AiPD: Autoinhibited Protein Database

Q9UHG0

Gene name	DCDC2 (KIAA1154, RU2)
Protein name	Doublecortin domain-containing protein 2
Names	Protein RU2S
Species	Homo sapiens (Human)
KEGG Pathway	hsa:51473
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

197-476 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

197-476 (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 Q9UHG0

Entry ID	Method	Resolution	Chain	Position	Source
2DNF	NMR	-	A	132-226	PDB
AF-Q9UHG0-F1	Predicted				AlphaFoldDB

356 variants for Q9UHG0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
VAR_077245 RCV000477748 rs1042640142	17	K>N	Isolated neonatal sclerosing cholangitis NSC; loss of localization to the cilium axoneme [ClinVar, UniProt]	Yes	ClinVar UniProt dbSNP
RCV001088767 rs745333409 RCV000728139	23	R>L	Autosomal recessive nonsyndromic hearing loss 66 [ClinVar]	Yes	ClinVar dbSNP
RCV002515058 RCV001335811 RCV000157643 rs757704417 RCV000477717 RCV002498782	42	S>missing	Dyslexia, susceptibility to, 2 Isolated neonatal sclerosing cholangitis Autosomal recessive nonsyndromic hearing loss 66 Nephronophthisis 19 [ClinVar]	Yes	ClinVar dbSNP
rs554313786 RCV002499355 RCV000730199	51	V>L	Autosomal recessive nonsyndromic hearing loss 66 [ClinVar]	Yes	ClinVar dbSNP
RCV001175201 rs1760494153	75	R>missing	Nephronophthisis 19 [ClinVar]	Yes	ClinVar dbSNP
rs776415168 RCV002499662 RCV001335812	93	A>D	Autosomal recessive nonsyndromic hearing loss 66 [ClinVar]	Yes	ClinVar dbSNP
RCV002497367 RCV001039850 CA3654790 rs781510673	117	V>I	Autosomal recessive nonsyndromic hearing loss 66 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1056029060 CA136637338 RCV000530468 RCV000732878	119	P>S	Autosomal recessive nonsyndromic hearing loss 66 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA136637337 RCV002491217 rs904520404 RCV000595112 RCV001722542	128	S>*	Autosomal recessive nonsyndromic hearing loss 66 Nephronophthisis 19 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000593504 RCV002483664 CA3654753 RCV001868001 rs200595563	149	L>F	Autosomal recessive nonsyndromic hearing loss 66 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_050946 RCV000542960 CA3654749 RCV000991875 rs33914824 RCV000605753	152	P>A	Autosomal recessive nonsyndromic hearing loss 66 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000477740 rs904944428 RCV000593742 RCV000692639	177	I>missing	Isolated neonatal sclerosing cholangitis Autosomal recessive nonsyndromic hearing loss 66 [ClinVar]	Yes	ClinVar dbSNP
rs141060456 RCV000729338 RCV001088392 RCV002535117 CA3654733	181	S>R	Autosomal recessive nonsyndromic hearing loss 66 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000991435 rs1581640646	184	V>missing	Autosomal recessive nonsyndromic hearing loss 66 [ClinVar]	Yes	ClinVar dbSNP
CA185948 RCV000157642 RCV000477678 rs730880299	217	K>*	Isolated neonatal sclerosing cholangitis Nephronophthisis 19 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_078767	217	K>del	NSC [UniProt]	Yes	UniProt
RCV001662653 CA3654698 rs2274305 RCV001662651 RCV000614196 VAR_022890 RCV001521758 RCV001662652	221	S>G	Isolated neonatal sclerosing cholangitis Autosomal recessive nonsyndromic hearing loss 66 Nephronophthisis 19 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001338764 CA136636018 rs1043649931 RCV002486357	229	T>A	Autosomal recessive nonsyndromic hearing loss 66 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000729343 CA3654677 RCV001087029 rs144695853	239	S>A	Autosomal recessive nonsyndromic hearing loss 66 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001212427 rs948355469	243	P>R	Autosomal recessive nonsyndromic hearing loss 66 [ClinVar]	Yes	ClinVar dbSNP
RCV002477368 RCV002529785 rs909339162 RCV000626272 CA136634455	257	R>C	Autosomal recessive nonsyndromic hearing loss 66 Nephronophthisis 19 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000731135 RCV002485893 CA3654644 COSM243968 RCV002535192 RCV002535191 rs200233521	257	R>H	pancreas large_intestine prostate Autosomal recessive nonsyndromic hearing loss 66 Inborn genetic diseases [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA3654640 RCV000810568 rs200534758	262	T>I	Autosomal recessive nonsyndromic hearing loss 66 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000728636 rs146787541 RCV001731912 CA3654636 RCV002060970	273	P>S	Autosomal recessive nonsyndromic hearing loss 66 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3654633 RCV000987657 rs775868003	277	K>*	Autosomal recessive nonsyndromic hearing loss 66 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA136634449 RCV002525737 RCV002475927 rs1050411259 RCV000477711	297	L>*	Isolated neonatal sclerosing cholangitis Autosomal recessive nonsyndromic hearing loss 66 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
VAR_078768	297	L>del	NSC [UniProt]	Yes	UniProt
CA3654557 RCV001805826 rs746447569 RCV000706596	310	G>A	Autosomal recessive nonsyndromic hearing loss 66 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002498862 RCV000595444 RCV002283495 RCV001814195 rs1554144869	315	G>missing	Isolated neonatal sclerosing cholangitis Autosomal recessive nonsyndromic hearing loss 66 [ClinVar]	Yes	ClinVar dbSNP
rs77150627 RCV002499358 RCV000730800 CA3654551	322	R>P	Autosomal recessive nonsyndromic hearing loss 66 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001840948 CA3654549 RCV003163987 CA3654550 rs146587418	323	G>R	Autosomal recessive nonsyndromic hearing loss 66 Inborn genetic diseases [ClinVar]	Yes	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar dbSNP
RCV000730534 rs774115675 RCV002477701 RCV001380952	324	A>missing	Autosomal recessive nonsyndromic hearing loss 66 [ClinVar]	Yes	ClinVar dbSNP
rs1416369642 RCV001069721	324	A>S	Autosomal recessive nonsyndromic hearing loss 66 [ClinVar]	Yes	ClinVar dbSNP
RCV000732279 RCV002535263 rs753636454 CA136622223	342	R>W	Autosomal recessive nonsyndromic hearing loss 66 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs183480366 CA3654517 RCV001855668 RCV000731829 RCV002477709	356	A>T	Autosomal recessive nonsyndromic hearing loss 66 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001054694 CA363280677 rs1393437679	359	D>V	Autosomal recessive nonsyndromic hearing loss 66 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV002532682 rs757670255 RCV001868000 RCV000596391 CA3654512	367	S>L	Autosomal recessive nonsyndromic hearing loss 66 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA3654500 rs773020868 RCV000817231	385	P>L	Autosomal recessive nonsyndromic hearing loss 66 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA3654493 RCV002533085 COSM1076458 rs771591530 RCV000728198 RCV000813155	400	R>H	Variant assessed as Somatic; 0.0 impact. endometrium Autosomal recessive nonsyndromic hearing loss 66 Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs139858268 RCV000727868 RCV001706670 RCV000530128 CA3654488	403	R>H	Autosomal recessive nonsyndromic hearing loss 66 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000185587 rs794729665 RCV000157618 CA280061 VAR_074667	424	Q>P	Autosomal recessive nonsyndromic hearing loss 66 Nonsyndromic Deafness DFNB66; results in ciliary abnormalities including increased ciliary length [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV002499352 rs763350514 RCV000729754 CA3654435	455	V>A	Autosomal recessive nonsyndromic hearing loss 66 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000711409 rs9460973 RCV000615448 CA3654434 RCV001522082 VAR_050947	456	K>N	Autosomal recessive nonsyndromic hearing loss 66 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3654430 RCV000728427 RCV001862145 rs145154884	475	V>M	Autosomal recessive nonsyndromic hearing loss 66 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs772638721	25	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	25	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	39	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	89	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1561787158 RCV000729176	98	N>missing		No	ClinVar dbSNP
TCGA novel	99	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1195882175 CA363278472	102	I>M		No	ClinGen gnomAD
CA363278449 rs1487338049	106	K>E		No	ClinGen TOPMed gnomAD
TCGA novel	106	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363278441 rs1262816447	107	K>Q		No	ClinGen gnomAD
TCGA novel	108	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1355730413 CA363278423	109	P>L		No	ClinGen TOPMed gnomAD
rs772785805 CA3654824	109	P>S		No	ClinGen ExAC
rs767336029 CA136642859	110	M>L		No	ClinGen ExAC gnomAD
rs767336029 CA3654822	110	M>V		No	ClinGen ExAC gnomAD
rs1484447809 CA363278411	111	E>G		No	ClinGen gnomAD
CA3654820 rs775857205	112	V>A		No	ClinGen ExAC gnomAD
rs761447280 CA3654821	112	V>I		No	ClinGen ExAC gnomAD
rs770374944 CA3654818	114	N>H		No	ClinGen ExAC gnomAD
rs1479412408 CA363278385	115	T>I		No	ClinGen TOPMed
TCGA novel	116	E>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746210096 CA3654817	116	E>D		No	ClinGen ExAC gnomAD
rs771269411 CA3654789	119	P>L		No	ClinGen ExAC gnomAD
rs1286510688 CA363281325	121	I>M		No	ClinGen TOPMed
rs761093126 CA3654788	122	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1245224982 CA363281312	123	S>N		No	ClinGen TOPMed
CA363281288 rs1382576882	126	N>K		No	ClinGen TOPMed gnomAD
CA363281284 rs1439438193	127	V>A		No	ClinGen gnomAD
rs1157188557 CA363281286	127	V>L		No	ClinGen gnomAD
COSM1076460 rs1157188557 CA363281287	127	V>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA363281277 rs904520404	128	S>L		No	ClinGen TOPMed gnomAD
CA3654785 rs748123884	130	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1449383806 CA363281268	130	R>H		No	ClinGen gnomAD
CA136637336 rs1043146569	132	R>T		No	ClinGen TOPMed gnomAD
rs1265987531 CA363281247	133	K>T		No	ClinGen gnomAD
CA3654784 rs779076957	134	P>L		No	ClinGen ExAC TOPMed gnomAD
rs913769748 CA136637335	135	L>P		No	ClinGen Ensembl
rs1322527238 CA363281212	138	P>Q		No	ClinGen TOPMed
rs755971522 CA3654780	139	C>G		No	ClinGen ExAC
rs1406269528 CA363281202	140	T>A		No	ClinGen TOPMed
CA3654779 rs750273394	141	I>L		No	ClinGen ExAC gnomAD
CA3654778 rs201158565	141	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA363281159 rs1447042577	144	I>T		No	ClinGen TOPMed
rs1445603811 CA363281138	147	G>A		No	ClinGen gnomAD
CA136637327 rs773615720	148	D>E		No	ClinGen ExAC gnomAD
rs767941715 CA3654752	149	L>P		No	ClinGen ExAC gnomAD
CA363281124 rs1258695916	150	I>V		No	ClinGen gnomAD
TCGA novel	151	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762390922 CA3654747	154	S>C		No	ClinGen ExAC TOPMed gnomAD
CA3654746 rs368811969	155	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3654745 rs146953663	155	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1198035065 CA363281087	156	L>H		No	ClinGen TOPMed
rs1442150039 CA363281081	157	L>H		No	ClinGen TOPMed
rs201204772 CA363281065	160	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	160	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363281058 rs1397525594	161	K>Q		No	ClinGen gnomAD
CA363281047 rs1157030767	162	T>N		No	ClinGen TOPMed gnomAD
rs1041106151 CA136637326	164	N>S		No	ClinGen Ensembl
CA363281029 rs1581640701	165	Q>E		No	ClinGen Ensembl
rs777378768 CA3654740	166	W>*		No	ClinGen ExAC gnomAD
CA3654739 rs758066502	168	H>Y		No	ClinGen ExAC gnomAD
rs1002032199 CA136637325	169	V>I		No	ClinGen TOPMed
rs1456354693 CA363280961	174	T>I		No	ClinGen gnomAD
rs756523481 CA3654736	177	I>L		No	ClinGen ExAC gnomAD
rs904944428	177	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750932143 CA363280929	179	L>P		No	ClinGen ExAC gnomAD
CA3654735 rs750932143	179	L>R		No	ClinGen ExAC gnomAD
CA363280923 rs1384792110	180	R>S		No	ClinGen TOPMed
CA3654732 rs752020799	182	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3654731 rs561849262	186	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs748032288 CA136636026 RCV000729752 CA3654715	186	R>S		No	ClinGen ExAC TOPMed gnomAD ClinVar dbSNP
rs962012070 CA136636025	190	L>F		No	ClinGen Ensembl
CA3654713 rs751932909	190	L>S		No	ClinGen ExAC TOPMed gnomAD
CA3654712 rs778288438	192	G>A		No	ClinGen ExAC
rs758636801 CA363280720	194	L>F		No	ClinGen ExAC TOPMed gnomAD
rs758636801 CA3654711	194	L>V		No	ClinGen ExAC TOPMed gnomAD
CA136636024 rs1015049005	195	V>A		No	ClinGen gnomAD
rs752961258 CA3654710	196	E>D		No	ClinGen ExAC gnomAD
TCGA novel	196	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3654709 rs765415280	197	S>G		No	ClinGen ExAC gnomAD
rs960117604 CA136636022	199	A>G		No	ClinGen Ensembl
rs1219067435 CA363280659	199	A>T		No	ClinGen gnomAD
rs1260445882 CA363280625	201	L>M		No	ClinGen gnomAD
rs1211478955 CA363280605	202	E>*		No	ClinGen TOPMed gnomAD
CA363280603 rs1436136924	202	E>A		No	ClinGen TOPMed
rs1211478955 CA363280608	202	E>Q		No	ClinGen TOPMed gnomAD
rs980124028 CA136636020	208	V>A		No	ClinGen TOPMed gnomAD
rs980124028 CA363280502	208	V>E		No	ClinGen TOPMed gnomAD
rs927277705 CA136636021	208	V>M		No	ClinGen TOPMed
rs760608642 CA3654705	209	A>T		No	ClinGen ExAC gnomAD
CA3654704 rs772930898	210	V>A		No	ClinGen ExAC
rs1279709672 CA363280481	210	V>I		No	ClinGen gnomAD
CA363280458 rs1471269004	212	R>G		No	ClinGen Ensembl
rs534673716 CA3654702	213	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA3654701 rs773965859	216	K>E		No	ClinGen ExAC gnomAD
CA363280373 rs1357403456	217	K>I		No	ClinGen gnomAD
rs768246538 CA3654700	219	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	220	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363280337 rs2274305	221	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA363280338 rs2274305	221	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1286173349 CA363280262	226	D>G		No	ClinGen TOPMed
CA136636019 rs905132941	227	K>N		No	ClinGen Ensembl
rs374355407 CA3654697	229	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA363280160 rs1201436251	230	M>I		No	ClinGen gnomAD
rs1469681165 CA363280144	231	R>T		No	ClinGen TOPMed
rs758802517 CA3654694	232	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1203518827 CA363280098	233	P>L		No	ClinGen gnomAD
TCGA novel	235	G>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775009498 CA3654679	237	K>T		No	ClinGen ExAC gnomAD
CA3654674 rs148995850	242	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs948355469 CA136635751	243	P>L		No	ClinGen Ensembl
rs867029190 CA136635750	244	I>V		No	ClinGen Ensembl
rs1164066571 CA363279291	245	V>A		No	ClinGen gnomAD
CA136635749 rs755168053	246	G>E		No	ClinGen ExAC TOPMed gnomAD
rs755168053 CA3654671	246	G>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	247	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749455459 CA3654670	247	S>P		No	ClinGen ExAC gnomAD
CA136635748 rs749455459	247	S>T		No	ClinGen ExAC gnomAD
CA3654669 rs780392836	248	R>G		No	ClinGen ExAC TOPMed gnomAD
rs756157936 CA3654668	249	K>R		No	ClinGen ExAC gnomAD
CA363279205 rs1190155886	252	G>E		No	ClinGen TOPMed
rs956746609 CA136635747	253	S>C		No	ClinGen TOPMed
rs935723505 CA136635746	253	S>N		No	ClinGen Ensembl
CA136634456 rs866647738	254	G>E		No	ClinGen Ensembl
CA363278364 rs1581627301	254	G>R		No	ClinGen Ensembl
rs758104505 CA3654645	255	N>Y		No	ClinGen ExAC gnomAD
CA363278341 rs200233521	257	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs764943045 CA3654643	258	H>R		No	ClinGen ExAC gnomAD
rs759266278 CA3654642 COSM385495	259	S>C	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA136634454 rs978693306	260	K>N		No	ClinGen TOPMed
CA363278296 rs1427920295	261	S>P		No	ClinGen gnomAD
CA3654639 rs765972041	263	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1239977683 CA363278275	263	V>F		No	ClinGen gnomAD
rs1438044739 CA363278222	268	N>D		No	ClinGen TOPMed
CA136634453 rs928681863	268	N>S		No	ClinGen gnomAD
CA363278218 rs928681863	268	N>T		No	ClinGen gnomAD
CA3654638 rs370613808	269	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA136634451 rs960125951	271	P>S		No	ClinGen TOPMed
rs1416618103 CA363278166	273	P>L		No	ClinGen TOPMed
CA363278127 rs1430546962	276	R>K		No	ClinGen gnomAD
CA3654632 rs775868003	277	K>E		No	ClinGen ExAC TOPMed gnomAD
rs769937902 CA3654631	280	K>N		No	ClinGen ExAC gnomAD
CA136634450 rs915997747	281	E>G		No	ClinGen gnomAD
TCGA novel	282	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781453322 CA3654627	283	V>M		No	ClinGen ExAC gnomAD
CA363278041 rs1581627179	284	N>D		No	ClinGen Ensembl
rs770912162 CA3654626	285	S>L		No	ClinGen ExAC gnomAD
CA3654623 rs746503285	289	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1561755265 CA363277978 RCV000735147	290	K>R		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	290	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	294	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1181699754 CA363277932	295	V>I		No	ClinGen gnomAD
TCGA novel	298	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3654619 rs753533030	299	N>T		No	ClinGen ExAC gnomAD
CA363277869 CA3654618 rs766172465	300	S>*		No	ClinGen ExAC TOPMed gnomAD
CA363277866 rs766172465	300	S>L		No	ClinGen ExAC TOPMed gnomAD
CA3654617 rs760084731	301	Q>K		No	ClinGen ExAC gnomAD
rs749974728 CA3654616	303	T>S		No	ClinGen ExAC gnomAD
rs764471894 CA3654615	304	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	305	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel rs1581627115 CA363277797	307	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
rs756932116 CA3654558	308	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1561889419 CA363277584	310	G>S		No	ClinGen Ensembl
CA3654556 rs777276762	311	I>V		No	ClinGen ExAC gnomAD
rs757960384 CA3654555	313	K>E		No	ClinGen ExAC gnomAD
rs754360422 CA3654554	315	G>*		No	ClinGen ExAC TOPMed gnomAD
CA363277548 rs1300137568	315	G>E		No	ClinGen gnomAD
CA363277541 rs1462528643	317	E>K		No	ClinGen TOPMed
CA363277524 rs1164672241	319	S>A		No	ClinGen gnomAD
rs1384002223 CA363277509	321	T>I		No	ClinGen gnomAD
rs77150627 CA136625686	322	R>L		No	ClinGen ExAC TOPMed gnomAD
rs77150627 CA136625687	322	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3654552 rs756475791	322	R>W		No	ClinGen ExAC gnomAD
CA363277504 rs764260348	323	G>A		No	ClinGen ExAC gnomAD
CA3654547 rs764260348	323	G>E		No	ClinGen ExAC gnomAD
CA3654548 rs764260348	323	G>V		No	ClinGen ExAC gnomAD
rs774115675	324	A>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1416369642 CA363277501	324	A>T		No	ClinGen gnomAD
rs1174976869 CA363277494	325	A>E		No	ClinGen TOPMed
rs1180526777 CA363277495	325	A>T		No	ClinGen TOPMed gnomAD
CA363277485 rs1408902119	326	E>D		No	ClinGen TOPMed
rs1357003478 CA363277481	327	V>I		No	ClinGen gnomAD
rs762979285 CA136625685	328	Q>E		No	ClinGen Ensembl
rs1314300838 CA363277474	328	Q>R		No	ClinGen gnomAD
CA363277458 rs1288680500	330	D>G		No	ClinGen TOPMed
CA3654544 rs150003705	332	D>G		No	ClinGen ESP ExAC TOPMed
CA363277438 rs1380178018	333	T>A		No	ClinGen TOPMed
CA363277435 rs1239618857	333	T>N		No	ClinGen gnomAD
rs1472251223 CA363277425	335	V>I		No	ClinGen gnomAD
rs187789776 CA3654543	337	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA363277394 rs1389720008	340	D>N		No	ClinGen gnomAD
rs1193702130 CA363280867	342	R>K		No	ClinGen gnomAD
CA3654523 rs766600237	343	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3654522 rs535914952	346	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA363280815 rs143313706	348	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3654520 rs772827889	348	D>G		No	ClinGen ExAC
rs760502604 CA3654521	348	D>Y		No	ClinGen ExAC
TCGA novel	349	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs946583171 CA136622222	349	E>K		No	ClinGen Ensembl
rs747652700 CA3654518	352	D>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	354	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363280722 rs1225399801	355	K>N		No	ClinGen gnomAD
CA136622221 rs183480366	356	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3654516 rs770279005	357	N>I		No	ClinGen ExAC gnomAD
rs746347880 CA3654515	357	N>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	363	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363280607 rs1407438752	364	E>D		No	ClinGen gnomAD
rs1467761365 CA363280592	365	D>E		No	ClinGen gnomAD
rs1178027868 CA363280597	365	D>V		No	ClinGen gnomAD
TCGA novel	366	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363280578 rs773301531	366	F>L		No	ClinGen TOPMed
CA3654513 rs538198742	367	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752022886 RCV000596618 CA3654511	368	G>R		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs778095991 CA3654510 RCV000730119	370	N>D		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs911570078 CA136622217	370	N>K		No	ClinGen gnomAD
rs201827080 CA3654509	370	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	375	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3654507 rs752761872	378	G>C		No	ClinGen ExAC TOPMed gnomAD
CA363280439 rs1278194991	378	G>D		No	ClinGen gnomAD
rs755149513 CA3654505	379	R>G		No	ClinGen ExAC gnomAD
CA136622216 rs986382887	379	R>K		No	ClinGen gnomAD
rs1228097560 CA363280425	379	R>S		No	ClinGen gnomAD
CA3654504 rs753739433	381	A>G		No	ClinGen ExAC gnomAD
TCGA novel	382	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs180988889 CA3654502	383	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs953735295 CA136622215	384	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA3654501 rs760412461	385	P>A		No	ClinGen ExAC
rs774111540 CA3654497	389	E>G		No	ClinGen ExAC TOPMed gnomAD
rs761388263 CA3654498	389	E>K		No	ClinGen ExAC TOPMed gnomAD
rs768048150 CA3654496	390	E>D		No	ClinGen ExAC gnomAD
rs1445007538 CA363280269	391	I>T		No	ClinGen gnomAD
rs973946416 CA136622213	391	I>V		No	ClinGen Ensembl
CA363280261 rs1181609743	392	L>V		No	ClinGen gnomAD
RCV000722698 rs1561878742	394	H>missing		No	ClinVar dbSNP
rs34647318 CA136622212	394	H>P		No	ClinGen gnomAD
rs34647318 CA363280229	394	H>R		No	ClinGen gnomAD
CA363280117 rs1236928301	398	Q>R		No	ClinGen gnomAD
CA3654494 rs777259245	400	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs747339767 CA3654492	401	P>H		No	ClinGen ExAC gnomAD
rs758852015 CA3654490	402	A>P		No	ClinGen ExAC TOPMed gnomAD
CA363280068 rs758852015	402	A>T		No	ClinGen ExAC TOPMed gnomAD
rs748310193 CA3654489	402	A>V		No	ClinGen ExAC gnomAD
rs1244351893 CA363280047	403	R>C		No	ClinGen TOPMed gnomAD
CA363280042 rs139858268	403	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139858268 CA363280045	403	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA136622211 rs143521294	405	N>D		No	ClinGen ESP gnomAD
rs1384201245 CA363280020	405	N>K		No	ClinGen TOPMed
CA3654486 rs549447263	405	N>S		No	ClinGen ExAC gnomAD
RCV000731556 CA363280014 rs1561878667	406	G>E		No	ClinGen ClinVar Ensembl dbSNP
CA3654483 rs149268081	407	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA3654484 rs756047736	407	G>R		No	ClinGen ExAC gnomAD
CA3654485 rs756047736	407	G>S		No	ClinGen ExAC gnomAD
CA3654482 rs149268081	407	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1367144327 CA363279992	408	T>I		No	ClinGen TOPMed gnomAD
CA363279978 rs1369820281	409	D>E		No	ClinGen gnomAD
CA3654477 rs775174265	409	D>N		No	ClinGen ExAC TOPMed gnomAD
CA3654478 rs775174265	409	D>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	411	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363279929 rs1471197198	413	G>D		No	ClinGen TOPMed gnomAD
rs771499861 CA3654476	413	G>S		No	ClinGen ExAC TOPMed gnomAD
CA363279925 rs1471197198	413	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3654474 rs773832570	414	E>A		No	ClinGen ExAC gnomAD
rs553676240 CA136622209	415	E>K		No	ClinGen Ensembl
rs1490621486 CA363279892	416	L>P		No	ClinGen TOPMed gnomAD
CA136622208 rs551374870	417	Q>*		No	ClinGen Ensembl
CA363279884 rs1429820298	417	Q>R		No	ClinGen TOPMed
rs1294347330 CA363279879	418	Q>*		No	ClinGen gnomAD
CA3654473 rs772289717	418	Q>R		No	ClinGen ExAC gnomAD
rs748591010 CA3654472	419	V>F		No	ClinGen ExAC gnomAD
CA3654471 CA363279853 rs778953600	421	N>K		No	ClinGen ExAC TOPMed gnomAD
rs960014369 CA136622207	422	E>G		No	ClinGen Ensembl
rs1405128595 CA363279799	426	V>I		No	ClinGen gnomAD
rs375119774 CA363279773	428	D>G		No	ClinGen ESP ExAC gnomAD
TCGA novel	428	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3654467 rs375119774	428	D>V		No	ClinGen ESP ExAC gnomAD
rs1161113374 CA363279742	430	E>G		No	ClinGen gnomAD
rs781230955 CA3654465 RCV000731840	430	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
rs1161113374 CA363279744	430	E>V		No	ClinGen gnomAD
rs756984644 CA3654464	431	R>G		No	ClinGen ExAC TOPMed gnomAD
CA363279710 rs1204218013	433	S>Y		No	ClinGen Ensembl
rs1409784856 CA363279701	434	Q>*		No	ClinGen gnomAD
rs1407384110 CA363279659	437	G>D		No	ClinGen TOPMed
rs138279131 CA136622206	438	S>G		No	ClinGen ESP TOPMed
rs1480906981 CA363279650	438	S>N		No	ClinGen gnomAD
rs751396384 CA3654463	440	Q>*		No	ClinGen ExAC gnomAD
CA363279621 rs763616532	440	Q>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3654442 rs759063204	444	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1364440706 CA363278735	444	D>V		No	ClinGen gnomAD
CA3654440 rs753419903	445	V>A		No	ClinGen ExAC TOPMed gnomAD
rs767844134 CA3654439	447	P>L		No	ClinGen ExAC gnomAD
CA363278715 rs1301344173	448	Q>K		No	ClinGen gnomAD
rs903961230 CA136621790	451	P>S		No	ClinGen gnomAD
rs745504901 CA3654437	452	R>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	455	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3654433 rs770029938	457	I>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA363278641 rs1422463735	459	S>T		No	ClinGen gnomAD
CA363278635 rs1253412168	460	P>A		No	ClinGen gnomAD
CA363278637 RCV000732789 rs1253412168	460	P>S		No	ClinGen ClinVar dbSNP gnomAD
rs866532419 CA136621788	461	E>*		No	ClinGen Ensembl
rs1561877167 CA363278608 RCV000728563	464	E>K		No	ClinGen ClinVar Ensembl dbSNP
rs1199356737 CA363278597	465	N>S		No	ClinGen TOPMed gnomAD
rs745898766 CA3654432	466	N>D		No	ClinGen ExAC gnomAD
CA363278580 rs1462483590	467	Q>R		No	ClinGen TOPMed
rs1252683584 CA363278577	468	Q>K		No	ClinGen gnomAD
rs140626877 CA136621787	469	N>H		No	ClinGen ESP TOPMed gnomAD
rs1341118731 CA363278565	469	N>T		No	ClinGen TOPMed gnomAD
rs943872438 CA136621786	471	D>V		No	ClinGen gnomAD
CA363278543 rs1248021963	472	Y>C		No	ClinGen gnomAD
rs1581566502 CA363278538	473	A>T		No	ClinGen Ensembl
CA363278526 rs145154884	475	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA136621785 rs952408909	476	A>V		No	ClinGen TOPMed gnomAD
CA136621784 rs892067135	477	A>Q		No	ClinGen TOPMed

No associated diseases with Q9UHG0

3 regional properties for Q9UHG0

Type	Name	Position	InterPro Accession
domain	Cation-transporting P-type ATPase, N-terminal	21 - 93	IPR004014
ptm	P-type ATPase, phosphorylation site	337 - 343	IPR018303
domain	P-type ATPase, haloacid dehalogenase domain	317 - 645	IPR044492

Functions

		Description
EC Number
Subcellular Localization	Cell projection, cilium Cytoplasm, cytoskeleton, cilium axoneme Cell projection, kinocilium Cytoplasm, cytoskeleton	Localizes to the ciliary axoneme and to mitotic spindle fibers in a cell-cycle-dependent manner
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

10 GO annotations of cellular component

Name	Definition
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.
centriolar satellite	A small (70-100 nm) cytoplasmic granule that contains a number of centrosomal proteins; centriolar satellites traffic toward microtubule minus ends and are enriched near the centrosome.
cilium	A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
kinocilium	A nonmotile primary cilium that is found at the apical surface of auditory receptor cells. The kinocilium is surrounded by actin-based stereocilia.
microtubule	Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle.
microtubule cytoskeleton	The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins.
microtubule organizing center	An intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides.
mitotic spindle	A spindle that forms as part of mitosis. Mitotic and meiotic spindles contain distinctive complements of proteins associated with microtubules.

1 GO annotations of molecular function

Name	Definition
kinesin binding	Interacting selectively and non-covalently and stoichiometrically with kinesin, a member of a superfamily of microtubule-based motor proteins that perform force-generating tasks such as organelle transport and chromosome segregation.

9 GO annotations of biological process

Name	Definition
cellular defense response	A defense response that is mediated by cells.
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.
dendrite morphogenesis	The process in which the anatomical structures of a dendrite are generated and organized.
intracellular signal transduction	The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
neuron migration	The characteristic movement of an immature neuron from germinal zones to specific positions where they will reside as they mature.
positive regulation of smoothened signaling pathway	Any process that activates or increases the frequency, rate or extent of smoothened signaling.
regulation of cilium assembly	Any process that modulates the frequency, rate or extent of cilium assembly.
regulation of Wnt signaling pathway	Any process that modulates the frequency, rate or extent of the activity of the Wnt signal transduction pathway.
sensory perception of sound	The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9VUI3	DCX-EMAP	Echinoderm microtubule-associated protein-like CG42247	Drosophila melanogaster (Fruit fly)	PR
O15075	DCLK1	Serine/threonine-protein kinase DCLK1	Homo sapiens (Human)	EV
Q9JLM8	Dclk1	Serine/threonine-protein kinase DCLK1	Mus musculus (Mouse)	SS
Q5DU00	Dcdc2	Doublecortin domain-containing protein 2	Mus musculus (Mouse)	PR
Q95QC4	zyg-8	Serine/threonine-protein kinase zyg-8	Caenorhabditis elegans	PR

10	20	30	40	50	60
MSGSSARSSH	LSQPVVKSVL	VYRNGDPFYA	GRRVVIHEKK	VSSFEVFLKE	VTGGVQAPFG
70	80	90	100	110	120
AVRNIYTPRT	GHRIRKLDQI	QSGGNYVAGG	QEAFKKLNYL	DIGEIKKRPM	EVVNTEVKPV
130	140	150	160	170	180
IHSRINVSAR	FRKPLQEPCT	IFLIANGDLI	NPASRLLIPR	KTLNQWDHVL	QMVTEKITLR
190	200	210	220	230	240
SGAVHRLYTL	EGKLVESGAE	LENGQFYVAV	GRDKFKKLPY	SELLFDKSTM	RRPFGQKASS
250	260	270	280	290	300
LPPIVGSRKS	KGSGNDRHSK	STVGSSDNSS	PQPLKRKGKK	EDVNSEKLTK	LKQNVKLKNS
310	320	330	340	350	360
QETIPNSDEG	IFKAGAERSE	TRGAAEVQED	EDTQVEVPVD	QRPAEIVDEE	EDGEKANKDA
370	380	390	400	410	420
EQKEDFSGMN	GDLEEEGGRE	ATDAPEQVEE	ILDHSEQQAR	PARVNGGTDE	ENGEELQQVN
430	440	450	460	470
NELQLVLDKE	RKSQGAGSGQ	DEADVDPQRP	PRPEVKITSP	EENENNQQNK	DYAAVA