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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	25978
Gene name Gene Name - the full gene name approved by the HGNC.	Charged multivesicular body protein 2B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CHMP2B
Synonyms (NCBI Gene) Gene synonyms aliases	ALS17, CHMP2.5, DMT1, FTDALS7, VPS2-2, VPS2B
Disease Acronyms (UniProt) Disease acronyms from UniProt database	FTDALS7
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3p11.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(6)

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

Show/Hide all(276)

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

Show/Hide all(40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000815	Component	ESCRT III complex	IBA	21873635
GO:0000815	Component	ESCRT III complex	IDA	24878737
GO:0000815	Component	ESCRT III complex	TAS	20588296, 21118109
GO:0005515	Function	Protein binding	IPI	16730941, 17683935, 21044950, 21975012, 22046132, 23051622, 26496610
GO:0005737	Component	Cytoplasm	IDA	24878737, 25468996
GO:0005764	Component	Lysosome	IDA	16041373
GO:0005768	Component	Endosome	IDA	24878737
GO:0005770	Component	Late endosome	IDA	16041373
GO:0005771	Component	Multivesicular body	IBA	21873635
GO:0005829	Component	Cytosol	IDA	16041373
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	24878737
GO:0006914	Process	Autophagy	TAS	17683935, 21118109, 24095276
GO:0006997	Process	Nucleus organization	IMP	20616062
GO:0007032	Process	Endosome organization	IMP	16041373
GO:0007080	Process	Mitotic metaphase plate congression	IMP	20616062
GO:0010824	Process	Regulation of centrosome duplication	IMP	20616062
GO:0015031	Process	Protein transport	IBA	21873635
GO:0016197	Process	Endosomal transport	TAS
GO:0016236	Process	Macroautophagy	TAS	20588296
GO:0019058	Process	Viral life cycle	TAS
GO:0019904	Function	Protein domain specific binding	IPI	17928862
GO:0031902	Component	Late endosome membrane	IEA
GO:0032509	Process	Endosome transport via multivesicular body sorting pathway	IBA	21873635
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	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:0045296	Function	Cadherin binding	HDA	25468996
GO:0045324	Process	Late endosome to vacuole transport	IBA	21873635
GO:0050890	Process	Cognition	IMP	16041373
GO:0061763	Process	Multivesicular body-lysosome fusion	TAS	21118109
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:1901673	Process	Regulation of mitotic spindle assembly	IMP	20616062
GO:1902188	Process	Positive regulation of viral release from host cell	IGI	23051622
GO:1902188	Process	Positive regulation of viral release from host cell	IMP	23051622
GO:1904903	Process	ESCRT III complex disassembly	NAS	20588296

MIM	HGNC	e!Ensembl
609512	24537	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

Interactions

View interactions

	KEGG		Reactome
	Endocytosis Necroptosis Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases		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

Show/Hide Causal Diseases (5)

Disease term	Disease name	dbSNP ID	References
Causal
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis, Amyotrophic Lateral Sclerosis, Guam Form, Amyotrophic Lateral Sclerosis, Chmp2B-Related, Amyotrophic lateral sclerosis	rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733 View all (171 more)	16807408, 20352044, 23155438, 17956895
Apraxia	Apraxias	rs121908377, rs121908378, rs1135401820, rs1178491246, rs1584969672
Frontotemporal dementia	Frontotemporal dementia, Frontotemporal Lobar Degeneration, FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED	rs63751273, rs63750376, rs63750424, rs63750972, rs1568327531, rs63750570, rs63750756, rs63751165, rs63750512, rs63751438, rs63750912, rs63750711, rs63750635, rs63750349, rs63750092 View all (31 more)	17956895, 16041373, 20352044
Parkinson disease	Parkinsonian Disorders	rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432 View all (84 more)
Seizure	Tonic - clonic seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061 View all (179 more)

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Mental depression	Depressive disorder	ClinVar
Amyotrophic Lateral Sclerosis	frontotemporal dementia and/or amyotrophic lateral sclerosis 7, amyotrophic lateral sclerosis type 17	GenCC

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text Mining
Alzheimer Disease	Associate	29486463
Amyotrophic Lateral Sclerosis	Associate	17984323, 33770234, 40316175
Chromosome 3 Linked Frontotemporal Dementia	Associate	20223751, 28216144, 32928252, 37543250, 40316175
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	29486463
Dementia	Associate	35120450
Diabetes Mellitus Type 2	Associate	37538791
Frontotemporal Dementia	Associate	17984323, 20223751, 20592581, 24709683, 27632209, 28216144, 29237796, 29476165, 31578281, 33626531, 37635943, 40316175
Frontotemporal Lobar Degeneration	Associate	18166610, 20490813, 40316175
Glioblastoma	Associate	34427071
Idiopathic Noncirrhotic Portal Hypertension	Associate	19307463
Inflammation	Associate	37543250
Late Onset Disorders	Associate	40316175
Liver Neoplasms	Associate	37635943
Motor Neuron Disease	Associate	19884572, 29476165
Muscular Atrophy Spinal	Associate	23155438
Neoplasms	Associate	19307463
Neurodegenerative Diseases	Associate	17984323, 37635943
Periodontitis	Associate	37090158
Porphyria Acute Intermittent	Associate	20490813
Prostatic Neoplasms	Associate	25371445

CHMP2B (charged multivesicular body protein 2B)