AiPD: Autoinhibited Protein Database

Q8NHH9

Gene name	ATL2 (ARL6IP2)
Protein name	Atlastin-2
Names	ADP-ribosylation factor-like protein 6-interacting protein 2, ARL-6-interacting protein 2, Aip-2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:64225
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-74 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-74 (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 Q8NHH9

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8NHH9-F1	Predicted				AlphaFoldDB

476 variants for Q8NHH9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA346339834 rs1450858786	2	A>V		No	ClinGen gnomAD
CA346339828 rs1210308066	3	E>A		No	ClinGen gnomAD
TCGA novel	3	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771954442 CA1620833	4	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1327031975 CA346339823	4	G>R		No	ClinGen gnomAD
rs771011648 CA346339812	5	D>E		No	ClinGen ExAC TOPMed gnomAD
CA1620831 rs774375962	5	D>N		No	ClinGen ExAC gnomAD
rs778033552 CA1620829	6	E>*		No	ClinGen ExAC TOPMed gnomAD
CA45575001 rs987403242	6	E>D		No	ClinGen TOPMed
rs756486071 CA1620827	6	E>G		No	ClinGen ExAC gnomAD
CA1620828 rs778033552	6	E>K		No	ClinGen ExAC TOPMed gnomAD
rs748506445 CA1620826	7	A>E		No	ClinGen ExAC TOPMed gnomAD
CA346339807 rs1323006980	7	A>P		No	ClinGen gnomAD
rs1323006980 CA346339806	7	A>T		No	ClinGen gnomAD
rs748506445 CA346339803	7	A>V		No	ClinGen ExAC TOPMed gnomAD
rs141584386 CA1620825	8	A>P		No	ClinGen ESP ExAC gnomAD
CA1620824 rs755395855	8	A>V		No	ClinGen ExAC gnomAD
CA45574998 rs375448345	9	R>G		No	ClinGen gnomAD
CA346339795 rs1172261153	9	R>L		No	ClinGen gnomAD
CA1620822 rs778512976	10	G>E		No	ClinGen ExAC TOPMed gnomAD
rs752131280 CA1620823	10	G>R		No	ClinGen ExAC gnomAD
rs1288688398 CA346339789	11	Q>E		No	ClinGen TOPMed
rs1288688398 CA346339790	11	Q>K		No	ClinGen TOPMed
CA346339786 rs1463330747	11	Q>R		No	ClinGen gnomAD
CA346339781 rs1210719691	12	Q>E		No	ClinGen gnomAD
rs753539116 CA1620820	12	Q>P		No	ClinGen ExAC gnomAD
CA45574955 rs146273204	13	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs752477183 CA1620817	13	P>L		No	ClinGen ExAC TOPMed gnomAD
rs146273204 CA1620818	13	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA346339771 rs1233971318	14	H>D		No	ClinGen TOPMed
rs774275885 CA1620814	14	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs770993377 CA1620813	15	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs201541581 CA1620811	16	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA45574904 rs201541581	16	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1620812 CA346339758 rs763076053	16	G>R		No	ClinGen ExAC TOPMed gnomAD
CA1620810 rs201541581	16	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA346339756 rs1357883363	17	L>M		No	ClinGen gnomAD
rs1410534089 CA346339747	18	W>*		No	ClinGen gnomAD
rs3731847 CA1620808 CA1620809 VAR_032265	18	W>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD UniProt dbSNP
CA346339749 rs1331955382	18	W>S		No	ClinGen TOPMed
CA1620807 rs769082125	19	R>C		No	ClinGen ExAC gnomAD
CA45574889 rs769082125	19	R>G		No	ClinGen ExAC gnomAD
CA1620804 rs756816761	20	R>L		No	ClinGen ExAC gnomAD
rs756816761 CA346339739	20	R>Q		No	ClinGen ExAC gnomAD
rs369253959 CA1620805	20	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1620802 rs574246150	21	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199698948 CA1620800	22	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1620801 rs555966541	22	R>W		No	ClinGen 1000Genomes ExAC gnomAD
CA1620799 rs767150388	24	S>N		No	ClinGen ExAC TOPMed gnomAD
CA45574838 rs751483731	25	D>H		No	ClinGen ExAC TOPMed gnomAD
CA346339717 rs751483731	25	D>N		No	ClinGen ExAC TOPMed gnomAD
CA1620797 rs751483731	25	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA1620795 rs762985967	26	P>L		No	ClinGen ExAC TOPMed gnomAD
CA346339708 rs762985967	26	P>R		No	ClinGen ExAC TOPMed gnomAD
rs766351388 CA1620796	26	P>T		No	ClinGen ExAC gnomAD
CA1620794 rs773123953	27	S>G		No	ClinGen ExAC TOPMed gnomAD
CA346339705 rs1302715238	27	S>N		No	ClinGen gnomAD
rs761879186 COSM721035 CA1620792	27	S>R	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA346339700 rs1372477177	28	A>P		No	ClinGen TOPMed gnomAD
CA1620791 rs776920297	29	A>T		No	ClinGen ExAC gnomAD
rs1421847327 CA346339686	30	V>A		No	ClinGen TOPMed
CA346339684 rs1573616848	31	N>H		No	ClinGen Ensembl
rs576157865 CA1620788	32	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA346339675 rs1429375168	32	H>Y		No	ClinGen gnomAD
CA346339669 rs960695011	33	V>I		No	ClinGen gnomAD
rs960695011 CA45574787	33	V>L		No	ClinGen gnomAD
CA346339661 rs1411611703	34	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs746420266 CA1620786	37	T>I		No	ClinGen ExAC gnomAD
CA346339638 rs557853307	38	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1620785 rs557853307	38	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1333453728 CA346339640	38	S>P		No	ClinGen TOPMed
CA45574778 rs557853307	38	S>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1620783 rs747751291	39	L>V		No	ClinGen ExAC TOPMed gnomAD
CA1620782 rs780954466	40	G>S		No	ClinGen ExAC gnomAD
rs1298214289 CA346334490	41	E>A		No	ClinGen TOPMed
rs377102396 CA1620695	41	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	44	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA45542834 rs933335469	45	D>N		No	ClinGen TOPMed
CA346334460 rs1312350153	45	D>V		No	ClinGen TOPMed
CA346334450 rs1451886947	46	D>E		No	ClinGen gnomAD
rs1558432971 CA346334455	46	D>H		No	ClinGen Ensembl
rs1211265885 CA346334451	46	D>V		No	ClinGen TOPMed
CA1620693 rs773250506	47	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1208239376 CA346334444	47	D>G		No	ClinGen Ensembl
rs143971914 CA1620691	50	N>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1620690 rs781271917	50	N>S		No	ClinGen ExAC gnomAD
CA346334417 rs1347359864	52	D>H		No	ClinGen gnomAD
rs1249188745 CA346334404	53	E>D		No	ClinGen TOPMed
rs755013637 CA1620689	54	V>F		No	ClinGen ExAC gnomAD
rs1228779424 CA346334380	57	K>Q		No	ClinGen TOPMed gnomAD
rs1328142099 CA346334377	57	K>T		No	ClinGen TOPMed gnomAD
rs907456252 CA45542801	58	P>S		No	ClinGen TOPMed gnomAD
rs907456252 CA45542808	58	P>T		No	ClinGen TOPMed gnomAD
CA346334368 rs1381227225	59	C>R		No	ClinGen gnomAD
rs747248461 CA1620688	60	P>A		No	ClinGen ExAC TOPMed gnomAD
CA346334355 rs1238722654	61	V>I		No	ClinGen TOPMed gnomAD
CA346334354 rs1238722654	61	V>L		No	ClinGen TOPMed gnomAD
CA346334348 rs1456479122	62	Q>E		No	ClinGen TOPMed
rs1432512142 CA346334343	62	Q>H		No	ClinGen gnomAD
rs1558432810 CA346334345	62	Q>R		No	ClinGen Ensembl
CA346334322 rs1321213436	66	A>T		No	ClinGen TOPMed
rs780195844 CA1620685	67	H>Y		No	ClinGen ExAC gnomAD
rs769509503 CA45542789	71	H>R		No	ClinGen TOPMed
CA1620684 rs758742745	73	F>S		No	ClinGen ExAC gnomAD
CA1620682 rs765624955	76	D>N		No	ClinGen ExAC
CA45542756 rs948879463	76	D>V		No	ClinGen TOPMed gnomAD
CA346334240 rs1367898481	77	E>A		No	ClinGen TOPMed
CA1620680 rs754315731	78	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1327612051 CA346334228	79	A>T		No	ClinGen TOPMed
rs1485468850 CA346334223	79	A>V		No	ClinGen gnomAD
rs759037747 CA1620678	82	Q>H		No	ClinGen ExAC gnomAD
rs766986416 CA1620679	82	Q>P		No	ClinGen ExAC gnomAD
CA1620676 rs765985582	84	L>F		No	ClinGen ExAC gnomAD
rs773091165 CA1620674	86	Q>H		No	ClinGen ExAC gnomAD
rs762725068 CA1620675	86	Q>L		No	ClinGen ExAC
rs1488251472 CA346334140	88	H>N		No	ClinGen gnomAD
rs748028201 CA1620672	89	I>M		No	ClinGen ExAC gnomAD
rs769724488 CA1620673	89	I>T		No	ClinGen ExAC gnomAD
CA45542681 rs909377489	89	I>V		No	ClinGen TOPMed
rs1308258873 CA346334128	90	R>G		No	ClinGen gnomAD
rs776495254 CA1620671	91	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA1620669 rs565151165	94	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747804696 CA1620668	96	V>L		No	ClinGen ExAC TOPMed gnomAD
CA346334059 rs747804696	96	V>M		No	ClinGen ExAC TOPMed gnomAD
rs538234465 CA1620665 CA1620666	97	V>L		No	ClinGen ExAC TOPMed gnomAD
CA1620662 rs764569825	104	R>C		No	ClinGen ExAC gnomAD
rs1248189669 CA346333967	104	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	106	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766009082 CA1620659	113	F>Y		No	ClinGen ExAC gnomAD
CA768465533 rs1159547837	117	Y>*		No	ClinGen TOPMed
CA346333776 rs1354932018	118	M>V		No	ClinGen gnomAD
CA346333749 rs1414091264	119	Y>C		No	ClinGen TOPMed
rs753260503 CA1620643	122	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1345596267 CA346335039	123	S>F		No	ClinGen TOPMed gnomAD
rs779638560 CA1620642	123	S>P		No	ClinGen ExAC gnomAD
CA346335025 rs1311581050	125	S>I		No	ClinGen TOPMed
rs201818773 CA1620641	125	S>R		No	ClinGen 1000Genomes ExAC gnomAD
CA346335023 rs1340666137	126	W>G		No	ClinGen TOPMed
CA346334989 rs1454588826	130	N>K		No	ClinGen gnomAD
CA346334986 rs1246007930	131	N>D		No	ClinGen TOPMed
CA1620640 rs370500111	131	N>S		No	ClinGen ESP ExAC gnomAD
CA1620638 rs761635359	133	P>A		No	ClinGen ExAC TOPMed gnomAD
CA346334959 rs1242569813	135	T>A		No	ClinGen gnomAD
CA1620637 rs753539859	135	T>R		No	ClinGen ExAC gnomAD
CA45587573 rs367944951	138	T>A		No	ClinGen ESP TOPMed gnomAD
rs760475368 CA1620635	140	R>Q		No	ClinGen ExAC gnomAD
TCGA novel	144	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346334887 rs1349540213	146	E>Q		No	ClinGen gnomAD
CA1620634 rs775414616	148	T>A		No	ClinGen ExAC TOPMed gnomAD
rs533547938 CA45587520	150	I>M		No	ClinGen Ensembl
TCGA novel	153	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA45587519 rs936040601	154	N>S		No	ClinGen TOPMed
rs772135829 CA1620633	156	V>I		No	ClinGen ExAC TOPMed gnomAD
rs772135829 CA45587518	156	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1272426852 CA346334801	159	I>L		No	ClinGen gnomAD
CA1620631 rs774536855	159	I>T		No	ClinGen ExAC gnomAD
rs374368136 CA1620630	161	R>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1620629 rs749545280	162	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1436855717 CA346334758	165	T>N		No	ClinGen gnomAD
rs1260378744 CA346334761	165	T>P		No	ClinGen gnomAD
rs61758716 CA346334754	166	K>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1620628 rs61758716	166	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA346334734 rs1234996267	167	V>L		No	ClinGen gnomAD
CA45587097 rs927219475	169	V>A		No	ClinGen Ensembl
CA45587102 rs959908434	169	V>M		No	ClinGen TOPMed gnomAD
rs747543972 CA1620605	171	L>F		No	ClinGen ExAC TOPMed gnomAD
rs747543972 CA1620606	171	L>V		No	ClinGen ExAC TOPMed gnomAD
CA346334705 rs1469726702	172	M>I		No	ClinGen TOPMed
CA45587064 rs979875651	172	M>L		No	ClinGen Ensembl
CA346334708 rs1332723024	172	M>T		No	ClinGen gnomAD
CA1620604 rs778511286	174	T>N		No	ClinGen ExAC gnomAD
CA346334687 rs1573467982	175	Q>P		No	ClinGen Ensembl
rs1237028165 CA346334642	181	Q>R		No	ClinGen TOPMed
TCGA novel	182	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346334632 rs1439985710	183	T>A		No	ClinGen TOPMed
CA1620599 rs78090073	184	I>M		No	ClinGen ExAC TOPMed gnomAD
CA1620600 rs755842865	184	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs767320644 CA1620598	186	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1292733775 CA346334602	187	C>Y		No	ClinGen gnomAD
rs1163536310 CA346334591	189	T>A		No	ClinGen gnomAD
rs1419312061 CA346334589	189	T>M		No	ClinGen TOPMed gnomAD
rs1573467815 CA346334581	190	V>G		No	ClinGen Ensembl
CA1620596 rs751502067	193	L>V		No	ClinGen ExAC gnomAD
CA45586943 rs921000552	195	T>S		No	ClinGen TOPMed gnomAD
rs1038550772 CA346334549	196	M>L		No	ClinGen TOPMed gnomAD
rs1038550772 CA45586926	196	M>V		No	ClinGen TOPMed gnomAD
CA346334534 rs1216504180	198	S>G		No	ClinGen gnomAD
CA1620595 rs766364218	199	S>A		No	ClinGen ExAC gnomAD
rs763147218 CA1620594	200	V>I		No	ClinGen ExAC gnomAD
TCGA novel	201	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775842670 CA1620569	202	V>L		No	ClinGen ExAC gnomAD
CA346333446 rs1245790431	203	Y>C		No	ClinGen TOPMed
TCGA novel	206	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346333222 rs1259778274	214	L>V		No	ClinGen gnomAD
CA1620565 rs769296037	217	L>F		No	ClinGen ExAC gnomAD
rs146848873 CA1620564	218	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1212845986 CA346333124	218	Q>L		No	ClinGen gnomAD
COSM1614835 CA1620534 COSM3709640 rs778034739	219	L>F	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
TCGA novel	220	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346332903 rs767917005	227	A>E		No	ClinGen ExAC gnomAD
CA1620531 rs767917005	227	A>V		No	ClinGen ExAC gnomAD
rs1364542990 CA346332895	228	M>I		No	ClinGen gnomAD
rs141446886 CA1620529	230	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1336369041 CA346332882	230	E>Q		No	ClinGen TOPMed
rs1038947599 CA45582252	232	Y>C		No	ClinGen TOPMed
CA346332862 rs1197957683	233	Q>E		No	ClinGen gnomAD
CA346332858 rs1246413571	233	Q>L		No	ClinGen TOPMed
rs1235410089 CA346332787	241	F>V		No	ClinGen gnomAD
CA346332767 COSM1668855 rs1301875085	244	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA1620501 rs554119759	248	Y>F		No	ClinGen 1000Genomes ExAC gnomAD
CA1620502 rs554119759	248	Y>S		No	ClinGen 1000Genomes ExAC gnomAD
rs982561383 CA45580439	265	K>E		No	ClinGen TOPMed
CA346332613 rs774242359	265	K>M		No	ClinGen ExAC gnomAD
CA1620499 rs774242359	265	K>R		No	ClinGen ExAC gnomAD
rs773248420 CA1620478	271	Q>R		No	ClinGen ExAC TOPMed gnomAD
VAR_032266 CA1620477 rs34873284	272	N>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs761831630 CA1620476	273	Q>R		No	ClinGen ExAC gnomAD
rs1182423376 CA346332502	275	E>G		No	ClinGen TOPMed
CA1620474 rs768783771	278	Q>H		No	ClinGen ExAC gnomAD
CA346332479 rs1317347789	278	Q>L		No	ClinGen gnomAD
CA1620473 rs747225826	280	V>I		No	ClinGen ExAC gnomAD
rs1300881407 CA346332456	282	K>Q		No	ClinGen gnomAD
rs772405223 CA1620471	282	K>T		No	ClinGen ExAC gnomAD
CA45577390 rs965811790	283	H>R		No	ClinGen TOPMed
rs1163147608 CA346332437	284	I>M		No	ClinGen TOPMed
CA1620469 rs373365211	285	H>D		No	ClinGen ESP ExAC gnomAD
rs373365211 CA346332435	285	H>N		No	ClinGen ESP ExAC gnomAD
rs898360630 CA45577367	286	N>S		No	ClinGen Ensembl
rs1037781965 CA45577366	289	S>L		No	ClinGen TOPMed
CA346332401 rs757660514	290	N>D		No	ClinGen ExAC TOPMed gnomAD
CA1620468 rs757660514	290	N>H		No	ClinGen ExAC TOPMed gnomAD
CA1620467 rs754386802	290	N>S		No	ClinGen ExAC gnomAD
rs1005415361 CA45577363	291	L>I		No	ClinGen gnomAD
CA1620466 rs780504335	292	G>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	293	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1620462 rs762723091	302	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs138223839 CA1620461	305	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1273897429 CA346332301	305	T>I		No	ClinGen gnomAD
rs765093782 CA1620460	307	P>R		No	ClinGen ExAC gnomAD
rs150956803 CA45577329 COSM107027	307	P>S	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs746341011 CA1620459	308	S>G		No	ClinGen ExAC TOPMed gnomAD
rs776696907 CA1620458	308	S>N		No	ClinGen ExAC TOPMed gnomAD
rs746341011 CA45577316	308	S>R		No	ClinGen ExAC TOPMed gnomAD
rs768709866 CA1620457	310	D>V		No	ClinGen ExAC gnomAD
rs775659596 CA346332259	312	R>I		No	ClinGen ExAC TOPMed gnomAD
rs775659596 CA1620455	312	R>K		No	ClinGen ExAC TOPMed gnomAD
rs770371574 CA1620427	315	D>E		No	ClinGen ExAC gnomAD
rs748678157 CA1620426	319	D>V		No	ClinGen ExAC gnomAD
CA346332175 rs1266801620	322	R>*		No	ClinGen gnomAD
rs61754249 CA1620424	322	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1261295735 CA346332170	323	E>*		No	ClinGen gnomAD
rs756972639 CA1620421	323	E>D		No	ClinGen ExAC gnomAD
CA1620420 rs763899562	325	R>*		No	ClinGen ExAC TOPMed gnomAD
CA1620419 rs763899562	325	R>G		No	ClinGen ExAC TOPMed gnomAD
CA1620418 rs375380520	325	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA1620417 rs752639682	328	V>I		No	ClinGen ExAC gnomAD
CA346332134 rs1262524019	329	P>L		No	ClinGen gnomAD
CA346332119 rs1214637021	332	L>F		No	ClinGen gnomAD
CA1620413 rs766581581	334	P>R		No	ClinGen ExAC gnomAD
rs371444918 CA1620414	334	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA346332109 rs371444918	334	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1242489896 CA346332102	335	E>G		No	ClinGen TOPMed
rs773649649 CA1620411	341	E>K		No	ClinGen ExAC gnomAD
rs1464989858 CA346332049	342	I>T		No	ClinGen gnomAD
CA346332043 rs1171304048	343	S>N		No	ClinGen TOPMed gnomAD
CA346332046 rs1377544378	343	S>R		No	ClinGen gnomAD
CA346332042 rs1171304048	343	S>T		No	ClinGen TOPMed gnomAD
TCGA novel	344	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1620410 rs200636844	345	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs200636844 CA1620409	345	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA346332029 rs200636844	345	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1193240744 CA346332028	346	K>E		No	ClinGen gnomAD
rs777332951 CA1620408	348	T>A		No	ClinGen ExAC gnomAD
rs1421450694 CA346332005	349	C>S		No	ClinGen TOPMed
CA346331990 rs1201904295	351	D>G		No	ClinGen TOPMed gnomAD
rs1263604745 CA346331992	351	D>N		No	ClinGen gnomAD
rs1482270945 CA346331986	352	L>I		No	ClinGen TOPMed gnomAD
CA346331985 rs1482270945	352	L>V		No	ClinGen TOPMed gnomAD
CA1620407 rs771459737	353	V>I		No	ClinGen ExAC gnomAD
rs749213550 CA1620385	360	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1266810902 CA346331914	360	I>V		No	ClinGen gnomAD
rs1351789814 CA346331890	363	Y>C		No	ClinGen TOPMed
TCGA novel	364	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1620383 rs748937150	364	Q>E		No	ClinGen ExAC gnomAD
rs777464211 CA1620382	364	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA1620380 rs376071199	366	E>G		No	ClinGen ESP ExAC TOPMed
CA346331874 rs1462029024	366	E>K		No	ClinGen TOPMed gnomAD
rs1393199630 CA346331859	368	L>I		No	ClinGen gnomAD
CA1620378 rs754884875	369	P>A		No	ClinGen ExAC gnomAD
CA1620377 rs754884875	369	P>S		No	ClinGen ExAC gnomAD
rs1457554716 CA346331849	370	H>N		No	ClinGen TOPMed gnomAD
CA346331842 rs1367711552	370	H>Q		No	ClinGen gnomAD
CA346331822 rs1441483379	373	S>F		No	ClinGen gnomAD
rs986051692 CA45567541	374	M>V		No	ClinGen TOPMed
rs1427160572 CA346331786	377	A>T		No	ClinGen gnomAD
rs936659341 CA45566748	379	A>G		No	ClinGen TOPMed
CA346331757 rs1329740005	381	A>G		No	ClinGen gnomAD
CA1620344 rs757498314	386	A>V		No	ClinGen ExAC gnomAD
CA346331714 rs1441928571	388	A>S		No	ClinGen gnomAD
CA346331711 rs1399740943	388	A>V		No	ClinGen gnomAD
rs530608260 CA346331696	391	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs530608260 CA1620343	391	R>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1620342 rs756496636	392	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1215365526 CA346331692	392	D>N		No	ClinGen TOPMed
TCGA novel	392	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs61734830 CA1620339	393	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1620340 rs61734830	393	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs913640313 CA45566712	397	S>N		No	ClinGen Ensembl
TCGA novel	398	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346331634 rs1558383029	399	E>D		No	ClinGen Ensembl
CA346331609 rs1451834674	401	V>L		No	ClinGen gnomAD
CA1620313 rs760398662 CA1620312	405	D>E		No	ClinGen ExAC gnomAD
CA346331581 rs1448568222	405	D>G		No	ClinGen TOPMed
rs771998613 CA1620310	407	P>A		No	ClinGen ExAC gnomAD
CA346331568 rs1399148296	407	P>R		No	ClinGen gnomAD
CA1620309 rs759544075	408	Y>C		No	ClinGen ExAC gnomAD
CA1620308 rs774491502	409	I>V		No	ClinGen ExAC TOPMed gnomAD
CA1620306 rs749371764	410	A>G		No	ClinGen ExAC gnomAD
CA1620307 rs771115333	410	A>T		No	ClinGen ExAC TOPMed gnomAD
rs777944175 CA1620305	415	E>K		No	ClinGen ExAC gnomAD
rs777944175 CA346331524	415	E>Q		No	ClinGen ExAC gnomAD
rs1240563298 CA346331516	416	R>G		No	ClinGen TOPMed gnomAD
rs569395890 CA1620304	416	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA346331503 rs1457352290	418	H>Y		No	ClinGen gnomAD
CA1620302 VAR_032267 rs7582826	420	D>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1320077597 CA346331481	421	L>F		No	ClinGen TOPMed gnomAD
rs1320077597 CA346331482	421	L>V		No	ClinGen TOPMed gnomAD
CA1620301 COSM1130787 rs755391206	425	A>V	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs752038537 CA346331429	428	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs780577030 CA45565799 COSM1408018	430	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs780577030 CA1620299 COSM1193503	430	R>G	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs758975947 CA1620298	432	V>A		No	ClinGen ExAC gnomAD
rs753237588 CA1620297	437	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1280086539 CA346331356	439	E>G		No	ClinGen TOPMed
CA346331360 rs1238211592	439	E>K		No	ClinGen TOPMed
rs976543712 CA45565778	440	F>L		No	ClinGen Ensembl
rs559121783 CA45565767	441	C>G		No	ClinGen TOPMed
TCGA novel	441	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1620294 rs752466538	442	R>C		No	ClinGen ExAC gnomAD
rs767408959 CA1620293	442	R>H		No	ClinGen ExAC TOPMed gnomAD
rs116493165 CA1620292	443	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1620290 rs142044948	443	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA1620291 rs142044948	443	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA1620289 rs147584252	444	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA346331310 rs1487661837	446	D>E		No	ClinGen gnomAD
CA1620288 rs376543656	446	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs748303608 CA1620286	447	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA1620287 rs769978665	447	Q>R		No	ClinGen ExAC gnomAD
CA346331298 rs1488482774	448	L>R		No	ClinGen gnomAD
CA1620284 rs564244279	449	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA1620285 rs564244279	449	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1558381893 CA346331273	452	I>T		No	ClinGen Ensembl
CA1620282 rs780417715	455	T>A		No	ClinGen ExAC gnomAD
rs1019033785 CA45565709	455	T>I		No	ClinGen TOPMed gnomAD
rs758774688 CA1620281	456	Y>C		No	ClinGen ExAC gnomAD
CA1620280 rs750944317	459	F>V		No	ClinGen ExAC gnomAD
CA1620279 rs777146002	460	I>K		No	ClinGen ExAC gnomAD
CA346331216 rs1362881971	461	K>Q		No	ClinGen TOPMed gnomAD
rs1296668259 CA346331207	462	H>D		No	ClinGen gnomAD
rs1453695415 CA346331196	463	N>S		No	ClinGen gnomAD
CA45565687 rs932653532	466	K>R		No	ClinGen TOPMed
CA346331168 rs1394361092	467	N>T		No	ClinGen TOPMed
CA346331157 rs1353492213	468	I>M		No	ClinGen gnomAD
rs1178409980 CA346331159	468	I>T		No	ClinGen TOPMed gnomAD
CA45565686 rs74573857	469	F>C		No	ClinGen Ensembl
rs369713955 CA1620275	470	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA45565665 rs369713955	470	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA1620276 rs767321402	470	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA346331138 rs1478886269	471	A>G		No	ClinGen gnomAD
CA346331131 rs1292448631	472	A>V		No	ClinGen TOPMed
CA346331128 rs1265077647	473	R>C		No	ClinGen gnomAD
rs1214160684 CA346331126	473	R>P		No	ClinGen gnomAD
rs766197379 CA1620273	474	T>I		No	ClinGen ExAC gnomAD
CA1620274 rs76204302	474	T>P		No	ClinGen ExAC gnomAD
rs1282047910 CA346331119	475	P>A		No	ClinGen gnomAD
TCGA novel	476	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1620271 rs114659007	477	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1620270 rs765207502	479	F>L		No	ClinGen ExAC TOPMed gnomAD
CA45565621 rs537167300	479	F>V		No	ClinGen Ensembl
rs892682542 CA45565609	480	A>T		No	ClinGen Ensembl
CA1620269 rs761991006	480	A>V		No	ClinGen ExAC TOPMed gnomAD
CA346331077 CA45565599 rs866713387	482	M>I		No	ClinGen gnomAD
rs1484315199 CA346331079	482	M>T		No	ClinGen TOPMed
CA1620267 rs768816107	482	M>V		No	ClinGen ExAC TOPMed gnomAD
CA45565598 rs908740848	483	F>L		No	ClinGen TOPMed
rs1475751452 CA346331039	487	I>M		No	ClinGen TOPMed
CA346331044 rs1171399456	487	I>V		No	ClinGen gnomAD
CA346331036 rs1421744787	488	I>T		No	ClinGen gnomAD
rs369365687 CA1620266	488	I>V		No	ClinGen ESP ExAC gnomAD
rs1052637758 CA45565563	493	G>A		No	ClinGen TOPMed gnomAD
rs775527283 CA45565553	495	I>V		No	ClinGen Ensembl
CA1620262 rs115258580	496	G>C		No	ClinGen 1000Genomes ExAC
rs114096962 CA1620261	496	G>V		No	ClinGen 1000Genomes ExAC
rs150829495 CA45565532	497	L>I		No	ClinGen ESP gnomAD
CA45565525 rs867452980	500	I>V		No	ClinGen gnomAD
CA346330954 rs1255730242	502	V>L		No	ClinGen gnomAD
rs537244506 CA1620259	503	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs754623082 CA1620258	504	C>G		No	ClinGen ExAC gnomAD
rs1312254661 CA346330936	505	N>H		No	ClinGen TOPMed
CA1620257 rs751319642	505	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1394812523 CA346330930	506	L>I		No	ClinGen gnomAD
rs1397598762 CA346330923	507	V>L		No	ClinGen TOPMed
rs1573417413 CA346330916	508	M>L		No	ClinGen Ensembl
rs1292919740 CA346330914	508	M>T		No	ClinGen TOPMed
CA1620255 rs576275911	509	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA45565503 rs376064937	509	G>R		No	ClinGen ESP TOPMed
CA1620256 rs576275911	509	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA346330903 rs1345179976	510	L>S		No	ClinGen TOPMed
rs1573417344 CA346330905	510	L>V		No	ClinGen Ensembl
rs761759624 CA1620252	512	L>M		No	ClinGen ExAC TOPMed gnomAD
rs776634028 CA1620251	513	I>M		No	ClinGen ExAC gnomAD
rs775841910 CA1620248	517	T>I		No	ClinGen ExAC gnomAD
rs760884439 CA1620249	517	T>P		No	ClinGen ExAC TOPMed gnomAD
CA346330830 rs1242450965	521	V>A		No	ClinGen gnomAD
TCGA novel	522	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs143133196 CA1620245	524	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746287300 CA1620246	524	S>T		No	ClinGen ExAC gnomAD
rs143133196 CA346330810	524	S>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA346330805 rs1392082356	525	G>E		No	ClinGen TOPMed
CA1620243 rs749831120	526	E>*		No	ClinGen ExAC gnomAD
CA45565324 rs368267331 CA346330789	527	F>L		No	ClinGen ESP TOPMed
rs754590096 CA1620241	530	I>L		No	ClinGen ExAC gnomAD
CA346330769 rs1243059780	530	I>T		No	ClinGen gnomAD
rs779794584 CA1620239	533	V>L		No	ClinGen ExAC gnomAD
rs779794584 CA346330755	533	V>M		No	ClinGen ExAC gnomAD
CA1620238 rs758016436	535	D>G		No	ClinGen ExAC gnomAD
rs750183162 CA1620237 COSM249437	536	Q>E	kidney [Cosmic]	No	ClinGen cosmic curated ExAC
CA346330731 rs1286886574	536	Q>H		No	ClinGen TOPMed
rs1467338581 CA346330733	536	Q>R		No	ClinGen TOPMed
CA346330714 rs1374804303	539	E>*		No	ClinGen gnomAD
TCGA novel	539	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1328184569 CA346330711	539	E>V		No	ClinGen gnomAD
rs778585699 CA1620236	541	L>V		No	ClinGen ExAC gnomAD
CA346330691 rs1422481540	542	W>C		No	ClinGen gnomAD
CA1620235 rs757120031	542	W>R		No	ClinGen ExAC gnomAD
CA346330690 rs1382413640	543	E>K		No	ClinGen TOPMed
rs183918100 CA45563078	545	V>I		No	ClinGen 1000Genomes
rs1479543020 CA346330356	548	P>R		No	ClinGen TOPMed gnomAD
rs781044136 CA1620167	548	P>S		No	ClinGen ExAC gnomAD
TCGA novel	550	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA45563065 rs763055120	552	N>D		No	ClinGen TOPMed
CA346330334 rs763055120	552	N>Y		No	ClinGen TOPMed
rs760807574 COSM3839499 CA1620165 CA45563054	553	L>F	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA346330321 rs1488616594	554	M>L		No	ClinGen gnomAD
CA346330322 rs1488616594	554	M>V		No	ClinGen gnomAD
rs1482756590 CA346330309	555	E>V		No	ClinGen TOPMed
CA346330294 rs1262395188	557	N>S		No	ClinGen TOPMed gnomAD
CA346330287 rs1315840410	558	I>K		No	ClinGen gnomAD
rs1213494623 CA346330289	558	I>V		No	ClinGen gnomAD
rs1244489584 CA346330281	559	R>K		No	ClinGen TOPMed
CA346330270 rs1278624874	560	Q>H		No	ClinGen gnomAD
rs1224979772 CA346330262	562	V>L		No	ClinGen gnomAD
rs1343241614 CA346330238	565	S>C		No	ClinGen gnomAD
CA346330241 rs1446951969	565	S>P		No	ClinGen TOPMed
rs1172732635 CA346330234	566	I>F		No	ClinGen TOPMed
CA346330225 rs1469515907	567	K>R		No	ClinGen TOPMed
CA346330226 rs1469515907	567	K>T		No	ClinGen TOPMed
rs1364761487 CA346330217	568	A>G		No	ClinGen gnomAD
CA346330209 rs530195551	570	L>M		No	ClinGen 1000Genomes gnomAD
CA45563035 rs530195551	570	L>V		No	ClinGen 1000Genomes gnomAD
CA346330204 rs1453627022	571	T>A		No	ClinGen gnomAD
CA346330201 rs1359820555	571	T>N		No	ClinGen TOPMed gnomAD
rs1178609528 CA346330199	572	D>N		No	ClinGen gnomAD
rs1385110308 CA346330190	573	Q>E		No	ClinGen TOPMed
rs1428858574 CA346330184	573	Q>H		No	ClinGen gnomAD
CA346330182 rs1198476770	574	V>L		No	ClinGen gnomAD
rs1263533041 CA346330167	576	H>P		No	ClinGen gnomAD
rs1273980645 CA346330153	578	A>S		No	ClinGen TOPMed gnomAD
rs569319619 CA346330139 CA1620162	580	L>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs569319619 CA346330140	580	L>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1485468437 CA346330130	581	K>N		No	ClinGen TOPMed gnomAD
CA346330124 rs1237606778	582	T>K		No	ClinGen gnomAD
CA346330115 rs1321021307	583	D>E		No	ClinGen gnomAD
CA346330122 rs1205011370	583	D>H		No	ClinGen TOPMed gnomAD
rs1205011370 CA346330120	583	D>Y		No	ClinGen TOPMed gnomAD
rs1203960969 CA768412799	584	D>W		No	ClinGen TOPMed

No associated diseases with Q8NHH9

3 regional properties for Q8NHH9

Type	Name	Position	InterPro Accession
domain	Guanylate-binding protein/Atlastin, C-terminal	344 - 464	IPR003191
domain	Guanylate-binding protein, N-terminal	70 - 340	IPR015894
domain	GB1/RHD3-type guanine nucleotide-binding (G) domain	91 - 336	IPR030386

Functions

		Description
EC Number
Subcellular Localization	Endoplasmic reticulum membrane ; Multi-pass membrane protein	Localizes at endoplasmic reticulum (ER) three-way tubular junctions (PubMed:27619977)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
endoplasmic reticulum tubular network membrane	The membrane of the endoplasmic reticulum tubular network.
integral component of membrane	The component of a 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
GTP binding	Binding to GTP, guanosine triphosphate.
GTPase activity	Catalysis of the reaction: GTP + H2O = GDP + H+ + phosphate.
identical protein binding	Binding to an identical protein or proteins.

4 GO annotations of biological process

Name	Definition
endoplasmic reticulum organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the endoplasmic reticulum.
endoplasmic reticulum tubular network membrane organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the endoplasmic reticulum (ER) tubular network membrane.
Golgi organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the Golgi apparatus.
protein homooligomerization	The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9VC57	atl	Atlastin	Drosophila melanogaster (Fruit fly)	PR
Q6ZN66	GBP6	Guanylate-binding protein 6	Homo sapiens (Human)	PR
Q6PA06	Atl2	Atlastin-2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAEGDEAARG	QQPHQGLWRR	RRTSDPSAAV	NHVSSTTSLG	ENYEDDDLVN	SDEVMKKPCP
70	80	90	100	110	120
VQIVLAHEDD	HNFELDEEAL	EQILLQEHIR	DLNIVVVSVA	GAFRKGKSFL	LDFMLRYMYN
130	140	150	160	170	180
KDSQSWIGGN	NEPLTGFTWR	GGCERETTGI	QVWNEVFVID	RPNGTKVAVL	LMDTQGAFDS
190	200	210	220	230	240
QSTIKDCATV	FALSTMTSSV	QVYNLSQNIQ	EDDLQHLQLF	TEYGRLAMEE	IYQKPFQTLM
250	260	270	280	290	300
FLIRDWSYPY	EHSYGLEGGK	QFLEKRLQVK	QNQHEELQNV	RKHIHNCFSN	LGCFLLPHPG
310	320	330	340	350	360
LKVATNPSFD	GRLKDIDEDF	KRELRNLVPL	LLAPENLVEK	EISGSKVTCR	DLVEYFKAYI
370	380	390	400	410	420
KIYQGEELPH	PKSMLQATAE	ANNLAAVAGA	RDTYCKSMEQ	VCGGDKPYIA	PSDLERKHLD
430	440	450	460	470	480
LKEVAIKQFR	SVKKMGGDEF	CRRYQDQLEA	EIEETYANFI	KHNDGKNIFY	AARTPATLFA
490	500	510	520	530	540
VMFAMYIISG	LTGFIGLNSI	AVLCNLVMGL	ALIFLCTWAY	VKYSGEFREI	GTVIDQIAET
550	560	570	580
LWEQVLKPLG	DNLMEENIRQ	SVTNSIKAGL	TDQVSHHARL	KTD