AiPD: Autoinhibited Protein Database

Q8NHG8

Gene name	ZNRF2 (RNF202)
Protein name	E3 ubiquitin-protein ligase ZNRF2
Names	Protein Ells2, RING finger protein 202, RING-type E3 ubiquitin transferase ZNRF2, Zinc/RING finger protein 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:223082
EC number	2.3.2.27: Aminoacyltransferases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-175 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-175 (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 Q8NHG8

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8NHG8-F1	Predicted				AlphaFoldDB

183 variants for Q8NHG8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1221536508 CA367245261	2	G>C		No	ClinGen TOPMed
CA367245274 rs1347821428	3	A>T		No	ClinGen gnomAD
CA367245322 rs1239768249	4	K>Q		No	ClinGen gnomAD
CA367245337 rs1262391942	5	Q>E		No	ClinGen gnomAD
rs1303274563 CA367245361	7	G>C		No	ClinGen TOPMed gnomAD
rs1303274563 CA367245360	7	G>R		No	ClinGen TOPMed gnomAD
rs1303274563 CA367245359	7	G>S		No	ClinGen TOPMed gnomAD
CA367245364 rs1339711874	7	G>V		No	ClinGen TOPMed gnomAD
rs761956095 CA4204248	8	P>A		No	ClinGen ExAC TOPMed gnomAD
rs952268581 CA156592049	8	P>L		No	ClinGen TOPMed gnomAD
CA367245401 rs1227590084	10	A>V		No	ClinGen gnomAD
rs1398971025 CA367245405	11	A>V		No	ClinGen TOPMed
CA367245414 rs1269720585	12	N>K		No	ClinGen TOPMed gnomAD
rs1224760969 CA367245412	12	N>S		No	ClinGen TOPMed gnomAD
rs1488218643 CA367245419	13	G>D		No	ClinGen gnomAD
rs1192135641 CA367245426	14	R>L		No	ClinGen gnomAD
CA367245422 rs1201784771	14	R>S		No	ClinGen TOPMed gnomAD
CA367245433 rs1475940580	15	T>M		No	ClinGen TOPMed gnomAD
CA4204250 rs750693861	16	R>H		No	ClinGen ExAC gnomAD
TCGA novel	16	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1411141608 CA367245442	17	A>E		No	ClinGen TOPMed gnomAD
rs1411141608 CA367245443	17	A>G		No	ClinGen TOPMed gnomAD
rs1411141608 CA367245444	17	A>V		No	ClinGen TOPMed gnomAD
CA367245458 rs1163616735	19	S>L		No	ClinGen gnomAD
rs1273268126 CA367245461	20	G>C		No	ClinGen TOPMed
rs1332143328 CA367245468	21	S>L		No	ClinGen TOPMed
rs991752819 CA156592052	22	D>E		No	ClinGen TOPMed
CA367245475 rs1162382138	22	D>G		No	ClinGen gnomAD
CA156592053 rs913585707	24	P>S		No	ClinGen TOPMed gnomAD
CA156592054 rs945106276	25	S>F		No	ClinGen TOPMed gnomAD
CA367245489 rs1327003842	25	S>P		No	ClinGen gnomAD
CA367245498 rs1446972989	26	S>N		No	ClinGen gnomAD
CA367245504 rs1282240144	27	S>N		No	ClinGen TOPMed gnomAD
CA367245510 rs1429196772	28	S>G		No	ClinGen TOPMed
CA367245516 rs1352186120	28	S>R		No	ClinGen TOPMed
TCGA novel	29	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367245532 rs1395560838	31	A>D		No	ClinGen TOPMed gnomAD
rs780405670 CA4204252	32	N>S		No	ClinGen ExAC TOPMed gnomAD
CA4204253 rs753728684	33	G>A		No	ClinGen ExAC TOPMed gnomAD
CA367245556 rs1214623819	35	A>E		No	ClinGen gnomAD
rs1214623819 CA367245558	35	A>V		No	ClinGen gnomAD
rs1308820217 CA367245565	37	G>S		No	ClinGen gnomAD
CA156592056 rs932535983	40	G>D		No	ClinGen TOPMed
CA367245593 rs1187232561	41	A>G		No	ClinGen TOPMed gnomAD
CA367245589 rs1380538610	41	A>S		No	ClinGen gnomAD
CA156592057 rs1050106525	42	R>W		No	ClinGen TOPMed
TCGA novel	43	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367245622 rs1236109641	47	G>W		No	ClinGen TOPMed gnomAD
rs1227671330 CA367245631	48	R>T		No	ClinGen TOPMed
CA367245639 rs1360237580	49	F>S		No	ClinGen TOPMed gnomAD
CA156592058 rs962023236	49	F>V		No	ClinGen TOPMed
CA367245653 rs1213237700	51	A>V		No	ClinGen TOPMed
rs1370286948 CA367245657	52	Q>P		No	ClinGen TOPMed
CA367245680 rs1333493051	55	S>R		No	ClinGen TOPMed
CA367245687 rs1462684963	56	A>V		No	ClinGen TOPMed
CA367245695 rs1249803865	57	H>Q		No	ClinGen gnomAD
CA367245701 rs1372785071	58	Q>L		No	ClinGen TOPMed
rs1434693833 CA367245708	59	P>R		No	ClinGen TOPMed
CA156592061 rs557498081	60	S>G		No	ClinGen 1000Genomes TOPMed gnomAD
CA367245732 rs1480098921	63	G>D		No	ClinGen TOPMed
rs536666116 CA4204254	64	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1392053724 CA367245747	66	A>P		No	ClinGen TOPMed
rs1375810810 CA367245758	68	A>T		No	ClinGen TOPMed
rs1159833655 CA367245765	69	A>P		No	ClinGen gnomAD
rs1418003829 CA367245769	69	A>V		No	ClinGen TOPMed
CA367245786 rs1210693413	72	P>R		No	ClinGen TOPMed
CA367245784 rs1281490797	72	P>S		No	ClinGen TOPMed
rs1385392217 CA367245789	73	A>P		No	ClinGen TOPMed gnomAD
CA367245788 rs1385392217	73	A>S		No	ClinGen TOPMed gnomAD
CA367245790 rs1385392217	73	A>T		No	ClinGen TOPMed gnomAD
CA367245793 rs1445891464	73	A>V		No	ClinGen TOPMed gnomAD
CA367245795 rs1312029847	74	A>P		No	ClinGen TOPMed
CA367245794 rs1312029847	74	A>T		No	ClinGen TOPMed
rs1372172775 CA367245798	74	A>V		No	ClinGen TOPMed gnomAD
rs1583559001 CA367245806	76	A>T		No	ClinGen Ensembl
CA156592070 rs913553039	78	P>A		No	ClinGen TOPMed
rs1299669432 CA367245826	79	R>P		No	ClinGen TOPMed gnomAD
CA367245837 rs1166377589	81	R>S		No	ClinGen TOPMed
CA367245847 rs1475324365	82	S>F		No	ClinGen TOPMed
CA367245851 rs1256386645	83	L>V		No	ClinGen TOPMed
CA367245863 rs1264419941	85	G>W		No	ClinGen TOPMed
CA4204255 rs184594665	87	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs931332579 CA156592073	89	S>G		No	ClinGen TOPMed
CA156592075 rs925095983	94	A>S		No	ClinGen TOPMed gnomAD
CA156592074 rs925095983	94	A>T		No	ClinGen TOPMed gnomAD
rs1049546256 CA367245928	96	A>E		No	ClinGen TOPMed gnomAD
CA156592076 rs1049546256	96	A>G		No	ClinGen TOPMed gnomAD
CA367245929 rs1049546256	96	A>V		No	ClinGen TOPMed gnomAD
CA367245939 rs1315982767	98	Q>R		No	ClinGen gnomAD
CA367245948 rs1412653577	99	S>F		No	ClinGen TOPMed
CA156592077 rs912396825	100	P>A		No	ClinGen TOPMed
CA367245951 rs912396825	100	P>S		No	ClinGen TOPMed
rs1281380957 CA367245961	101	F>L		No	ClinGen TOPMed gnomAD
rs1200398311 CA367245979	104	P>A		No	ClinGen gnomAD
rs1200398311 CA367245980	104	P>S		No	ClinGen gnomAD
rs1166397645 CA367245991	105	N>K		No	ClinGen TOPMed
TCGA novel	105	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1462922885 CA367246019	109	G>D		No	ClinGen gnomAD
rs1461514467 CA367246016	109	G>S		No	ClinGen TOPMed
rs777225411 CA4204258	110	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs777225411 CA367246026	110	P>R		No	ClinGen ExAC TOPMed gnomAD
CA367246023 rs1583559075	110	P>S		No	ClinGen Ensembl
rs897814682 CA156592079	112	G>R		No	ClinGen TOPMed gnomAD
rs897814682 CA367246035	112	G>S		No	ClinGen TOPMed gnomAD
CA367246073 rs1468987960	117	V>G		No	ClinGen TOPMed
rs1215564193 CA367246069	117	V>L		No	ClinGen TOPMed
rs1272727353 CA367246095	120	S>I		No	ClinGen TOPMed
rs1170740940 CA367246100	121	P>S		No	ClinGen gnomAD
CA156592081 rs1049606979	123	D>E		No	ClinGen TOPMed gnomAD
rs1270537197 CA367246116	123	D>G		No	ClinGen TOPMed
CA367246124 rs1470108774	124	G>V		No	ClinGen gnomAD
rs776251695 CA4204262	126	G>S		No	ClinGen ExAC gnomAD
CA367246135 rs1399785257	126	G>V		No	ClinGen gnomAD
rs1203633005 CA367246136	127	G>S		No	ClinGen TOPMed gnomAD
rs763439410 CA4204263	129	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1330913241 CA367246148	129	D>H		No	ClinGen gnomAD
rs768835266 CA4204264	130	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs774932282 CA4204265	131	P>A		No	ClinGen ExAC TOPMed
CA156592082 rs927409888	132	V>G		No	ClinGen Ensembl
rs1326330641 CA367246175 CA367246174	134	G>R		No	ClinGen TOPMed gnomAD
CA367246176 rs1326330641	134	G>W		No	ClinGen TOPMed gnomAD
CA156592083 rs937468746	135	S>G		No	ClinGen Ensembl
rs767733858 CA4204267	135	S>T		No	ClinGen ExAC TOPMed gnomAD
rs750567165 CA4204268	136	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1250881912 CA367246194	137	G>D		No	ClinGen gnomAD
CA367246192 rs1197184095	137	G>R		No	ClinGen gnomAD
rs1196197106 CA367246201	138	G>V		No	ClinGen gnomAD
rs1033830989 CA367246207	139	P>L		No	ClinGen TOPMed gnomAD
rs1033830989 CA156592085	139	P>Q		No	ClinGen TOPMed gnomAD
rs760828374 CA4204269	140	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs766778624 CA367246219	142	V>L		No	ClinGen ExAC TOPMed gnomAD
rs766778624 CA4204270	142	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	144	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367246231 rs1194975102	144	G>R		No	ClinGen TOPMed
rs754819476 CA4204272	146	L>S		No	ClinGen ExAC TOPMed gnomAD
rs541343305 CA367246257	148	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs541343305 CA4204273	148	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4204276 rs758372967	149	H>Q		No	ClinGen ExAC gnomAD
CA4204274 rs752713010	149	H>Y		No	ClinGen ExAC gnomAD
CA4204277 rs746578454	150	L>F		No	ClinGen ExAC gnomAD
CA367246285 rs966347232	153	H>P		No	ClinGen TOPMed
CA4204281 rs745452890	153	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA156592087 rs966347232	153	H>R		No	ClinGen TOPMed
rs774537833 CA4204282	154	M>L		No	ClinGen ExAC TOPMed gnomAD
rs772751188 CA4204284	154	M>R		No	ClinGen ExAC gnomAD
CA4204283 rs774537833	154	M>V		No	ClinGen ExAC TOPMed gnomAD
CA156592088 rs1032432013	155	F>L		No	ClinGen TOPMed gnomAD
CA4204379 rs147318339	165	K>E		No	ClinGen ESP ExAC gnomAD
rs1239798095 CA367249087	166	F>L		No	ClinGen TOPMed
CA4204380 rs756452477	167	V>I		No	ClinGen ExAC gnomAD
CA367249133 rs1345556040	173	D>G		No	ClinGen gnomAD
CA156596520 rs868553154	174	L>S		No	ClinGen Ensembl
CA367249169 rs1363725715	178	M>I		No	ClinGen gnomAD
CA4204381 rs140727226	178	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs979815730 CA156596521	178	M>V		No	ClinGen Ensembl
rs1424332478 CA367249215	184	R>*		No	ClinGen gnomAD
CA4204383 rs142290977	184	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1350517194 CA367249245	186	T>I		No	ClinGen gnomAD
CA367245090 rs1435544394	189	E>A		No	ClinGen gnomAD
TCGA novel	191	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA156600130 rs749781284	191	V>I		No	ClinGen Ensembl
TCGA novel	194	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs550905339 CA4204402	195	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758403495 CA4204403	199	C>Y		No	ClinGen ExAC gnomAD
rs1470187292 CA367245163	200	A>T		No	ClinGen gnomAD
rs751775912 CA4204405	202	C>W		No	ClinGen ExAC gnomAD
CA156600132 rs866147007	204	E>D		No	ClinGen Ensembl
rs745627656 CA4204408	208	Q>E		No	ClinGen ExAC gnomAD
rs181107014 CA367245224	208	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1331015548 CA367245222	208	Q>R		No	ClinGen gnomAD
rs779838395 CA4204410	210	D>Y		No	ClinGen ExAC gnomAD
CA367245251 rs1282002657	212	I>L		No	ClinGen gnomAD
rs748891643 CA4204411	213	A>V		No	ClinGen ExAC gnomAD
CA4204412 rs767981100	214	R>*		No	ClinGen ExAC gnomAD
CA4204414 rs761417571	220	I>M		No	ClinGen ExAC gnomAD
CA367245315 rs1291550203	220	I>V		No	ClinGen gnomAD
CA367245351 rs1583596949	222	H>L		No	ClinGen Ensembl
CA367245346 rs1490147486	222	H>Y		No	ClinGen gnomAD
CA367246341 rs1391067439	227	D>G		No	ClinGen gnomAD
CA156600938 rs868322083	234	R>K		No	ClinGen gnomAD
CA367246394 rs868322083	234	R>T		No	ClinGen gnomAD
rs747638902 CA156600940	238	E>D		No	ClinGen ExAC TOPMed gnomAD
CA4204434 rs771774085	242	D>V		No	ClinGen ExAC

No associated diseases with Q8NHG8

1 regional properties for Q8NHG8

Type	Name	Position	InterPro Accession
domain	Zinc finger, RING-type	198 - 239	IPR001841

Functions

		Description
EC Number	2.3.2.27	Aminoacyltransferases
Subcellular Localization	Endosome membrane ; Peripheral membrane protein Lysosome membrane ; Peripheral membrane protein Presynaptic cell membrane ; Peripheral membrane protein Cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

14 GO annotations of cellular component

Name	Definition
anchoring junction	A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
cell projection	A prolongation or process extending from a cell, e.g. a flagellum or axon.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoplasmic vesicle membrane	The lipid bilayer surrounding a cytoplasmic vesicle.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endosome membrane	The lipid bilayer surrounding an endosome.
fibrillar center	A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
lysosomal membrane	The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
presynaptic membrane	A specialized area of membrane of the axon terminal that faces the plasma membrane of the neuron or muscle fiber with which the axon terminal establishes a synaptic junction; many synaptic junctions exhibit structural presynaptic characteristics, such as conical, electron-dense internal protrusions, that distinguish it from the remainder of the axon plasma membrane.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.

2 GO annotations of molecular function

Name	Definition
metal ion binding	Binding to a metal ion.
ubiquitin protein ligase activity	Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond: an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate or, in the linear extension of ubiquitin chains, a peptide bond the between the C-terminal glycine and N-terminal methionine of ubiquitin residues.

2 GO annotations of biological process

Name	Definition
proteasome-mediated ubiquitin-dependent protein catabolic process	The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome.
protein K48-linked ubiquitination	A protein ubiquitination process in which a polymer of ubiquitin, formed by linkages between lysine residues at position 48 of the ubiquitin monomers, is added to a protein. K48-linked ubiquitination targets the substrate protein for degradation.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q71FD5	Znrf2	E3 ubiquitin-protein ligase ZNRF2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MGAKQSGPAA	ANGRTRAYSG	SDLPSSSSGG	ANGTAGGGGG	ARAAAAGRFP	AQVPSAHQPS
70	80	90	100	110	120
ASGGAAAAAA	APAAPAAPRS	RSLGGAVGSV	ASGARAAQSP	FSIPNSSSGP	YGSQDSVHSS
130	140	150	160	170	180
PEDGGGGRDR	PVGGSPGGPR	LVIGSLPAHL	SPHMFGGFKC	PVCSKFVSSD	EMDLHLVMCL
190	200	210	220	230	240
TKPRITYNED	VLSKDAGECA	ICLEELQQGD	TIARLPCLCI	YHKGCIDEWF	EVNRSCPEHP

SD