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

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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

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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

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Transcription factor	Regulation	Reference
ZNF143	Unknown	20116366

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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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ESCO2-related disorder	Pathogenic	rs80359852, rs80359846	RCV003398414 RCV003407350	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (20 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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 View all (42 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CLEFT LIP/PALATE WITH ABNORMAL THUMBS AND MICROCEPHALY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROBERTS SYNDROME	—	CTD, GenCC, Orphanet CTD, GenCC, Orphanet CTD, GenCC, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (81)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Aortic Valve Stenosis	Aortic Valve Sclerosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	28932960, 30640053, 31246379, 31485814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19110721, 30947698, 32883354	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31944408	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35258173	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	29749538	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiac Tamponade	Cardiac Tamponade	BEFREE	29382509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	37002187	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30538563		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35484177, 37715994	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of radius	Congenital Hypoplasia Of Radius	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cornelia De Lange Syndrome	Cornelia De Lange Syndrome	BEFREE	17273969, 26206533		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
De Lange Syndrome	De lange syndrome	Pubtator	17273969, 34989322, 35736360	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	27636994		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	36477008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Flexion contracture - wrist	Flexion Contracture Of Wrist	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal Encephalocele	Frontal Encephalocele	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	35736360	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemoglobin SC Disease	Hemoglobin sc disease	Pubtator	16380922	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hip Contracture	Hip Contracture	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Horseshoe Kidney	Horseshoe Kidney	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of thumb	Hypoplasia Of Thumb	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	24696491	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	35736360	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	CTD_human_DG	28321044		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	29382509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphangioma, Cystic	Cystic hygroma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	CTD_human_DG	28321044		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29330052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18235242, 28499633		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	17611626	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Midface capillary hemangioma	Midface capillary hemangioma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29330052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	31198072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Phocomelia	Phocomelia	BEFREE	16380922, 18786550, 19574259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Phocomelia	Phocomelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Radial aplasia	Radial Aplasia	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Roberts Syndrome	Roberts syndrome	Pubtator	16380922, 17273969, 19738907, 26193234, 34989322, 35093090, 35736360, 37002187	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Roberts syndrome	Roberts Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Roberts-SC phocomelia syndrome	Roberts-SC Phocomelia Syndrome	BEFREE	15821733, 16380922, 16775838, 17273969, 18186147, 18411254, 18786550, 19574259, 19738907, 21637801, 22614755, 24098154, 26710928, 26729373, 28934466, 29084713, 29382509, 30508616 View all (3 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Roberts-SC phocomelia syndrome	Roberts-SC Phocomelia Syndrome	UNIPROT_DG	15821733		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Roberts-SC phocomelia syndrome	Roberts-SC Phocomelia Syndrome	CTD_human_DG	16380922, 18186147, 20101700		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Roberts-SC phocomelia syndrome	Roberts-SC Phocomelia Syndrome	CLINVAR_DG	18411254		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Roberts-SC phocomelia syndrome	Roberts-SC Phocomelia Syndrome	GENOMICS_ENGLAND_DG	19574259, 31192177, 495649		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29330052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Talipes Equinovalgus	Talipes Equinovalgus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetraphocomelia	Tetraphocomelia	BEFREE	16380922		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetraphocomelia	Tetraphocomelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	39527939	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

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