SUV39H1 (SUV39H1 histone lysine methyltransferase)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 6839
• Gene name: SUV39H1 histone lysine methyltransferase
• Gene symbol: SUV39H1
• Synonyms (NCBI Gene): H3-K9-HMTase 1, KMT1A, MG44, SUV39H
• Chromosome: X
• Chromosome location: Xp11.23
• Summary: This gene encodes an evolutionarily-conserved protein containing an N-terminal chromodomain and a C-terminal SET domain. The encoded protein is a histone methyltransferase that trimethylates lysine 9 of histone H3, which results in transcriptional gene si

miRNA Show/Hide all (265)

miRTarBase ID	miRNA	Experiments	Reference
MIRT027407	hsa-miR-98-5p	Microarray	19088304
MIRT043442	hsa-miR-331-3p	CLASH	23622248
MIRT040438	hsa-miR-615-3p	CLASH	23622248
MIRT455178	hsa-miR-4519	PAR-CLIP	23592263
MIRT455177	hsa-miR-4779	PAR-CLIP	23592263
MIRT455176	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT455175	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT455174	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT455173	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT455172	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT455171	hsa-miR-1296-3p	PAR-CLIP	23592263
MIRT455170	hsa-miR-4459	PAR-CLIP	23592263
MIRT455169	hsa-miR-194-3p	PAR-CLIP	23592263
MIRT455168	hsa-miR-196b-3p	PAR-CLIP	23592263
MIRT455167	hsa-miR-3616-3p	PAR-CLIP	23592263
MIRT455166	hsa-miR-3689d	PAR-CLIP	23592263
MIRT455165	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT455164	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT455163	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT455162	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT455161	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT455160	hsa-miR-5698	PAR-CLIP	23592263
MIRT455159	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT455158	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT455157	hsa-miR-4525	PAR-CLIP	23592263
MIRT455156	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT455155	hsa-miR-4447	PAR-CLIP	23592263
MIRT455154	hsa-miR-4472	PAR-CLIP	23592263
MIRT455153	hsa-miR-4666b	PAR-CLIP	23592263
MIRT455152	hsa-miR-1275	PAR-CLIP	23592263
MIRT455151	hsa-miR-4665-5p	PAR-CLIP	23592263
MIRT455178	hsa-miR-4519	PAR-CLIP	23592263
MIRT455177	hsa-miR-4779	PAR-CLIP	23592263
MIRT455176	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT455175	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT455174	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT455173	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT455172	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT455171	hsa-miR-1296-3p	PAR-CLIP	23592263
MIRT455170	hsa-miR-4459	PAR-CLIP	23592263
MIRT455169	hsa-miR-194-3p	PAR-CLIP	23592263
MIRT455168	hsa-miR-196b-3p	PAR-CLIP	23592263
MIRT455167	hsa-miR-3616-3p	PAR-CLIP	23592263
MIRT455166	hsa-miR-3689d	PAR-CLIP	23592263
MIRT455165	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT455164	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT455163	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT455162	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT455161	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT455160	hsa-miR-5698	PAR-CLIP	23592263
MIRT455159	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT455158	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT455157	hsa-miR-4525	PAR-CLIP	23592263
MIRT455156	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT455155	hsa-miR-4447	PAR-CLIP	23592263
MIRT455154	hsa-miR-4472	PAR-CLIP	23592263
MIRT455153	hsa-miR-4666b	PAR-CLIP	23592263
MIRT455152	hsa-miR-1275	PAR-CLIP	23592263
MIRT455151	hsa-miR-4665-5p	PAR-CLIP	23592263
MIRT1404117	hsa-miR-103a	CLIP-seq
MIRT1404118	hsa-miR-107	CLIP-seq
MIRT1404119	hsa-miR-1184	CLIP-seq
MIRT1404120	hsa-miR-1254	CLIP-seq
MIRT1404121	hsa-miR-125a-5p	CLIP-seq
MIRT1404122	hsa-miR-125b	CLIP-seq
MIRT1404123	hsa-miR-1289	CLIP-seq
MIRT1404124	hsa-miR-1302	CLIP-seq
MIRT1404125	hsa-miR-130a	CLIP-seq
MIRT1404126	hsa-miR-130b	CLIP-seq
MIRT1404127	hsa-miR-153	CLIP-seq
MIRT1404128	hsa-miR-1910	CLIP-seq
MIRT1404129	hsa-miR-19a	CLIP-seq
MIRT1404130	hsa-miR-19b	CLIP-seq
MIRT1404131	hsa-miR-296-3p	CLIP-seq
MIRT1404132	hsa-miR-298	CLIP-seq
MIRT1404133	hsa-miR-301a	CLIP-seq
MIRT1404134	hsa-miR-301b	CLIP-seq
MIRT1404135	hsa-miR-302a	CLIP-seq
MIRT1404136	hsa-miR-302b	CLIP-seq
MIRT1404137	hsa-miR-302c	CLIP-seq
MIRT1404138	hsa-miR-302d	CLIP-seq
MIRT1404139	hsa-miR-302e	CLIP-seq
MIRT1404140	hsa-miR-3116	CLIP-seq
MIRT1404141	hsa-miR-3126-3p	CLIP-seq
MIRT1404142	hsa-miR-3128	CLIP-seq
MIRT1404143	hsa-miR-3153	CLIP-seq
MIRT1404144	hsa-miR-3177-5p	CLIP-seq
MIRT1404145	hsa-miR-3184	CLIP-seq
MIRT1404146	hsa-miR-3185	CLIP-seq
MIRT1404147	hsa-miR-3198	CLIP-seq
MIRT1404148	hsa-miR-3665	CLIP-seq
MIRT1404149	hsa-miR-3666	CLIP-seq
MIRT1404150	hsa-miR-3675-5p	CLIP-seq
MIRT1404151	hsa-miR-3690	CLIP-seq
MIRT1404152	hsa-miR-372	CLIP-seq
MIRT1404153	hsa-miR-373	CLIP-seq
MIRT1404154	hsa-miR-376c	CLIP-seq
MIRT1404155	hsa-miR-3922-5p	CLIP-seq
MIRT1404156	hsa-miR-3925-3p	CLIP-seq
MIRT1404157	hsa-miR-3945	CLIP-seq
MIRT1404158	hsa-miR-423-5p	CLIP-seq
MIRT1404159	hsa-miR-4254	CLIP-seq
MIRT1404160	hsa-miR-4283	CLIP-seq
MIRT1404161	hsa-miR-4294	CLIP-seq
MIRT1404162	hsa-miR-4295	CLIP-seq
MIRT1404163	hsa-miR-4298	CLIP-seq
MIRT1404164	hsa-miR-4309	CLIP-seq
MIRT1404165	hsa-miR-4319	CLIP-seq
MIRT1404166	hsa-miR-4324	CLIP-seq
MIRT1404167	hsa-miR-4329	CLIP-seq
MIRT1404168	hsa-miR-4474-5p	CLIP-seq
MIRT1404169	hsa-miR-4489	CLIP-seq
MIRT1404170	hsa-miR-4492	CLIP-seq
MIRT1404171	hsa-miR-4498	CLIP-seq
MIRT1404172	hsa-miR-4505	CLIP-seq
MIRT1404173	hsa-miR-4514	CLIP-seq
MIRT1404174	hsa-miR-454	CLIP-seq
MIRT1404175	hsa-miR-455-3p	CLIP-seq
MIRT1404176	hsa-miR-4642	CLIP-seq
MIRT1404177	hsa-miR-4645-5p	CLIP-seq
MIRT1404178	hsa-miR-4652-5p	CLIP-seq
MIRT1404179	hsa-miR-4667-5p	CLIP-seq
MIRT1404180	hsa-miR-4673	CLIP-seq
MIRT1404181	hsa-miR-4688	CLIP-seq
MIRT1404182	hsa-miR-4690-5p	CLIP-seq
MIRT1404183	hsa-miR-4692	CLIP-seq
MIRT1404184	hsa-miR-4695-5p	CLIP-seq
MIRT1404185	hsa-miR-4700-5p	CLIP-seq
MIRT1404186	hsa-miR-4720-5p	CLIP-seq
MIRT1404187	hsa-miR-4732-3p	CLIP-seq
MIRT1404188	hsa-miR-4761-3p	CLIP-seq
MIRT1404189	hsa-miR-4785	CLIP-seq
MIRT1404190	hsa-miR-4789-3p	CLIP-seq
MIRT1404191	hsa-miR-4799-3p	CLIP-seq
MIRT1404192	hsa-miR-498	CLIP-seq
MIRT1404193	hsa-miR-508-5p	CLIP-seq
MIRT1404194	hsa-miR-519a	CLIP-seq
MIRT1404195	hsa-miR-519b-3p	CLIP-seq
MIRT1404196	hsa-miR-519c-3p	CLIP-seq
MIRT1404197	hsa-miR-520a-3p	CLIP-seq
MIRT1404198	hsa-miR-520b	CLIP-seq
MIRT1404199	hsa-miR-520c-3p	CLIP-seq
MIRT1404200	hsa-miR-520d-3p	CLIP-seq
MIRT1404201	hsa-miR-520e	CLIP-seq
MIRT1404202	hsa-miR-579	CLIP-seq
MIRT1404203	hsa-miR-637	CLIP-seq
MIRT1404204	hsa-miR-642b	CLIP-seq
MIRT1404205	hsa-miR-661	CLIP-seq
MIRT1404206	hsa-miR-670	CLIP-seq
MIRT1404207	hsa-miR-762	CLIP-seq
MIRT1404208	hsa-miR-764	CLIP-seq
MIRT1404209	hsa-miR-766	CLIP-seq
MIRT1404210	hsa-miR-922	CLIP-seq
MIRT1404148	hsa-miR-3665	CLIP-seq
MIRT2121261	hsa-miR-1291	CLIP-seq
MIRT2121262	hsa-miR-197	CLIP-seq
MIRT2121263	hsa-miR-2355-3p	CLIP-seq
MIRT2121264	hsa-miR-2355-5p	CLIP-seq
MIRT1404135	hsa-miR-302a	CLIP-seq
MIRT1404136	hsa-miR-302b	CLIP-seq
MIRT1404137	hsa-miR-302c	CLIP-seq
MIRT1404138	hsa-miR-302d	CLIP-seq
MIRT1404139	hsa-miR-302e	CLIP-seq
MIRT2121265	hsa-miR-34a	CLIP-seq
MIRT2121266	hsa-miR-34c-5p	CLIP-seq
MIRT2121267	hsa-miR-3655	CLIP-seq
MIRT2121268	hsa-miR-3674	CLIP-seq
MIRT2121269	hsa-miR-3714	CLIP-seq
MIRT1404152	hsa-miR-372	CLIP-seq
MIRT1404153	hsa-miR-373	CLIP-seq
MIRT2121270	hsa-miR-3921	CLIP-seq
MIRT1404159	hsa-miR-4254	CLIP-seq
MIRT2121271	hsa-miR-4260	CLIP-seq
MIRT2121272	hsa-miR-4267	CLIP-seq
MIRT2121273	hsa-miR-4481	CLIP-seq
MIRT2121274	hsa-miR-449a	CLIP-seq
MIRT2121275	hsa-miR-449b	CLIP-seq
MIRT1404176	hsa-miR-4642	CLIP-seq
MIRT1404177	hsa-miR-4645-5p	CLIP-seq
MIRT2121276	hsa-miR-4651	CLIP-seq
MIRT2121277	hsa-miR-4653-5p	CLIP-seq
MIRT1404180	hsa-miR-4673	CLIP-seq
MIRT2121278	hsa-miR-4682	CLIP-seq
MIRT2121279	hsa-miR-4708-3p	CLIP-seq
MIRT1404186	hsa-miR-4720-5p	CLIP-seq
MIRT2121280	hsa-miR-4745-5p	CLIP-seq
MIRT2121281	hsa-miR-4758-5p	CLIP-seq
MIRT2121282	hsa-miR-4777-5p	CLIP-seq
MIRT2121283	hsa-miR-4788	CLIP-seq
MIRT1404191	hsa-miR-4799-3p	CLIP-seq
MIRT2121284	hsa-miR-486-3p	CLIP-seq
MIRT1404193	hsa-miR-508-5p	CLIP-seq
MIRT2121285	hsa-miR-516a-5p	CLIP-seq
MIRT1404194	hsa-miR-519a	CLIP-seq
MIRT1404195	hsa-miR-519b-3p	CLIP-seq
MIRT1404196	hsa-miR-519c-3p	CLIP-seq
MIRT1404197	hsa-miR-520a-3p	CLIP-seq
MIRT1404198	hsa-miR-520b	CLIP-seq
MIRT1404199	hsa-miR-520c-3p	CLIP-seq
MIRT1404200	hsa-miR-520d-3p	CLIP-seq
MIRT2121286	hsa-miR-520d-5p	CLIP-seq
MIRT1404201	hsa-miR-520e	CLIP-seq
MIRT2121287	hsa-miR-524-5p	CLIP-seq
MIRT2121288	hsa-miR-561	CLIP-seq
MIRT2121289	hsa-miR-578	CLIP-seq
MIRT1404202	hsa-miR-579	CLIP-seq
MIRT2121290	hsa-miR-608	CLIP-seq
MIRT2121291	hsa-miR-625	CLIP-seq
MIRT2121292	hsa-miR-659	CLIP-seq
MIRT2121293	hsa-miR-676	CLIP-seq
MIRT2121294	hsa-miR-939	CLIP-seq
MIRT2343177	hsa-miR-1912	CLIP-seq
MIRT2343178	hsa-miR-3130-5p	CLIP-seq
MIRT1404143	hsa-miR-3153	CLIP-seq
MIRT1404148	hsa-miR-3665	CLIP-seq
MIRT2121270	hsa-miR-3921	CLIP-seq
MIRT2343179	hsa-miR-425	CLIP-seq
MIRT1404159	hsa-miR-4254	CLIP-seq
MIRT2121272	hsa-miR-4267	CLIP-seq
MIRT2121273	hsa-miR-4481	CLIP-seq
MIRT2343180	hsa-miR-4482	CLIP-seq
MIRT1404177	hsa-miR-4645-5p	CLIP-seq
MIRT2121277	hsa-miR-4653-5p	CLIP-seq
MIRT1404180	hsa-miR-4673	CLIP-seq
MIRT2121278	hsa-miR-4682	CLIP-seq
MIRT2343181	hsa-miR-4736	CLIP-seq
MIRT2121280	hsa-miR-4745-5p	CLIP-seq
MIRT2121281	hsa-miR-4758-5p	CLIP-seq
MIRT2121282	hsa-miR-4777-5p	CLIP-seq
MIRT2121284	hsa-miR-486-3p	CLIP-seq
MIRT2121285	hsa-miR-516a-5p	CLIP-seq
MIRT1404208	hsa-miR-764	CLIP-seq
MIRT2343177	hsa-miR-1912	CLIP-seq
MIRT2343178	hsa-miR-3130-5p	CLIP-seq
MIRT2395438	hsa-miR-3605-3p	CLIP-seq
MIRT1404148	hsa-miR-3665	CLIP-seq
MIRT1404157	hsa-miR-3945	CLIP-seq
MIRT2343180	hsa-miR-4482	CLIP-seq
MIRT1404176	hsa-miR-4642	CLIP-seq
MIRT1404186	hsa-miR-4720-5p	CLIP-seq
MIRT1404191	hsa-miR-4799-3p	CLIP-seq
MIRT2460840	hsa-miR-296-5p	CLIP-seq
MIRT2460841	hsa-miR-3127-5p	CLIP-seq
MIRT2460842	hsa-miR-3918	CLIP-seq
MIRT2343179	hsa-miR-425	CLIP-seq
MIRT2460843	hsa-miR-4726-3p	CLIP-seq
MIRT2637014	hsa-miR-1285	CLIP-seq
MIRT1404141	hsa-miR-3126-3p	CLIP-seq
MIRT1404142	hsa-miR-3128	CLIP-seq
MIRT2637015	hsa-miR-3187-5p	CLIP-seq
MIRT2637016	hsa-miR-326	CLIP-seq
MIRT2637017	hsa-miR-330-5p	CLIP-seq
MIRT1404154	hsa-miR-376c	CLIP-seq
MIRT2637018	hsa-miR-378g	CLIP-seq
MIRT1404157	hsa-miR-3945	CLIP-seq
MIRT2637019	hsa-miR-4486	CLIP-seq
MIRT1404176	hsa-miR-4642	CLIP-seq
MIRT1404181	hsa-miR-4688	CLIP-seq
MIRT1404182	hsa-miR-4690-5p	CLIP-seq
MIRT1404186	hsa-miR-4720-5p	CLIP-seq
MIRT1404188	hsa-miR-4761-3p	CLIP-seq
MIRT1404190	hsa-miR-4789-3p	CLIP-seq
MIRT1404191	hsa-miR-4799-3p	CLIP-seq
MIRT2637020	hsa-miR-612	CLIP-seq
MIRT1404204	hsa-miR-642b	CLIP-seq

Gene ontology (GO) Show/Hide all (73)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	21402781
GO:0000183	Process	RDNA heterochromatin formation	IDA	18485871
GO:0000183	Process	RDNA heterochromatin formation	IMP	18485871
GO:0000183	Process	RDNA heterochromatin formation	TAS
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000792	Component	Heterochromatin	IDA	18004385
GO:0000792	Component	Heterochromatin	IEA
GO:0000794	Component	Condensed nuclear chromosome	TAS	10202156
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000976	Function	Transcription cis-regulatory region binding	ISS
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
GO:0001835	Process	Blastocyst hatching	IEA
GO:0003682	Function	Chromatin binding	TAS	10202156
GO:0005515	Function	Protein binding	IPI	10949293, 12711603, 16189514, 17245431, 18004385, 18485871, 19218236, 20562864, 21516116, 23455924, 24981860, 25416956, 25931448, 27705803, 28514442, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	30111536
GO:0005634	Component	Nucleus	IDA	18004385
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	10949293
GO:0005652	Component	Nuclear lamina	IEA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005677	Component	Chromatin silencing complex	IDA	18485871
GO:0005677	Component	Chromatin silencing complex	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005730	Component	Nucleolus	IDA	18485871
GO:0005886	Component	Plasma membrane	IEA
GO:0006282	Process	Regulation of DNA repair	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006325	Process	Chromatin organization	TAS	10949293
GO:0006364	Process	RRNA processing	IEA
GO:0006974	Process	DNA damage response	IDA	23509280
GO:0007623	Process	Circadian rhythm	IEA
GO:0007623	Process	Circadian rhythm	ISS
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0008757	Function	S-adenosylmethionine-dependent methyltransferase activity	IDA	10949293
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030500	Process	Regulation of bone mineralization	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031507	Process	Heterochromatin formation	IEA
GO:0032259	Process	Methylation	IEA
GO:0033553	Component	RDNA heterochromatin	IDA	18485871
GO:0040014	Process	Regulation of multicellular organism growth	IEA
GO:0042054	Function	Histone methyltransferase activity	IDA	10949293, 17707234
GO:0042054	Function	Histone methyltransferase activity	IEA
GO:0042149	Process	Cellular response to glucose starvation	IMP	18485871
GO:0044725	Process	Epigenetic programming in the zygotic pronuclei	IDA	30111536
GO:0044725	Process	Epigenetic programming in the zygotic pronuclei	IEA
GO:0045786	Process	Negative regulation of cell cycle	IMP	18485871
GO:0045814	Process	Negative regulation of gene expression, epigenetic	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IMP	18485871
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0046015	Process	Regulation of transcription by glucose	IMP	18485871
GO:0046872	Function	Metal ion binding	IEA
GO:0046974	Function	Histone H3K9 methyltransferase activity	EXP	18485871
GO:0046974	Function	Histone H3K9 methyltransferase activity	IBA
GO:0046974	Function	Histone H3K9 methyltransferase activity	IDA	10949293, 18004385, 23509280
GO:0046974	Function	Histone H3K9 methyltransferase activity	IEA
GO:0048511	Process	Rhythmic process	IEA
GO:0061773	Component	ENoSc complex	IPI	18485871
GO:0071456	Process	Cellular response to hypoxia	IDA	21402781
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:0097009	Process	Energy homeostasis	IMP	18485871
GO:0140938	Function	Histone H3 methyltransferase activity	TAS
GO:0140947	Function	Histone H3K9me2 methyltransferase activity	IEA
GO:0140949	Function	Histone H3K9 trimethyltransferase activity	IDA	30111536
GO:0140949	Function	Histone H3K9 trimethyltransferase activity	IEA
GO:2000772	Process	Regulation of cellular senescence	IEA

Other IDs

• MIM: 300254
• HGNC: 11479
• e!Ensembl: ENSG00000101945

Protein

• UniProt ID: O43463
• Protein name: Histone-lysine N-methyltransferase SUV39H1 (EC 2.1.1.355) (Histone H3-K9 methyltransferase 1) (H3-K9-HMTase 1) (Lysine N-methyltransferase 1A) (Position-effect variegation 3-9 homolog) (Suppressor of variegation 3-9 homolog 1) (Su(var)3-9 homolog 1)
• Protein function: Histone methyltransferase that specifically trimethylates 'Lys-9' of histone H3 using monomethylated H3 'Lys-9' as substrate. Also weakly methylates histone H1 (in vitro). H3 'Lys-9' trimethylation represents a specific tag for epigenetic transc
• PDB: 3MTS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00385	Chromo	43 → 92	Chromo (CHRromatin Organisation MOdifier) domain	Domain
  PF00856	SET	255 → 366	SET domain	Family
  PF05033	Pre-SET	136 → 235	Pre-SET motif	Family

• Sequence:

  MAENLKGCSVCCKSSWNQLQDLCRLAKLSCPALGISKRNLYDFEVEYLCDYKKIREQEYY
  LVKWRGYPDSESTWEPRQNLKCVRILKQFHKDLERELLRRHHRSKTPRHLDPSLANYLVQ
  KAKQRRALRRWEQELNAKRSHLGRITVENEVDLDGPPRAFVYINEYRVGEGITLNQVAVG
  CECQDCLWAPTGGCCPGASLHKFAYNDQGQVRLRAGLPIYECNSRCRCGYDCPNRVVQKG
  IRYDLCIFRTDDGRGWGVRTLEKIRKNSFVMEYVGEIITSEEAERRGQIYDRQGATYLFD
  LDYVEDVYTVDAAYYGNISHFVNHSCDPNLQVYNVFIDNLDERLPRIAFFATRTIRAGEE
  LTFDYNMQVDPVDMESTRMDSNFGLAGLPGSPKKRVRIECKCGTESCRKYLF

• Sequence length: 412

Pathways

KEGG Pathway	Reactome Pathway
Lysine degradation	PKMTs methylate histone lysines
Metabolic pathways	SIRT1 negatively regulates rRNA expression

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Ependymoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (79)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	BEFREE	21493592		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	34296393	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	21192791	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	28765327		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	28946550		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	28946550	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12789259, 22562246, 23934277		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22562246, 33099470	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	29307797	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	38017386	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	28765327		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	26568301, 31579968		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	30772380		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	28833505		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28425504		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	30610059		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	30610059		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17657744		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	17657744		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	29535452		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30190170		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	30190170, 31737059		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	30857550	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	30190170		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	31736204		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31736204		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	21896933		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	28852907		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	37887281	Associate	★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	BEFREE	23705022		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	25602259, 28946550, 38011799	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28623138, 28946550		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	38017386	Stimulate	★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	38017386	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	19208907		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	36149194	Associate	★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	24501407		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	16449642, 23400519	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	23400519		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	25978433	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22991213, 24844570		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	21192791		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	36536372	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	21192791		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	21192791		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	21192791		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12789259, 22562246, 23934277		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	26568301, 31579968		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28459432		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30117667		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	28765327		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21493592, 28765327, 30470836		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	30610059		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	22199269		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29750576		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	35768432	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	18446223	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	23579270		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28361889		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	28271186		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21493592, 23705022, 24844570, 28765327, 30610059, 31776268		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30305431		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29535452		★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	BEFREE	22512277		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	24501407	Inhibit	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28459432		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	22330138		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33066102, 36149194, 37934007	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	34598691	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	17578512, 29750576		★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	24501407	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	31337422	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	30900087		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24737085, 30117667		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	28129645	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	26546619		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	37889057	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	30772380	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	29077881		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

SETD2 2 shared pathwaysLysine degradation, PKMTs methylate histone lysines Related via 2 shared pathways including Lysine degradation, PKMTs methylate histone lysines. KMT5B 2 shared pathwaysLysine degradation, PKMTs methylate histone lysines Related via 2 shared pathways including Lysine degradation, PKMTs methylate histone lysines. NSD3 2 shared pathwaysLysine degradation, PKMTs methylate histone lysines Related via 2 shared pathways including Lysine degradation, PKMTs methylate histone lysines. ASH1L 2 shared pathwaysLysine degradation, PKMTs methylate histone lysines Related via 2 shared pathways including Lysine degradation, PKMTs methylate histone lysines. PRDM9 2 shared pathwaysLysine degradation, PKMTs methylate histone lysines Related via 2 shared pathways including Lysine degradation, PKMTs methylate histone lysines.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
SETD2	0	[]	2	["Lysine degradation","PKMTs methylate histone lysines"]	0	[]
KMT5B	0	[]	2	["Lysine degradation","PKMTs methylate histone lysines"]	0	[]
NSD3	0	[]	2	["Lysine degradation","PKMTs methylate histone lysines"]	0	[]
ASH1L	0	[]	2	["Lysine degradation","PKMTs methylate histone lysines"]	0	[]
PRDM9	0	[]	2	["Lysine degradation","PKMTs methylate histone lysines"]	0	[]

Diseases Linked via Similar Genes

Intellectual developmental disorder Linked via 3 of 5 related genesSETD2, KMT5B, ASH1L Neurodevelopmental disorder Linked via 3 of 5 related genesSETD2, KMT5B, ASH1L Autism Linked via 2 of 5 related genesSETD2, KMT5B Prostatic neoplasms Linked via 2 of 5 related genesSETD2, ASH1L Alzheimer disease Linked via 2 of 5 related genesKMT5B, PRDM9

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Intellectual developmental disorder	3	["SETD2","KMT5B","ASH1L"]
Neurodevelopmental disorder	3	["SETD2","KMT5B","ASH1L"]
Autism	2	["SETD2","KMT5B"]
Prostatic neoplasms	2	["SETD2","ASH1L"]
Alzheimer disease	2	["KMT5B","PRDM9"]