CHMP2B (charged multivesicular body protein 2B)

Gene

• Entrez ID: 25978
• Gene name: Charged multivesicular body protein 2B
• Gene symbol: CHMP2B
• Synonyms (NCBI Gene): ALS17, CHMP2.5, DMT1, FTDALS7, VPS2-2, VPS2B
• Chromosome: 3
• Chromosome location: 3p11.2
• Summary: This gene encodes a component of the heteromeric ESCRT-III complex (Endosomal Sorting Complex Required for Transport III) that functions in the recycling or degradation of cell surface receptors. ESCRT-III functions in the concentration and invagination o

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs63750355	C>T	Pathogenic, not-provided	Coding sequence variant, stop gained
rs63750652	G>A,C	Pathogenic, not-provided	Splice acceptor variant
rs63750653	G>T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs63751048	C>T	Pathogenic, not-provided	Coding sequence variant, stop gained
rs63751126	A>C,T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs281864934	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021402	hsa-miR-9-5p	Western blot;qRT-PCR	20362537
MIRT022727	hsa-miR-124-3p	qRT-PCR	20362537
MIRT210750	hsa-miR-181a-5p	PAR-CLIP	21572407
MIRT210751	hsa-miR-181b-5p	PAR-CLIP	21572407
MIRT210752	hsa-miR-181c-5p	PAR-CLIP	21572407
MIRT210757	hsa-miR-181d-5p	PAR-CLIP	21572407
MIRT210758	hsa-miR-4262	PAR-CLIP	21572407
MIRT210755	hsa-miR-126-5p	PAR-CLIP	21572407
MIRT558740	hsa-miR-1323	PAR-CLIP	21572407
MIRT558739	hsa-miR-548o-3p	PAR-CLIP	21572407
MIRT558738	hsa-miR-1256	PAR-CLIP	21572407
MIRT558736	hsa-miR-3924	PAR-CLIP	21572407
MIRT558737	hsa-miR-4795-3p	PAR-CLIP	21572407
MIRT210756	hsa-miR-493-5p	PAR-CLIP	21572407
MIRT513397	hsa-miR-4698	PAR-CLIP	23446348
MIRT513396	hsa-miR-16-1-3p	PAR-CLIP	23446348
MIRT513395	hsa-miR-4697-3p	PAR-CLIP	23446348
MIRT513394	hsa-miR-223-3p	PAR-CLIP	23446348
MIRT210750	hsa-miR-181a-5p	PAR-CLIP	21572407
MIRT210751	hsa-miR-181b-5p	PAR-CLIP	21572407
MIRT210752	hsa-miR-181c-5p	PAR-CLIP	21572407
MIRT210757	hsa-miR-181d-5p	PAR-CLIP	21572407
MIRT210758	hsa-miR-4262	PAR-CLIP	21572407
MIRT210755	hsa-miR-126-5p	PAR-CLIP	21572407
MIRT558740	hsa-miR-1323	PAR-CLIP	21572407
MIRT558739	hsa-miR-548o-3p	PAR-CLIP	21572407
MIRT558738	hsa-miR-1256	PAR-CLIP	21572407
MIRT558736	hsa-miR-3924	PAR-CLIP	21572407
MIRT558737	hsa-miR-4795-3p	PAR-CLIP	21572407
MIRT210756	hsa-miR-493-5p	PAR-CLIP	21572407
MIRT513397	hsa-miR-4698	PAR-CLIP	23446348
MIRT513396	hsa-miR-16-1-3p	PAR-CLIP	23446348
MIRT513395	hsa-miR-4697-3p	PAR-CLIP	23446348
MIRT513394	hsa-miR-223-3p	PAR-CLIP	23446348
MIRT890634	hsa-miR-106a	CLIP-seq
MIRT890635	hsa-miR-106b	CLIP-seq
MIRT890636	hsa-miR-1208	CLIP-seq
MIRT890637	hsa-miR-128	CLIP-seq
MIRT890638	hsa-miR-129-5p	CLIP-seq
MIRT890639	hsa-miR-142-5p	CLIP-seq
MIRT890640	hsa-miR-17	CLIP-seq
MIRT890641	hsa-miR-188-3p	CLIP-seq
MIRT890642	hsa-miR-199a-3p	CLIP-seq
MIRT890643	hsa-miR-199b-3p	CLIP-seq
MIRT890644	hsa-miR-200b	CLIP-seq
MIRT890645	hsa-miR-200c	CLIP-seq
MIRT890646	hsa-miR-208a	CLIP-seq
MIRT890647	hsa-miR-208b	CLIP-seq
MIRT890648	hsa-miR-20a	CLIP-seq
MIRT890649	hsa-miR-20b	CLIP-seq
MIRT890650	hsa-miR-223	CLIP-seq
MIRT890651	hsa-miR-27a	CLIP-seq
MIRT890652	hsa-miR-27b	CLIP-seq
MIRT890653	hsa-miR-299-5p	CLIP-seq
MIRT890654	hsa-miR-30a	CLIP-seq
MIRT890655	hsa-miR-30b	CLIP-seq
MIRT890656	hsa-miR-30c	CLIP-seq
MIRT890657	hsa-miR-30d	CLIP-seq
MIRT890658	hsa-miR-30e	CLIP-seq
MIRT890659	hsa-miR-3129-5p	CLIP-seq
MIRT890660	hsa-miR-3163	CLIP-seq
MIRT890661	hsa-miR-3171	CLIP-seq
MIRT890662	hsa-miR-340	CLIP-seq
MIRT890663	hsa-miR-3609	CLIP-seq
MIRT890664	hsa-miR-3617	CLIP-seq
MIRT890665	hsa-miR-3658	CLIP-seq
MIRT890666	hsa-miR-3662	CLIP-seq
MIRT890667	hsa-miR-3663-5p	CLIP-seq
MIRT890668	hsa-miR-374c	CLIP-seq
MIRT890669	hsa-miR-3913-3p	CLIP-seq
MIRT890670	hsa-miR-3923	CLIP-seq
MIRT890671	hsa-miR-425	CLIP-seq
MIRT890672	hsa-miR-4251	CLIP-seq
MIRT890673	hsa-miR-4272	CLIP-seq
MIRT890674	hsa-miR-429	CLIP-seq
MIRT890675	hsa-miR-4328	CLIP-seq
MIRT890676	hsa-miR-4329	CLIP-seq
MIRT890677	hsa-miR-4426	CLIP-seq
MIRT890678	hsa-miR-4475	CLIP-seq
MIRT890679	hsa-miR-4495	CLIP-seq
MIRT890680	hsa-miR-450b-5p	CLIP-seq
MIRT890681	hsa-miR-4527	CLIP-seq
MIRT890682	hsa-miR-4528	CLIP-seq
MIRT890683	hsa-miR-4540	CLIP-seq
MIRT890684	hsa-miR-4645-3p	CLIP-seq
MIRT890685	hsa-miR-4647	CLIP-seq
MIRT890686	hsa-miR-4662b	CLIP-seq
MIRT890687	hsa-miR-4666-5p	CLIP-seq
MIRT890688	hsa-miR-4717-3p	CLIP-seq
MIRT890689	hsa-miR-4738-3p	CLIP-seq
MIRT890690	hsa-miR-4775	CLIP-seq
MIRT890691	hsa-miR-4786-5p	CLIP-seq
MIRT890692	hsa-miR-4788	CLIP-seq
MIRT890693	hsa-miR-4796-3p	CLIP-seq
MIRT890694	hsa-miR-489	CLIP-seq
MIRT890695	hsa-miR-490-3p	CLIP-seq
MIRT890696	hsa-miR-499-5p	CLIP-seq
MIRT890697	hsa-miR-507	CLIP-seq
MIRT890698	hsa-miR-513a-5p	CLIP-seq
MIRT890699	hsa-miR-518a-5p	CLIP-seq
MIRT890700	hsa-miR-519d	CLIP-seq
MIRT890701	hsa-miR-522	CLIP-seq
MIRT890702	hsa-miR-527	CLIP-seq
MIRT890703	hsa-miR-532-3p	CLIP-seq
MIRT890704	hsa-miR-548ah	CLIP-seq
MIRT890705	hsa-miR-548g	CLIP-seq
MIRT890706	hsa-miR-550b	CLIP-seq
MIRT890707	hsa-miR-554	CLIP-seq
MIRT890708	hsa-miR-557	CLIP-seq
MIRT890709	hsa-miR-570	CLIP-seq
MIRT890710	hsa-miR-579	CLIP-seq
MIRT890711	hsa-miR-590-3p	CLIP-seq
MIRT890712	hsa-miR-641	CLIP-seq
MIRT890713	hsa-miR-655	CLIP-seq
MIRT890714	hsa-miR-769-5p	CLIP-seq
MIRT890715	hsa-miR-892a	CLIP-seq
MIRT890716	hsa-miR-93	CLIP-seq
MIRT1964012	hsa-miR-1202	CLIP-seq
MIRT1964013	hsa-miR-205	CLIP-seq
MIRT1964014	hsa-miR-218	CLIP-seq
MIRT890653	hsa-miR-299-5p	CLIP-seq
MIRT1964015	hsa-miR-3194-5p	CLIP-seq
MIRT1964016	hsa-miR-3972	CLIP-seq
MIRT1964017	hsa-miR-466	CLIP-seq
MIRT1964018	hsa-miR-4727-5p	CLIP-seq
MIRT1964019	hsa-miR-4769-3p	CLIP-seq
MIRT1964020	hsa-miR-4793-3p	CLIP-seq
MIRT1964021	hsa-miR-544	CLIP-seq
MIRT890710	hsa-miR-579	CLIP-seq
MIRT1964022	hsa-miR-636	CLIP-seq
MIRT1964023	hsa-miR-944	CLIP-seq
MIRT2200170	hsa-miR-1265	CLIP-seq
MIRT2200171	hsa-miR-1273d	CLIP-seq
MIRT890638	hsa-miR-129-5p	CLIP-seq
MIRT2200172	hsa-miR-1298	CLIP-seq
MIRT2200173	hsa-miR-145	CLIP-seq
MIRT890641	hsa-miR-188-3p	CLIP-seq
MIRT890644	hsa-miR-200b	CLIP-seq
MIRT890645	hsa-miR-200c	CLIP-seq
MIRT1964014	hsa-miR-218	CLIP-seq
MIRT890650	hsa-miR-223	CLIP-seq
MIRT2200174	hsa-miR-2392	CLIP-seq
MIRT890653	hsa-miR-299-5p	CLIP-seq
MIRT890654	hsa-miR-30a	CLIP-seq
MIRT890655	hsa-miR-30b	CLIP-seq
MIRT890656	hsa-miR-30c	CLIP-seq
MIRT890657	hsa-miR-30d	CLIP-seq
MIRT890658	hsa-miR-30e	CLIP-seq
MIRT2200175	hsa-miR-3130-3p	CLIP-seq
MIRT2200176	hsa-miR-3152-3p	CLIP-seq
MIRT2200177	hsa-miR-34b	CLIP-seq
MIRT890668	hsa-miR-374c	CLIP-seq
MIRT2200178	hsa-miR-3908	CLIP-seq
MIRT2200179	hsa-miR-3925-3p	CLIP-seq
MIRT2200180	hsa-miR-3942-5p	CLIP-seq
MIRT2200181	hsa-miR-4279	CLIP-seq
MIRT2200182	hsa-miR-4289	CLIP-seq
MIRT890674	hsa-miR-429	CLIP-seq
MIRT890675	hsa-miR-4328	CLIP-seq
MIRT890679	hsa-miR-4495	CLIP-seq
MIRT890680	hsa-miR-450b-5p	CLIP-seq
MIRT2200183	hsa-miR-4643	CLIP-seq
MIRT1964017	hsa-miR-466	CLIP-seq
MIRT2200184	hsa-miR-4691-5p	CLIP-seq
MIRT2200185	hsa-miR-4703-5p	CLIP-seq
MIRT2200186	hsa-miR-4711-5p	CLIP-seq
MIRT2200187	hsa-miR-4733-5p	CLIP-seq
MIRT2200188	hsa-miR-4764-5p	CLIP-seq
MIRT2200189	hsa-miR-4766-3p	CLIP-seq
MIRT2200190	hsa-miR-4789-3p	CLIP-seq
MIRT1964020	hsa-miR-4793-3p	CLIP-seq
MIRT890695	hsa-miR-490-3p	CLIP-seq
MIRT890697	hsa-miR-507	CLIP-seq
MIRT2200191	hsa-miR-5096	CLIP-seq
MIRT2200192	hsa-miR-520d-5p	CLIP-seq
MIRT2200193	hsa-miR-524-5p	CLIP-seq
MIRT890703	hsa-miR-532-3p	CLIP-seq
MIRT890708	hsa-miR-557	CLIP-seq
MIRT890709	hsa-miR-570	CLIP-seq
MIRT2200194	hsa-miR-584	CLIP-seq
MIRT2200195	hsa-miR-616	CLIP-seq
MIRT1964022	hsa-miR-636	CLIP-seq
MIRT890713	hsa-miR-655	CLIP-seq
MIRT2200196	hsa-miR-656	CLIP-seq
MIRT2503027	hsa-miR-1227	CLIP-seq
MIRT2503028	hsa-miR-1245b-5p	CLIP-seq
MIRT2503029	hsa-miR-1271	CLIP-seq
MIRT2503030	hsa-miR-1276	CLIP-seq
MIRT2503031	hsa-miR-1295	CLIP-seq
MIRT890638	hsa-miR-129-5p	CLIP-seq
MIRT2503032	hsa-miR-1304	CLIP-seq
MIRT2503033	hsa-miR-182	CLIP-seq
MIRT2503034	hsa-miR-187	CLIP-seq
MIRT890646	hsa-miR-208a	CLIP-seq
MIRT890647	hsa-miR-208b	CLIP-seq
MIRT2503035	hsa-miR-3121-3p	CLIP-seq
MIRT2503036	hsa-miR-3142	CLIP-seq
MIRT2503037	hsa-miR-3149	CLIP-seq
MIRT2503038	hsa-miR-3168	CLIP-seq
MIRT890664	hsa-miR-3617	CLIP-seq
MIRT890665	hsa-miR-3658	CLIP-seq
MIRT890667	hsa-miR-3663-5p	CLIP-seq
MIRT2503039	hsa-miR-3941	CLIP-seq
MIRT2503040	hsa-miR-4275	CLIP-seq
MIRT2503041	hsa-miR-4277	CLIP-seq
MIRT2200182	hsa-miR-4289	CLIP-seq
MIRT2503042	hsa-miR-4311	CLIP-seq
MIRT890675	hsa-miR-4328	CLIP-seq
MIRT2503043	hsa-miR-4461	CLIP-seq
MIRT2503044	hsa-miR-4470	CLIP-seq
MIRT890680	hsa-miR-450b-5p	CLIP-seq
MIRT890681	hsa-miR-4527	CLIP-seq
MIRT2200183	hsa-miR-4643	CLIP-seq
MIRT890684	hsa-miR-4645-3p	CLIP-seq
MIRT2503045	hsa-miR-4659a-5p	CLIP-seq
MIRT2503046	hsa-miR-4659b-5p	CLIP-seq
MIRT1964017	hsa-miR-466	CLIP-seq
MIRT2503047	hsa-miR-4668-3p	CLIP-seq
MIRT2503048	hsa-miR-4672	CLIP-seq
MIRT2200186	hsa-miR-4711-5p	CLIP-seq
MIRT2503049	hsa-miR-4735-5p	CLIP-seq
MIRT2503050	hsa-miR-4747-3p	CLIP-seq
MIRT2503051	hsa-miR-4756-3p	CLIP-seq
MIRT2503052	hsa-miR-4768-5p	CLIP-seq
MIRT2503053	hsa-miR-4778-3p	CLIP-seq
MIRT890691	hsa-miR-4786-5p	CLIP-seq
MIRT2200190	hsa-miR-4789-3p	CLIP-seq
MIRT2503054	hsa-miR-4799-5p	CLIP-seq
MIRT2503055	hsa-miR-483-3p	CLIP-seq
MIRT890695	hsa-miR-490-3p	CLIP-seq
MIRT890696	hsa-miR-499-5p	CLIP-seq
MIRT890697	hsa-miR-507	CLIP-seq
MIRT2503056	hsa-miR-548c-3p	CLIP-seq
MIRT890705	hsa-miR-548g	CLIP-seq
MIRT890708	hsa-miR-557	CLIP-seq
MIRT2503057	hsa-miR-576-5p	CLIP-seq
MIRT2503058	hsa-miR-591	CLIP-seq
MIRT2200195	hsa-miR-616	CLIP-seq
MIRT890712	hsa-miR-641	CLIP-seq
MIRT890714	hsa-miR-769-5p	CLIP-seq
MIRT2503059	hsa-miR-9	CLIP-seq
MIRT2503060	hsa-miR-96	CLIP-seq
MIRT2503027	hsa-miR-1227	CLIP-seq
MIRT2503030	hsa-miR-1276	CLIP-seq
MIRT2503031	hsa-miR-1295	CLIP-seq
MIRT890638	hsa-miR-129-5p	CLIP-seq
MIRT2503034	hsa-miR-187	CLIP-seq
MIRT2503038	hsa-miR-3168	CLIP-seq
MIRT890667	hsa-miR-3663-5p	CLIP-seq
MIRT2503039	hsa-miR-3941	CLIP-seq
MIRT2503040	hsa-miR-4275	CLIP-seq
MIRT2503041	hsa-miR-4277	CLIP-seq
MIRT2200182	hsa-miR-4289	CLIP-seq
MIRT2503042	hsa-miR-4311	CLIP-seq
MIRT890680	hsa-miR-450b-5p	CLIP-seq
MIRT890681	hsa-miR-4527	CLIP-seq
MIRT2200183	hsa-miR-4643	CLIP-seq
MIRT2503045	hsa-miR-4659a-5p	CLIP-seq
MIRT2503046	hsa-miR-4659b-5p	CLIP-seq
MIRT1964017	hsa-miR-466	CLIP-seq
MIRT2503047	hsa-miR-4668-3p	CLIP-seq
MIRT2503048	hsa-miR-4672	CLIP-seq
MIRT2200186	hsa-miR-4711-5p	CLIP-seq
MIRT2503049	hsa-miR-4735-5p	CLIP-seq
MIRT2503050	hsa-miR-4747-3p	CLIP-seq
MIRT2503051	hsa-miR-4756-3p	CLIP-seq
MIRT2503052	hsa-miR-4768-5p	CLIP-seq
MIRT890691	hsa-miR-4786-5p	CLIP-seq
MIRT2200190	hsa-miR-4789-3p	CLIP-seq
MIRT2503055	hsa-miR-483-3p	CLIP-seq
MIRT890695	hsa-miR-490-3p	CLIP-seq
MIRT890697	hsa-miR-507	CLIP-seq
MIRT890705	hsa-miR-548g	CLIP-seq
MIRT890708	hsa-miR-557	CLIP-seq
MIRT2503057	hsa-miR-576-5p	CLIP-seq
MIRT890714	hsa-miR-769-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000421	Component	Autophagosome membrane	IDA	17984323
GO:0000776	Component	Kinetochore	IDA	26040712
GO:0000776	Component	Kinetochore	IEA
GO:0000815	Component	ESCRT III complex	IBA
GO:0000815	Component	ESCRT III complex	IDA	24878737
GO:0000815	Component	ESCRT III complex	NAS	36107470
GO:0000815	Component	ESCRT III complex	TAS	20588296, 21118109
GO:0001778	Process	Plasma membrane repair	IDA	24482116
GO:0001778	Process	Plasma membrane repair	IEA
GO:0005515	Function	Protein binding	IPI	16730941, 17683935, 17928862, 21044950, 21975012, 22046132, 23051622, 26496610
GO:0005643	Component	Nuclear pore	IDA	26040713
GO:0005643	Component	Nuclear pore	IEA
GO:0005737	Component	Cytoplasm	IDA	24878737, 25468996
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IDA	16041373
GO:0005765	Component	Lysosomal membrane	IDA	17984323
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005768	Component	Endosome	IDA	24878737
GO:0005768	Component	Endosome	IEA
GO:0005770	Component	Late endosome	IDA	16041373
GO:0005771	Component	Multivesicular body	IBA
GO:0005828	Component	Kinetochore microtubule	IDA	26040712
GO:0005828	Component	Kinetochore microtubule	IEA
GO:0005829	Component	Cytosol	IDA	16041373
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	24878737
GO:0005886	Component	Plasma membrane	IDA	24878737
GO:0006914	Process	Autophagy	IMP	17984323
GO:0006914	Process	Autophagy	TAS	17683935, 21118109, 24095276
GO:0006997	Process	Nucleus organization	IMP	20616062
GO:0007032	Process	Endosome organization	IMP	16041373
GO:0007034	Process	Vacuolar transport	IEA
GO:0007080	Process	Mitotic metaphase chromosome alignment	IEA
GO:0007080	Process	Mitotic metaphase chromosome alignment	IMP	20616062
GO:0010824	Process	Regulation of centrosome duplication	IMP	20616062
GO:0014069	Component	Postsynaptic density	IEA
GO:0015031	Process	Protein transport	IBA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016236	Process	Macroautophagy	TAS	20588296
GO:0019076	Process	Viral release from host cell	IGI	23051622
GO:0019076	Process	Viral release from host cell	IMP	23051622
GO:0019904	Function	Protein domain specific binding	IPI	17928862
GO:0030496	Component	Midbody	IDA	26040712
GO:0030496	Component	Midbody	IEA
GO:0031468	Process	Nuclear membrane reassembly	IEA
GO:0031468	Process	Nuclear membrane reassembly	IMP	26040713
GO:0031902	Component	Late endosome membrane	IEA
GO:0032509	Process	Endosome transport via multivesicular body sorting pathway	IBA
GO:0032585	Component	Multivesicular body membrane	IDA	16554368
GO:0032585	Component	Multivesicular body membrane	IEA
GO:0036258	Process	Multivesicular body assembly	NAS	16505166
GO:0036258	Process	Multivesicular body assembly	TAS	20588296
GO:0039702	Process	Viral budding via host ESCRT complex	IDA	24878737
GO:0039702	Process	Viral budding via host ESCRT complex	IEA
GO:0039702	Process	Viral budding via host ESCRT complex	IGI	24107264
GO:0039702	Process	Viral budding via host ESCRT complex	IMP	23051622
GO:0039702	Process	Viral budding via host ESCRT complex	TAS	20588296
GO:0043162	Process	Ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IDA	17984323
GO:0043162	Process	Ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IEA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045324	Process	Late endosome to vacuole transport	IBA
GO:0046761	Process	Viral budding from plasma membrane	IDA	24878737
GO:0046761	Process	Viral budding from plasma membrane	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0050890	Process	Cognition	IMP	16041373
GO:0051469	Process	Vesicle fusion with vacuole	NAS	16505166
GO:0061763	Process	Multivesicular body-lysosome fusion	NAS	16505166
GO:0061763	Process	Multivesicular body-lysosome fusion	TAS	21118109
GO:0061952	Process	Midbody abscission	IEA
GO:0061952	Process	Midbody abscission	IMP	20616062
GO:0070050	Process	Neuron cellular homeostasis	IMP	16041373, 16807408
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0071985	Process	Multivesicular body sorting pathway	IDA	16554368
GO:0071985	Process	Multivesicular body sorting pathway	IEA
GO:0090148	Process	Membrane fission	NAS	19234443
GO:0097352	Process	Autophagosome maturation	IEA
GO:0097352	Process	Autophagosome maturation	IMP	17984323
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099159	Process	Regulation of modification of postsynaptic structure	IEA
GO:0099175	Process	Regulation of postsynapse organization	IEA
GO:1901673	Process	Regulation of mitotic spindle assembly	IEA
GO:1901673	Process	Regulation of mitotic spindle assembly	IMP	20616062
GO:1902774	Process	Late endosome to lysosome transport	IEA
GO:1902774	Process	Late endosome to lysosome transport	IMP	17984323
GO:1904903	Process	ESCRT III complex disassembly	NAS	20588296
GO:1904930	Component	Amphisome membrane	IDA	17984323
GO:1904930	Component	Amphisome membrane	IEA

Other IDs

• MIM: 609512
• HGNC: 24537
• e!Ensembl: ENSG00000083937

Protein

• UniProt ID: Q9UQN3
• Protein name: Charged multivesicular body protein 2b (CHMP2.5) (Chromatin-modifying protein 2b) (CHMP2b) (Vacuolar protein sorting-associated protein 2-2) (Vps2-2) (hVps2-2)
• Protein function: Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (IL
• PDB: 2JQK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03357	Snf7	16 → 186	Snf7	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Expressed in brain, heart, skeletal muscle, spleen, kidney, liver, small intestine, pancreas, lung, placenta and leukocytes. In brain, it is expressed in cerebellum, cerebral cortex, medulla, spinal cord, occipital lo
• Sequence:

  MASLFKKKTVDDVIKEQNRELRGTQRAIIRDRAALEKQEKQLELEIKKMAKIGNKEACKV
  LAKQLVHLRKQKTRTFAVSSKVTSMSTQTKVMNSQMKMAGAMSTTAKTMQAVNKKMDPQK
  TLQTMQNFQKENMKMEMTEEMINDTLDDIFDGSDDEEESQDIVNQVLDEIGIEISGKMAK
  APSAARSLPSASTSKATISDEEIERQLKALGVD

• Sequence length: 213

Pathways

KEGG:

Endocytosis
Necroptosis
Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases

Reactome:

Budding and maturation of HIV virion
Macroautophagy
Endosomal Sorting Complex Required For Transport (ESCRT)
HCMV Late Events
Sealing of the nuclear envelope (NE) by ESCRT-III

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Cervical cancer	Pathogenic	rs63750652	RCV005887701	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Pathogenic	rs63750652, rs63751126, rs63750355, rs281864934	RCV002055246 RCV000020696 RCV000001722 RCV000055937	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Amyotrophic lateral sclerosis	Conflicting classifications of pathogenicity	ClinVar CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AMYOTROPHIC LATERAL SCLEROSIS TYPE 17	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHMP2B-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA, VASCULAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal dementia	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PANHYPOPITUITARISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular dementia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abulia	Abulia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	24894955		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	22371024		★☆☆☆☆ Found in Text Mining only
Alexia	Alexia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	29486463	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	28835279		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	CTD_human_DG	16807408		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	ORPHANET_DG	16807408, 20352044, 23155438		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	16987882, 17984323, 18418046, 18759352, 20352044, 22105541, 25109764, 27329763		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	17984323, 33770234, 40316175	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	BEFREE	20472325		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis With Dementia	Amyotrophic Lateral Sclerosis With Dementia	CTD_human_DG	16807408		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Chmp2B-Related	Amyotrophic lateral sclerosis	UNIPROT_DG	16807408, 20352044		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Chmp2B-Related	Amyotrophic lateral sclerosis	GENOMICS_ENGLAND_DG	17956895, 20352044		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Chmp2B-Related	Amyotrophic lateral sclerosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Chmp2B-Related	Amyotrophic lateral sclerosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Guam Form	Amyotrophic lateral sclerosis	CTD_human_DG	16807408		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	11005792, 16085548, 17510944, 21871825, 26572590, 29023457		★☆☆☆☆ Found in Text Mining only
Anemia, Hypochromic Microcytic, With Iron Overload	Anemia	BEFREE	16160008, 16584902, 21871825		★☆☆☆☆ Found in Text Mining only
Anomia	Anomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	29084567		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	29084567		★☆☆☆☆ Found in Text Mining only
Behavioral variant of frontotemporal dementia	Behavioral Variant Of Frontotemporal Dementia	ORPHANET_DG	22355793, 23597030		★☆☆☆☆ Found in Text Mining only
Behavioral variant of frontotemporal dementia	Behavioral Variant Of Frontotemporal Dementia	Orphanet			★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	BEFREE	19202337		★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	22666436		★☆☆☆☆ Found in Text Mining only
Broca Aphasia	Broca Aphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	31466045		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	29023457		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	19202337		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	22666436		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	14768003		★☆☆☆☆ Found in Text Mining only
Compulsive hoarding	Compulsive Hoarding	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	29203958		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	LHGDN	16041373, 16941655, 16979267		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	16941655, 16954699, 17095158, 18484988, 22366797, 23142962, 27329763		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	35120450	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29084567		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	37538791	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyscalculia	Dyscalculia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysgraphia	Dysgraphia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontotemporal cerebral atrophy	Frontotemporal cerebral atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	16041373, 16807408, 16941655, 16954699, 16979267, 16987882, 17591968, 17683935, 17984323, 18094607, 18418046, 19123971, 19143633, 19150504, 19202337, 19638255, 20223751, 20592581, 20699355, 21222599, 21815258, 22786763, 23142962, 24095276, 24246281, 26358247, 26972529, 27329763, 27632209, 28093491, 28216144, 28888721, 29432529, 29578490, 29890743, 30193769, 30496365, 31578281, 31587468		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Frontotemporal dementia	Frontotemporal dementia	CTD_human_DG	16041373		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Frontotemporal dementia	Frontotemporal dementia	GENOMICS_ENGLAND_DG	17956895		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	17984323, 20223751, 20592581, 24709683, 27632209, 28216144, 29237796, 29476165, 31578281, 33626531, 37635943, 40316175	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Frontotemporal dementia	Frontotemporal dementia	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Frontotemporal Dementia With Motor Neuron Disease	Frontotemporal Dementia With Motor Neuron Disease	GENOMICS_ENGLAND_DG	17956895		★☆☆☆☆ Found in Text Mining only
FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED	Frontotemporal dementia	UNIPROT_DG	16041373		★☆☆☆☆ Found in Text Mining only
FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED	Frontotemporal dementia	BEFREE	16091455, 16584902, 26651479, 27329763, 28754960, 28888721, 9989781		★☆☆☆☆ Found in Text Mining only
FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED	Frontotemporal dementia	GENOMICS_ENGLAND_DG	17956895, 20352044		★☆☆☆☆ Found in Text Mining only
FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED	Frontotemporal dementia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED	Frontotemporal dementia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	16431024, 17702495, 17805587, 17956895, 19202337, 20412296, 20625756, 22355793, 22366797, 29578490		★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	CTD_human_DG	17956895		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34427071	Associate	★☆☆☆☆ Found in Text Mining only
Grammar-specific speech disorder	Grammar-specific speech disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	24120082		★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	10382697, 12547214, 15223008, 15247188, 19892936, 23177986, 30713087		★☆☆☆☆ Found in Text Mining only
HFE-Associated Hereditary Hemochromatosis	Hemochromatosis	BEFREE	12547214		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	30423260		★☆☆☆☆ Found in Text Mining only
Hypocalciuric hypercalcemia, familial, type 1	Hypocalciuric Hypercalcemia	BEFREE	21973163, 23177986		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	23142962		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	26572590		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	21815258		★☆☆☆☆ Found in Text Mining only
Intestinal Volvulus	Intestinal Volvulus	BEFREE	29957332		★☆☆☆☆ Found in Text Mining only
Iron deficiency anemia	Iron deficiency anemia	BEFREE	12547214, 30137476, 30713087		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	12547214, 14618243, 14768003, 15223008, 15459009, 16023393, 16085548, 16439678, 16584902, 19553145, 21871825, 22404220, 28261264, 30027360, 31518742		★☆☆☆☆ Found in Text Mining only
Iron-Refractory Iron Deficiency Anemia	Anemia	BEFREE	15459009, 16023393, 16439678, 16584902		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	29084567		★☆☆☆☆ Found in Text Mining only
Laryngospasm	Laryngospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	22989140		★☆☆☆☆ Found in Text Mining only
Lingual-Facial-Buccal Dyskinesia	Orofacial dyskinesia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30527495		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	14768003		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	37635943	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	23633457		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	31466045		★☆☆☆☆ Found in Text Mining only
Microcytic hypochromic anemia (disorder)	Anemia	BEFREE	16439678, 18154916, 18596229, 23177986		★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	17591968, 19884572, 21222599		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	19884572, 29476165	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	23155438	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27546461, 30076742, 30527495		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	19143633		★☆☆☆☆ Found in Text Mining only
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5	Neurodegeneration With Brain Iron Accumulation	BEFREE	28261264		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	17984323, 37635943	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	17984323, 18418046, 22521643, 23142962, 26358247, 28811263		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	29084567		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30959888		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	31466045		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	20082992, 21777657, 22989140, 24475238, 25817364		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	20082992		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	37090158	Associate	★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	16041373, 16807408, 16941655, 16954699, 16979267, 17683935, 17984323, 18094607, 19123971, 19143633, 19150504, 20223751, 20592581, 20699355, 21222599, 21815258, 22786763, 24095276, 26972529, 28093491, 28216144, 28888721, 30193769, 30496365		★☆☆☆☆ Found in Text Mining only
Porphyria Acute Intermittent	Porphyria	Pubtator	20490813	Associate	★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	16941655, 16954699, 17095158, 18484988, 22366797, 23142962, 27329763		★☆☆☆☆ Found in Text Mining only
Primary Progressive Nonfluent Aphasia	Nonfluent Aphasia	ORPHANET_DG	23597030		★☆☆☆☆ Found in Text Mining only
Progressive non-fluent aphasia	Progressive Non-Fluent Aphasia	Orphanet			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25371445	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	23633457		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	17510944, 21710629		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	29084567		★☆☆☆☆ Found in Text Mining only
Semantic Dementia	Semantic Dementia	CTD_human_DG	16041373		★☆☆☆☆ Found in Text Mining only
Semantic Dementia	Semantic Dementia	ORPHANET_DG	23597030		★☆☆☆☆ Found in Text Mining only
Semantic dementia	Semantic Dementia	Orphanet			★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Temporal cortical atrophy	Temporal cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31213851		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	31721611		★☆☆☆☆ Found in Text Mining only