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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	22954
Gene name	Tripartite motif containing 32
Gene symbol	TRIM32
Synonyms (NCBI Gene)	BBS11HT2ALGMD2HLGMDR8TATIP
Chromosome	9
Chromosome location	9q33.1
Summary	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. The p

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miRTarBase ID	miRNA	Experiments	Reference
MIRT001492	hsa-miR-155-5p	pSILAC	18668040
MIRT001492	hsa-miR-155-5p	Proteomics;Other	18668040
MIRT031385	hsa-miR-16-5p	Proteomics	18668040
MIRT001492	hsa-miR-155-5p	MicroarrayqRT-PCR	25128227
MIRT001492	hsa-miR-155-5p	MicroarrayqRT-PCR	25128227
MIRT227329	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT001492	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT227326	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT227329	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT001492	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT227325	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT227331	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT227327	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT227333	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT227326	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT001492	hsa-miR-155-5p	ChIP-seqLuciferase reporter assayWestern blot	26497687
MIRT227326	hsa-miR-20a-5p	Luciferase reporter assayWestern blottingqRT-PCR	32319789
MIRT1453805	hsa-miR-1224-5p	CLIP-seq
MIRT1453806	hsa-miR-3915	CLIP-seq
MIRT1453807	hsa-miR-3928	CLIP-seq
MIRT1453808	hsa-miR-4426	CLIP-seq
MIRT1453809	hsa-miR-4534	CLIP-seq
MIRT1453810	hsa-miR-4647	CLIP-seq
MIRT1453811	hsa-miR-4662b	CLIP-seq
MIRT1453812	hsa-miR-4689	CLIP-seq
MIRT1453813	hsa-miR-495	CLIP-seq
MIRT1453814	hsa-miR-548ac	CLIP-seq
MIRT1453815	hsa-miR-548ae	CLIP-seq
MIRT1453816	hsa-miR-548aj	CLIP-seq
MIRT1453817	hsa-miR-548am	CLIP-seq
MIRT1453818	hsa-miR-548d-3p	CLIP-seq
MIRT1453819	hsa-miR-548x	CLIP-seq
MIRT1453820	hsa-miR-548z	CLIP-seq
MIRT1453821	hsa-miR-570	CLIP-seq
MIRT1453822	hsa-miR-1273e	CLIP-seq
MIRT1453823	hsa-miR-3123	CLIP-seq
MIRT1453824	hsa-miR-3688-3p	CLIP-seq
MIRT1453825	hsa-miR-3925-5p	CLIP-seq
MIRT1453826	hsa-miR-3976	CLIP-seq
MIRT1453827	hsa-miR-3978	CLIP-seq
MIRT1453828	hsa-miR-4490	CLIP-seq
MIRT1453829	hsa-miR-4694-3p	CLIP-seq
MIRT1453830	hsa-miR-485-3p	CLIP-seq
MIRT1453831	hsa-miR-539	CLIP-seq
MIRT1453832	hsa-miR-548u	CLIP-seq
MIRT2136099	hsa-miR-1245b-3p	CLIP-seq
MIRT2136100	hsa-miR-1252	CLIP-seq
MIRT2136101	hsa-miR-4261	CLIP-seq
MIRT2136102	hsa-miR-4420	CLIP-seq
MIRT2136103	hsa-miR-4468	CLIP-seq
MIRT2136104	hsa-miR-4476	CLIP-seq
MIRT2136105	hsa-miR-4496	CLIP-seq
MIRT2136106	hsa-miR-4528	CLIP-seq
MIRT2136107	hsa-miR-4533	CLIP-seq
MIRT2136108	hsa-miR-4766-5p	CLIP-seq
MIRT2136109	hsa-miR-488	CLIP-seq
MIRT2136110	hsa-miR-668	CLIP-seq
MIRT2357087	hsa-miR-3591-3p	CLIP-seq
MIRT2136102	hsa-miR-4420	CLIP-seq
MIRT2136103	hsa-miR-4468	CLIP-seq
MIRT2136108	hsa-miR-4766-5p	CLIP-seq
MIRT2136109	hsa-miR-488	CLIP-seq
MIRT2136110	hsa-miR-668	CLIP-seq
MIRT2136106	hsa-miR-4528	CLIP-seq
MIRT2136108	hsa-miR-4766-5p	CLIP-seq
MIRT1453805	hsa-miR-1224-5p	CLIP-seq
MIRT2136099	hsa-miR-1245b-3p	CLIP-seq
MIRT2136100	hsa-miR-1252	CLIP-seq
MIRT2650673	hsa-miR-1272	CLIP-seq
MIRT2650674	hsa-miR-128	CLIP-seq
MIRT2650675	hsa-miR-1322	CLIP-seq
MIRT2650676	hsa-miR-148a	CLIP-seq
MIRT2650677	hsa-miR-148b	CLIP-seq
MIRT2650678	hsa-miR-152	CLIP-seq
MIRT2650679	hsa-miR-183	CLIP-seq
MIRT2650680	hsa-miR-2115	CLIP-seq
MIRT2650681	hsa-miR-2276	CLIP-seq
MIRT2650682	hsa-miR-2964a-5p	CLIP-seq
MIRT2650683	hsa-miR-3156-3p	CLIP-seq
MIRT2650684	hsa-miR-3158-3p	CLIP-seq
MIRT2650685	hsa-miR-320a	CLIP-seq
MIRT2650686	hsa-miR-320b	CLIP-seq
MIRT2650687	hsa-miR-320c	CLIP-seq
MIRT2650688	hsa-miR-320d	CLIP-seq
MIRT2650689	hsa-miR-335	CLIP-seq
MIRT2650690	hsa-miR-34a	CLIP-seq
MIRT2650691	hsa-miR-34c-5p	CLIP-seq
MIRT2357087	hsa-miR-3591-3p	CLIP-seq
MIRT2650692	hsa-miR-3647-3p	CLIP-seq
MIRT2650693	hsa-miR-3657	CLIP-seq
MIRT1453806	hsa-miR-3915	CLIP-seq
MIRT1453807	hsa-miR-3928	CLIP-seq
MIRT2650694	hsa-miR-409-3p	CLIP-seq
MIRT2650695	hsa-miR-4301	CLIP-seq
MIRT2136102	hsa-miR-4420	CLIP-seq
MIRT1453808	hsa-miR-4426	CLIP-seq
MIRT2650696	hsa-miR-4429	CLIP-seq
MIRT2650697	hsa-miR-4436b-5p	CLIP-seq
MIRT2136103	hsa-miR-4468	CLIP-seq
MIRT2136104	hsa-miR-4476	CLIP-seq
MIRT2136105	hsa-miR-4496	CLIP-seq
MIRT2650698	hsa-miR-449a	CLIP-seq
MIRT2650699	hsa-miR-449b	CLIP-seq
MIRT2650700	hsa-miR-4509	CLIP-seq
MIRT2650701	hsa-miR-4517	CLIP-seq
MIRT2136106	hsa-miR-4528	CLIP-seq
MIRT2136107	hsa-miR-4533	CLIP-seq
MIRT1453809	hsa-miR-4534	CLIP-seq
MIRT2650702	hsa-miR-4633-3p	CLIP-seq
MIRT2650703	hsa-miR-4645-5p	CLIP-seq
MIRT1453810	hsa-miR-4647	CLIP-seq
MIRT1453811	hsa-miR-4662b	CLIP-seq
MIRT2650704	hsa-miR-4669	CLIP-seq
MIRT2650705	hsa-miR-4673	CLIP-seq
MIRT2650706	hsa-miR-4681	CLIP-seq
MIRT1453812	hsa-miR-4689	CLIP-seq
MIRT2650707	hsa-miR-4691-5p	CLIP-seq
MIRT2650708	hsa-miR-4706	CLIP-seq
MIRT2650709	hsa-miR-4716-3p	CLIP-seq
MIRT2650710	hsa-miR-4728-5p	CLIP-seq
MIRT2650711	hsa-miR-4747-5p	CLIP-seq
MIRT2650712	hsa-miR-4749-5p	CLIP-seq
MIRT2136108	hsa-miR-4766-5p	CLIP-seq
MIRT2650713	hsa-miR-4772-3p	CLIP-seq
MIRT2650714	hsa-miR-4781-5p	CLIP-seq
MIRT2650715	hsa-miR-4799-5p	CLIP-seq
MIRT2136109	hsa-miR-488	CLIP-seq
MIRT1453813	hsa-miR-495	CLIP-seq
MIRT2650716	hsa-miR-513a-3p	CLIP-seq
MIRT2650717	hsa-miR-513c	CLIP-seq
MIRT2650718	hsa-miR-514b-5p	CLIP-seq
MIRT2650719	hsa-miR-516a-3p	CLIP-seq
MIRT1453814	hsa-miR-548ac	CLIP-seq
MIRT1453815	hsa-miR-548ae	CLIP-seq
MIRT1453816	hsa-miR-548aj	CLIP-seq
MIRT1453817	hsa-miR-548am	CLIP-seq
MIRT1453818	hsa-miR-548d-3p	CLIP-seq
MIRT1453819	hsa-miR-548x	CLIP-seq
MIRT1453820	hsa-miR-548z	CLIP-seq
MIRT1453821	hsa-miR-570	CLIP-seq
MIRT2650720	hsa-miR-597	CLIP-seq
MIRT2136110	hsa-miR-668	CLIP-seq
MIRT2650721	hsa-miR-676	CLIP-seq
MIRT2650722	hsa-miR-759	CLIP-seq
MIRT1453805	hsa-miR-1224-5p	CLIP-seq
MIRT2136099	hsa-miR-1245b-3p	CLIP-seq
MIRT2136100	hsa-miR-1252	CLIP-seq
MIRT2650673	hsa-miR-1272	CLIP-seq
MIRT2650674	hsa-miR-128	CLIP-seq
MIRT2694155	hsa-miR-1291	CLIP-seq
MIRT2650675	hsa-miR-1322	CLIP-seq
MIRT2650676	hsa-miR-148a	CLIP-seq
MIRT2650677	hsa-miR-148b	CLIP-seq
MIRT2650678	hsa-miR-152	CLIP-seq
MIRT2650679	hsa-miR-183	CLIP-seq
MIRT2650680	hsa-miR-2115	CLIP-seq
MIRT2650681	hsa-miR-2276	CLIP-seq
MIRT2650682	hsa-miR-2964a-5p	CLIP-seq
MIRT2694156	hsa-miR-3127-3p	CLIP-seq
MIRT2650683	hsa-miR-3156-3p	CLIP-seq
MIRT2650684	hsa-miR-3158-3p	CLIP-seq
MIRT2694157	hsa-miR-3176	CLIP-seq
MIRT2650685	hsa-miR-320a	CLIP-seq
MIRT2650686	hsa-miR-320b	CLIP-seq
MIRT2650687	hsa-miR-320c	CLIP-seq
MIRT2650688	hsa-miR-320d	CLIP-seq
MIRT2694158	hsa-miR-328	CLIP-seq
MIRT2694159	hsa-miR-330-3p	CLIP-seq
MIRT2650689	hsa-miR-335	CLIP-seq
MIRT2650690	hsa-miR-34a	CLIP-seq
MIRT2650691	hsa-miR-34c-5p	CLIP-seq
MIRT2357087	hsa-miR-3591-3p	CLIP-seq
MIRT2694160	hsa-miR-3613-5p	CLIP-seq
MIRT2650692	hsa-miR-3647-3p	CLIP-seq
MIRT2650693	hsa-miR-3657	CLIP-seq
MIRT2694161	hsa-miR-3713	CLIP-seq
MIRT1453806	hsa-miR-3915	CLIP-seq
MIRT2694162	hsa-miR-3922-3p	CLIP-seq
MIRT1453807	hsa-miR-3928	CLIP-seq
MIRT2650694	hsa-miR-409-3p	CLIP-seq
MIRT2136101	hsa-miR-4261	CLIP-seq
MIRT2650695	hsa-miR-4301	CLIP-seq
MIRT2136102	hsa-miR-4420	CLIP-seq
MIRT1453808	hsa-miR-4426	CLIP-seq
MIRT2650696	hsa-miR-4429	CLIP-seq
MIRT2650697	hsa-miR-4436b-5p	CLIP-seq
MIRT2136103	hsa-miR-4468	CLIP-seq
MIRT2136104	hsa-miR-4476	CLIP-seq
MIRT2136105	hsa-miR-4496	CLIP-seq
MIRT2650698	hsa-miR-449a	CLIP-seq
MIRT2650699	hsa-miR-449b	CLIP-seq
MIRT2650700	hsa-miR-4509	CLIP-seq
MIRT2650701	hsa-miR-4517	CLIP-seq
MIRT2136106	hsa-miR-4528	CLIP-seq
MIRT2136107	hsa-miR-4533	CLIP-seq
MIRT1453809	hsa-miR-4534	CLIP-seq
MIRT2650702	hsa-miR-4633-3p	CLIP-seq
MIRT2650703	hsa-miR-4645-5p	CLIP-seq
MIRT1453810	hsa-miR-4647	CLIP-seq
MIRT1453811	hsa-miR-4662b	CLIP-seq
MIRT2650704	hsa-miR-4669	CLIP-seq
MIRT2694163	hsa-miR-4670-3p	CLIP-seq
MIRT2650705	hsa-miR-4673	CLIP-seq
MIRT2650706	hsa-miR-4681	CLIP-seq
MIRT1453812	hsa-miR-4689	CLIP-seq
MIRT2650707	hsa-miR-4691-5p	CLIP-seq
MIRT2650708	hsa-miR-4706	CLIP-seq
MIRT2650709	hsa-miR-4716-3p	CLIP-seq
MIRT2650710	hsa-miR-4728-5p	CLIP-seq
MIRT2650711	hsa-miR-4747-5p	CLIP-seq
MIRT2650712	hsa-miR-4749-5p	CLIP-seq
MIRT2694164	hsa-miR-4761-3p	CLIP-seq
MIRT2136108	hsa-miR-4766-5p	CLIP-seq
MIRT2650713	hsa-miR-4772-3p	CLIP-seq
MIRT2694165	hsa-miR-4781-3p	CLIP-seq
MIRT2650714	hsa-miR-4781-5p	CLIP-seq
MIRT2650715	hsa-miR-4799-5p	CLIP-seq
MIRT2136109	hsa-miR-488	CLIP-seq
MIRT1453813	hsa-miR-495	CLIP-seq
MIRT2650716	hsa-miR-513a-3p	CLIP-seq
MIRT2650717	hsa-miR-513c	CLIP-seq
MIRT2650718	hsa-miR-514b-5p	CLIP-seq
MIRT2650719	hsa-miR-516a-3p	CLIP-seq
MIRT1453814	hsa-miR-548ac	CLIP-seq
MIRT1453815	hsa-miR-548ae	CLIP-seq
MIRT1453816	hsa-miR-548aj	CLIP-seq
MIRT1453817	hsa-miR-548am	CLIP-seq
MIRT1453818	hsa-miR-548d-3p	CLIP-seq
MIRT1453819	hsa-miR-548x	CLIP-seq
MIRT1453820	hsa-miR-548z	CLIP-seq
MIRT1453821	hsa-miR-570	CLIP-seq
MIRT2694166	hsa-miR-581	CLIP-seq
MIRT2650720	hsa-miR-597	CLIP-seq
MIRT2136110	hsa-miR-668	CLIP-seq
MIRT2650721	hsa-miR-676	CLIP-seq
MIRT2650722	hsa-miR-759	CLIP-seq
MIRT2694167	hsa-miR-9	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IDA	37943659
GO:0000045	Process	Autophagosome assembly	IDA	37943659
GO:0000045	Process	Autophagosome assembly	IMP	22170151
GO:0000209	Process	Protein polyubiquitination	IDA	18632609
GO:0000209	Process	Protein polyubiquitination	IEA
GO:0000209	Process	Protein polyubiquitination	IEA
GO:0001894	Process	Tissue homeostasis	IEA
GO:0003713	Function	Transcription coactivator activity	IDA	23077300
GO:0003713	Function	Transcription coactivator activity	TAS	7778269
GO:0003723	Function	RNA binding	IEA
GO:0003723	Function	RNA binding	ISS
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	19349376
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 16713569, 16816390, 18632609, 19060904, 19349376, 19549727, 19690564, 21516116, 21903422, 22493164, 23414517, 25416956, 25910212, 26618866, 26871637, 27173435, 27229929, 28514442, 29892012, 31123703, 31515488, 32296183, 32814053, 33060197, 33961781, 35156780, 36217029
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005634	Component	Nucleus	TAS	7778269
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	19349376
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005776	Component	Autophagosome	IDA	37943659
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005813	Component	Centrosome	IDA	28498859
GO:0005829	Component	Cytosol	TAS
GO:0005863	Component	Striated muscle myosin thick filament	IEA
GO:0005863	Component	Striated muscle myosin thick filament	ISS
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IMP	19349376
GO:0006979	Process	Response to oxidative stress	IDA	37943659
GO:0007014	Process	Actin ubiquitination	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0009411	Process	Response to UV	IEA
GO:0009411	Process	Response to UV	ISS
GO:0009896	Process	Positive regulation of catabolic process	IEA
GO:0009967	Process	Positive regulation of signal transduction	IEA
GO:0010508	Process	Positive regulation of autophagy	IBA
GO:0010508	Process	Positive regulation of autophagy	IDA	31123703
GO:0010557	Process	Positive regulation of macromolecule biosynthetic process	IEA
GO:0010994	Process	Free ubiquitin chain polymerization	IDA	31123703
GO:0016567	Process	Protein ubiquitination	IDA	16816390
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0017022	Function	Myosin binding	IEA
GO:0017022	Function	Myosin binding	ISS
GO:0019725	Process	Cellular homeostasis	IEA
GO:0030307	Process	Positive regulation of cell growth	IDA	18632609
GO:0030335	Process	Positive regulation of cell migration	IDA	18632609
GO:0030674	Function	Protein-macromolecule adaptor activity	IDA	28898289
GO:0030957	Function	Tat protein binding	TAS	16175175
GO:0031369	Function	Translation initiation factor binding	IEA
GO:0031369	Function	Translation initiation factor binding	ISS
GO:0032897	Process	Negative regulation of viral transcription	IDA	18248090
GO:0033554	Process	Cellular response to stress	IDA	37943659
GO:0033554	Process	Cellular response to stress	IDA	37943659
GO:0034142	Process	Toll-like receptor 4 signaling pathway	IDA	12471095
GO:0034144	Process	Negative regulation of toll-like receptor 4 signaling pathway	IDA	28898289
GO:0034144	Process	Negative regulation of toll-like receptor 4 signaling pathway	IDA	28898289
GO:0034198	Process	Cellular response to amino acid starvation	IBA
GO:0034612	Process	Response to tumor necrosis factor	IEA
GO:0034612	Process	Response to tumor necrosis factor	ISS
GO:0042594	Process	Response to starvation	IDA	37943659
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	22493164, 25416956, 32296183
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	23077300
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	ISS
GO:0043130	Function	Ubiquitin binding	IDA	19349376
GO:0044790	Process	Suppression of viral release by host	IDA	18248090
GO:0045087	Process	Innate immune response	IDA	18248090
GO:0045087	Process	Innate immune response	TAS	16175175
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045444	Process	Fat cell differentiation	ISS
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	ISS
GO:0045732	Process	Positive regulation of protein catabolic process	IEA
GO:0045732	Process	Positive regulation of protein catabolic process	ISS
GO:0045787	Process	Positive regulation of cell cycle	IDA	18632609
GO:0045862	Process	Positive regulation of proteolysis	IDA	18632609
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0046716	Process	Muscle cell cellular homeostasis	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048147	Process	Negative regulation of fibroblast proliferation	IEA
GO:0048147	Process	Negative regulation of fibroblast proliferation	ISS
GO:0050769	Process	Positive regulation of neurogenesis	IEA
GO:0050769	Process	Positive regulation of neurogenesis	ISS
GO:0051155	Process	Positive regulation of striated muscle cell differentiation	IEA
GO:0051247	Process	Positive regulation of protein metabolic process	IEA
GO:0060271	Process	Cilium assembly	IDA	25552655
GO:0061564	Process	Axon development	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	16816390, 28498859, 31123703
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IMP	37943659
GO:0061824	Process	Cytosolic ciliogenesis	IDA	28498859
GO:0070534	Process	Protein K63-linked ubiquitination	IDA	37943659
GO:1902018	Process	Negative regulation of cilium assembly	IDA	28498859
GO:1902230	Process	Negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage	IDA	18632609
GO:1903265	Process	Positive regulation of tumor necrosis factor-mediated signaling pathway	IBA
GO:1903265	Process	Positive regulation of tumor necrosis factor-mediated signaling pathway	IEA
GO:1903883	Process	Positive regulation of interleukin-17-mediated signaling pathway	IEA
GO:1903886	Process	Positive regulation of chemokine (C-C motif) ligand 20 production	IEA
GO:1905161	Process	Protein localization to phagocytic vesicle	IDA	28898289
GO:2000147	Process	Positive regulation of cell motility	IEA
GO:2000147	Process	Positive regulation of cell motility	ISS
GO:2000786	Process	Positive regulation of autophagosome assembly	IDA	37943659

MIM	HGNC	e!Ensembl
602290	16380	ENSG00000119401

Q13049

Protein name

E3 ubiquitin-protein ligase TRIM32 (EC 2.3.2.27) (72 kDa Tat-interacting protein) (RING-type E3 ubiquitin transferase TRIM32) (Tripartite motif-containing protein 32) (Zinc finger protein HT2A)

Protein function

E3 ubiquitin ligase that plays a role in various biological processes including neural stem cell differentiation, innate immunity, inflammatory resonse and autophagy (PubMed:19349376, PubMed:31123703). Plays a role in virus-triggered induction o

PDB

2CT2 , 5FEY

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13445	zf-RING_UBOX	20 → 62	RING-type zinc-finger	Domain
PF01436	NHL	371 → 398	NHL repeat	Repeat
PF01436	NHL	469 → 496	NHL repeat	Repeat
PF01436	NHL	616 → 643	NHL repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Spleen, thymus, prostate, testis, ovary, intestine, colon and skeletal muscle. {ECO:0000269|PubMed:11822024}.

Sequence

MAAAAASHLNLDALREVLECPICMESFTEEQLRPKLLHCGHTICRQCLEKLLASSINGVR
CPFCSKITRITSLTQLTDNLTVLKIIDTAGLSEAVGLLMCRSCGRRLPRQFCRSCGLVLC
EPCREADHQPPGHCTLPVKEAAEERRRDFGEKLTRLRELMGELQRRKAALEGVSKDLQAR
YKAVLQEYGHEERRVQDELARSRKFFTGSLAEVEKSNSQVVEEQSYLLNIAEVQAVSRCD
YFLAKIKQADVALLEETADEEEPELTASLPRELTLQDVELLKVGHVGPLQIGQAVKKPRT
VNVEDSWAMEATASAASTSVTFREMDMSPEEVVASPRASPAKQRGPEAASNIQQCLFLKK
MGAKGSTPGMFNLPVSLYVTSQGEVLVADRGNYRIQVFTRKGFLKEIRRSPSGIDSFVLS
FLGADLPNLTPLSVAMNCQGLIGVTDSYDNSLKVYTLDGHCVACHRSQLSKPWGITALPS
GQFVVTDVEGGKLWCFTVDRGSGVVKYSCLCSAVRPKFVTCDAEGTVYFTQGLGLNLENR
QNEHHLEGGFSIGSVGPDGQLGRQISHFFSENEDFRCIAGMCVDARGDLIVADSSRKEIL
HFPKGGGYSVLIREGLTCPVGIALTPKGQLLVLDCWDHCIKIYSYHLRRYSTP

Sequence length

653

Interactions

View interactions

	KEGG		Reactome
	Ubiquitin mediated proteolysis		Regulation of innate immune responses to cytosolic DNA Antigen processing: Ubiquitination & Proteasome degradation

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 (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive limb-girdle muscular dystrophy	Likely pathogenic; Pathogenic	rs2491056549, rs749696299	RCV002281786 RCV003155382	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bardet-Biedl syndrome	Pathogenic; Likely pathogenic	rs2132072043, rs1180939705, rs1272966742, rs2132072315, rs2132075143, rs2132071763, rs2491060020, rs2491063488, rs111033570, rs111033571, rs1588218453, rs886044106, rs770884964, rs2491061793, rs2491058742 View all (21 more)	RCV001390764 RCV001385099 RCV001941825 RCV002007240 RCV001921635 View all (31 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl syndrome 11	Likely pathogenic; Pathogenic	rs2132072315, rs111033570, rs111033571, rs1588218453, rs2491063018, rs2491068460, rs746321506, rs759376012, rs747685252, rs1564217246, rs749696299	RCV005042586 RCV001198489 RCV000007776 RCV001198484 RCV003142233 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Limb-girdle muscular dystrophy	Likely pathogenic; Pathogenic	rs747685252	RCV000611170	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Pathogenic	rs111033570	RCV000414917	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic	rs111033570	RCV004814854	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcotubular myopathy	Pathogenic; Likely pathogenic	rs2132075382, rs2132072315, rs111033570, rs1588218453, rs2491068460, rs746321506, rs759376012, rs747685252, rs1564217246, rs747266069, rs749696299	RCV001844801 RCV005042586 RCV000007775 RCV000007777 RCV005047431 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TRIM32-related disorder	Pathogenic; Likely pathogenic	rs111033570, rs111033571, rs886044106, rs1554732623, rs759376012	RCV004748509 RCV003904817 RCV003417909 RCV003392335 RCV004748820	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (8)

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.
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H	—	ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMB-GIRDLE MUSCULAR DYSTROPHY AUTOSOMAL RECESSIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb-girdle muscular dystrophy, recessive	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUSCULAR DYSTROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial hypertrophic cardiomyopathy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRIM32-RELATED LIMB-GIRDLE MUSCULAR DYSTROPHY R8	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (113)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adult Medulloblastoma	Medulloblastoma	BEFREE	31527798		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	23469062	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	32145086	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	31234693	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	24381304	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	21832240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	24381304	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	21832240, 24381304, 31828304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	BEFREE	31828304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	CLINVAR_DG	11822024, 15786463, 21775502, 23142638		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	BEFREE	16606853, 16816390, 17994549, 19349376, 20177705, 21496629, 24500717, 25351777, 30823891		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	LHGDN	16606853		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl syndrome	Bardet-Biedl Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl syndrome 1 (disorder)	Bardet-Biedl Syndrome	GENOMICS_ENGLAND_DG	17994549		★★★★★ ★☆☆☆☆ Found in Text Mining only
BARDET-BIEDL SYNDROME 11	Bardet-Biedl Syndrome	GENOMICS_ENGLAND_DG	11822024, 16606853		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 11	Bardet-Biedl Syndrome	BEFREE	16606853, 21496629		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 11	Bardet-Biedl Syndrome	UNIPROT_DG	16606853		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 11	Bardet-Biedl Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 11	Bardet-Biedl Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	27295345		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29721043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	21628460	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30378152		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33173411	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	31527798		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	24500717		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	25351777	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of the kidney	Multicystic renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of ovary	Hypoplasia of the ovary	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	26884348		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	27720760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	21984809		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	24381304	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	27720760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Facioscapulohumeral Muscular Dystrophy 1B	Facioscapulohumeral muscular dystrophy	Pubtator	32419263	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	26884348		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	25351777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	25128227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lafora Disease	Lafora Disease	BEFREE	21798009		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	21984809		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	36102723	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Limb-girdle muscular dystrophy type 2H	Sarcotubular myopathy	BEFREE	11822024, 14578165, 15786463, 16816390, 19303295, 19349376, 19492423, 21496629, 21984809, 23142638, 25351777, 30919934		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb-girdle muscular dystrophy type 2H	Sarcotubular myopathy	GENOMICS_ENGLAND_DG	11822024, 16606853, 17994549, 30823891		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb-girdle muscular dystrophy type 2H	Sarcotubular myopathy	UNIPROT_DG	11822024, 17994549		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb-girdle muscular dystrophy type 2H	Sarcotubular myopathy	CLINVAR_DG	11822024, 15786463, 21775502		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb-girdle muscular dystrophy type 2H	Sarcotubular myopathy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb-girdle muscular dystrophy, type 2E	Limb-Girdle Muscular Dystrophy	BEFREE	10069710		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29721043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30378152, 30464531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30079558		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14578165, 28521418		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	31527798		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	30823891	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	LHGDN	11822024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	15886712, 17994549, 23142638, 26884348, 30884854, 9634523		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	17994549, 24500717, 30884854		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy	Muscular dystrophy	LHGDN	17994549		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	27295345		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	Pubtator	31309175	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	LHGDN	15786463		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Myopathy	BEFREE	21496629, 30823891		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Myopathy	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Myopathy	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasms	Neoplasms	BEFREE	18632609, 25146927, 28161066, 28521418, 30079558, 31527798		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	21984809		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	24381304, 27339877		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30464531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	17994549		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	32145086	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	14578165		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	27339877, 28508149		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	38317520	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pelvic girdle muscle atrophy	Pelvic girdle muscle atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG	16606853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	20054338, 27720760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	34267256	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	29648516, 35308900	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	30756084	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	9928235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	14578165		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	17626251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	18632609		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30079558		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30079558	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
TRIM32-related limb-girdle muscular dystrophy R8	Sarcotubular myopathy	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vacuolar myopathy	Vacuolar Myopathy	BEFREE	23142638		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vacuolar myopathy	Vacuolar myopathy	Pubtator	32419263	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner syndrome	Pubtator	34311961	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
X-Linked Emery-Dreifuss Muscular Dystrophy	Emery-Dreifuss Muscular Dystrophy, X-Linked	BEFREE	23142638		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked myopathy with excessive autophagy	Myopathy With Excessive Autophagy, X-Linked	BEFREE	23142638		★★★★★ ★☆☆☆☆ Found in Text Mining only

TRIM32 (tripartite motif containing 32)