AiPD: Autoinhibited Protein Database

Q9BU20

Gene name	CPLANE2
Protein name	Ciliogenesis and planar polarity effector 2
Names	REM2- and Rab-like small GTPase 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:79363
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-68 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-68 (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 Q9BU20

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9BU20-F1	Predicted				AlphaFoldDB

260 variants for Q9BU20

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA18354597 rs1049751469	4	P>A		No	ClinGen TOPMed
rs1049751469 CA338650502	4	P>T		No	ClinGen TOPMed
rs1365396319 CA338650485	6	V>L		No	ClinGen TOPMed
rs1365396319 CA338650486	6	V>M		No	ClinGen TOPMed
rs947424262 CA18354596	7	P>L		No	ClinGen gnomAD
rs947424262 CA338650471	7	P>R		No	ClinGen gnomAD
rs1003620441 CA18354594	8	G>C		No	ClinGen TOPMed gnomAD
CA338650465 rs902562373	8	G>D		No	ClinGen TOPMed gnomAD
rs1003620441 CA338650468	8	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs902562373 CA18354589	8	G>V		No	ClinGen TOPMed gnomAD
rs1451304512 CA338650413	13	P>L		No	ClinGen gnomAD
CA338650415 rs1451304512	13	P>Q		No	ClinGen gnomAD
CA626644 rs142953444	16	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1330474818 CA338650380	16	H>Y		No	ClinGen gnomAD
rs1484789696 CA338650359	17	E>D		No	ClinGen TOPMed
CA338650368 rs1190287323	17	E>Q		No	ClinGen TOPMed
rs1395594992 CA338650347	18	S>R		No	ClinGen gnomAD
rs868577506 CA18354582	19	A>V		No	ClinGen Ensembl
CA18354570 rs766400721	20	E>*		No	ClinGen ExAC TOPMed gnomAD
rs766400721 CA626643	20	E>K		No	ClinGen ExAC TOPMed gnomAD
CA626642 rs756310024	21	G>D		No	ClinGen ExAC gnomAD
CA626641 rs750622592	23	E>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel rs767921302 CA626640	24	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
rs1569780744 CA338650292	24	Y>D		No	ClinGen Ensembl
rs1437606540 CA338650273	26	A>D		No	ClinGen gnomAD
rs1335875474 CA338650278	26	A>T		No	ClinGen TOPMed
rs1291086240 CA338650255	28	I>V		No	ClinGen TOPMed gnomAD
rs1357859729 CA338650241	29	L>R		No	ClinGen gnomAD
CA18354566 rs868709955	30	R>H		No	ClinGen Ensembl
CA338650216 rs1569780682	32	N>T		No	ClinGen Ensembl
rs762224231 CA626638	33	R>C		No	ClinGen ExAC TOPMed gnomAD
rs762224231 CA338650207	33	R>G		No	ClinGen ExAC TOPMed gnomAD
rs752040734 CA626637	34	R>G		No	ClinGen ExAC gnomAD
CA626636 rs764625811	34	R>L		No	ClinGen ExAC TOPMed gnomAD
CA18354562 rs752040734	34	R>W		No	ClinGen ExAC gnomAD
CA338650191 rs1260734123	35	R>P		No	ClinGen Ensembl
CA338650181 rs1569780619	36	V>G		No	ClinGen Ensembl
rs767270731 CA626634	36	V>L		No	ClinGen ExAC TOPMed gnomAD
rs142517793 CA626625	38	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA626624 rs756216694	39	L>R		No	ClinGen ExAC TOPMed gnomAD
CA18353003 rs1045896146	42	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs145675226 CA626623	42	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA338649447 rs1389243634	46	L>P		No	ClinGen TOPMed
rs202049255 COSM271136 CA626620	47	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs781318996 CA626621	47	P>S		No	ClinGen ExAC TOPMed gnomAD
CA338649423 rs1225040365	49	V>A		No	ClinGen gnomAD
rs138803019 CA626618	49	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA626617 rs138803019 COSM1317635	49	V>M	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs536483717 CA626616	50	S>C		No	ClinGen 1000Genomes ExAC gnomAD
rs765905778 CA626615	51	I>L		No	ClinGen ExAC TOPMed gnomAD
CA338649409 rs1276787213	51	I>M		No	ClinGen gnomAD
CA626614 rs771786071	51	I>T		No	ClinGen ExAC TOPMed gnomAD
CA338649408 rs1363941930 COSM1246698	52	D>N	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1157011034 CA338649372	55	S>R		No	ClinGen TOPMed
rs1037551797 CA18352961	55	S>R		No	ClinGen Ensembl
rs1220641495 CA338649341	57	K>M		No	ClinGen gnomAD
rs1318730463 CA338649332	57	K>N		No	ClinGen TOPMed gnomAD
rs772894659 CA626613	58	I>M		No	ClinGen ExAC gnomAD
rs567329599 CA626612	61	S>C		No	ClinGen 1000Genomes ExAC gnomAD
rs368208180 CA626609	62	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs368208180 CA626610	62	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA626608 rs749182013	64	S>T		No	ClinGen ExAC gnomAD
CA626606 rs769896751	65	G>D		No	ClinGen ExAC TOPMed gnomAD
rs547718416 CA626607	65	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA626604 rs781364983	66	V>A		No	ClinGen ExAC gnomAD
rs374649018 CA626605	66	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1051751058 CA18352930	67	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs747250057 CA626602	69	T>M		No	ClinGen ExAC TOPMed gnomAD
rs370908519 CA626600	70	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA626597 rs149219920	74	K>R		No	ClinGen ESP ExAC gnomAD
CA626598 rs149219920	74	K>T		No	ClinGen ESP ExAC gnomAD
CA626596 rs749859517	75	L>V		No	ClinGen ExAC gnomAD
CA338649060 rs1317695192	77	G>S		No	ClinGen Ensembl
rs1569776887 CA338649023	80	V>G		No	ClinGen Ensembl
rs1450586458 CA338649021	81	P>A		No	ClinGen gnomAD
CA338648999 rs1405542226	82	V>A		No	ClinGen gnomAD
rs1569776857 CA338648984	83	V>G		No	ClinGen Ensembl
CA626592 rs763969921	83	V>M		No	ClinGen ExAC gnomAD
rs762708193 CA626591	84	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs775467926 CA626590	85	H>Q		No	ClinGen ExAC gnomAD
rs17849687 CA18352869 VAR_031772	86	E>G		No	ClinGen UniProt Ensembl dbSNP
CA626589 rs202215328	86	E>K		No	ClinGen ExAC TOPMed gnomAD
CA338648920 rs1557558792	87	T>S		No	ClinGen Ensembl
rs776638434 CA626587 COSM3802691	89	G>S	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs747137801 CA626565	90	I>F		No	ClinGen ExAC TOPMed gnomAD
CA18352481 rs926975093	90	I>T		No	ClinGen gnomAD
rs1569776087 CA338648807	92	T>P		No	ClinGen Ensembl
rs773389435 CA626564	93	T>A		No	ClinGen ExAC gnomAD
CA338648799 rs773389435	93	T>P		No	ClinGen ExAC gnomAD
rs941769347 CA626561	94	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA18352464 rs866252608	98	P>S		No	ClinGen Ensembl
CA338648712 rs1301826860	101	L>V		No	ClinGen gnomAD
rs1569776026 CA338648704	102	Q>R		No	ClinGen Ensembl
CA18352458 rs908944409	103	A>P		No	ClinGen Ensembl
rs1404922058 CA338648691	103	A>V		No	ClinGen gnomAD
CA338648683 rs1569776007	104	S>R		No	ClinGen Ensembl
CA626560 rs748423518	104	S>T		No	ClinGen ExAC gnomAD
rs779088609 CA626559	105	S>G		No	ClinGen ExAC gnomAD
rs376416667 CA626558	106	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA626557 rs115950321	106	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200122419 CA626556	107	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA18352409 rs919008628	107	V>I		No	ClinGen TOPMed gnomAD
rs536419247 CA18352402	108	V>F		No	ClinGen ExAC TOPMed gnomAD
rs536419247 CA626554	108	V>I		No	ClinGen ExAC TOPMed gnomAD
CA626553 rs777448995	109	M>K		No	ClinGen ExAC gnomAD
rs941874378 CA338648642	109	M>L		No	ClinGen TOPMed gnomAD
rs941874378 CA18352401	109	M>V		No	ClinGen TOPMed gnomAD
CA338648631 rs1206903027	110	F>L		No	ClinGen gnomAD
rs141168630 CA626552	111	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA338648615 rs1260350602	111	R>H		No	ClinGen gnomAD
CA626551 rs752402317	114	F>L		No	ClinGen ExAC gnomAD
CA626550 rs764939463	115	W>*		No	ClinGen ExAC
rs1281827216 CA338648540	118	G>*		No	ClinGen gnomAD
rs759436560 CA626548	118	G>E		No	ClinGen ExAC gnomAD
rs1383404122 CA338648531	119	E>G		No	ClinGen gnomAD
CA626546 rs766341204	119	E>K		No	ClinGen ExAC gnomAD
CA18352347 rs773673041 COSM3740799	121	A>V	liver [Cosmic]	No	ClinGen cosmic curated Ensembl
rs760633192 CA626545	124	K>Q		No	ClinGen ExAC gnomAD
CA338648452 rs1407874851	126	D>E		No	ClinGen gnomAD
rs761874778 CA626543	126	D>N		No	ClinGen ExAC TOPMed gnomAD
CA626542 rs761874778	126	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1404994647 CA338648426	128	M>I		No	ClinGen TOPMed
rs746374981 CA626517	131	A>V		No	ClinGen ExAC gnomAD
rs200973333 CA18352003	132	C>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA626516 rs200973333	132	C>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA626515 rs542142896	133	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA338648346 rs1485996864	133	M>V		No	ClinGen TOPMed
rs747730146 CA626514	135	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA626513 rs376490389	136	T>I		No	ClinGen ESP ExAC gnomAD
rs372882841 CA626511	138	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs754573027 CA626512	138	A>T		No	ClinGen ExAC TOPMed gnomAD
rs372882841 CA338648286	138	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs139279526 CA626510	140	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA338648270 rs1369814139	140	L>P		No	ClinGen gnomAD
CA626509 rs369510689	141	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA626508 rs750314535	144	S>A		No	ClinGen ExAC TOPMed
rs767538456 CA626507	144	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs750314535 CA338648237	144	S>P		No	ClinGen ExAC TOPMed
rs375956373 CA626506	148	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA338648193 rs375956373	148	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs751609370 CA626505	148	R>H		No	ClinGen ExAC TOPMed gnomAD
CA338648194 rs375956373	148	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1470607617 CA338648180	149	A>V		No	ClinGen TOPMed gnomAD
rs1569775310 CA338648141	153	D>A		No	ClinGen Ensembl
rs1482940166 CA338648133	154	L>I		No	ClinGen TOPMed gnomAD
rs1270215233 CA338648129	154	L>R		No	ClinGen gnomAD
rs1171564864 CA338648106	157	Q>E		No	ClinGen TOPMed
rs760031358 CA626499	160	R>C		No	ClinGen ExAC TOPMed gnomAD
rs760031358 CA626500	160	R>G		No	ClinGen ExAC TOPMed gnomAD
rs142028968 CA626498 COSM83876	160	R>H	lung pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
VAR_079173	161	I>L		No	UniProt
rs1280928963 CA338648064	161	I>M		No	ClinGen gnomAD
CA626497 rs771425497	163	G>S		No	ClinGen ExAC
CA626496 rs149140682	163	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1269013003 CA338648017	166	P>L		No	ClinGen TOPMed
CA626495 rs773850912	166	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs949219760 CA18351911	167	G>D		No	ClinGen TOPMed gnomAD
rs1224565400 CA338648015	167	G>R		No	ClinGen TOPMed
rs1406752292 CA338648007	168	V>I		No	ClinGen TOPMed gnomAD
rs148173357 CA626494	169	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1418876777 CA338647972	171	M>I		No	ClinGen gnomAD
CA626493 rs762123455	171	M>L		No	ClinGen ExAC TOPMed
rs779738771 CA626492	171	M>T		No	ClinGen ExAC gnomAD
CA338647978 rs762123455	171	M>V		No	ClinGen ExAC TOPMed
CA626491 rs573262072	172	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs745637276 CA626490	173	I>N		No	ClinGen ExAC TOPMed gnomAD
rs762485088 CA18351889	173	I>V		No	ClinGen Ensembl
rs1157241059 CA338647929	174	G>D		No	ClinGen gnomAD
rs553404746 CA338647936	174	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs553404746 CA626488	174	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs751458178 CA626487	176	K>R		No	ClinGen ExAC gnomAD
rs751458178 CA338647903	176	K>T		No	ClinGen ExAC gnomAD
CA338647166 rs1335826829	177	F>L		No	ClinGen TOPMed
rs1310277877 CA338647140	178	D>E		No	ClinGen gnomAD
rs770699640 CA626471	178	D>N		No	ClinGen ExAC gnomAD
rs746956288 CA626470	178	D>V		No	ClinGen ExAC TOPMed gnomAD
rs777909226 CA626469	179	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs887390065 CA18351675	181	M>T		No	ClinGen TOPMed
rs796801403 CA18351679	181	M>V		No	ClinGen Ensembl
CA626467 rs752787610	182	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA626466 rs779152901 COSM297166	183	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs546637297 CA626463	184	D>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA626464 rs754009061	184	D>N		No	ClinGen ExAC gnomAD
CA626461 rs750905072 COSM3689112	185	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1043408722 CA18351664	186	P>S		No	ClinGen TOPMed
rs774923410 CA626458	187	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs774923410 CA626459	187	E>Q		No	ClinGen ExAC gnomAD
CA626456 rs201038756	188	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs571056693 CA626457	188	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776207112 CA338646907	189	D>E		No	ClinGen ExAC gnomAD
rs770740602 CA626454	190	L>F		No	ClinGen ExAC gnomAD
rs1569774572 CA338646894	190	L>P		No	ClinGen Ensembl
rs141788938 CA626453	191	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772082264 CA626451	194	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA18351630 rs1043614471 COSM3689111	194	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs146969788 CA626450	197	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA338646768 rs146969788	197	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA18351617 rs946600473	197	W>R		No	ClinGen TOPMed gnomAD
rs779066950 CA626449	198	E>*		No	ClinGen ExAC TOPMed gnomAD
rs1358510414 CA338646715	200	P>S		No	ClinGen TOPMed
TCGA novel	201	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs972334462 CA18351595	201	L>P		No	ClinGen TOPMed gnomAD
rs576683687 CA626445	203	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs531243130 CA626446	203	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756469699 CA626444	204	V>M		No	ClinGen ExAC gnomAD
CA18351583 rs909485740	206	S>N		No	ClinGen TOPMed
CA626443 rs541881333	207	V>M		No	ClinGen 1000Genomes ExAC
rs140675814 CA626441	208	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA626438 rs759019748	210	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA626439 rs764792598	210	R>W		No	ClinGen ExAC TOPMed gnomAD
rs776318544 CA626437	211	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1249511161 CA338646541	211	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA338646524 rs1490528199	213	A>S		No	ClinGen gnomAD
rs1242742955 CA338646508	214	D>G		No	ClinGen gnomAD
CA626436 rs760429966	216	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA626434 rs773080454	216	R>H		No	ClinGen ExAC gnomAD
CA626435 rs760429966	216	R>S		No	ClinGen ExAC TOPMed gnomAD
CA338646471 rs1225821766	218	L>M		No	ClinGen gnomAD
CA626430 rs201650925	220	G>A		No	ClinGen ExAC gnomAD
CA18351510 rs201650925	220	G>E		No	ClinGen ExAC gnomAD
CA626432 rs371291409 COSM3356465	220	G>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA626431 rs371291409	220	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA338646435 rs373665028	221	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs998454690 CA18351494	221	R>Q		No	ClinGen TOPMed
CA626429 rs373665028	221	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	225	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746095494 CA626426	226	D>N		No	ClinGen ExAC TOPMed gnomAD
rs143336938 CA626424	227	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1296901428 CA338646338	228	A>D		No	ClinGen Ensembl
rs1296901428 CA338646333	228	A>G		No	ClinGen Ensembl
CA626423 rs752042722	228	A>S		No	ClinGen ExAC TOPMed gnomAD
rs752042722 CA338646343	228	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1270967145 CA338646309	230	I>L		No	ClinGen gnomAD
rs371406947 CA626422	231	L>I		No	ClinGen ESP ExAC gnomAD
rs753243492 CA626421	232	N>I		No	ClinGen ExAC TOPMed gnomAD
CA626420 rs753243492	232	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1007712814 CA18351477	235	A>P		No	ClinGen Ensembl
CA626419 rs557518995	236	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA338646216 rs1476978995	237	Q>*		No	ClinGen TOPMed
rs760333794 CA626418	240	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA626416 rs368888277	243	Q>*		No	ClinGen ESP ExAC gnomAD
rs368888277 CA338646083	243	Q>E		No	ClinGen ESP ExAC gnomAD
CA338646045 rs1200243112	245	A>V		No	ClinGen TOPMed
CA338646039 rs1224538818	246	A>S		No	ClinGen gnomAD
CA626413 rs768436972	249	L>F		No	ClinGen ExAC gnomAD
rs1569774110 CA338645975	251	N>H		No	ClinGen Ensembl
CA626412 rs749270176	251	N>S		No	ClinGen ExAC TOPMed gnomAD
CA338645957 rs1438708955	252	P>A		No	ClinGen TOPMed
rs371168864 CA338645939	253	P>Q		No	ClinGen 1000Genomes TOPMed gnomAD
CA626410 rs371168864	253	P>R		No	ClinGen 1000Genomes TOPMed gnomAD
rs1402610096 CA338645941	253	P>S		No	ClinGen gnomAD
CA338645926 rs1477817917	254	E>D		No	ClinGen gnomAD
CA338645936 rs1289066461	254	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs923387634 CA338645919	255	S>C		No	ClinGen TOPMed gnomAD
rs923387634 CA18351446	255	S>G		No	ClinGen TOPMed gnomAD
CA338645912 rs1569774026	255	S>R		No	ClinGen Ensembl
CA626409 rs775366241	255	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1158059389 CA338645902	256	A>T		No	ClinGen gnomAD
rs769928556 CA626408	257	P>A		No	ClinGen ExAC gnomAD
rs746078776 CA626407	259	E>W		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q9BU20

No regional properties for Q9BU20

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9BU20

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytoskeleton, cilium basal body
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
centriole	A cellular organelle, found close to the nucleus in many eukaryotic cells, consisting of a small cylinder with microtubular walls, 300-500 nm long and 150-250 nm in diameter. It contains nine short, parallel, peripheral microtubular fibrils, each fibril consisting of one complete microtubule fused to two incomplete microtubules. Cells usually have two centrioles, lying at right angles to each other. At division, each pair of centrioles generates another pair and the twin pairs form the pole of the mitotic spindle.
ciliary basal body	A membrane-tethered, short cylindrical array of microtubules and associated proteins found at the base of a eukaryotic cilium (also called flagellum) that is similar in structure to a centriole and derives from it. The cilium basal body is the site of assembly and remodelling of the cilium and serves as a nucleation site for axoneme growth. As well as anchoring the cilium, it is thought to provide a selective gateway regulating the entry of ciliary proteins and vesicles by intraflagellar transport.
ciliary base	Area of the cilium (also called flagellum) where the basal body and the axoneme are anchored to the plasma membrane. The ciliary base encompasses the distal part of the basal body, transition fibers and transition zone and is structurally and functionally very distinct from the rest of the cilium. In this area proteins are sorted and filtered before entering the cilium, and many ciliary proteins localize specifically to this area.
ciliary transition zone	A region of the cilium between the basal body and proximal segment that is characterized by Y-shaped assemblages that connect axonemal microtubules to the ciliary membrane. The ciliary transition zone appears to function as a gate that controls ciliary membrane composition and separates the cytosol from the ciliary plasm.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

2 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.

13 GO annotations of biological process

Name	Definition
axoneme assembly	The assembly and organization of an axoneme, the bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements.
cilium assembly	The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole.
cranial skeletal system development	The process whose specific outcome is the progression of a cranial skeletal system over time, from its formation to the mature structure. The cranial skeletal system is the skeletal subdivision of the head, and includes the skull (cranium plus mandible), pharyngeal and/or hyoid apparatus.
endocardial cushion fusion	The cell-cell adhesion process of mesenchymal cardiac cushion cells that contributes to the process of cushion shaping.
exocytosis	A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell.
limb development	The process whose specific outcome is the progression of a limb over time, from its formation to the mature structure. A limb is an appendage of an animal used for locomotion or grasping. Examples include legs, arms or some types of fin.
protein localization	Any process in which a protein is transported to, or maintained in, a specific location.
protein processing	Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein.
protein transport	The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
regulation of exocytosis	Any process that modulates the frequency, rate or extent of exocytosis.
regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning	Any process that modulates the frequency, rate or extent of smoothened signaling pathway involved in dorsal/ventral neural tube patterning.
regulation of vesicle fusion	Any process that modulates the frequency, rate or extent of vesicle fusion.
smoothened signaling pathway	The series of molecular signals generated as a consequence of activation of the transmembrane protein Smoothened.

34 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P08642	HRAS	GTPase HRas	Gallus gallus (Chicken)	SS
P11233	RALA	Ras-related protein Ral-A	Homo sapiens (Human)	PR
Q6T310	RASL11A	Ras-like protein family member 11A	Homo sapiens (Human)	PR
P01116	KRAS	GTPase KRas	Homo sapiens (Human)	EV
P62070	RRAS2	Ras-related protein R-Ras2	Homo sapiens (Human)	PR
Q8IYK8	REM2	GTP-binding protein REM 2	Homo sapiens (Human)	PR
P11234	RALB	Ras-related protein Ral-B	Homo sapiens (Human)	PR
P55040	GEM	GTP-binding protein GEM	Homo sapiens (Human)	PR
Q99578	RIT2	GTP-binding protein Rit2	Homo sapiens (Human)	PR
Q6IQ22	RAB12	Ras-related protein Rab-12	Homo sapiens (Human)	PR
Q96HU8	DIRAS2	GTP-binding protein Di-Ras2	Homo sapiens (Human)	PR
P01112	HRAS	GTPase HRas	Homo sapiens (Human)	SS
Q9JIW9	Ralb	Ras-related protein Ral-B	Mus musculus (Mouse)	PR
Q61411	Hras	GTPase HRas	Mus musculus (Mouse)	SS
P32883	Kras	GTPase KRas	Mus musculus (Mouse)	SS
O08989	Mras	Ras-related protein M-Ras	Mus musculus (Mouse)	PR
Q5PR73	Diras2	GTP-binding protein Di-Ras2	Mus musculus (Mouse)	PR
Q91Z61	Diras1	GTP-binding protein Di-Ras1	Mus musculus (Mouse)	PR
P62071	Rras2	Ras-related protein R-Ras2	Mus musculus (Mouse)	PR
P35283	Rab12	Ras-related protein Rab-12	Mus musculus (Mouse)	PR
Q08AT1	Rasl12	Ras-like protein family member 12	Mus musculus (Mouse)	PR
P55041	Gem	GTP-binding protein GEM	Mus musculus (Mouse)	PR
P70425	Rit2	GTP-binding protein Rit2	Mus musculus (Mouse)	PR
Q8VEL9	Rem2	GTP-binding protein REM 2	Mus musculus (Mouse)	PR
A2A825	Cplane2	Ciliogenesis and planar polarity effector 2	Mus musculus (Mouse)	PR
P36860	Ralb	Ras-related protein Ral-B	Rattus norvegicus (Rat)	PR
P08644	Kras	GTPase KRas	Rattus norvegicus (Rat)	SS
Q9WTY2	Rem2	GTP-binding protein REM 2	Rattus norvegicus (Rat)	PR
P20171	Hras	GTPase HRas	Rattus norvegicus (Rat)	SS
Q5BJQ5	Rit2	GTP-binding protein Rit2	Rattus norvegicus (Rat)	PR
P97538	Mras	Ras-related protein M-Ras	Rattus norvegicus (Rat)	PR
B7ZTR0	cplane2	Ciliogenesis and planar polarity effector 2	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
P79737	nras	GTPase NRas	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
A1DZY4	zgc:110179	Ras-like protein family member 11A-like	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MARPPVPGSV	VVPNWHESAE	GKEYLACILR	KNRRRVFGLL	ERPVLLPPVS	IDTASYKIFV
70	80	90	100	110	120
SGKSGVGKTA	LVAKLAGLEV	PVVHHETTGI	QTTVVFWPAK	LQASSRVVMF	RFEFWDCGES
130	140	150	160	170	180
ALKKFDHMLL	ACMENTDAFL	FLFSFTDRAS	FEDLPGQLAR	IAGEAPGVVR	MVIGSKFDQY
190	200	210	220	230	240
MHTDVPERDL	TAFRQAWELP	LLRVKSVPGR	RLADGRTLDG	RAGLADVAHI	LNGLAEQLWH
250
QDQVAAGLLP	NPPESAPE