AiPD: Autoinhibited Protein Database

Q9BY42

Gene name	RTF2
Protein name	Replication termination factor 2
Names	RTF2, Replication termination factor 2 domain-containing protein 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:51507
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

185-306 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

185-306 (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 Q9BY42

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9BY42-F1	Predicted				AlphaFoldDB

215 variants for Q9BY42

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs756488427 CA9918424	9	P>H		No	ClinGen ExAC gnomAD
rs894864891 CA316181008	9	P>T		No	ClinGen Ensembl
rs1011948840 CA316181028	10	K>E		No	ClinGen Ensembl
CA409403798 rs1376731729	10	K>R		No	ClinGen gnomAD
TCGA novel	13	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409403838 rs1401491802	16	K>T		No	ClinGen gnomAD
CA316181051 rs892268934	17	G>R		No	ClinGen Ensembl
CA9918427 rs376450935	19	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1276602809 CA409403873	21	V>A		No	ClinGen TOPMed gnomAD
rs1473497788 CA409403869	21	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs150991888	24	V>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs530872363 CA9918468	25	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201427771 CA316185859	29	E>G		No	ClinGen 1000Genomes
CA409404790 rs1162374833	31	V>E		No	ClinGen TOPMed
CA9918469 rs755968664	32	A>T		No	ClinGen ExAC gnomAD
rs1422521065 CA409404797	32	A>V		No	ClinGen TOPMed
rs777713228 CA9918470	33	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA409404827 rs1238629356	36	Y>F		No	ClinGen gnomAD
rs1438518574 CA409404832	37	C>R		No	ClinGen TOPMed
rs1438518574 CA409404831	37	C>S		No	ClinGen TOPMed
TCGA novel	42	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409404874 rs1397157728	43	I>V		No	ClinGen gnomAD
rs1220633709 CA409404895	46	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA409404896 rs1379923765	46	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs763848279 CA316185926	48	I>T		No	ClinGen TOPMed gnomAD
CA9918475 rs201197027	48	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1600793886 CA409405026	60	D>G		No	ClinGen Ensembl
TCGA novel	60	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs367644902 CA9918502	62	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs754573990 CA9918503	63	I>T		No	ClinGen ExAC gnomAD
CA409405050 rs1483668208	63	I>V		No	ClinGen TOPMed
CA9918505 rs748608687	68	D>V		No	ClinGen ExAC gnomAD
TCGA novel	69	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770430701 CA9918506	69	K>R		No	ClinGen ExAC gnomAD
CA409405161 rs1293590024	71	A>V		No	ClinGen gnomAD
CA9918507 rs548721487	72	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA409405165 rs548721487	72	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1276660498 CA409405194	74	A>V		No	ClinGen TOPMed
rs1229140707 CA409405208	76	G>R		No	ClinGen TOPMed
CA9918509 rs771038775	79	A>E		No	ClinGen ExAC gnomAD
rs1372874920 CA409405242	79	A>P		No	ClinGen gnomAD
rs1043643340 CA316187189	82	I>V		No	ClinGen TOPMed
rs1276584487 CA409405293	83	K>R		No	ClinGen gnomAD
CA9918510 rs774678552	85	I>V		No	ClinGen ExAC gnomAD
CA409405753 rs1319588156	89	T>S		No	ClinGen TOPMed
rs141536737 CA9918523	92	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA9918524 rs11558197	93	L>V		No	ClinGen ExAC gnomAD
rs945535771 CA316188945	96	N>S		No	ClinGen Ensembl
CA409405848 rs1377595805	97	P>R		No	ClinGen TOPMed gnomAD
rs1422379623 CA409405887	100	E>D		No	ClinGen TOPMed
CA409405898 rs1194965160	101	G>E		No	ClinGen TOPMed
rs559699688 CA9918526	103	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1173663078 CA409405928	104	G>R		No	ClinGen gnomAD
rs774426800 CA9918527	106	T>A		No	ClinGen ExAC gnomAD
rs746027833 CA9918528	108	G>S		No	ClinGen ExAC gnomAD
CA9918529 rs145146822	110	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA316189048 rs932144676	111	H>Y		No	ClinGen TOPMed
TCGA novel	112	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369021413 CA9918532	112	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA409406032 rs1321380274	113	D>A		No	ClinGen gnomAD
CA9918533 rs773241100	115	Q>P		No	ClinGen ExAC gnomAD
rs149439941 CA9918535	116	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA9918534 rs762651242	116	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1568692421 CA409406072	117	A>T		No	ClinGen Ensembl
CA9918537 rs551628482	117	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752235459 CA9918539	118	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9918540 rs62210661	118	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	119	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA316189148 rs896154170	121	C>F		No	ClinGen TOPMed
CA409406134 rs1289247434	123	V>A		No	ClinGen TOPMed
CA9918542 rs754431592	123	V>F		No	ClinGen ExAC TOPMed gnomAD
rs754431592 CA9918543	123	V>I		No	ClinGen ExAC TOPMed gnomAD
CA9918545 rs746259511	128	M>I		No	ClinGen ExAC gnomAD
CA9918544 rs779267764	128	M>V		No	ClinGen ExAC gnomAD
CA409406195 rs1437334231	129	N>S		No	ClinGen gnomAD
rs1184983349 CA409406211	130	G>V		No	ClinGen gnomAD
rs780301217 CA9918547	131	R>*		No	ClinGen ExAC TOPMed gnomAD
CA316189204 rs748863595	131	R>Q		No	ClinGen gnomAD
CA409406223 rs1161188054	132	H>Y		No	ClinGen TOPMed gnomAD
CA409406447 rs1427733993	135	C>S		No	ClinGen TOPMed
CA9918570 rs770881705	137	L>F		No	ClinGen ExAC gnomAD
CA9918572 rs375978790	138	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs774473075 CA9918571	138	R>W		No	ClinGen ExAC gnomAD
CA316196435 rs958826892	139	C>Y		No	ClinGen TOPMed gnomAD
rs760304536 CA9918575	141	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
rs1568695589 CA409406490	142	C>F		No	ClinGen Ensembl
rs763681770 CA9918576	142	C>R		No	ClinGen ExAC gnomAD
CA409406493 rs1376244447	142	C>W		No	ClinGen gnomAD
CA409406495 rs1475358713	143	V>L		No	ClinGen TOPMed
TCGA novel	145	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1416871760 CA409406523	147	R>*		No	ClinGen TOPMed gnomAD
CA9918577 rs776154771	147	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA409406529 rs761276048	148	A>D		No	ClinGen ExAC gnomAD
CA9918578 rs761276048	148	A>V		No	ClinGen ExAC gnomAD
CA409406558 rs1308713611	152	I>M		No	ClinGen gnomAD
rs750994264 CA9918580	152	I>R		No	ClinGen ExAC gnomAD
CA9918579 rs370327667	152	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA9918581 rs758748616	154	A>V		No	ClinGen ExAC TOPMed gnomAD
rs751952469 CA9918583	155	E>*		No	ClinGen ExAC gnomAD
TCGA novel	155	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA316196591 rs6024909 VAR_028134	159	T>A		No	ClinGen UniProt dbSNP gnomAD
CA409406604 rs1485450446	159	T>M	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA409414784 rs1239856138	162	A>V		No	ClinGen TOPMed
rs1157400114 CA409414785	163	A>T		No	ClinGen gnomAD
rs1458237195 CA409414804	165	Q>R		No	ClinGen gnomAD
rs1600835321 CA409414814	166	E>G		No	ClinGen Ensembl
CA9918736 rs751313768	167	D>E		No	ClinGen ExAC gnomAD
CA409414822 rs1320639411	167	D>V		No	ClinGen gnomAD
CA409414827 rs1292627418	168	D>A		No	ClinGen gnomAD
rs1433826259 CA409414826	168	D>N		No	ClinGen gnomAD
CA9918737 rs759274389	170	I>V		No	ClinGen ExAC gnomAD
rs1059768 CA409414845	171	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_028135 CA9918739 rs1059768	171	M>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9918741 rs140687107	173	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA409414861 rs140687107	173	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9918743 rs757688572	176	K>E		No	ClinGen ExAC gnomAD
CA409414880 rs1220961472	176	K>R		No	ClinGen gnomAD
CA9918744 rs376685917	178	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1032074045 CA409414892	178	D>N		No	ClinGen gnomAD
rs1032074045 CA316219482	178	D>Y		No	ClinGen gnomAD
CA409414910 rs552833396	180	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA409414908 rs1411779695	180	D>G		No	ClinGen gnomAD
CA409414913 CA409414912 rs758627888	181	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
CA9918746 rs758627888	181	V>M		No	ClinGen ExAC TOPMed gnomAD
rs747083601 CA9918748	184	T>R		No	ClinGen ExAC
CA409414939 rs1350040010	185	R>K		No	ClinGen gnomAD
rs773064728 CA9918751	185	R>S		No	ClinGen ExAC gnomAD
CA409414944 rs749080267	186	M>K		No	ClinGen ExAC TOPMed gnomAD
rs749080267 CA9918752	186	M>T		No	ClinGen ExAC TOPMed gnomAD
CA409414953 rs1349698986	187	E>G		No	ClinGen gnomAD
CA316219524 rs987797145	189	R>I		No	ClinGen Ensembl
CA409414974 rs1410320791	190	R>T		No	ClinGen gnomAD
rs774291056 CA9918754	191	L>P		No	ClinGen ExAC TOPMed gnomAD
rs563600541 CA9918757	193	A>G		No	ClinGen ExAC TOPMed gnomAD
rs563600541 CA9918756	193	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA409415010 rs1600835534	196	E>G		No	ClinGen Ensembl
rs1483609835 CA409415016	197	K>*		No	ClinGen gnomAD
CA409415021 rs1236181960	197	K>N		No	ClinGen gnomAD
CA409415018 rs1184828244	197	K>R		No	ClinGen gnomAD
rs776125741 CA9918781	199	T>A		No	ClinGen ExAC gnomAD
CA316220897 rs900807932	203	K>E		No	ClinGen Ensembl
rs1169426910 CA409415500	207	S>F		No	ClinGen gnomAD
rs762270957 CA9918782	211	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	212	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9918783 rs765757381	214	S>I		No	ClinGen ExAC gnomAD
rs368029194 CA9918784	214	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs763348585 CA9918786	215	E>G		No	ClinGen ExAC gnomAD
CA9918798 rs768389162	216	E>D		No	ClinGen ExAC TOPMed gnomAD
rs776074412 CA9918799	217	A>P		No	ClinGen ExAC gnomAD
CA409415610 rs1276976285	217	A>V		No	ClinGen TOPMed gnomAD
rs928670568 CA316220959	218	P>A		No	ClinGen Ensembl
CA409415662 rs1262907951	223	V>A		No	ClinGen TOPMed
CA9918800 rs369544029	223	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs770257349 CA9918801	225	T>A		No	ClinGen ExAC
rs773775689 CA9918802	225	T>I		No	ClinGen ExAC TOPMed gnomAD
CA409415684 CA9918803 rs763363709	226	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1218672604 CA409415702	228	P>S		No	ClinGen TOPMed
rs372910315 CA316220985	230	E>V		No	ClinGen ESP TOPMed
CA9918806 rs759626991	231	A>P		No	ClinGen ExAC gnomAD
TCGA novel	235	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs991768501 CA316220989	236	R>G		No	ClinGen Ensembl
CA409415785 rs1471555429	238	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA409415798 rs1600840433	239	K>N		No	ClinGen Ensembl
rs767826649 CA9918807	239	K>Q		No	ClinGen ExAC gnomAD
CA316220996 rs572069548	241	N>S		No	ClinGen gnomAD
rs572069548 CA409415812	241	N>T		No	ClinGen gnomAD
CA9918810 rs756324196	242	L>F		No	ClinGen ExAC gnomAD
rs1345984937 CA409415827	243	A>S		No	ClinGen TOPMed
rs778977127 CA9918811	243	A>V		No	ClinGen ExAC TOPMed
CA9918813 rs74601111	244	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1346844880 CA409415843	245	K>R		No	ClinGen TOPMed
CA409415867 rs1289482065	248	A>T		No	ClinGen gnomAD
CA316221349 rs139746345	249	M>V		No	ClinGen ESP gnomAD
rs780811882 CA9918836	251	E>K		No	ClinGen ExAC gnomAD
TCGA novel	252	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1275171073 CA409415910	252	S>R		No	ClinGen gnomAD
CA409415933 rs1600841530	255	G>E		No	ClinGen Ensembl
rs1289277075 CA409415940	256	K>R		No	ClinGen TOPMed
rs1600841548 CA409415961	259	K>N		No	ClinGen Ensembl
rs747742676 CA9918837	259	K>R		No	ClinGen ExAC gnomAD
CA409415967 rs1344714514	260	P>L		No	ClinGen TOPMed
rs185266382 CA9918838	260	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs149969696 CA9918839	261	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA409415992 rs1185523393	264	A>V		No	ClinGen TOPMed gnomAD
CA9918843 rs746202683	267	R>K		No	ClinGen ExAC gnomAD
CA316221360 rs909627368	267	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	268	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200691661 CA9918845	269	I>M		No	ClinGen ExAC TOPMed gnomAD
CA9918844 rs772503920	269	I>V		No	ClinGen ExAC gnomAD
CA9918846 rs201707281	270	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9918847 rs201707281	270	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9918848 rs776555001	271	D>G		No	ClinGen ExAC TOPMed gnomAD
rs375845649 CA9918849	272	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA409416040 rs1479867473	272	S>R		No	ClinGen TOPMed
rs1316538931 CA409416051	274	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA316221376 rs972812010	275	S>L		No	ClinGen gnomAD
rs751574710 CA9918851	277	A>V		No	ClinGen ExAC gnomAD
rs1309082390 CA409399462	278	Y>C		No	ClinGen gnomAD
CA409416076 rs1478660303	278	Y>H		No	ClinGen TOPMed
TCGA novel	282	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1242089218 CA409399526	284	T>S		No	ClinGen TOPMed
CA9918852 rs754923467	286	S>T		No	ClinGen ExAC gnomAD
CA9918854 rs752509107	288	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	288	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1451183783 CA409399582	289	K>R		No	ClinGen gnomAD
rs755742259 CA9918855	290	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1246339170 CA409399608	291	S>P		No	ClinGen gnomAD
TCGA novel	294	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9918857 rs146701310	294	E>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756844857 CA9918858	295	S>C		No	ClinGen ExAC gnomAD
rs778297444 CA9918859	297	H>Y		No	ClinGen ExAC gnomAD
CA9918860 rs746316174	299	V>L		No	ClinGen ExAC gnomAD
rs1471281104 CA409399734	302	T>M		No	ClinGen gnomAD
CA9918862 rs780520208	304	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1368009942 CA409399767	305	C>F		No	ClinGen TOPMed

No associated diseases with Q9BY42

1 regional properties for Q9BY42

Type	Name	Position	InterPro Accession
domain	Replication termination factor 2, RING-finger	119 - 164	IPR027799

Functions

		Description
EC Number
Subcellular Localization	Chromosome	Localizes at the replication fork
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
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.
replication fork	The Y-shaped region of a replicating DNA molecule, resulting from the separation of the DNA strands and in which the synthesis of new strands takes place. Also includes associated protein complexes.

1 GO annotations of molecular function

Name	Definition
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).

3 GO annotations of biological process

Name	Definition
cellular response to hydroxyurea	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hydroxyurea stimulus.
mitotic DNA replication termination	Any DNA replication termination involved in mitotic cell cycle DNA replication.
regulation of DNA stability	Any process that modulates the stability of DNA.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MGCDGGTIPK	RHELVKGPKK	VEKVDKDAEL	VAQWNYCTLS	QEILRRPIVA	CELGRLYNKD
70	80	90	100	110	120
AVIEFLLDKS	AEKALGKAAS	HIKSIKNVTE	LKLSDNPAWE	GDKGNTKGDK	HDDLQRARFI
130	140	150	160	170	180
CPVVGLEMNG	RHRFCFLRCC	GCVFSERALK	EIKAEVCHTC	GAAFQEDDVI	MLNGTKEDVD
190	200	210	220	230	240
VLKTRMEERR	LRAKLEKKTK	KPKAAESVSK	PDVSEEAPGP	SKVKTGKPEE	ASLDSREKKT
250	260	270	280	290	300
NLAPKSTAMN	ESSSGKAGKP	PCGATKRSIA	DSEESEAYKS	LFTTHSSAKR	SKEESAHWVT

HTSYCF