AiPD: Autoinhibited Protein Database

Q9HBU9

Gene name	POPDC2 (POP2)
Protein name	Popeye domain-containing protein 2
Names	Popeye protein 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:64091
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

247-364 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

247-364 (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 Q9HBU9

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9HBU9-F1	Predicted				AlphaFoldDB

311 variants for Q9HBU9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA354043836 rs141778533	3	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2556708 rs141778533	3	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1160018925 CA354043831	3	A>V		No	ClinGen gnomAD
CA354043815 rs1432834070	4	N>S		No	ClinGen TOPMed gnomAD
CA2556707 rs773109401	6	S>I		No	ClinGen ExAC gnomAD
CA354043776 rs773109401	6	S>N		No	ClinGen ExAC gnomAD
rs1446503370 CA354043752	8	V>A		No	ClinGen gnomAD
CA354043756 rs1480989552	8	V>M		No	ClinGen gnomAD
CA354043743 rs1560100398	9	G>D		No	ClinGen Ensembl
rs748100715 CA354043721	10	Q>H		No	ClinGen ExAC gnomAD
CA2556704 rs778297460	11	L>P		No	ClinGen ExAC TOPMed gnomAD
CA354043716 rs1227977872	11	L>V		No	ClinGen TOPMed
CA2556703 rs768141964	13	L>F		No	ClinGen ExAC gnomAD
CA2556702 rs748920995	15	G>S		No	ClinGen ExAC gnomAD
COSM3391974 COSM3391975 CA2556701 rs147587717	15	G>V	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1208180723 CA354043682	16	S>A		No	ClinGen TOPMed
rs370203320 CA354043663	17	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs370203320 CA2556700	17	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA81718270 rs757765015	19	I>L		No	ClinGen ExAC gnomAD
CA2556697 rs757765015	19	I>V		No	ClinGen ExAC gnomAD
CA2556696 rs561440468	24	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA354043542 rs1294767371	25	V>L		No	ClinGen TOPMed gnomAD
TCGA novel	28	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2556695 rs764087032	28	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	28	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354043465 rs1577175378	29	V>G		No	ClinGen Ensembl
rs4688023 VAR_053601 CA2556694	29	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA354043432 rs1577175373	31	H>P		No	ClinGen Ensembl
rs148812792 CA2556693	32	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs765595646 CA2556692	34	N>S		No	ClinGen ExAC TOPMed gnomAD
CA354043365 rs1363492024	35	C>F		No	ClinGen TOPMed
CA354043327 rs1178911294	38	L>I		No	ClinGen gnomAD
rs1434888167 CA354043306	39	L>P		No	ClinGen TOPMed
rs773197250 CA2556690	41	F>S		No	ClinGen ExAC gnomAD
CA354043281 rs1430836225	41	F>V		No	ClinGen gnomAD
CA2556688 rs761658216	44	G>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	45	S>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1577175325 CA354043146	47	V>G		No	ClinGen Ensembl
rs531381574 CA81718169	47	V>M		No	ClinGen 1000Genomes
rs774301061 CA2556687	50	C>Y		No	ClinGen ExAC gnomAD
CA354043058 rs1329865026	51	F>Y		No	ClinGen TOPMed
rs768068981 CA2556686	52	Y>C		No	ClinGen ExAC gnomAD
rs748850916 CA2556685	54	F>L		No	ClinGen ExAC gnomAD
TCGA novel	55	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779511368 CA354042954	56	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1043137910 CA81718145	57	L>P		No	ClinGen TOPMed gnomAD
CA81718146 rs1043137910	57	L>Q		No	ClinGen TOPMed gnomAD
rs932703969 CA81718141	59	A>S		No	ClinGen Ensembl
rs200490933 CA2556683	60	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs745509638 CA2556682	63	C>R		No	ClinGen ExAC gnomAD
rs1425196398 CA354042802	64	C>R		No	ClinGen TOPMed
CA2556681 rs367898955	64	C>Y		No	ClinGen ESP ExAC gnomAD
COSM3673816 CA81718106 rs200871576 COSM3673815	65	V>L	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA2556679 rs200871576	65	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2556678 rs199823321	66	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA354042680 rs1387145967	69	W>*		No	ClinGen TOPMed
CA2556676 rs752891524	69	W>*		No	ClinGen ExAC gnomAD
CA354042589 rs1457173909	73	C>R		No	ClinGen TOPMed
rs765392935 CA2556675	73	C>S		No	ClinGen ExAC gnomAD
rs759849523 CA2556674	74	G>D		No	ClinGen ExAC gnomAD
CA2556673 rs754044504	77	I>F		No	ClinGen ExAC gnomAD
rs1193826521 CA354042358	80	W>*		No	ClinGen gnomAD
rs1249506690 CA354042379	80	W>R		No	ClinGen gnomAD
CA354042337 rs1481519555 COSM3426921 COSM3426920	81	S>N	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA354042333 rs1481519555	81	S>T		No	ClinGen gnomAD
rs767244566 CA354042273	82	F>L		No	ClinGen ExAC TOPMed gnomAD
CA2556671 rs761616917	85	A>T		No	ClinGen ExAC gnomAD
rs773991244 CA2556670	86	V>G		No	ClinGen ExAC gnomAD
rs1577175241 CA354042165	87	V>G		No	ClinGen Ensembl
rs960899789 CA81718047	88	C>R		No	ClinGen TOPMed
TCGA novel	89	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2556668 rs373624225	89	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1276463028 CA354042085	90	L>H		No	ClinGen TOPMed
rs1276463028 CA354042080	90	L>P		No	ClinGen TOPMed
rs769238916 CA2556666	92	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1214907929 CA354042008	93	A>P		No	ClinGen TOPMed
rs1397744377 CA354041938	95	L>V		No	ClinGen gnomAD
CA2556664 rs776308292	96	V>I		No	ClinGen ExAC TOPMed gnomAD
CA2556665 rs776308292	96	V>L		No	ClinGen ExAC TOPMed gnomAD
rs201434582 CA2556663	98	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2556662 rs145472886	98	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	99	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759030350 CA2556660	99	L>V		No	ClinGen ExAC gnomAD
CA81718013 rs1014382991	100	R>C		No	ClinGen gnomAD
rs146525523 CA2556658	100	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs146525523 CA354041805	100	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1250972840 CA354041762	102	D>G		No	ClinGen gnomAD
CA354041746 rs1577175179	103	T>P		No	ClinGen Ensembl
rs1320464124 CA354041720	104	L>V		No	ClinGen gnomAD
rs766667906 CA2556655	105	P>L		No	ClinGen ExAC gnomAD
rs1472559537 CA354041614	108	F>S		No	ClinGen TOPMed
CA354041595 rs1577175159	109	D>A		No	ClinGen Ensembl
rs1350125164 CA354041593	109	D>E		No	ClinGen gnomAD
rs756263585 CA2556654	110	L>F		No	ClinGen ExAC TOPMed gnomAD
rs751441421 CA2556653	111	L>F		No	ClinGen ExAC gnomAD
CA2556652 rs763786249	112	Y>C		No	ClinGen ExAC gnomAD
rs775341056 CA2556650	114	T>M		No	ClinGen ExAC TOPMed gnomAD
CA2556648 rs758998185	116	C>Y		No	ClinGen ExAC gnomAD
CA354041368 rs1577175129	120	Q>E		No	ClinGen Ensembl
rs746627719 CA2556645	120	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs146321019 CA354041345	121	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs146321019 CA2556644	121	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs748694580 CA2556642	122	P>L		No	ClinGen ExAC gnomAD
rs779511386 CA2556641	125	T>S		No	ClinGen ExAC TOPMed gnomAD
CA2556640 rs776382058	127	K>E		No	ClinGen ExAC gnomAD
TCGA novel	128	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2556639 rs749422208	129	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1053149541 CA81717927	130	V>I		No	ClinGen TOPMed
CA897900111 rs1279340308	133	C>*		No	ClinGen TOPMed
CA2556637 rs756420589	134	E>K		No	ClinGen ExAC TOPMed gnomAD
rs750557138 CA2556636	135	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1248991257 CA354040931	136	Q>*		No	ClinGen TOPMed
rs1430643052 CA354040924	136	Q>R		No	ClinGen gnomAD
rs763883422 CA2556635	139	T>S		No	ClinGen ExAC gnomAD
CA2556633 rs752655918	141	A>T		No	ClinGen ExAC gnomAD
rs759439411 CA2556631	142	T>A		No	ClinGen ExAC
CA2556630 rs776261320	143	E>K		No	ClinGen ExAC gnomAD
rs1173031676 CA354040697	144	Q>H		No	ClinGen gnomAD
rs904629990 CA81717865	146	Y>C		No	ClinGen TOPMed
CA2556628 rs760378393	148	V>L		No	ClinGen ExAC gnomAD
rs1465439671 CA354040599	149	E>A		No	ClinGen gnomAD
rs1242744692 CA354040561	150	G>V		No	ClinGen gnomAD
rs1192311547 CA354040486	152	T>I		No	ClinGen TOPMed
CA2556626 rs772585480	153	P>A		No	ClinGen ExAC TOPMed gnomAD
CA354040456 rs1577175037	153	P>H		No	ClinGen Ensembl
rs772585480 CA81717856	153	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1041530269 CA81717848	154	I>N		No	ClinGen Ensembl
rs199588679 CA81717846	155	N>S		No	ClinGen TOPMed gnomAD
CA81717847 rs199588679	155	N>T		No	ClinGen TOPMed gnomAD
rs373204047 CA2556624	156	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA81717843 rs746507467	156	R>H		No	ClinGen gnomAD
CA354040384 rs746507467	156	R>L		No	ClinGen gnomAD
TCGA novel	158	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769357195 CA354040291	161	L>H		No	ClinGen ExAC TOPMed gnomAD
CA2556623 rs769357195	161	L>P		No	ClinGen ExAC TOPMed gnomAD
CA2556620 rs780198499 COSM1221557	164	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2556621 rs148709329	164	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754687676 COSM1036772 CA2556595	166	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2556594 rs190137167	166	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs190137167 CA2556593	166	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA354037370 rs190137167	166	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754687676 CA354037378	166	R>S		No	ClinGen ExAC TOPMed gnomAD
rs756043838 CA2556592	168	S>N		No	ClinGen ExAC gnomAD
CA354037107 rs532835846	175	H>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2556590 rs532835846	175	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1323058240 CA354037041	177	I>F		No	ClinGen TOPMed gnomAD
CA354037043 rs1323058240	177	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	178	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354037003 rs1312981201	179	P>A		No	ClinGen gnomAD
CA354037002 rs1312981201	179	P>S		No	ClinGen gnomAD
CA2556587 rs751193028	180	Y>C		No	ClinGen ExAC gnomAD
rs763179635 CA2556585	181	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1301284889 CA354036895	183	M>I		No	ClinGen gnomAD
rs775903396 CA2556584	183	M>V		No	ClinGen ExAC TOPMed gnomAD
rs765703870 CA2556583	184	D>E		No	ClinGen ExAC gnomAD
CA354036889 rs1288902313	184	D>V		No	ClinGen TOPMed
rs1350548038 CA354036804	186	P>L		No	ClinGen gnomAD
rs760084046 CA2556582	187	E>*		No	ClinGen ExAC gnomAD
CA354036722 COSM1221556 rs1218605032	188	W>*	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
COSM1221556 CA2556581 rs144241265	188	W>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs770930086 CA2556580	191	L>P		No	ClinGen ExAC TOPMed gnomAD
CA81715037 rs935189242	194	S>F		No	ClinGen Ensembl
rs747260528 CA2556579	194	S>P		No	ClinGen ExAC gnomAD
rs559389486 CA2556577	196	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2556576 rs749076251	196	E>V		No	ClinGen ExAC gnomAD
rs371574506 CA2556575	197	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2556573 rs745746296	198	V>M		No	ClinGen ExAC gnomAD
rs780857847 CA2556572	199	F>S		No	ClinGen ExAC TOPMed gnomAD
CA2556570 rs751282914	200	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1426156798 CA354035009	201	V>F		No	ClinGen TOPMed gnomAD
CA354035015 rs1426156798	201	V>L		No	ClinGen TOPMed gnomAD
rs1577168404 CA354034977	202	T>A		No	ClinGen Ensembl
CA81710189 rs1015266482	202	T>I		No	ClinGen TOPMed gnomAD
rs758045034 CA354034958	203	L>V		No	ClinGen ExAC TOPMed gnomAD
rs765587123 CA2556549	204	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1240933190 CA354034927	205	A>T		No	ClinGen gnomAD
CA81710157 COSM170329 rs755488775	206	E>D	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs754177891 CA2556546	207	T>I		No	ClinGen ExAC gnomAD
rs370171905 CA354034791	209	C>G		No	ClinGen TOPMed
CA81710140 rs370171905	209	C>R		No	ClinGen TOPMed
CA2556545 rs149570800	210	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA354033947 rs1488095808	210	S>R		No	ClinGen TOPMed
rs761164456 CA354033922	211	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs761164456 CA2556544	211	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA81710134 rs377607045	213	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA354033851 rs1577168358	214	W>L		No	ClinGen Ensembl
CA2556542 rs558063437	215	P>S		No	ClinGen ExAC TOPMed gnomAD
rs766894233 CA354033826	216	R>G		No	ClinGen ExAC TOPMed gnomAD
rs564285845 CA2556540	216	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs766894233 CA2556541	216	R>W		No	ClinGen ExAC TOPMed gnomAD
rs979069296 CA81710126	218	S>R		No	ClinGen Ensembl
rs769738594 CA2556539	218	S>T		No	ClinGen ExAC gnomAD
rs1560096707 CA354033766	219	L>F		No	ClinGen Ensembl
TCGA novel	219	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs138524770 CA2556537	220	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA2556536 rs771058365	220	H>Q		No	ClinGen ExAC gnomAD
rs138524770 CA2556538	220	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2556535 rs746932581	222	L>H		No	ClinGen ExAC TOPMed gnomAD
CA354033702 rs746932581	222	L>P		No	ClinGen ExAC TOPMed gnomAD
rs144452223 CA2556534	223	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs375598899 CA81710086	225	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
rs1356876353 CA354033646	225	K>N		No	ClinGen TOPMed
CA2556532 rs371366869 COSM728038	227	R>*	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA2556531 rs200414045	227	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA354033567 rs1409338834	229	I>L		No	ClinGen gnomAD
CA2556529 rs572571942	230	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA354033550 rs1577168295	230	S>P		No	ClinGen Ensembl
CA354033534 rs1177057276	231	C>R		No	ClinGen gnomAD
CA81710038 rs754250128 COSM728039	232	L>F	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs754263775 CA2556526	233	F>C		No	ClinGen ExAC gnomAD
CA354033483 rs1468927704	233	F>L		No	ClinGen gnomAD
CA354033471 rs773440080	234	S>A		No	ClinGen gnomAD
CA2556525 rs201668102	234	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA81710032 rs773440080	234	S>P		No	ClinGen gnomAD
TCGA novel	235	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1485769947 CA354033462	235	A>T		No	ClinGen gnomAD
CA81710028 rs766939505	235	A>V		No	ClinGen Ensembl
rs767528473 CA2556522	236	L>M		No	ClinGen ExAC TOPMed gnomAD
CA81710000 rs983695270	238	G>R		No	ClinGen Ensembl
rs556737888 CA2556520	242	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2556518 rs763263916	244	K>R		No	ClinGen ExAC gnomAD
rs1423451156 CA354033306	245	L>F		No	ClinGen gnomAD
TCGA novel	245	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776627668 CA2556517	245	L>P		No	ClinGen ExAC TOPMed gnomAD
CA2556516 rs770794244	246	Y>C		No	ClinGen ExAC gnomAD
CA354033281 rs1362969073	247	T>A		No	ClinGen gnomAD
CA354033278 rs1179704748	247	T>S		No	ClinGen gnomAD
CA354033252 rs1318715446	249	N>S		No	ClinGen gnomAD
rs1180356474 CA354033242	250	D>G		No	ClinGen TOPMed
rs773151169 CA2556514	250	D>N		No	ClinGen ExAC gnomAD
CA81709970 rs994877358	252	L>F		No	ClinGen Ensembl
rs1198685930 CA354033184	254	A>D		No	ClinGen gnomAD
TCGA novel	255	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2556513 rs771882680	256	F>I		No	ClinGen ExAC TOPMed gnomAD
rs771882680 CA354033161	256	F>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	257	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2556512 rs747733974	259	R>C		No	ClinGen ExAC TOPMed gnomAD
rs143200336 CA2556510	259	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2556511 rs143200336	259	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs763822776 CA2556507	263	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs139251743 CA2556504	263	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA2556505 rs139251743	263	R>L		No	ClinGen ESP TOPMed gnomAD
COSM1536312 rs1403648790 CA354033047	264	L>F	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA2556503 rs746386555	267	L>H		No	ClinGen ExAC gnomAD
rs571131554 CA2556501	270	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA2556498 rs758708568	272	G>S		No	ClinGen ExAC gnomAD
CA2556496 rs557421349 COSM479258	273	P>S	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs1477018631 CA354032910	275	A>T		No	ClinGen gnomAD
rs760564525 CA2556495	280	P>R		No	ClinGen ExAC
rs772850930 CA2556494	281	E>K		No	ClinGen ExAC gnomAD
rs767556837 CA2556493	282	S>A		No	ClinGen ExAC gnomAD
rs202169771 CA2556491	283	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1210830111 COSM3845917 COSM3845918 CA354032773	284	K>N	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
CA2556490 rs768085552	285	G>C		No	ClinGen ExAC TOPMed gnomAD
CA354032724 rs902478548	287	E>D		No	ClinGen gnomAD
rs762756154 CA2556489	287	E>K		No	ClinGen ExAC TOPMed gnomAD
rs775076836 CA2556488	288	E>K		No	ClinGen ExAC gnomAD
rs1233322348 CA354032630	292	P>L		No	ClinGen gnomAD
CA354032610 rs1325413005	294	V>L		No	ClinGen gnomAD
CA354032612 rs1325413005	294	V>M		No	ClinGen gnomAD
CA354032581 rs1251969052	296	P>A		No	ClinGen TOPMed
rs1043366825 CA81709839	297	P>L		No	ClinGen gnomAD
rs1481655602 CA354032542	298	Q>R		No	ClinGen TOPMed
rs547118452 CA2556486	301	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1436862231 CA354032511	303	S>C		No	ClinGen gnomAD
CA2556485 rs781406914	304	L>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	304	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354032501 rs1335805203	305	Q>R		No	ClinGen gnomAD
CA2556484 rs757841049	306	Q>R		No	ClinGen ExAC gnomAD
rs747418759 CA2556483	307	T>I		No	ClinGen ExAC TOPMed gnomAD
rs758502664 CA2556482	308	P>S		No	ClinGen ExAC gnomAD
rs758502664 CA2556481	308	P>T		No	ClinGen ExAC gnomAD
rs993035544 CA81709790	309	P>A		No	ClinGen TOPMed gnomAD
rs921670336 CA81709781	309	P>L		No	ClinGen TOPMed gnomAD
rs1577168041 CA354032463	312	T>P		No	ClinGen Ensembl
CA2556477 rs750287341	321	A>G		No	ClinGen ExAC gnomAD
rs765595736 CA81709738	321	A>S		No	ClinGen ExAC gnomAD
rs765595736 CA2556479	321	A>T		No	ClinGen ExAC gnomAD
rs750287341 CA2556478	321	A>V		No	ClinGen ExAC gnomAD
rs1159036985 CA354032343	322	P>R		No	ClinGen gnomAD
rs761811299 CA2556475	322	P>S		No	ClinGen ExAC gnomAD
CA2556474 rs140213174	323	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs762501897 CA2556472	325	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs200260660 CA2556473	325	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs984025578 CA81709681	326	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA354032216 rs1334673679	332	D>E		No	ClinGen TOPMed gnomAD
CA354032230 rs1360691319	332	D>N		No	ClinGen gnomAD
rs745495744 CA354032193	334	G>A		No	ClinGen ExAC gnomAD
CA2556469 rs745495744	334	G>D		No	ClinGen ExAC gnomAD
CA2556468 rs201176106	335	I>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1297006390 CA354028249	338	S>P		No	ClinGen TOPMed gnomAD
CA2556431 rs764835726	341	P>H		No	ClinGen ExAC TOPMed gnomAD
CA81705290 rs764835726	341	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1577164854 CA354028134	341	P>S		No	ClinGen Ensembl
CA354028121 rs1367588735	342	L>F		No	ClinGen gnomAD
TCGA novel	346	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354027966 rs1395799878	348	V>L		No	ClinGen gnomAD
rs758923041 CA2556430	349	I>R		No	ClinGen ExAC gnomAD
TCGA novel	351	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354027915 rs1560094891	351	R>T		No	ClinGen Ensembl
CA81705280 rs1004983028	352	G>R		No	ClinGen Ensembl
CA2556429 rs753356394	352	G>V		No	ClinGen ExAC gnomAD
CA2556428 rs766011707	353	Q>*		No	ClinGen ExAC gnomAD
rs760389171 CA2556427	354	A>P		No	ClinGen ExAC TOPMed gnomAD
CA2556426 rs773725036	354	A>V		No	ClinGen ExAC TOPMed gnomAD
CA81705236 rs886904044	359	T>I		No	ClinGen TOPMed
rs151178767 CA2556423	361	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA81705234 rs151178767	361	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2556421 rs143015321	362	P>H		No	ClinGen ESP ExAC gnomAD
CA354027784 rs143015321	362	P>R		No	ClinGen ESP ExAC gnomAD
rs749370045 CA2556420	364	L>H		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q9HBU9

No regional properties for Q9HBU9

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9HBU9

Functions

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

2 GO annotations of cellular component

Name	Definition
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.
sarcolemma	The outer membrane of a muscle cell, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers.

1 GO annotations of molecular function

Name	Definition
cAMP binding	Binding to cAMP, the nucleotide cyclic AMP (adenosine 3',5'-cyclophosphate).

5 GO annotations of biological process

Name	Definition
heart development	The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood.
regulation of heart rate	Any process that modulates the frequency or rate of heart contraction.
regulation of membrane potential	Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane.
skeletal muscle tissue development	The developmental sequence of events leading to the formation of adult skeletal muscle tissue. The main events are: the fusion of myoblasts to form myotubes that increase in size by further fusion to them of myoblasts, the formation of myofibrils within their cytoplasm and the establishment of functional neuromuscular junctions with motor neurons. At this stage they can be regarded as mature muscle fibers.
striated muscle cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of a striated muscle cell; striated muscle fibers are divided by transverse bands into striations, and cardiac and voluntary muscle are types of striated muscle.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9ES82	Popdc2	Popeye domain-containing protein 2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MSANSSRVGQ	LLLQGSACIR	WKQDVEGAVY	HLANCLLLLG	FMGGSGVYGC	FYLFGFLSAG
70	80	90	100	110	120
YLCCVLWGWF	SACGLDIVLW	SFLLAVVCLL	QLAHLVYRLR	EDTLPEEFDL	LYKTLCLPLQ
130	140	150	160	170	180
VPLQTYKEIV	HCCEEQVLTL	ATEQTYAVEG	ETPINRLSLL	LSGRVRVSQD	GQFLHYIFPY
190	200	210	220	230	240
QFMDSPEWES	LQPSEEGVFQ	VTLTAETSCS	YISWPRKSLH	LLLTKERYIS	CLFSALLGYD
250	260	270	280	290	300
ISEKLYTLND	KLFAKFGLRF	DIRLPSLYHV	LGPTAADAGP	ESEKGDEEVC	EPAVSPPQAT
310	320	330	340	350	360
PTSLQQTPPC	STPPATTNFP	APPTRARLSR	PDSGILASRI	PLQSYSQVIS	RGQAPLAPTH

TPEL