClinGen gnomAD
CA4332842 rs765315605	76	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA368072112 rs1316517802	78	H>R		No	ClinGen TOPMed gnomAD
rs867660953 CA162194302	78	H>Y		No	ClinGen TOPMed gnomAD
CA4332844 rs759585571	79	H>D		No	ClinGen ExAC gnomAD
rs1280015328 CA368072125	79	H>R		No	ClinGen TOPMed
CA162194311 rs999816393	80	E>K		No	ClinGen Ensembl
rs752585858 CA4332846	81	D>E		No	ClinGen ExAC gnomAD
rs767326487 CA4332845	81	D>N		No	ClinGen ExAC gnomAD
rs755884293 CA4332847	82	A>V		No	ClinGen ExAC TOPMed gnomAD
rs753542984 CA4332849	84	T>K		No	ClinGen ExAC gnomAD
CA162194347 rs28945132	85	K>*		No	ClinGen 1000Genomes ExAC gnomAD
CA4332850 rs28945132	85	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA162194351 rs940097298	86	T>A		No	ClinGen TOPMed
rs1452968002 CA368072202	86	T>R		No	ClinGen gnomAD
rs1396235781 CA368072225	88	I>T		No	ClinGen gnomAD
rs188071656 CA4332851	88	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	89	I>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4332852 rs745361732	92	A>G		No	ClinGen ExAC
rs1584238560 CA368072285	93	I>K		No	ClinGen Ensembl
CA162194356 rs977254802	93	I>M		No	ClinGen TOPMed
rs772688274 CA4332853	93	I>V		No	ClinGen ExAC TOPMed gnomAD
CA4332854 rs780453173	94	H>D		No	ClinGen ExAC gnomAD
CA162194357 rs780453173	94	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	96	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1395119218 CA368072332	97	H>N		No	ClinGen gnomAD
CA4332855 rs747513759	97	H>P		No	ClinGen ExAC gnomAD
CA368072336 COSM1637031 rs1395119218 COSM1637030	97	H>Y	bone [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1391750274 CA368072360	98	Y>F		No	ClinGen gnomAD
CA4332856 rs769016230	98	Y>H		No	ClinGen ExAC gnomAD
CA368072375 COSM134218 rs1448978788	99	T>N	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
CA368072371 rs1584238636	99	T>P		No	ClinGen Ensembl
CA4332857 rs776924821	100	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1332797473 CA368072414	101	L>R		No	ClinGen gnomAD
rs1268548373 CA368072433	102	W>*		No	ClinGen gnomAD
TCGA novel	105	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	105	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368073564 rs1375840374	106	H>Q		No	ClinGen TOPMed
rs1206987383 CA368073561	106	H>R		No	ClinGen gnomAD
rs1254646723 CA368073571	107	L>Q		No	ClinGen gnomAD
CA4332859 rs769999500	109	V>E		No	ClinGen ExAC gnomAD
rs1169104727 CA368073656	114	I>M		No	ClinGen TOPMed
CA368073652 rs1392016233	114	I>T		No	ClinGen TOPMed
rs1050302854 CA162194375	115	D>E		No	ClinGen TOPMed
rs762919375 CA4332861	116	V>L		No	ClinGen ExAC gnomAD
TCGA novel	117	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757071328 CA162194390	118	N>D		No	ClinGen Ensembl
CA368073733 rs1447788472	120	M>I		No	ClinGen TOPMed gnomAD
rs752605924 CA4332863	120	M>R		No	ClinGen ExAC gnomAD
rs140606206 CA4332862	120	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA162194401 rs1014750760	122	I>V		No	ClinGen Ensembl
CA4332864 rs760621859	123	N>H		No	ClinGen ExAC
CA368073874 rs1453887489	128	S>C		No	ClinGen gnomAD
rs763990661 CA4332865	129	N>H		No	ClinGen ExAC gnomAD
rs192846568 CA162194422	129	N>S		No	ClinGen 1000Genomes TOPMed gnomAD
CA368073911 rs1257278344	130	A>P		No	ClinGen TOPMed
rs757033190 CA4332867	131	E>D		No	ClinGen ExAC gnomAD
rs376578471 CA4332869	139	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs376578471 CA4332868	139	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1326387086 CA368074042	140	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs892310309 CA162194440	143	V>A		No	ClinGen TOPMed gnomAD
CA368074070 rs1305869238	144	K>N		No	ClinGen TOPMed
rs757881604 CA4332871	149	V>I		No	ClinGen ExAC gnomAD
CA4332873 rs184342595	159	K>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1333017546 CA368074176	160	D>G		No	ClinGen gnomAD
CA368074182 rs1266463978	161	A>D		No	ClinGen gnomAD
CA4332874 rs755465216	161	A>T		No	ClinGen ExAC gnomAD
COSM1092803 CA4332876 rs145671164 COSM1597205	163	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
COSM1755406 CA4332875 rs781606488 COSM1755405	163	R>W	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC
CA368074196 rs1203693761	164	Q>K		No	ClinGen gnomAD
CA4332877 rs202014102	164	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs764957874 CA4332904	166	Y>H		No	ClinGen ExAC gnomAD
rs773049259 CA4332905	170	N>D		No	ClinGen ExAC gnomAD
CA368074258 rs1378103308	171	N>D		No	ClinGen gnomAD
CA4332906 rs762581573	172	I>T		No	ClinGen ExAC gnomAD
CA4332907 rs766025522 COSM1623275 COSM1623274	174	A>V	liver large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4332909 rs759069761	175	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs753206117 CA4332911	175	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs910318063 CA162195299	176	Q>*		No	ClinGen TOPMed
CA162195303 rs943142942	179	I>T		No	ClinGen TOPMed gnomAD
rs1194862864 CA368074333	180	E>D		No	ClinGen gnomAD
rs138677634 CA4332912	182	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA162195309 rs140327118	182	A>V		No	ClinGen ESP gnomAD
rs201664662 CA4332913	183	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs754223269 CA4332914	183	R>H		No	ClinGen ExAC TOPMed gnomAD
CA162195310 COSM3674985 rs201664662 COSM3674984	183	R>S	prostate [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1390713565 CA368074380	184	Q>*		No	ClinGen TOPMed
CA4332915 rs143612511	184	Q>P		No	ClinGen ESP ExAC gnomAD
CA368074385 rs143612511	184	Q>R		No	ClinGen ESP ExAC gnomAD
CA162195314 rs112527070	185	L>S		No	ClinGen Ensembl
rs779169891 CA4332916	188	I>F		No	ClinGen ExAC gnomAD
rs779169891 CA4332917	188	I>V		No	ClinGen ExAC gnomAD
rs772286666 CA4332918	190	I>T		No	ClinGen ExAC gnomAD
CA368074488 rs1374023150	190	I>V		No	ClinGen TOPMed
rs772921972 CA368074544	192	L>F		No	ClinGen ExAC gnomAD
CA368074558 rs1370665650	193	G>V		No	ClinGen gnomAD
CA162195338 rs866349675	194	S>F		No	ClinGen Ensembl
CA368074585 rs1440990183	195	L>F		No	ClinGen TOPMed
rs762787509 CA4332923	195	L>V		No	ClinGen ExAC gnomAD
CA368074608 rs1393361635	199	R>T		No	ClinGen TOPMed
TCGA novel	200	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs998811577 CA162195341	201	I>T		No	ClinGen TOPMed
rs1305406642 CA368074636	202	E>A		No	ClinGen gnomAD
CA162195353 rs376878900	205	P>S		No	ClinGen Ensembl
rs1226320091 CA368074701	206	L>Q		No	ClinGen gnomAD
rs148055758 CA4332925	207	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA162195365 rs867030166	207	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs767026261 CA4332927	210	T>I		No	ClinGen ExAC gnomAD
rs13228098 CA4332928 VAR_057727 COSM1579569 COSM1579568	214	G>E	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4332929 rs761149324	217	V>M		No	ClinGen ExAC gnomAD
CA368074904 rs1486798410	220	I>T		No	ClinGen gnomAD
CA4332930 rs138763223	221	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754201388 CA4332931	221	S>N		No	ClinGen ExAC gnomAD
CA368074953 rs1424385775	223	A>G		No	ClinGen gnomAD
CA368074949 rs1428298183	223	A>T		No	ClinGen TOPMed gnomAD
CA368074994 rs1324408719	225	F>L		No	ClinGen TOPMed gnomAD
rs754344704	227	F>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA4332934 rs757659386	227	F>S		No	ClinGen ExAC gnomAD
CA368075038 rs1295645349	228	L>F		No	ClinGen gnomAD
rs754344704	228	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368075051 rs1360384475	229	Y>C		No	ClinGen gnomAD
rs1360384475 CA368075052	229	Y>F		No	ClinGen gnomAD
CA368075060 rs779357194	230	S>C		No	ClinGen ExAC gnomAD
CA4332936 rs779357194	230	S>F		No	ClinGen ExAC gnomAD
CA4332938 rs373117625	234	D>V		No	ClinGen ESP ExAC
rs768007649 CA162195425	235	V>A		No	ClinGen Ensembl
rs1261030570 CA368075124	235	V>L		No	ClinGen TOPMed
CA4332939 rs780350947	236	I>F		No	ClinGen ExAC gnomAD
CA4332940 rs747081106	237	H>N		No	ClinGen ExAC gnomAD
CA4332941 rs769669542	237	H>Q		No	ClinGen ExAC gnomAD
rs1223754859 CA368075219	241	R>G		No	ClinGen gnomAD
CA4332942 rs777790170	241	R>I		No	ClinGen ExAC TOPMed gnomAD
CA4332943 rs749141030	244	Q>K		No	ClinGen ExAC
rs1351494978	245	S>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA162195454 rs942959123	245	S>C		No	ClinGen TOPMed gnomAD
rs942959123 CA368075300	245	S>G		No	ClinGen TOPMed gnomAD
rs1054531633 CA162195463	245	S>N		No	ClinGen TOPMed gnomAD
CA368075298 rs942959123	245	S>R		No	ClinGen TOPMed gnomAD
CA4332945 rs564034572	246	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1386150512 CA368075363	248	Y>C		No	ClinGen TOPMed
CA4332946 rs774071756	248	Y>H		No	ClinGen ExAC gnomAD
TCGA novel	250	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4332948 rs771706767	252	I>M		No	ClinGen ExAC gnomAD
rs1418245275 CA368075441	252	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs745577344 CA4332947	252	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1406444785 CA368075468	254	I>L		No	ClinGen gnomAD
CA162195502 rs773255578	254	I>T		No	ClinGen TOPMed gnomAD
rs1562809754 CA368075512	256	N>S		No	ClinGen Ensembl
CA162195507 rs1010725199	260	P>S		No	ClinGen TOPMed gnomAD
rs775017410 CA4332950	261	I>M		No	ClinGen ExAC gnomAD
CA162195508 rs972316007	261	I>V		No	ClinGen TOPMed gnomAD
CA4332952 rs763460205	262	V>D		No	ClinGen ExAC gnomAD
rs760208489 CA4332951	262	V>I		No	ClinGen ExAC gnomAD
rs777799678 CA4332953	263	A>K		No	ClinGen ExAC gnomAD
CA4332954 rs777202558	263	A>T		No	ClinGen ExAC gnomAD
TCGA novel	270	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA162195556 rs907196717	271	Y>H		No	ClinGen TOPMed gnomAD
rs1217080128 CA368075675	272	L>F		No	ClinGen gnomAD
rs61731257 CA4332957	273	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4332958 rs758734882	277	A>E		No	ClinGen ExAC gnomAD
CA368075718 rs1211454301	279	A>V		No	ClinGen TOPMed
CA4332960 rs751685635	280	Y>C		No	ClinGen ExAC gnomAD
CA4332959 rs766686646	280	Y>H		No	ClinGen ExAC gnomAD
rs755118918 CA4332961	281	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs138124501 CA4332962	284	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4332964 rs200973137	285	G>S		No	ClinGen ExAC gnomAD
CA4332965 rs144406598	288	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1432457591 CA368075779	289	R>G		No	ClinGen gnomAD
CA162195636 rs962600860	289	R>K		No	ClinGen TOPMed
CA4332966 rs745628210	290	R>I		No	ClinGen ExAC gnomAD
CA4332967 rs771757573	292	P>A		No	ClinGen ExAC gnomAD
CA368075806 rs1277640683	293	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4332968 rs775143955	294	W>G		No	ClinGen ExAC TOPMed gnomAD
CA368075818 rs1311162988	295	L>M		No	ClinGen gnomAD
CA162195669 rs972875210	296	E>A		No	ClinGen TOPMed
TCGA novel	298	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368075843 rs1345525376	298	W>L		No	ClinGen gnomAD
CA4332969 rs148796822	299	L>S		No	ClinGen ESP ExAC gnomAD
CA4332971 rs142294463	300	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs142294463 CA4332970	300	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs762454234 CA4332972	306	G>R		No	ClinGen ExAC gnomAD
CA368075900 rs1212347924	306	G>V		No	ClinGen gnomAD
TCGA novel	312	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4332978 rs766811332	313	A>G		No	ClinGen ExAC TOPMed gnomAD
rs773761902 CA4332977 COSM247628	313	A>P	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs773761902 CA4332976	313	A>T		No	ClinGen ExAC TOPMed gnomAD
CA368075946 rs766811332	313	A>V		No	ClinGen ExAC TOPMed gnomAD
CA4332981 rs767691798	314	M>I		No	ClinGen ExAC TOPMed gnomAD
CA4332980 rs547113382	314	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4332983 rs757224618	316	H>R		No	ClinGen ExAC gnomAD
CA368075968 rs1584242777	317	V>I		No	ClinGen Ensembl
CA4332984 rs778795961	321	L>I		No	ClinGen ExAC gnomAD
TCGA novel	323	L>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779658541 CA4332987	324	P>L		No	ClinGen ExAC TOPMed gnomAD
rs780799112 CA4332990	325	M>I		No	ClinGen ExAC TOPMed gnomAD
rs747640058 CA4332991	326	R>G		No	ClinGen ExAC TOPMed gnomAD
rs773888694 CA4332993	327	R>S		No	ClinGen ExAC TOPMed gnomAD
CA4332992 rs769379726	327	R>W		No	ClinGen ExAC gnomAD
CA4332994 rs367758841	328	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1216372188 CA368076055	330	R>K		No	ClinGen TOPMed
TCGA novel	331	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771434263 CA4332995	335	N>S		No	ClinGen ExAC TOPMed gnomAD
CA4332997 rs371802306	336	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA4332996 rs565232783	336	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA4332998 rs766311883	337	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1426227414 CA368076560	343	A>E		No	ClinGen TOPMed
rs771336955 CA4333013	343	A>T		No	ClinGen ExAC TOPMed gnomAD
rs774819497 CA4333014	349	W>*		No	ClinGen ExAC TOPMed gnomAD
CA4333015 rs759796385	351	E>D		No	ClinGen ExAC gnomAD
CA162197286 rs372509068	357	I>V		No	ClinGen gnomAD
COSM1739323 rs775716930 COSM1739324 CA4333017	359	M>I	NS [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4333016 rs368179638	359	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA162197311 rs934385676	360	Y>C		No	ClinGen TOPMed gnomAD
TCGA novel	360	Y>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA162197316 rs200086517	361	I>V		No	ClinGen Ensembl
rs144320893 CA4333020	362	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs762922412 CA4333021	365	I>T		No	ClinGen ExAC gnomAD
rs1225803967 CA368076849	365	I>V		No	ClinGen TOPMed
CA4333022 rs766208606	366	M>I		No	ClinGen ExAC gnomAD
rs1313617523 CA368076891	368	L>F		No	ClinGen TOPMed
rs1395496655 CA368076946	373	L>F		No	ClinGen TOPMed
CA4333025 rs780975294	375	A>E		No	ClinGen ExAC gnomAD
CA368077009 rs1333559226	378	S>Y		No	ClinGen TOPMed
rs140360438 CA4333026	379	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA368077029 rs1450723976	380	P>S		No	ClinGen Ensembl
rs1157823387 CA368077058	382	V>A		No	ClinGen gnomAD
CA4333030 rs748774733	384	N>S		No	ClinGen ExAC gnomAD
CA4333031 rs757831104	385	A>T		No	ClinGen ExAC gnomAD
TCGA novel	388	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779305829 CA4333032	389	R>G		No	ClinGen ExAC
CA4333033 rs372324441	389	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA4333034 COSM1673267 COSM1673266 rs772324565	390	E>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA4333035 rs544787538	390	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747301199 CA4333036	392	S>G		No	ClinGen ExAC TOPMed
TCGA novel	393	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	393	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768838368 CA4333037	395	Q>E		No	ClinGen ExAC gnomAD
CA4333038 rs556720388	395	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
CA4333051 rs760628329	396	S>C		No	ClinGen ExAC gnomAD
CA368077435 rs1433222222	401	V>F		No	ClinGen TOPMed
rs902292884 CA368077445	402	A>S		No	ClinGen TOPMed gnomAD
CA4333056 rs902292884	402	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA368077454 rs1270587562	403	L>V		No	ClinGen gnomAD
CA368077468 rs1401415727	404	L>H		No	ClinGen TOPMed
CA368077462 rs1257220623	404	L>I		No	ClinGen gnomAD
CA4333058 rs34702944	405	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769778661 CA4333059	407	T>I		No	ClinGen ExAC gnomAD
rs1458875837 CA368077514	408	F>L		No	ClinGen gnomAD
rs1189249205 CA368077519	408	F>S		No	ClinGen gnomAD
rs759457260 CA4333061	410	V>A		No	ClinGen ExAC gnomAD
rs1373193817 CA368077571	412	I>M		No	ClinGen TOPMed
CA368077608 rs1177110875	415	W>*		No	ClinGen gnomAD
CA4333062 rs765409310	417	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs775473444 CA4333063	417	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1170521485 CA368077654	419	F>C		No	ClinGen gnomAD
CA162198592 rs960600859	419	F>L		No	ClinGen TOPMed
rs201387503 CA162198593 COSM323639	420	E>D	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes
rs1401669276 CA368077667	420	E>G		No	ClinGen gnomAD
TCGA novel	420	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4333064 rs760568907	421	E>K		No	ClinGen ExAC TOPMed gnomAD
rs376941669 CA4333066	425	R>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756873350 CA4333067	427	Y>D		No	ClinGen ExAC gnomAD
CA368077795 rs1584250294	430	P>Q		No	ClinGen Ensembl
CA368077793 rs1258551790	430	P>S		No	ClinGen gnomAD
CA162198622 rs1023529328	432	F>S		No	ClinGen Ensembl
TCGA novel	439	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4333069 rs749921424	441	I>V		No	ClinGen ExAC gnomAD
rs773418238 CA162198624	443	I>F		No	ClinGen gnomAD
CA368078020 rs970047039	444	L>P		No	ClinGen TOPMed gnomAD
rs970047039 CA162198640	444	L>R		No	ClinGen TOPMed gnomAD
CA368078177 rs1193035874	452	P>L		No	ClinGen gnomAD
CA368078172 rs1193035874	452	P>Q		No	ClinGen gnomAD
CA162198650 rs145139034	453	C>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs145139034 CA4333072	453	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs145139034 CA368078179	453	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA368078234 rs1163339763	455	S>N		No	ClinGen gnomAD
rs1349619724 CA368078250	456	R>*		No	ClinGen gnomAD
CA368078248 rs1349619724	456	R>G		No	ClinGen gnomAD
VAR_057728 rs194524 CA4333073	456	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs755340370 CA4333074	458	L>P		No	ClinGen ExAC gnomAD
rs781478177 CA4333075	460	R>*		No	ClinGen ExAC TOPMed gnomAD
rs748377577 CA4333076	460	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4333077 rs770052148	461	I>V		No	ClinGen ExAC gnomAD
CA4333078 rs143162174	462	K>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA368078361 rs143162174	462	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA368078368 rs1163775446	462	K>I		No	ClinGen TOPMed
TCGA novel	463	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	467	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368078480 rs1166060844	467	K>T		No	ClinGen gnomAD
CA4333079 rs749364965	468	S>G		No	ClinGen ExAC gnomAD
CA162198680 rs1000903187	470	F>L		No	ClinGen TOPMed
rs371026739 CA162198701	472	E>A		No	ClinGen Ensembl
rs1184423283 CA368078618	473	E>D		No	ClinGen TOPMed
CA4333080 rs771084877	473	E>K		No	ClinGen ExAC gnomAD
CA162198714 rs922737012	474	G>R		No	ClinGen TOPMed gnomAD
CA368078623 rs922737012	474	G>S		No	ClinGen TOPMed gnomAD
VAR_060389 CA4333081 rs194525 CA368078644 CA4333082	475	M>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1223502516 CA368078635	475	M>V		No	ClinGen gnomAD
CA368078651 rs1490849071	476	G>E		No	ClinGen TOPMed
rs768582190 CA4333083	476	G>R		No	ClinGen ExAC gnomAD
CA368078655 rs1490849071	476	G>V		No	ClinGen TOPMed
TCGA novel	478	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755322684 CA4333084	478	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1476449127 CA368078680	479	I>F		No	ClinGen gnomAD
rs761437491 CA4333085	479	I>T		No	ClinGen ExAC gnomAD
rs142681801 CA4333086	480	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA368078702 rs1424689053	481	H>Y		No	ClinGen gnomAD
CA368078714 rs1165853797	482	V>I		No	ClinGen gnomAD
CA162198742 rs890049192	483	S>F		No	ClinGen TOPMed gnomAD
rs890049192 CA368078728	483	S>Y		No	ClinGen TOPMed gnomAD
rs749998325 CA4333088	484	P>L		No	ClinGen ExAC TOPMed gnomAD
rs749998325 CA4333087	484	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA368078744 rs1346408290	485	E>K		No	ClinGen gnomAD
CA162198747 rs902241626	487	V>D		No	ClinGen TOPMed
rs1314464384 CA368078787	488	T>I		No	ClinGen gnomAD
rs1379802002 CA368078811	490	M>I		No	ClinGen gnomAD
TCGA novel	490	M>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q8NFT2

2 regional properties for Q8NFT2

Type	Name	Position	InterPro Accession
domain	Ferric reductase transmembrane component-like domain	260 - 404	IPR013130
domain	Pyrroline-5-carboxylate reductase, catalytic, N-terminal	32 - 118	IPR028939

Functions

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

7 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
early endosome	A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways.
endosome	A vacuole to which materials ingested by endocytosis are delivered.
endosome membrane	The lipid bilayer surrounding an endosome.
integral component of Golgi membrane	The component of the Golgi 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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
trans-Golgi network transport vesicle	A vesicle that mediates transport between the trans-Golgi network and other parts of the cell.

3 GO annotations of molecular function

Name	Definition
cupric reductase activity	Catalysis of the reaction: Cu+ + NAD+ + H+ = Cu2+ + NADH.
ferric-chelate reductase (NADPH) activity	Catalysis of the reaction: 2 Fe3+-siderophore + NADP(+) + H(+) -> 2 Fe2+-siderophore + NADPH.
metal ion binding	Binding to a metal ion.

7 GO annotations of biological process

Name	Definition
copper ion import	The directed movement of copper ions into a cell or organelle.
copper ion import across plasma membrane	The directed movement of copper ions from outside of a cell, across the plasma membrane and into the cytosol.
endocytosis	A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle.
Golgi to plasma membrane transport	The directed movement of substances from the Golgi to the plasma membrane in transport vesicles that move from the trans-Golgi network to the plasma membrane, where they fuse and release their contents by exocytosis.
iron ion import across plasma membrane	The directed movement of iron ions from outside of a cell, across the plasma membrane and into the cytosol.
regulated exocytosis	A process of exocytosis in which soluble proteins and other substances are initially stored in secretory vesicles for later release. It is found mainly in cells that are specialized for secreting products such as hormones, neurotransmitters, or digestive enzymes rapidly on demand.
response to hormone	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9UHE8	STEAP1	Metalloreductase STEAP1	Homo sapiens (Human)	PR
Q658P3	STEAP3	Metalloreductase STEAP3	Homo sapiens (Human)	PR
Q8BWB6	Steap2	Metalloreductase STEAP2	Mus musculus (Mouse)	PR
Q9GL50	STEAP1	Metalloreductase STEAP1	Sus scrofa (Pig)	PR

10	20	30	40	50	60
MESISMMGSP	KSLSETFLPN	GINGIKDARK	VTVGVIGSGD	FAKSLTIRLI	RCGYHVVIGS
70	80	90	100	110	120
RNPKFASEFF	PHVVDVTHHE	DALTKTNIIF	VAIHREHYTS	LWDLRHLLVG	KILIDVSNNM
130	140	150	160	170	180
RINQYPESNA	EYLASLFPDS	LIVKGFNVVS	AWALQLGPKD	ASRQVYICSN	NIQARQQVIE
190	200	210	220	230	240
LARQLNFIPI	DLGSLSSARE	IENLPLRLFT	LWRGPVVVAI	SLATFFFLYS	FVRDVIHPYA
250	260	270	280	290	300
RNQQSDFYKI	PIEIVNKTLP	IVAITLLSLV	YLAGLLAAAY	QLYYGTKYRR	FPPWLETWLQ
310	320	330	340	350	360
CRKQLGLLSF	FFAMVHVAYS	LCLPMRRSER	YLFLNMAYQQ	VHANIENSWN	EEEVWRIEMY
370	380	390	400	410	420
ISFGIMSLGL	LSLLAVTSIP	SVSNALNWRE	FSFIQSTLGY	VALLISTFHV	LIYGWKRAFE
430	440	450	460	470	480
EEYYRFYTPP	NFVLALVLPS	IVILGKIILF	LPCISRKLKR	IKKGWEKSQF	LEEGMGGTIP

HVSPERVTVM