RNF40 (ring finger protein 40)

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

Gene

• Entrez ID: 9810
• Gene name: Ring finger protein 40
• Gene symbol: RNF40
• Synonyms (NCBI Gene): BRE1B, RBP95, STARING
• Chromosome: 16
• Chromosome location: 16p11.2
• Summary: The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein was reported to interact with the tumor suppressor protein RB1. Studies of the rat counterpart suggested th

miRNA Show/Hide all (306)

miRTarBase ID	miRNA	Experiments	Reference
MIRT025228	hsa-miR-34a-5p	Proteomics	21566225
MIRT025228	hsa-miR-34a-5p	Proteomics	21566225
MIRT032413	hsa-let-7b-5p	Proteomics	18668040
MIRT049341	hsa-miR-92a-3p	CLASH	23622248
MIRT049341	hsa-miR-92a-3p	CLASH	23622248
MIRT045027	hsa-miR-186-5p	CLASH	23622248
MIRT045027	hsa-miR-186-5p	CLASH	23622248
MIRT043403	hsa-miR-331-3p	CLASH	23622248
MIRT043403	hsa-miR-331-3p	CLASH	23622248
MIRT039167	hsa-miR-769-5p	CLASH	23622248
MIRT036354	hsa-miR-1229-3p	CLASH	23622248
MIRT682992	hsa-miR-6761-3p	HITS-CLIP	19536157
MIRT682991	hsa-miR-4707-3p	HITS-CLIP	19536157
MIRT682993	hsa-miR-1226-3p	HITS-CLIP	23706177
MIRT682992	hsa-miR-6761-3p	HITS-CLIP	23706177
MIRT682991	hsa-miR-4707-3p	HITS-CLIP	23706177
MIRT682992	hsa-miR-6761-3p	HITS-CLIP	19536157
MIRT682991	hsa-miR-4707-3p	HITS-CLIP	19536157
MIRT682993	hsa-miR-1226-3p	HITS-CLIP	23706177
MIRT682992	hsa-miR-6761-3p	HITS-CLIP	23706177
MIRT682991	hsa-miR-4707-3p	HITS-CLIP	23706177
MIRT1312913	hsa-miR-1271	CLIP-seq
MIRT1312914	hsa-miR-129-3p	CLIP-seq
MIRT1312915	hsa-miR-205	CLIP-seq
MIRT1312916	hsa-miR-3157-5p	CLIP-seq
MIRT1312917	hsa-miR-335	CLIP-seq
MIRT1312918	hsa-miR-4690-3p	CLIP-seq
MIRT1312919	hsa-miR-96	CLIP-seq
MIRT1312920	hsa-miR-103a	CLIP-seq
MIRT1312921	hsa-miR-107	CLIP-seq
MIRT1312922	hsa-miR-1180	CLIP-seq
MIRT1312923	hsa-miR-1183	CLIP-seq
MIRT1312924	hsa-miR-1184	CLIP-seq
MIRT1312925	hsa-miR-1207-5p	CLIP-seq
MIRT1312926	hsa-miR-1225-3p	CLIP-seq
MIRT1312927	hsa-miR-1228	CLIP-seq
MIRT1312928	hsa-miR-1233	CLIP-seq
MIRT1312929	hsa-miR-1251	CLIP-seq
MIRT1312930	hsa-miR-1258	CLIP-seq
MIRT1312931	hsa-miR-1265	CLIP-seq
MIRT1312932	hsa-miR-1284	CLIP-seq
MIRT1312933	hsa-miR-1296	CLIP-seq
MIRT1312934	hsa-miR-1301	CLIP-seq
MIRT1312935	hsa-miR-1324	CLIP-seq
MIRT1312936	hsa-miR-134	CLIP-seq
MIRT1312937	hsa-miR-1343	CLIP-seq
MIRT1312938	hsa-miR-1915	CLIP-seq
MIRT1312939	hsa-miR-2276	CLIP-seq
MIRT1312940	hsa-miR-2392	CLIP-seq
MIRT1312941	hsa-miR-28-3p	CLIP-seq
MIRT1312942	hsa-miR-2909	CLIP-seq
MIRT1312943	hsa-miR-296-3p	CLIP-seq
MIRT1312944	hsa-miR-300	CLIP-seq
MIRT1312945	hsa-miR-3065-3p	CLIP-seq
MIRT1312946	hsa-miR-3118	CLIP-seq
MIRT1312947	hsa-miR-3151	CLIP-seq
MIRT1312948	hsa-miR-3155	CLIP-seq
MIRT1312949	hsa-miR-3155b	CLIP-seq
MIRT1312950	hsa-miR-324-5p	CLIP-seq
MIRT1312951	hsa-miR-342-3p	CLIP-seq
MIRT1312952	hsa-miR-342-5p	CLIP-seq
MIRT1312953	hsa-miR-3661	CLIP-seq
MIRT1312954	hsa-miR-3675-3p	CLIP-seq
MIRT1312955	hsa-miR-3682-3p	CLIP-seq
MIRT1312956	hsa-miR-3684	CLIP-seq
MIRT1312957	hsa-miR-381	CLIP-seq
MIRT1312958	hsa-miR-3915	CLIP-seq
MIRT1312959	hsa-miR-3928	CLIP-seq
MIRT1312960	hsa-miR-4284	CLIP-seq
MIRT1312961	hsa-miR-4290	CLIP-seq
MIRT1312962	hsa-miR-4291	CLIP-seq
MIRT1312963	hsa-miR-4301	CLIP-seq
MIRT1312964	hsa-miR-4418	CLIP-seq
MIRT1312965	hsa-miR-4476	CLIP-seq
MIRT1312966	hsa-miR-4497	CLIP-seq
MIRT1312967	hsa-miR-4502	CLIP-seq
MIRT1312968	hsa-miR-4512	CLIP-seq
MIRT1312969	hsa-miR-4640-5p	CLIP-seq
MIRT1312970	hsa-miR-4646-5p	CLIP-seq
MIRT1312971	hsa-miR-4651	CLIP-seq
MIRT1312972	hsa-miR-4660	CLIP-seq
MIRT1312973	hsa-miR-4664-3p	CLIP-seq
MIRT1312974	hsa-miR-4664-5p	CLIP-seq
MIRT1312975	hsa-miR-4666-3p	CLIP-seq
MIRT1312976	hsa-miR-4687-5p	CLIP-seq
MIRT1312977	hsa-miR-4696	CLIP-seq
MIRT1312978	hsa-miR-4703-3p	CLIP-seq
MIRT1312979	hsa-miR-4717-5p	CLIP-seq
MIRT1312980	hsa-miR-4726-3p	CLIP-seq
MIRT1312981	hsa-miR-4726-5p	CLIP-seq
MIRT1312982	hsa-miR-4733-3p	CLIP-seq
MIRT1312983	hsa-miR-4753-5p	CLIP-seq
MIRT1312984	hsa-miR-4763-3p	CLIP-seq
MIRT1312985	hsa-miR-4773	CLIP-seq
MIRT1312986	hsa-miR-4781-3p	CLIP-seq
MIRT1312987	hsa-miR-484	CLIP-seq
MIRT1312988	hsa-miR-485-5p	CLIP-seq
MIRT1312989	hsa-miR-491-5p	CLIP-seq
MIRT1312990	hsa-miR-501-3p	CLIP-seq
MIRT1312991	hsa-miR-502-3p	CLIP-seq
MIRT1312992	hsa-miR-5047	CLIP-seq
MIRT1312993	hsa-miR-509-3-5p	CLIP-seq
MIRT1312994	hsa-miR-509-5p	CLIP-seq
MIRT1312995	hsa-miR-608	CLIP-seq
MIRT1312996	hsa-miR-631	CLIP-seq
MIRT1312997	hsa-miR-647	CLIP-seq
MIRT1312998	hsa-miR-651	CLIP-seq
MIRT1312999	hsa-miR-659	CLIP-seq
MIRT1313000	hsa-miR-664	CLIP-seq
MIRT1313001	hsa-miR-767-5p	CLIP-seq
MIRT1313002	hsa-miR-887	CLIP-seq
MIRT1313003	hsa-miR-1266	CLIP-seq
MIRT1313004	hsa-miR-1285	CLIP-seq
MIRT1313005	hsa-miR-1972	CLIP-seq
MIRT1313006	hsa-miR-3187-5p	CLIP-seq
MIRT1313007	hsa-miR-3194-3p	CLIP-seq
MIRT1313008	hsa-miR-326	CLIP-seq
MIRT1313009	hsa-miR-330-5p	CLIP-seq
MIRT1313010	hsa-miR-3664-3p	CLIP-seq
MIRT1313011	hsa-miR-378g	CLIP-seq
MIRT1313012	hsa-miR-423-3p	CLIP-seq
MIRT1313013	hsa-miR-4268	CLIP-seq
MIRT1313014	hsa-miR-4437	CLIP-seq
MIRT1313015	hsa-miR-4486	CLIP-seq
MIRT1313016	hsa-miR-4518	CLIP-seq
MIRT1313017	hsa-miR-4650-5p	CLIP-seq
MIRT1313018	hsa-miR-4674	CLIP-seq
MIRT1313019	hsa-miR-4757-5p	CLIP-seq
MIRT1313020	hsa-miR-612	CLIP-seq
MIRT1312922	hsa-miR-1180	CLIP-seq
MIRT1312924	hsa-miR-1184	CLIP-seq
MIRT1312934	hsa-miR-1301	CLIP-seq
MIRT1312936	hsa-miR-134	CLIP-seq
MIRT1312937	hsa-miR-1343	CLIP-seq
MIRT1313005	hsa-miR-1972	CLIP-seq
MIRT2093088	hsa-miR-198	CLIP-seq
MIRT1312939	hsa-miR-2276	CLIP-seq
MIRT2093089	hsa-miR-24	CLIP-seq
MIRT1312946	hsa-miR-3118	CLIP-seq
MIRT2093090	hsa-miR-3137	CLIP-seq
MIRT1312947	hsa-miR-3151	CLIP-seq
MIRT1312952	hsa-miR-342-5p	CLIP-seq
MIRT2093091	hsa-miR-34a	CLIP-seq
MIRT2093092	hsa-miR-34c-5p	CLIP-seq
MIRT2093093	hsa-miR-3650	CLIP-seq
MIRT2093094	hsa-miR-3686	CLIP-seq
MIRT2093095	hsa-miR-371b-3p	CLIP-seq
MIRT1312958	hsa-miR-3915	CLIP-seq
MIRT1312959	hsa-miR-3928	CLIP-seq
MIRT2093096	hsa-miR-3929	CLIP-seq
MIRT2093097	hsa-miR-4256	CLIP-seq
MIRT2093098	hsa-miR-4264	CLIP-seq
MIRT1312960	hsa-miR-4284	CLIP-seq
MIRT2093099	hsa-miR-4313	CLIP-seq
MIRT2093100	hsa-miR-4419b	CLIP-seq
MIRT2093101	hsa-miR-4436a	CLIP-seq
MIRT2093102	hsa-miR-4436b-3p	CLIP-seq
MIRT2093103	hsa-miR-4444	CLIP-seq
MIRT2093104	hsa-miR-4471	CLIP-seq
MIRT1312965	hsa-miR-4476	CLIP-seq
MIRT2093105	hsa-miR-4478	CLIP-seq
MIRT1312966	hsa-miR-4497	CLIP-seq
MIRT2093106	hsa-miR-449a	CLIP-seq
MIRT2093107	hsa-miR-449b	CLIP-seq
MIRT1312970	hsa-miR-4646-5p	CLIP-seq
MIRT1312971	hsa-miR-4651	CLIP-seq
MIRT2093108	hsa-miR-4652-3p	CLIP-seq
MIRT1312972	hsa-miR-4660	CLIP-seq
MIRT1312973	hsa-miR-4664-3p	CLIP-seq
MIRT1312974	hsa-miR-4664-5p	CLIP-seq
MIRT2093109	hsa-miR-4667-3p	CLIP-seq
MIRT2093110	hsa-miR-4685-5p	CLIP-seq
MIRT1312977	hsa-miR-4696	CLIP-seq
MIRT2093111	hsa-miR-4700-3p	CLIP-seq
MIRT2093112	hsa-miR-4704-3p	CLIP-seq
MIRT2093113	hsa-miR-4761-3p	CLIP-seq
MIRT2093114	hsa-miR-4761-5p	CLIP-seq
MIRT1312989	hsa-miR-491-5p	CLIP-seq
MIRT1312992	hsa-miR-5047	CLIP-seq
MIRT2093115	hsa-miR-579	CLIP-seq
MIRT1312995	hsa-miR-608	CLIP-seq
MIRT2093116	hsa-miR-645	CLIP-seq
MIRT1312997	hsa-miR-647	CLIP-seq
MIRT1312998	hsa-miR-651	CLIP-seq
MIRT1312924	hsa-miR-1184	CLIP-seq
MIRT1312924	hsa-miR-1184	CLIP-seq
MIRT1312925	hsa-miR-1207-5p	CLIP-seq
MIRT1312929	hsa-miR-1251	CLIP-seq
MIRT1312913	hsa-miR-1271	CLIP-seq
MIRT1312932	hsa-miR-1284	CLIP-seq
MIRT1312934	hsa-miR-1301	CLIP-seq
MIRT1312939	hsa-miR-2276	CLIP-seq
MIRT2317618	hsa-miR-2682	CLIP-seq
MIRT1312941	hsa-miR-28-3p	CLIP-seq
MIRT1312944	hsa-miR-300	CLIP-seq
MIRT2317619	hsa-miR-3130-5p	CLIP-seq
MIRT1312917	hsa-miR-335	CLIP-seq
MIRT1312954	hsa-miR-3675-3p	CLIP-seq
MIRT1312957	hsa-miR-381	CLIP-seq
MIRT2317620	hsa-miR-4270	CLIP-seq
MIRT2317621	hsa-miR-4441	CLIP-seq
MIRT2317622	hsa-miR-4482	CLIP-seq
MIRT2317623	hsa-miR-449c	CLIP-seq
MIRT1312972	hsa-miR-4660	CLIP-seq
MIRT1312975	hsa-miR-4666-3p	CLIP-seq
MIRT2093110	hsa-miR-4685-5p	CLIP-seq
MIRT1312977	hsa-miR-4696	CLIP-seq
MIRT1312982	hsa-miR-4733-3p	CLIP-seq
MIRT1312984	hsa-miR-4763-3p	CLIP-seq
MIRT1312985	hsa-miR-4773	CLIP-seq
MIRT1312988	hsa-miR-485-5p	CLIP-seq
MIRT1312992	hsa-miR-5047	CLIP-seq
MIRT2317624	hsa-miR-711	CLIP-seq
MIRT2317625	hsa-miR-936	CLIP-seq
MIRT2317626	hsa-miR-940	CLIP-seq
MIRT1312919	hsa-miR-96	CLIP-seq
MIRT1312922	hsa-miR-1180	CLIP-seq
MIRT1313003	hsa-miR-1266	CLIP-seq
MIRT1313004	hsa-miR-1285	CLIP-seq
MIRT1312933	hsa-miR-1296	CLIP-seq
MIRT1313005	hsa-miR-1972	CLIP-seq
MIRT1312942	hsa-miR-2909	CLIP-seq
MIRT2613454	hsa-miR-302a	CLIP-seq
MIRT2613455	hsa-miR-302b	CLIP-seq
MIRT2613456	hsa-miR-302c	CLIP-seq
MIRT2613457	hsa-miR-302d	CLIP-seq
MIRT2613458	hsa-miR-302e	CLIP-seq
MIRT1313006	hsa-miR-3187-5p	CLIP-seq
MIRT1313007	hsa-miR-3194-3p	CLIP-seq
MIRT1313008	hsa-miR-326	CLIP-seq
MIRT1313009	hsa-miR-330-5p	CLIP-seq
MIRT1313010	hsa-miR-3664-3p	CLIP-seq
MIRT2613459	hsa-miR-372	CLIP-seq
MIRT2613460	hsa-miR-373	CLIP-seq
MIRT1313011	hsa-miR-378g	CLIP-seq
MIRT2093098	hsa-miR-4264	CLIP-seq
MIRT1313013	hsa-miR-4268	CLIP-seq
MIRT2613461	hsa-miR-4269	CLIP-seq
MIRT1313014	hsa-miR-4437	CLIP-seq
MIRT1313015	hsa-miR-4486	CLIP-seq
MIRT1312966	hsa-miR-4497	CLIP-seq
MIRT1312968	hsa-miR-4512	CLIP-seq
MIRT2613462	hsa-miR-4514	CLIP-seq
MIRT1313016	hsa-miR-4518	CLIP-seq
MIRT1312969	hsa-miR-4640-5p	CLIP-seq
MIRT1313017	hsa-miR-4650-5p	CLIP-seq
MIRT1312973	hsa-miR-4664-3p	CLIP-seq
MIRT1313018	hsa-miR-4674	CLIP-seq
MIRT2613463	hsa-miR-4692	CLIP-seq
MIRT2093112	hsa-miR-4704-3p	CLIP-seq
MIRT1312981	hsa-miR-4726-5p	CLIP-seq
MIRT2613464	hsa-miR-4742-5p	CLIP-seq
MIRT1313019	hsa-miR-4757-5p	CLIP-seq
MIRT2613465	hsa-miR-520a-3p	CLIP-seq
MIRT2613466	hsa-miR-520b	CLIP-seq
MIRT2613467	hsa-miR-520c-3p	CLIP-seq
MIRT2613468	hsa-miR-520d-3p	CLIP-seq
MIRT2613469	hsa-miR-520e	CLIP-seq
MIRT1313020	hsa-miR-612	CLIP-seq
MIRT1312922	hsa-miR-1180	CLIP-seq
MIRT1313003	hsa-miR-1266	CLIP-seq
MIRT1313004	hsa-miR-1285	CLIP-seq
MIRT1312933	hsa-miR-1296	CLIP-seq
MIRT1313005	hsa-miR-1972	CLIP-seq
MIRT1312942	hsa-miR-2909	CLIP-seq
MIRT2613454	hsa-miR-302a	CLIP-seq
MIRT2613455	hsa-miR-302b	CLIP-seq
MIRT2613456	hsa-miR-302c	CLIP-seq
MIRT2613457	hsa-miR-302d	CLIP-seq
MIRT2613458	hsa-miR-302e	CLIP-seq
MIRT1313006	hsa-miR-3187-5p	CLIP-seq
MIRT1313007	hsa-miR-3194-3p	CLIP-seq
MIRT1313008	hsa-miR-326	CLIP-seq
MIRT1313009	hsa-miR-330-5p	CLIP-seq
MIRT1313010	hsa-miR-3664-3p	CLIP-seq
MIRT2613459	hsa-miR-372	CLIP-seq
MIRT2613460	hsa-miR-373	CLIP-seq
MIRT1313011	hsa-miR-378g	CLIP-seq
MIRT2093096	hsa-miR-3929	CLIP-seq
MIRT2093098	hsa-miR-4264	CLIP-seq
MIRT1313013	hsa-miR-4268	CLIP-seq
MIRT2613461	hsa-miR-4269	CLIP-seq
MIRT2093100	hsa-miR-4419b	CLIP-seq
MIRT1313014	hsa-miR-4437	CLIP-seq
MIRT2093105	hsa-miR-4478	CLIP-seq
MIRT1313015	hsa-miR-4486	CLIP-seq
MIRT1312966	hsa-miR-4497	CLIP-seq
MIRT1312968	hsa-miR-4512	CLIP-seq
MIRT2613462	hsa-miR-4514	CLIP-seq
MIRT1313016	hsa-miR-4518	CLIP-seq
MIRT1312969	hsa-miR-4640-5p	CLIP-seq
MIRT1313017	hsa-miR-4650-5p	CLIP-seq
MIRT1312973	hsa-miR-4664-3p	CLIP-seq
MIRT1313018	hsa-miR-4674	CLIP-seq
MIRT2613463	hsa-miR-4692	CLIP-seq
MIRT2093112	hsa-miR-4704-3p	CLIP-seq
MIRT1312981	hsa-miR-4726-5p	CLIP-seq
MIRT2613464	hsa-miR-4742-5p	CLIP-seq
MIRT1313019	hsa-miR-4757-5p	CLIP-seq
MIRT2613465	hsa-miR-520a-3p	CLIP-seq
MIRT2613466	hsa-miR-520b	CLIP-seq
MIRT2613467	hsa-miR-520c-3p	CLIP-seq
MIRT2613468	hsa-miR-520d-3p	CLIP-seq
MIRT2613469	hsa-miR-520e	CLIP-seq
MIRT1313020	hsa-miR-612	CLIP-seq
MIRT2093116	hsa-miR-645	CLIP-seq

Gene ontology (GO) Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000151	Component	Ubiquitin ligase complex	IDA	16307923
GO:0003730	Function	MRNA 3'-UTR binding	IDA	19575011
GO:0003730	Function	MRNA 3'-UTR binding	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	16307923
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0005515	Function	Protein binding	IPI	10944455, 16189514, 16307923, 17500595, 19410543, 21329877, 25416956, 26871637, 31413325, 32296183, 32814053, 33961781, 35271311
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	10944455, 16307923
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006325	Process	Chromatin organization	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	ISS
GO:0007346	Process	Regulation of mitotic cell cycle	IMP	19575011
GO:0008270	Function	Zinc ion binding	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	16307923
GO:0033503	Component	HULC complex	IBA
GO:0033503	Component	HULC complex	IDA	19410543
GO:0033503	Component	HULC complex	IEA
GO:0042803	Function	Protein homodimerization activity	IPI	10944455
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	16307923
GO:0046872	Function	Metal ion binding	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IEA

Other IDs

• MIM: 607700
• HGNC: 16867
• e!Ensembl: ENSG00000103549

Protein

• UniProt ID: O75150
• Protein name: E3 ubiquitin-protein ligase BRE1B (BRE1-B) (EC 2.3.2.27) (95 kDa retinoblastoma-associated protein) (RBP95) (RING finger protein 40) (RING-type E3 ubiquitin transferase BRE1B)
• Protein function: Component of the RNF20/40 E3 ubiquitin-protein ligase complex that mediates monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1). H2BK120ub1 gives a specific tag for epigenetic transcriptional activation and is also prerequisite for histo
• PDB: 8GUI , 8GUJ , 8IEJ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13920	zf-C3HC4_3	944 → 991		Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed. Expressed at higher level in testis, heart and pancreas, while it is only weakly expressed in lung, skeletal muscle and small intestine. {ECO:0000269|PubMed:10944455}.
• Sequence:

  MSGPGNKRAAGDGGSGPPEKKLSREEKTTTTLIEPIRLGGISSTEEMDLKVLQFKNKKLA
  ERLEQRQACEDELRERIEKLEKRQATDDATLLIVNRYWAQLDETVEALLRCHESQGELSS
  APEAPGTQEGPTCDGTPLPEPGTSELRDPLLMQLRPPLSEPALAFVVALGASSSEEVELE
  LQGRMEFSKAAVSRVVEASDRLQRRVEELCQRVYSRGDSEPLSEAAQAHTRELGRENRRL
  QDLATQLQEKHHRISLEYSELQDKVTSAETKVLEMETTVEDLQWDIEKLRKREQKLNKHL
  AEALEQLNSGYYVSGSSSGFQGGQITLSMQKFEMLNAELEENQELANSRMAELEKLQAEL
  QGAVRTNERLKVALRSLPEEVVRETGEYRMLQAQFSLLYNESLQVKTQLDEARGLLLATK
  NSHLRHIEHMESDELGLQKKLRTEVIQLEDTLAQVRKEYEMLRIEFEQNLAANEQAGPIN
  REMRHLISSLQNHNHQLKGDAQRYKRKLREVQAEIGKLRAQASGSAHSTPNLGHPEDSGV
  SAPAPGKEEGGPGPVSTPDNRKEMAPVPGTTTTTTSVKKEELVPSEEDFQGITPGAQGPS
  SRGREPEARPKRELREREGPSLGPPPVASALSRADREKAKVEETKRKESELLKGLRAELK
  KAQESQKEMKLLLDMYKSAPKEQRDKVQLMAAERKAKAEVDELRSRIRELEERDRRESKK
  IADEDALRRIRQAEEQIEHLQRKLGATKQEEEALLSEMDVTGQAFEDMQEQNGRLLQQLR
  EKDDANFKLMSERIKANQIHKLLREEKDELGEQVLGLKSQVDAQLLTVQKLEEKERALQG
  SLGGVEKELTLRSQALELNKRKAVEAAQLAEDLKVQLEHVQTRLREIQPCLAESRAAREK
  ESFNLKRAQEDISRLRRKLEKQRKVEVYADADEILQEEIKEYKARLTCPCCNTRKKDAVL
  TKCFHVFCFECVRGRYEARQRKCPKCNAAFGAHDFHRIYIS

• Sequence length: 1001

Pathways

Reactome Pathway:

E3 ubiquitin ligases ubiquitinate target proteins

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
ATRIAL FIBRILLATION	—	GWAS catalog	40645996	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	ClinGen, Disgenet, GenCC ClinGen, Disgenet, GenCC	28991257, 31235600	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (18)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autistic Disorder	Autism	BEFREE	21647175		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	21647175	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37770435	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	30321325		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30321325, 31266541		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31266541	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22155569		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26854224		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	28157208		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28157208, 29934362		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	9765217		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	35303054	Stimulate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37345659	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22155569		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	11394910, 11433396, 17970062, 9765217		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	21647175		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	21647175	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	37770435	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

FMO5 1 shared diseaseCongenital heart disease 2 shared evidence sourcesDisgenet (Congenital heart disease), ClinGen (Congenital heart disease) Related via 1 shared disease including Congenital heart disease — evidence mostly Disgenet. CHRD 1 shared diseaseCongenital heart disease 2 shared evidence sourcesDisgenet (Congenital heart disease), ClinGen (Congenital heart disease) Related via 1 shared disease including Congenital heart disease — evidence mostly Disgenet. MESP1 1 shared diseaseCongenital heart disease 2 shared evidence sourcesDisgenet (Congenital heart disease), ClinGen (Congenital heart disease) Related via 1 shared disease including Congenital heart disease — evidence mostly Disgenet. OSR1 1 shared diseaseCongenital heart disease 2 shared evidence sourcesDisgenet (Congenital heart disease), ClinGen (Congenital heart disease) Related via 1 shared disease including Congenital heart disease — evidence mostly Disgenet. RAI2 1 shared diseaseCongenital heart disease 2 shared evidence sourcesDisgenet (Congenital heart disease), ClinGen (Congenital heart disease) Related via 1 shared disease including Congenital heart disease — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
FMO5	1	["Congenital heart disease"]	0	[]	2	["Disgenet (Congenital heart disease)","ClinGen (Congenital heart disease)"]
CHRD	1	["Congenital heart disease"]	0	[]	2	["Disgenet (Congenital heart disease)","ClinGen (Congenital heart disease)"]
MESP1	1	["Congenital heart disease"]	0	[]	2	["Disgenet (Congenital heart disease)","ClinGen (Congenital heart disease)"]
OSR1	1	["Congenital heart disease"]	0	[]	2	["Disgenet (Congenital heart disease)","ClinGen (Congenital heart disease)"]
RAI2	1	["Congenital heart disease"]	0	[]	2	["Disgenet (Congenital heart disease)","ClinGen (Congenital heart disease)"]

Diseases Linked via Similar Genes

Diabetes mellitus type 2 Linked via 1 of 5 related genesFMO5 Myocardial infarction Linked via 1 of 5 related genesMESP1 Nasopharyngeal neoplasms Linked via 1 of 5 related genesOSR1 Dextrocardia Linked via 1 of 5 related genesRAI2

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Diabetes mellitus type 2	1	["FMO5"]
Myocardial infarction	1	["MESP1"]
Nasopharyngeal neoplasms	1	["OSR1"]
Dextrocardia	1	["RAI2"]