AiPD: Autoinhibited Protein Database

P55039

Gene name	DRG2
Protein name	Developmentally-regulated GTP-binding protein 2
Names	DRG-2, Translation factor GTPase DRG2, TRAFAC GTPase DRG2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1819
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

7-87 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

7-87 (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 P55039

Entry ID	Method	Resolution	Chain	Position	Source
AF-P55039-F1	Predicted				AlphaFoldDB

250 variants for P55039

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA398581706 rs1253872958	3	I>L		No	ClinGen gnomAD
rs989781832 CA288397082	5	E>K		No	ClinGen TOPMed
CA398581812 rs1358335617	8	S>L		No	ClinGen Ensembl
TCGA novel	9	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763773058 CA8422280	11	E>A		No	ClinGen ExAC gnomAD
CA398581857 rs1292799736	11	E>D		No	ClinGen TOPMed
CA398581891 rs1168459730	13	E>*		No	ClinGen gnomAD
rs1398305459 CA398581896	13	E>V		No	ClinGen gnomAD
rs915474769 CA288397113	15	A>D		No	ClinGen TOPMed
rs1324793560 CA398581928	15	A>S		No	ClinGen gnomAD
CA398581970 rs1442435124	17	T>I		No	ClinGen gnomAD
rs1294334458 CA398582633	22	A>D		No	ClinGen TOPMed gnomAD
rs1294334458 CA398582635	22	A>V		No	ClinGen TOPMed gnomAD
rs137987734 CA8422292	23	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8422293 rs770854583	24	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs774506911 CA8422294	25	Y>F		No	ClinGen ExAC gnomAD
CA8422295 rs759346896	26	H>Y		No	ClinGen ExAC
TCGA novel	28	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1211167539 CA398582696	32	A>V		No	ClinGen TOPMed
rs775232114 CA8422297	34	L>V		No	ClinGen ExAC gnomAD
rs1187171168 CA398582711	35	A>P		No	ClinGen TOPMed gnomAD
CA398582710 rs1187171168	35	A>T		No	ClinGen TOPMed gnomAD
CA8422299 rs763719660	37	Y>C		No	ClinGen ExAC gnomAD
CA398582735 rs1425349304	38	R>Q		No	ClinGen gnomAD
CA398582732 rs909461976	38	R>W		No	ClinGen TOPMed gnomAD
CA8422301 rs756938786	39	A>S		No	ClinGen ExAC gnomAD
rs1453838650 CA398582747	40	Q>H		No	ClinGen TOPMed gnomAD
rs1377436290 CA398582749	41	L>I		No	ClinGen TOPMed
CA8422303 rs749970628	44	P>L		No	ClinGen ExAC TOPMed gnomAD
rs201240203 CA8422302	44	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1414666956 CA398582780	46	K>*		No	ClinGen gnomAD
CA8422305 rs762479194	47	S>L		No	ClinGen ExAC TOPMed gnomAD
CA8422307 rs756614243	49	S>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	52	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746344845 CA288400209	53	E>K		No	ClinGen Ensembl
CA398582840 rs1415737122	55	F>C		No	ClinGen TOPMed
rs559042966 CA8422313	57	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA398582864 rs1482594661	58	M>I		No	ClinGen TOPMed
rs771972415 CA8422314	59	K>T		No	ClinGen ExAC
rs1249217324 CA398582875	60	S>L		No	ClinGen TOPMed
rs760455357 CA8422316	62	D>V		No	ClinGen ExAC gnomAD
rs776497961 CA8422318	63	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1160119540 CA398582897	64	R>C		No	ClinGen gnomAD
CA398582899 rs1392673486	64	R>H		No	ClinGen TOPMed gnomAD
rs761322895 CA8422319	66	A>V	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1361463805 CA398582945	72	S>T		No	ClinGen gnomAD
rs948772118 CA288400269	74	G>D		No	ClinGen gnomAD
rs199721861 CA288400277	75	K>E		No	ClinGen TOPMed
rs749867561 CA8422321	75	K>R		No	ClinGen ExAC gnomAD
CA398583905 rs1555533942 CA398583904	78	F>L		No	ClinGen Ensembl
rs1318253111 CA398583896	78	F>L		No	ClinGen gnomAD
CA398583916 rs1200382486	79	L>F		No	ClinGen gnomAD
CA398583957 rs1567602238	82	M>I		No	ClinGen Ensembl
CA398583967 rs1270855233	83	T>I		No	ClinGen gnomAD
CA398583977 rs1467781588	84	S>F		No	ClinGen gnomAD
rs373881018 CA8422335	85	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA8422336 rs377174144	86	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1474147738 CA398583985	86	A>T		No	ClinGen TOPMed gnomAD
CA8422339 rs769319746	90	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1401800190 CA398584045	91	S>F		No	ClinGen Ensembl
CA8422341 rs762700604	92	Y>C		No	ClinGen ExAC gnomAD
CA288402734 rs753515700	98	T>A		No	ClinGen Ensembl
CA8422343 rs751141769	98	T>M		No	ClinGen ExAC gnomAD
CA288402737 rs775504009	99	C>S		No	ClinGen Ensembl
CA8422345 rs764705374	100	I>V		No	ClinGen ExAC gnomAD
rs1341123990 CA398584153	102	G>R		No	ClinGen gnomAD
CA288402743 rs888147681	103	V>I		No	ClinGen TOPMed gnomAD
CA8422346 rs754133657	104	I>L		No	ClinGen ExAC gnomAD
CA398584515 rs1346178158	107	K>R		No	ClinGen TOPMed
rs1257441024 CA398584543	110	N>H		No	ClinGen TOPMed gnomAD
CA398584548 rs1597723879	110	N>S		No	ClinGen Ensembl
TCGA novel	115	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA398584616 rs1231377861	116	L>V		No	ClinGen gnomAD
CA288402968 rs918409242	120	I>T		No	ClinGen TOPMed gnomAD
rs1171676977 CA398584695	123	A>S		No	ClinGen gnomAD
rs1331591315 CA398584782	126	G>E		No	ClinGen gnomAD
CA398584795 rs1402102813	127	K>T		No	ClinGen gnomAD
rs1438034945 CA398584816	129	R>C		No	ClinGen gnomAD
rs771541882 CA8422382	129	R>H		No	ClinGen ExAC gnomAD
TCGA novel	130	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1331217172 CA398584823	130	G>S		No	ClinGen gnomAD
CA398584829 rs1221164546	130	G>V		No	ClinGen TOPMed
rs1268950451 CA398584835	131	R>Q		No	ClinGen TOPMed gnomAD
rs1235987685 CA398584833	131	R>W		No	ClinGen gnomAD
CA398584862 rs1597724590	133	V>G		No	ClinGen Ensembl
CA8422384 rs144963179	135	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8422385 rs144963179	135	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8422386 rs773534501	137	A>T		No	ClinGen ExAC gnomAD
CA8422387 rs763354888	137	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA288403293 rs755187661	138	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1268095526 CA398584922	139	T>M		No	ClinGen gnomAD
rs758344779 CA8422391	142	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1171171459 CA398584964	143	I>M		No	ClinGen gnomAD
rs200238045 CA8422392	143	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8422394 CA8422395 rs777909206	145	M>I		No	ClinGen ExAC gnomAD
rs1040490802 CA288403312	145	M>V		No	ClinGen TOPMed gnomAD
CA288403318 rs763554633	148	D>N		No	ClinGen Ensembl
CA288403319 rs1043121438	150	T>S		No	ClinGen TOPMed
rs778854251 CA8422397	151	K>*		No	ClinGen ExAC gnomAD
rs576678745 CA398585041	151	K>N		No	ClinGen 1000Genomes ExAC gnomAD
CA8422399 rs771641761	152	G>E		No	ClinGen ExAC gnomAD
rs1280437317 CA398585068	154	V>L		No	ClinGen gnomAD
rs1311912156 CA398585082	155	Q>*		No	ClinGen gnomAD
TCGA novel	155	Q>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8422427 rs775644445	159	L>R		No	ClinGen ExAC TOPMed gnomAD
CA8422428 rs760980001	164	E>Q		No	ClinGen ExAC gnomAD
rs764209319 CA8422429	167	G>S		No	ClinGen ExAC gnomAD
CA8422430 rs147529975	169	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs373775006 CA8422431	169	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA8422432 rs373775006	169	R>L		No	ClinGen ESP ExAC gnomAD
rs1393781830 CA398585339	174	K>*		No	ClinGen gnomAD
rs1427080001 CA398585765	182	K>R		No	ClinGen gnomAD
rs980557457 CA288403868	185	G>S		No	ClinGen gnomAD
rs773089223 CA8422451	186	G>S		No	ClinGen ExAC gnomAD
CA8422453 rs766041134	191	S>L		No	ClinGen ExAC TOPMed gnomAD
rs754595079 CA8422455	192	T>I		No	ClinGen ExAC gnomAD
rs755693180 CA8422458	193	V>A		No	ClinGen ExAC gnomAD
CA8422457 RCV000963508 rs143296623	193	V>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs777345259 CA8422459	194	T>A		No	ClinGen ExAC gnomAD
VAR_067452 rs17855350 CA8422460	194	T>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8422461 rs17855350	194	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA288403919 rs148333485	196	T>I		No	ClinGen 1000Genomes
CA398585933 rs1597725926	198	C>F		No	ClinGen Ensembl
CA8422465 rs151078395	199	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1287314001 CA398585940	199	S>P		No	ClinGen TOPMed gnomAD
rs769694419 CA8422467	202	L>V		No	ClinGen ExAC gnomAD
rs1030561490 CA288403925	203	V>A		No	ClinGen TOPMed
rs773366130 CA8422468	203	V>L		No	ClinGen ExAC gnomAD
rs762759596 CA8422469	204	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA8422470 rs766381603	205	L>V		No	ClinGen ExAC TOPMed gnomAD
rs759388220 CA398586024	207	L>V		No	ClinGen ExAC gnomAD
rs199769378 CA398586042	208	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8422473 rs767155155	208	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA288403952 rs939671175	209	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA398586122 rs1327113123	211	K>R		No	ClinGen gnomAD
rs1236637499 CA398586134	212	I>N		No	ClinGen gnomAD
rs1236637499 CA398586135	212	I>T		No	ClinGen gnomAD
CA8422502 rs374864284	214	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs374864284 CA8422501	214	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA398586180 rs1411818984	216	E>G		No	ClinGen TOPMed
TCGA novel	216	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA398586204 rs1382274091	219	F>L		No	ClinGen gnomAD
rs974984848 CA288404301	220	R>*		No	ClinGen TOPMed gnomAD
CA398586215 rs1170749129	220	R>Q		No	ClinGen TOPMed gnomAD
CA8422504 rs756269932	221	E>*		No	ClinGen ExAC gnomAD
rs1567604396 CA398586238	222	D>V		No	ClinGen Ensembl
rs953712475 CA288404313	223	C>S		No	ClinGen TOPMed
CA8422506 rs61256737	224	S>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_067453 rs61256737 CA8422505	224	S>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs867279336 CA288404336	225	P>L		No	ClinGen Ensembl
CA8422508 rs778981826	225	P>L		No	ClinGen ExAC gnomAD
rs373449509 CA8422511	228	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1319557456 CA398586312	229	I>F		No	ClinGen TOPMed
CA398586329 rs1346129259	230	D>E		No	ClinGen TOPMed gnomAD
CA8422513 rs201092471	230	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs377415926 CA8422514	231	V>L		No	ClinGen ExAC gnomAD
rs377415926 CA398586332	231	V>M		No	ClinGen ExAC gnomAD
rs764781709 CA8422516	233	V>L		No	ClinGen ExAC TOPMed gnomAD
rs764781709 CA398586351	233	V>M		No	ClinGen ExAC TOPMed gnomAD
CA398586373 rs1299108678	235	N>T		No	ClinGen TOPMed
rs749974445 CA8422517	236	R>Q		No	ClinGen ExAC gnomAD
CA8422519 rs768188297	239	M>L		No	ClinGen ExAC gnomAD
rs768188297 CA398586409	239	M>V		No	ClinGen ExAC gnomAD
rs913404985 CA288404378	240	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1348378000 CA398586434	241	C>F		No	ClinGen TOPMed
CA398586459 rs1567604583	243	Y>*		No	ClinGen Ensembl
CA288404628 rs981560358	246	N>D		No	ClinGen Ensembl
CA288404634 rs528486379	248	I>L		No	ClinGen 1000Genomes
rs764475222 CA8422541	249	D>N		No	ClinGen ExAC gnomAD
CA398586580 rs1368532413 COSM1609912	250	Q>H	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1170240641 CA398586583	251	I>L		No	ClinGen TOPMed
rs866366275 CA288404673	252	S>F		No	ClinGen Ensembl
rs757436313 CA8422544	252	S>P		No	ClinGen ExAC TOPMed gnomAD
CA398586607 rs1420653075	253	M>T		No	ClinGen TOPMed gnomAD
rs1244359481 CA398586602	253	M>V		No	ClinGen gnomAD
rs937590572 CA288404681	254	E>G		No	ClinGen Ensembl
CA8422545 COSM417160 rs765487914	255	E>K	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA398586628 rs765487914	255	E>Q		No	ClinGen ExAC gnomAD
CA288404683 rs909221945	258	R>C		No	ClinGen TOPMed gnomAD
rs189164573 CA8422546	258	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1194164483 CA398586680	261	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs758537189 CA8422547	261	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8422549 rs746904743	265	S>N		No	ClinGen ExAC gnomAD
rs754894145 CA8422550	267	V>I		No	ClinGen ExAC gnomAD
rs1157381012 CA398586756	269	S>N		No	ClinGen gnomAD
CA8422567 rs754920926	271	G>S		No	ClinGen ExAC gnomAD
CA398587089 rs1396455443	272	M>T		No	ClinGen TOPMed
CA8422568 rs781050292	273	K>N		No	ClinGen ExAC gnomAD
TCGA novel	273	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA398587113 rs1176196745	274	L>P		No	ClinGen TOPMed
rs902526200 CA288405717	278	Y>C		No	ClinGen TOPMed gnomAD
CA398587167 rs902526200	278	Y>F		No	ClinGen TOPMed gnomAD
rs201769580 CA8422569	281	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA288405722 rs867969225	281	E>K		No	ClinGen TOPMed gnomAD
rs200341268 CA8422570	283	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs748903381 CA8422572	284	W>*		No	ClinGen ExAC gnomAD
rs1597729262 CA398587239	284	W>*		No	ClinGen Ensembl
rs1232312148 CA398587261	285	E>D		No	ClinGen gnomAD
CA288405737 rs1056499357	287	L>S		No	ClinGen Ensembl
CA398587322 rs1567606180	292	I>T		No	ClinGen Ensembl
rs1236960718 CA398587319	292	I>V		No	ClinGen TOPMed gnomAD
rs1484827017 CA398587330	293	Y>C		No	ClinGen TOPMed
CA8422575 CA398587371 rs200648354	298	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769190229 CA8422576	299	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs202181207 CA8422600	299	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA398587422 rs1468447694	300	R>M		No	ClinGen TOPMed
rs774371504 CA8422601	302	D>N		No	ClinGen ExAC gnomAD
rs372901837 CA8422602	303	F>I		No	ClinGen ESP ExAC gnomAD
CA398587497 rs140494271	305	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1294676151 CA398587486	305	D>N		No	ClinGen gnomAD
rs775747014 CA8422605	306	A>S		No	ClinGen ExAC TOPMed gnomAD
rs775747014 CA8422604	306	A>T		No	ClinGen ExAC TOPMed gnomAD
CA8422606 rs764180629	308	I>V		No	ClinGen ExAC gnomAD
CA288406070 rs557970689	310	R>Q		No	ClinGen gnomAD
rs1476491698 CA398587553	310	R>W		No	ClinGen TOPMed gnomAD
rs753668831 CA8422607	311	K>E		No	ClinGen ExAC gnomAD
rs749983778 CA8422610	317	H>Y		No	ClinGen ExAC gnomAD
rs145624234 CA8422612	318	V>M		No	ClinGen ESP ExAC gnomAD
rs779536440 CA8422655	321	R>C		No	ClinGen ExAC TOPMed gnomAD
rs552445784 CA8422656 COSM1381274	321	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs552445784 CA398588023	321	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1285801241 CA398588050	323	H>L		No	ClinGen TOPMed
CA288406843 rs1000706461	324	R>Q		No	ClinGen TOPMed gnomAD
CA288406840 rs904589308	324	R>W		No	ClinGen Ensembl
CA8422659 rs374043604	327	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA8422661 rs374043604	327	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs374043604 CA8422660	327	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA398588114 rs1225517818	328	S>N		No	ClinGen TOPMed gnomAD
rs748309179 CA8422662	328	S>R		No	ClinGen ExAC TOPMed gnomAD
rs773134952 CA8422664	331	K>R		No	ClinGen ExAC gnomAD
TCGA novel	331	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776315703 CA8422692	338	T>I		No	ClinGen ExAC gnomAD
CA8422694 rs767043429	344	P>A		No	ClinGen ExAC TOPMed gnomAD
rs751959711 CA8422695	344	P>L		No	ClinGen ExAC TOPMed gnomAD
rs756320814 CA398588623	346	R>P		No	ClinGen ExAC TOPMed gnomAD
rs756320814 CA8422699	346	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8422698 rs752914958	346	R>W		No	ClinGen ExAC gnomAD
CA398588656 rs1567608678	350	T>A		No	ClinGen Ensembl
CA398588665 rs1263461358	351	H>Y		No	ClinGen gnomAD
rs749415985 CA8422701	353	M>T		No	ClinGen ExAC gnomAD
rs1398531932 CA398588682	353	M>V		No	ClinGen gnomAD
rs1182390928 CA398588689	354	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs778885584 CA398588704	355	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA8422702 rs757171027	355	H>Y		No	ClinGen ExAC gnomAD
CA288407269 rs760987687	358	V>I		No	ClinGen Ensembl
rs776260806 CA8422710	362	V>L		No	ClinGen ExAC gnomAD
rs776260806 CA8422709	362	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8422711 rs546105250	363	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs896885484 CA288407309	365	K>K		No	ClinGen Ensembl
CA398588771 rs1597734820	365	K>Y		No	ClinGen Ensembl

No associated diseases with P55039

1 regional properties for P55039

Type	Name	Position	InterPro Accession
domain	Survival protein SurE-like phosphatase/nucleotidase	1 - 238	IPR002828

Functions

		Description
EC Number
Subcellular Localization	Nucleus Cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
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.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

4 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.
metal ion binding	Binding to a metal ion.
RNA binding	Binding to an RNA molecule or a portion thereof.

2 GO annotations of biological process

Name	Definition
cytoplasmic translation	The chemical reactions and pathways resulting in the formation of a protein in the cytoplasm. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q58D56	DRG2	Developmentally-regulated GTP-binding protein 2	Bos taurus (Bovine)	PR

10	20	30	40	50	60
MGILEKISEI	EKEIARTQKN	KATEYHLGLL	KAKLAKYRAQ	LLEPSKSASS	KGEGFDVMKS
70	80	90	100	110	120
GDARVALIGF	PSVGKSTFLS	LMTSTASEAA	SYEFTTLTCI	PGVIEYKGAN	IQLLDLPGII
130	140	150	160	170	180
EGAAQGKGRG	RQVIAVARTA	DVIIMMLDAT	KGEVQRSLLE	KELESVGIRL	NKHKPNIYFK
190	200	210	220	230	240
PKKGGGISFN	STVTLTQCSE	KLVQLILHEY	KIFNAEVLFR	EDCSPDEFID	VIVGNRVYMP
250	260	270	280	290	300
CLYVYNKIDQ	ISMEEVDRLA	RKPNSVVISC	GMKLNLDYLL	EMLWEYLALT	CIYTKKRGQR
310	320	330	340	350	360
PDFTDAIILR	KGASVEHVCH	RIHRSLASQF	KYALVWGTST	KYSPQRVGLT	HTMEHEDVIQ

IVKK