Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	157570
Gene name	Establishment of sister chromatid cohesion N-acetyltransferase 2
Gene symbol	ESCO2
Synonyms (NCBI Gene)	2410004I17RikEFO2EFO2pJHSRBShEFO2
Chromosome	8
Chromosome location	8p21.1
Summary	This gene encodes a protein that may have acetyltransferase activity and may be required for the establishment of sister chromatid cohesion during the S phase of mitosis. Mutations in this gene have been associated with Roberts syndrome. [provided by RefS

Show/Hide all (33)

SNP ID	Visualize variation	Clinical significance	Consequence
rs80359844	AT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs80359845	GAGA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs80359846	AAAGA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs80359847	AA>-,AAA	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs80359848	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs80359849	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs80359850	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs80359851	GT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs80359852	A>-,AA	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs80359855	TT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs80359856	CAGA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs80359857	AG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs80359858	TAAG>-	Pathogenic	Coding sequence variant, intron variant, splice donor variant, non coding transcript variant
rs80359859	AAA>-,AAAA	Likely-pathogenic, uncertain-significance	Inframe deletion, coding sequence variant, non coding transcript variant, frameshift variant
rs80359861	G>A	Pathogenic	Splice donor variant
rs80359862	A>G,T	Pathogenic, likely-pathogenic	Intron variant
rs80359863	G>C	Pathogenic	Splice donor variant
rs80359864	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs80359865	G>A,C	Pathogenic	Intron variant
rs80359866	AG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs80359867	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs80359868	T>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs80359869	A>G	Pathogenic	Splice acceptor variant
rs146312522	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs149494070	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs797045565	A>TTTTAT	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs797045566	->A	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1185123354	T>C	Likely-pathogenic	Splice donor variant
rs1207909659	A>G	Likely-pathogenic	Splice acceptor variant
rs1554554098	->G	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1554555716	->G,T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1554556417	CTTTT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1585389705	->A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

274

Show/Hide all (274)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022088	hsa-miR-128-3p	Sequencing	20371350
MIRT026818	hsa-miR-192-5p	Microarray	19074876
MIRT523878	hsa-miR-6894-5p	PAR-CLIP	20371350
MIRT523879	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT523877	hsa-miR-149-3p	PAR-CLIP	20371350
MIRT523876	hsa-miR-4728-5p	PAR-CLIP	20371350
MIRT523875	hsa-miR-6785-5p	PAR-CLIP	20371350
MIRT523874	hsa-miR-6883-5p	PAR-CLIP	20371350
MIRT523873	hsa-miR-6799-5p	PAR-CLIP	20371350
MIRT523872	hsa-miR-7977	PAR-CLIP	20371350
MIRT523870	hsa-miR-30c-1-3p	PAR-CLIP	20371350
MIRT523869	hsa-miR-30c-2-3p	PAR-CLIP	20371350
MIRT523868	hsa-miR-6788-5p	PAR-CLIP	20371350
MIRT523867	hsa-miR-1273h-5p	PAR-CLIP	20371350
MIRT523866	hsa-miR-30b-3p	PAR-CLIP	20371350
MIRT523865	hsa-miR-3689a-3p	PAR-CLIP	20371350
MIRT523864	hsa-miR-3689b-3p	PAR-CLIP	20371350
MIRT523863	hsa-miR-3689c	PAR-CLIP	20371350
MIRT523862	hsa-miR-6779-5p	PAR-CLIP	20371350
MIRT523861	hsa-miR-6780a-5p	PAR-CLIP	20371350
MIRT523860	hsa-miR-450a-1-3p	PAR-CLIP	20371350
MIRT523859	hsa-miR-3122	PAR-CLIP	20371350
MIRT523858	hsa-miR-3913-5p	PAR-CLIP	20371350
MIRT523857	hsa-miR-887-5p	PAR-CLIP	20371350
MIRT523856	hsa-miR-6513-5p	PAR-CLIP	20371350
MIRT523878	hsa-miR-6894-5p	PAR-CLIP	20371350
MIRT523879	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT523877	hsa-miR-149-3p	PAR-CLIP	20371350
MIRT523876	hsa-miR-4728-5p	PAR-CLIP	20371350
MIRT523875	hsa-miR-6785-5p	PAR-CLIP	20371350
MIRT523874	hsa-miR-6883-5p	PAR-CLIP	20371350
MIRT523873	hsa-miR-6799-5p	PAR-CLIP	20371350
MIRT523872	hsa-miR-7977	PAR-CLIP	20371350
MIRT523870	hsa-miR-30c-1-3p	PAR-CLIP	20371350
MIRT523869	hsa-miR-30c-2-3p	PAR-CLIP	20371350
MIRT523868	hsa-miR-6788-5p	PAR-CLIP	20371350
MIRT523867	hsa-miR-1273h-5p	PAR-CLIP	20371350
MIRT523866	hsa-miR-30b-3p	PAR-CLIP	20371350
MIRT523865	hsa-miR-3689a-3p	PAR-CLIP	20371350
MIRT523864	hsa-miR-3689b-3p	PAR-CLIP	20371350
MIRT523863	hsa-miR-3689c	PAR-CLIP	20371350
MIRT523862	hsa-miR-6779-5p	PAR-CLIP	20371350
MIRT523861	hsa-miR-6780a-5p	PAR-CLIP	20371350
MIRT523860	hsa-miR-450a-1-3p	PAR-CLIP	20371350
MIRT523859	hsa-miR-3122	PAR-CLIP	20371350
MIRT523858	hsa-miR-3913-5p	PAR-CLIP	20371350
MIRT523857	hsa-miR-887-5p	PAR-CLIP	20371350
MIRT523856	hsa-miR-6513-5p	PAR-CLIP	20371350
MIRT124026	hsa-miR-8088	PAR-CLIP	21572407
MIRT530696	hsa-miR-924	PAR-CLIP	21572407
MIRT124017	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT530695	hsa-miR-3659	PAR-CLIP	21572407
MIRT322452	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT124018	hsa-miR-627-5p	PAR-CLIP	21572407
MIRT124021	hsa-miR-4658	PAR-CLIP	21572407
MIRT124025	hsa-miR-6790-5p	PAR-CLIP	21572407
MIRT558069	hsa-miR-210-3p	PAR-CLIP	21572407
MIRT322455	hsa-miR-3662	PAR-CLIP	21572407
MIRT558068	hsa-miR-3646	PAR-CLIP	21572407
MIRT558067	hsa-miR-548p	PAR-CLIP	21572407
MIRT558066	hsa-miR-3613-3p	PAR-CLIP	21572407
MIRT558065	hsa-miR-570-3p	PAR-CLIP	21572407
MIRT530696	hsa-miR-924	PAR-CLIP	22012620
MIRT124017	hsa-miR-574-5p	PAR-CLIP	22012620
MIRT530695	hsa-miR-3659	PAR-CLIP	22012620
MIRT322452	hsa-miR-223-5p	PAR-CLIP	22012620
MIRT530694	hsa-miR-6867-5p	PAR-CLIP	22012620
MIRT124018	hsa-miR-627-5p	PAR-CLIP	22012620
MIRT124021	hsa-miR-4658	PAR-CLIP	22012620
MIRT124025	hsa-miR-6790-5p	PAR-CLIP	22012620
MIRT523878	hsa-miR-6894-5p	PAR-CLIP	23446348
MIRT523879	hsa-miR-7106-5p	PAR-CLIP	23446348
MIRT523877	hsa-miR-149-3p	PAR-CLIP	23446348
MIRT523876	hsa-miR-4728-5p	PAR-CLIP	23446348
MIRT523875	hsa-miR-6785-5p	PAR-CLIP	23446348
MIRT523874	hsa-miR-6883-5p	PAR-CLIP	23446348
MIRT523873	hsa-miR-6799-5p	PAR-CLIP	23446348
MIRT523872	hsa-miR-7977	PAR-CLIP	23446348
MIRT523871	hsa-miR-943	PAR-CLIP	23446348
MIRT523870	hsa-miR-30c-1-3p	PAR-CLIP	23446348
MIRT523869	hsa-miR-30c-2-3p	PAR-CLIP	23446348
MIRT523868	hsa-miR-6788-5p	PAR-CLIP	23446348
MIRT523867	hsa-miR-1273h-5p	PAR-CLIP	23446348
MIRT523866	hsa-miR-30b-3p	PAR-CLIP	23446348
MIRT523865	hsa-miR-3689a-3p	PAR-CLIP	23446348
MIRT523864	hsa-miR-3689b-3p	PAR-CLIP	23446348
MIRT523863	hsa-miR-3689c	PAR-CLIP	23446348
MIRT523862	hsa-miR-6779-5p	PAR-CLIP	23446348
MIRT523861	hsa-miR-6780a-5p	PAR-CLIP	23446348
MIRT523860	hsa-miR-450a-1-3p	PAR-CLIP	23446348
MIRT523859	hsa-miR-3122	PAR-CLIP	23446348
MIRT523858	hsa-miR-3913-5p	PAR-CLIP	23446348
MIRT523857	hsa-miR-887-5p	PAR-CLIP	23446348
MIRT523856	hsa-miR-6513-5p	PAR-CLIP	23446348
MIRT523873	hsa-miR-6799-5p	PAR-CLIP	27292025
MIRT523878	hsa-miR-6894-5p	PAR-CLIP	20371350
MIRT523879	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT523877	hsa-miR-149-3p	PAR-CLIP	20371350
MIRT523876	hsa-miR-4728-5p	PAR-CLIP	20371350
MIRT523875	hsa-miR-6785-5p	PAR-CLIP	20371350
MIRT523874	hsa-miR-6883-5p	PAR-CLIP	20371350
MIRT523873	hsa-miR-6799-5p	PAR-CLIP	20371350
MIRT523872	hsa-miR-7977	PAR-CLIP	20371350
MIRT523870	hsa-miR-30c-1-3p	PAR-CLIP	20371350
MIRT523869	hsa-miR-30c-2-3p	PAR-CLIP	20371350
MIRT523868	hsa-miR-6788-5p	PAR-CLIP	20371350
MIRT523867	hsa-miR-1273h-5p	PAR-CLIP	20371350
MIRT523866	hsa-miR-30b-3p	PAR-CLIP	20371350
MIRT523865	hsa-miR-3689a-3p	PAR-CLIP	20371350
MIRT523864	hsa-miR-3689b-3p	PAR-CLIP	20371350
MIRT523863	hsa-miR-3689c	PAR-CLIP	20371350
MIRT523862	hsa-miR-6779-5p	PAR-CLIP	20371350
MIRT523861	hsa-miR-6780a-5p	PAR-CLIP	20371350
MIRT523860	hsa-miR-450a-1-3p	PAR-CLIP	20371350
MIRT523859	hsa-miR-3122	PAR-CLIP	20371350
MIRT523858	hsa-miR-3913-5p	PAR-CLIP	20371350
MIRT523857	hsa-miR-887-5p	PAR-CLIP	20371350
MIRT523856	hsa-miR-6513-5p	PAR-CLIP	20371350
MIRT523878	hsa-miR-6894-5p	PAR-CLIP	20371350
MIRT523879	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT523877	hsa-miR-149-3p	PAR-CLIP	20371350
MIRT523876	hsa-miR-4728-5p	PAR-CLIP	20371350
MIRT523875	hsa-miR-6785-5p	PAR-CLIP	20371350
MIRT523874	hsa-miR-6883-5p	PAR-CLIP	20371350
MIRT523873	hsa-miR-6799-5p	PAR-CLIP	20371350
MIRT523872	hsa-miR-7977	PAR-CLIP	20371350
MIRT523870	hsa-miR-30c-1-3p	PAR-CLIP	20371350
MIRT523869	hsa-miR-30c-2-3p	PAR-CLIP	20371350
MIRT523868	hsa-miR-6788-5p	PAR-CLIP	20371350
MIRT523867	hsa-miR-1273h-5p	PAR-CLIP	20371350
MIRT523866	hsa-miR-30b-3p	PAR-CLIP	20371350
MIRT523865	hsa-miR-3689a-3p	PAR-CLIP	20371350
MIRT523864	hsa-miR-3689b-3p	PAR-CLIP	20371350
MIRT523863	hsa-miR-3689c	PAR-CLIP	20371350
MIRT523862	hsa-miR-6779-5p	PAR-CLIP	20371350
MIRT523861	hsa-miR-6780a-5p	PAR-CLIP	20371350
MIRT523860	hsa-miR-450a-1-3p	PAR-CLIP	20371350
MIRT523859	hsa-miR-3122	PAR-CLIP	20371350
MIRT523858	hsa-miR-3913-5p	PAR-CLIP	20371350
MIRT523857	hsa-miR-887-5p	PAR-CLIP	20371350
MIRT523856	hsa-miR-6513-5p	PAR-CLIP	20371350
MIRT124026	hsa-miR-8088	PAR-CLIP	21572407
MIRT530696	hsa-miR-924	PAR-CLIP	21572407
MIRT124017	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT530695	hsa-miR-3659	PAR-CLIP	21572407
MIRT322452	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT124018	hsa-miR-627-5p	PAR-CLIP	21572407
MIRT124021	hsa-miR-4658	PAR-CLIP	21572407
MIRT124025	hsa-miR-6790-5p	PAR-CLIP	21572407
MIRT558069	hsa-miR-210-3p	PAR-CLIP	21572407
MIRT322455	hsa-miR-3662	PAR-CLIP	21572407
MIRT558068	hsa-miR-3646	PAR-CLIP	21572407
MIRT558067	hsa-miR-548p	PAR-CLIP	21572407
MIRT558066	hsa-miR-3613-3p	PAR-CLIP	21572407
MIRT558065	hsa-miR-570-3p	PAR-CLIP	21572407
MIRT530696	hsa-miR-924	PAR-CLIP	22012620
MIRT124017	hsa-miR-574-5p	PAR-CLIP	22012620
MIRT530695	hsa-miR-3659	PAR-CLIP	22012620
MIRT322452	hsa-miR-223-5p	PAR-CLIP	22012620
MIRT530694	hsa-miR-6867-5p	PAR-CLIP	22012620
MIRT124018	hsa-miR-627-5p	PAR-CLIP	22012620
MIRT124021	hsa-miR-4658	PAR-CLIP	22012620
MIRT124025	hsa-miR-6790-5p	PAR-CLIP	22012620
MIRT523878	hsa-miR-6894-5p	PAR-CLIP	23446348
MIRT523879	hsa-miR-7106-5p	PAR-CLIP	23446348
MIRT523877	hsa-miR-149-3p	PAR-CLIP	23446348
MIRT523876	hsa-miR-4728-5p	PAR-CLIP	23446348
MIRT523875	hsa-miR-6785-5p	PAR-CLIP	23446348
MIRT523874	hsa-miR-6883-5p	PAR-CLIP	23446348
MIRT523873	hsa-miR-6799-5p	PAR-CLIP	23446348
MIRT523872	hsa-miR-7977	PAR-CLIP	23446348
MIRT523871	hsa-miR-943	PAR-CLIP	23446348
MIRT523870	hsa-miR-30c-1-3p	PAR-CLIP	23446348
MIRT523869	hsa-miR-30c-2-3p	PAR-CLIP	23446348
MIRT523868	hsa-miR-6788-5p	PAR-CLIP	23446348
MIRT523867	hsa-miR-1273h-5p	PAR-CLIP	23446348
MIRT523866	hsa-miR-30b-3p	PAR-CLIP	23446348
MIRT523865	hsa-miR-3689a-3p	PAR-CLIP	23446348
MIRT523864	hsa-miR-3689b-3p	PAR-CLIP	23446348
MIRT523863	hsa-miR-3689c	PAR-CLIP	23446348
MIRT523862	hsa-miR-6779-5p	PAR-CLIP	23446348
MIRT523861	hsa-miR-6780a-5p	PAR-CLIP	23446348
MIRT523860	hsa-miR-450a-1-3p	PAR-CLIP	23446348
MIRT523859	hsa-miR-3122	PAR-CLIP	23446348
MIRT523858	hsa-miR-3913-5p	PAR-CLIP	23446348
MIRT523857	hsa-miR-887-5p	PAR-CLIP	23446348
MIRT523856	hsa-miR-6513-5p	PAR-CLIP	23446348
MIRT970143	hsa-miR-1179	CLIP-seq
MIRT970144	hsa-miR-1202	CLIP-seq
MIRT970145	hsa-miR-1245b-3p	CLIP-seq
MIRT970146	hsa-miR-1285	CLIP-seq
MIRT970147	hsa-miR-1323	CLIP-seq
MIRT970148	hsa-miR-18a	CLIP-seq
MIRT970149	hsa-miR-18b	CLIP-seq
MIRT970150	hsa-miR-194	CLIP-seq
MIRT970151	hsa-miR-200b	CLIP-seq
MIRT970152	hsa-miR-200c	CLIP-seq
MIRT970153	hsa-miR-2052	CLIP-seq
MIRT970154	hsa-miR-2053	CLIP-seq
MIRT970155	hsa-miR-223	CLIP-seq
MIRT970156	hsa-miR-24	CLIP-seq
MIRT970157	hsa-miR-298	CLIP-seq
MIRT970158	hsa-miR-3123	CLIP-seq
MIRT970159	hsa-miR-3149	CLIP-seq
MIRT970160	hsa-miR-3163	CLIP-seq
MIRT970161	hsa-miR-3187-5p	CLIP-seq
MIRT970162	hsa-miR-34b	CLIP-seq
MIRT970163	hsa-miR-3664-5p	CLIP-seq
MIRT970164	hsa-miR-374c	CLIP-seq
MIRT970165	hsa-miR-3913-3p	CLIP-seq
MIRT970166	hsa-miR-3925-5p	CLIP-seq
MIRT970167	hsa-miR-3929	CLIP-seq
MIRT970168	hsa-miR-3941	CLIP-seq
MIRT970169	hsa-miR-3942-3p	CLIP-seq
MIRT970170	hsa-miR-3972	CLIP-seq
MIRT970171	hsa-miR-3973	CLIP-seq
MIRT970172	hsa-miR-3976	CLIP-seq
MIRT970173	hsa-miR-4284	CLIP-seq
MIRT970174	hsa-miR-429	CLIP-seq
MIRT970175	hsa-miR-4307	CLIP-seq
MIRT970176	hsa-miR-4330	CLIP-seq
MIRT970177	hsa-miR-4419b	CLIP-seq
MIRT970178	hsa-miR-4424	CLIP-seq
MIRT970179	hsa-miR-4432	CLIP-seq
MIRT970180	hsa-miR-4438	CLIP-seq
MIRT970181	hsa-miR-4478	CLIP-seq
MIRT970182	hsa-miR-4505	CLIP-seq
MIRT970183	hsa-miR-4522	CLIP-seq
MIRT970184	hsa-miR-466	CLIP-seq
MIRT970185	hsa-miR-4672	CLIP-seq
MIRT970186	hsa-miR-4682	CLIP-seq
MIRT970187	hsa-miR-4697-3p	CLIP-seq
MIRT970188	hsa-miR-4699-3p	CLIP-seq
MIRT970189	hsa-miR-4735-3p	CLIP-seq
MIRT970190	hsa-miR-4742-3p	CLIP-seq
MIRT970191	hsa-miR-4742-5p	CLIP-seq
MIRT970192	hsa-miR-4755-3p	CLIP-seq
MIRT970193	hsa-miR-4764-3p	CLIP-seq
MIRT970194	hsa-miR-4776-3p	CLIP-seq
MIRT970195	hsa-miR-489	CLIP-seq
MIRT970196	hsa-miR-5095	CLIP-seq
MIRT970197	hsa-miR-519e	CLIP-seq
MIRT970198	hsa-miR-548c-3p	CLIP-seq
MIRT970199	hsa-miR-548o	CLIP-seq
MIRT970200	hsa-miR-548u	CLIP-seq
MIRT970201	hsa-miR-564	CLIP-seq
MIRT970202	hsa-miR-569	CLIP-seq
MIRT970203	hsa-miR-595	CLIP-seq
MIRT970204	hsa-miR-612	CLIP-seq
MIRT970205	hsa-miR-627	CLIP-seq
MIRT970206	hsa-miR-655	CLIP-seq
MIRT970207	hsa-miR-802	CLIP-seq
MIRT970208	hsa-miR-873	CLIP-seq
MIRT1987535	hsa-miR-1305	CLIP-seq
MIRT970151	hsa-miR-200b	CLIP-seq
MIRT970152	hsa-miR-200c	CLIP-seq
MIRT970164	hsa-miR-374c	CLIP-seq
MIRT970174	hsa-miR-429	CLIP-seq
MIRT1987536	hsa-miR-561	CLIP-seq
MIRT970206	hsa-miR-655	CLIP-seq
MIRT2221966	hsa-miR-1278	CLIP-seq
MIRT970150	hsa-miR-194	CLIP-seq
MIRT970155	hsa-miR-223	CLIP-seq
MIRT2221967	hsa-miR-3152-5p	CLIP-seq
MIRT2221968	hsa-miR-3688-5p	CLIP-seq
MIRT970165	hsa-miR-3913-3p	CLIP-seq
MIRT970171	hsa-miR-3973	CLIP-seq
MIRT2221969	hsa-miR-3977	CLIP-seq
MIRT2221970	hsa-miR-4502	CLIP-seq
MIRT970187	hsa-miR-4697-3p	CLIP-seq
MIRT2221971	hsa-miR-4762-3p	CLIP-seq
MIRT2221972	hsa-miR-4774-3p	CLIP-seq
MIRT970195	hsa-miR-489	CLIP-seq
MIRT970207	hsa-miR-802	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
ZNF143	Unknown	20116366

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	IDA	19907496
GO:0001741	Component	XY body	IEA
GO:0002244	Process	Hematopoietic progenitor cell differentiation	IEA
GO:0004468	Function	L-lysine N-acetyltransferase activity, acting on acetyl phosphate as donor	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IDA	15958495
GO:0005694	Component	Chromosome	IEA
GO:0005721	Component	Pericentric heterochromatin	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0006275	Process	Regulation of DNA replication	IMP	19907496
GO:0006302	Process	Double-strand break repair	IEA
GO:0007059	Process	Chromosome segregation	IEA
GO:0007062	Process	Sister chromatid cohesion	TAS
GO:0007064	Process	Mitotic sister chromatid cohesion	IBA
GO:0008080	Function	N-acetyltransferase activity	TAS
GO:0008270	Function	Zinc ion binding	IEA
GO:0010369	Component	Chromocenter	IEA
GO:0016407	Function	Acetyltransferase activity	IDA	15958495
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0030054	Component	Cell junction	IDA
GO:0034421	Process	Post-translational protein acetylation	IMP	21111234
GO:0035861	Component	Site of double-strand break	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0061733	Function	Protein-lysine-acetyltransferase activity	IBA
GO:0061733	Function	Protein-lysine-acetyltransferase activity	IEA
GO:0071168	Process	Protein localization to chromatin	IEA

MIM	HGNC	e!Ensembl
609353	27230	ENSG00000171320

Q56NI9

Protein name

N-acetyltransferase ESCO2 (EC 2.3.1.-) (Establishment factor-like protein 2) (EFO2) (EFO2p) (hEFO2) (Establishment of cohesion 1 homolog 2) (ECO1 homolog 2)

Protein function

Acetyltransferase required for the establishment of sister chromatid cohesion (PubMed:15821733, PubMed:15958495). Couples the processes of cohesion and DNA replication to ensure that only sister chromatids become paired together. In contrast to

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13878	zf-C2H2_3	374 → 413	zinc-finger of acetyl-transferase ESCO	Domain
PF13880	Acetyltransf_13	529 → 597	ESCO1/2 acetyl-transferase	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed in fetal tissues. In adult, it is expressed in thymus, placenta and small intestine. {ECO:0000269|PubMed:15821733}.

Sequence

MAALTPRKRKQDSLKCDSLLHFTENLFPSPNKKHCFYQNSDKNEENLHCSQQEHFVLSAL
KTTEINRLPSANQGSPFKSALSTVSFYNQNKWYLNPLERKLIKESRSTCLKTNDEDKSFP
IVTEKMQGKPVCSKKNNKKPQKSLTAKYQPKYRHIKPVSRNSRNSKQNRVIYKPIVEKEN
NCHSAENNSNAPRVLSQKIKPQVTLQGGAAFFVRKKSSLRKSSLENEPSLGRTQKSKSEV
IEDSDVETVSEKKTFATRQVPKCLVLEEKLKIGLLSASSKNKEKLIKDSSDDRVSSKEHK
VDKNEAFSSEDSLGENKTISPKSTVYPIFSASSVNSKRSLGEEQFSVGSVNFMKQTNIQK
NTNTRDTSKKTKDQLIIDAGQKHFGATVCKSCGMIYTASNPEDEMQHVQHHHRFLEGIKY
VGWKKERVVAEFWDGKIVLVLPHDPSFAIKKVEDVQELVDNELGFQQVVPKCPNKIKTFL
FISDEKRVVGCLIAEPIKQAFRVLSEPIGPESPSSTECPRAWQCSDVPEPAVCGISRIWV
FRLKRRKRIARRLVDTLRNCFMFGCFLSTDEIAFSDPTPDGKLFATKYCNTPNFLVYNFN
S

Sequence length

601

Interactions

View interactions

	KEGG		Reactome
	Cell cycle		Establishment of Sister Chromatid Cohesion

280

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ESCO2-related disorder	Pathogenic	rs80359852, rs80359846	RCV003398414 RCV003407350
Juberg-Hayward syndrome	Pathogenic; Likely pathogenic	rs991672013, rs1804790650, rs768055962, rs2128951191, rs959080745, rs2128951110, rs80359848, rs80359849, rs80359852, rs1413591962, rs797045566, rs1208433027, rs2486628509, rs1262117826, rs80359859 View all (10 more)	RCV001328531 RCV005051412 RCV005040465 RCV005042571 RCV005042697 RCV005042489 RCV004555894 RCV005041968 RCV005041969 RCV005045260 RCV005049471 RCV005047434 RCV005047716 RCV005047785 RCV005042068 RCV005049382 RCV005042069 RCV002476996 RCV005042070 RCV005042071 RCV005049383 RCV005042072 RCV002482893 RCV005042073 RCV005040048
Roberts-SC phocomelia syndrome	Pathogenic; Likely pathogenic	rs991672013, rs1804790650, rs1804892169, rs768055962, rs1225195349, rs750842366, rs2128957692, rs2128951191, rs959080745, rs2128951110, rs80359848, rs80359868, rs80359849, rs1554554098, rs80359852 View all (30 more)	RCV005040191 RCV005051412 RCV005624481 RCV005040465 RCV005624483 RCV005624484 RCV005624494 RCV005042571 RCV005042697 RCV005042489 RCV004555894 RCV005624273 RCV005041968 RCV005624275 RCV005041969 RCV005624277 RCV005624278 RCV005624501 RCV005045260 RCV005624343 RCV005049471 RCV005624506 RCV005047434 RCV005624513 RCV005047716 RCV005047785 RCV005624289 RCV005042068 RCV005049382 RCV005624292 RCV005042069 RCV005624296 RCV002476996 RCV005042070 RCV005042071 RCV005049383 RCV005624302 RCV005624303 RCV005624304 RCV005624305 RCV005624306 RCV005624307 RCV002482893 RCV005624309 RCV005624445 RCV005624446 RCV005040048

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Hereditary breast ovarian cancer syndrome	Conflicting classifications of pathogenicity	rs115144373	RCV001374520
Nonpapillary renal cell carcinoma	Uncertain significance	rs201354290	RCV005895879
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs780447242, rs1052492	RCV005925736 RCV005901881

Show/Hide Text Mining Associations (24)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	19110721, 30947698, 32883354
Carcinoma Renal Cell	Stimulate	31944408
Carcinoma Renal Cell	Associate	35258173
Carcinoma Squamous Cell	Associate	29749538
Cerebrovascular Disorders	Associate	37002187
Colorectal Neoplasms	Associate	35484177, 37715994
Cysts	Associate	37002187
De Lange Syndrome	Associate	17273969, 34989322, 35736360
Degloving Injuries	Associate	38013320
Diabetes Mellitus Type 1	Associate	36477008
Ectromelia	Associate	16380922, 17273969
Growth Disorders	Associate	35736360
Hemoglobin SC Disease	Associate	16380922
Hypoxia	Associate	24696491
Intellectual Disability	Associate	35736360
Isotretinoin embryopathy like syndrome	Associate	34989322
Leukoencephalopathies	Associate	37002187
Melanoma	Associate	17611626
Neoplasms	Associate	31944408, 39527939
Neoplastic Syndromes Hereditary	Associate	30947698
Roberts Syndrome	Associate	16380922, 17273969, 19738907, 26193234, 34989322, 35093090, 35736360, 37002187
Teratogenesis	Associate	31388035
Tetraphocomelia Thrombocytopenia Syndrome	Associate	16380922
Urinary Bladder Neoplasms	Associate	39527939

ESCO2 (establishment of sister chromatid cohesion N-acetyltransferase 2)