UBQLN2 (ubiquilin 2)

Gene

• Entrez ID: 29978
• Gene name: Ubiquilin 2
• Gene symbol: UBQLN2
• Synonyms (NCBI Gene): ALS15, CHAP1, DSK2, HRIHFB2157, N4BP4, PLIC2
• Chromosome: X
• Chromosome location: Xp11.21
• Summary: This gene encodes an ubiquitin-like protein (ubiquilin) that shares high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain a N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs45559331	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs369947678	C>A,G,T	Benign, pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs387906709	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs387906710	C>T	Pathogenic	Missense variant, coding sequence variant
rs387906711	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs761503297	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020846	hsa-miR-155-5p	Proteomics	18668040
MIRT025411	hsa-miR-34a-5p	Proteomics	21566225
MIRT025411	hsa-miR-34a-5p	Proteomics	21566225
MIRT025411	hsa-miR-34a-5p	Proteomics	21566225
MIRT041770	hsa-miR-484	CLASH	23622248
MIRT041359	hsa-miR-193b-3p	CLASH	23622248
MIRT1470944	hsa-miR-1183	CLIP-seq
MIRT1470945	hsa-miR-1224-3p	CLIP-seq
MIRT1470946	hsa-miR-1253	CLIP-seq
MIRT1470947	hsa-miR-1260	CLIP-seq
MIRT1470948	hsa-miR-1260b	CLIP-seq
MIRT1470949	hsa-miR-1279	CLIP-seq
MIRT1470950	hsa-miR-1280	CLIP-seq
MIRT1470951	hsa-miR-1283	CLIP-seq
MIRT1470952	hsa-miR-1298	CLIP-seq
MIRT1470953	hsa-miR-1321	CLIP-seq
MIRT1470954	hsa-miR-1323	CLIP-seq
MIRT1470955	hsa-miR-147	CLIP-seq
MIRT1470956	hsa-miR-151-3p	CLIP-seq
MIRT1470957	hsa-miR-186	CLIP-seq
MIRT1470958	hsa-miR-188-3p	CLIP-seq
MIRT1470959	hsa-miR-205	CLIP-seq
MIRT1470960	hsa-miR-2054	CLIP-seq
MIRT1470961	hsa-miR-2113	CLIP-seq
MIRT1470962	hsa-miR-3117-5p	CLIP-seq
MIRT1470963	hsa-miR-3133	CLIP-seq
MIRT1470964	hsa-miR-3150a-3p	CLIP-seq
MIRT1470965	hsa-miR-3155	CLIP-seq
MIRT1470966	hsa-miR-3155b	CLIP-seq
MIRT1470967	hsa-miR-3156-3p	CLIP-seq
MIRT1470968	hsa-miR-3175	CLIP-seq
MIRT1470969	hsa-miR-323-3p	CLIP-seq
MIRT1470970	hsa-miR-337-5p	CLIP-seq
MIRT1470971	hsa-miR-3646	CLIP-seq
MIRT1470972	hsa-miR-3662	CLIP-seq
MIRT1470973	hsa-miR-371b-5p	CLIP-seq
MIRT1470974	hsa-miR-3941	CLIP-seq
MIRT1470975	hsa-miR-409-5p	CLIP-seq
MIRT1470976	hsa-miR-4275	CLIP-seq
MIRT1470977	hsa-miR-4276	CLIP-seq
MIRT1470978	hsa-miR-4305	CLIP-seq
MIRT1470979	hsa-miR-4310	CLIP-seq
MIRT1470980	hsa-miR-4330	CLIP-seq
MIRT1470981	hsa-miR-4419a	CLIP-seq
MIRT1470982	hsa-miR-4481	CLIP-seq
MIRT1470983	hsa-miR-4510	CLIP-seq
MIRT1470984	hsa-miR-4521	CLIP-seq
MIRT1470985	hsa-miR-4643	CLIP-seq
MIRT1470986	hsa-miR-466	CLIP-seq
MIRT1470987	hsa-miR-4672	CLIP-seq
MIRT1470988	hsa-miR-4698	CLIP-seq
MIRT1470989	hsa-miR-4711-5p	CLIP-seq
MIRT1470990	hsa-miR-4718	CLIP-seq
MIRT1470991	hsa-miR-4728-5p	CLIP-seq
MIRT1470992	hsa-miR-4739	CLIP-seq
MIRT1470993	hsa-miR-4745-5p	CLIP-seq
MIRT1470994	hsa-miR-4756-5p	CLIP-seq
MIRT1470995	hsa-miR-4760-5p	CLIP-seq
MIRT1470996	hsa-miR-4789-3p	CLIP-seq
MIRT1470997	hsa-miR-491-5p	CLIP-seq
MIRT1470998	hsa-miR-520d-5p	CLIP-seq
MIRT1470999	hsa-miR-524-5p	CLIP-seq
MIRT1471000	hsa-miR-548a-5p	CLIP-seq
MIRT1471001	hsa-miR-548ab	CLIP-seq
MIRT1471002	hsa-miR-548ak	CLIP-seq
MIRT1471003	hsa-miR-548b-5p	CLIP-seq
MIRT1471004	hsa-miR-548c-5p	CLIP-seq
MIRT1471005	hsa-miR-548d-5p	CLIP-seq
MIRT1471006	hsa-miR-548h	CLIP-seq
MIRT1471007	hsa-miR-548i	CLIP-seq
MIRT1471008	hsa-miR-548j	CLIP-seq
MIRT1471009	hsa-miR-548o	CLIP-seq
MIRT1471010	hsa-miR-548w	CLIP-seq
MIRT1471011	hsa-miR-548y	CLIP-seq
MIRT1471012	hsa-miR-559	CLIP-seq
MIRT1471013	hsa-miR-576-3p	CLIP-seq
MIRT1471014	hsa-miR-583	CLIP-seq
MIRT1471015	hsa-miR-599	CLIP-seq
MIRT1471016	hsa-miR-630	CLIP-seq
MIRT1471017	hsa-miR-659	CLIP-seq
MIRT1471018	hsa-miR-888	CLIP-seq
MIRT1471019	hsa-miR-939	CLIP-seq
MIRT2141760	hsa-miR-1182	CLIP-seq
MIRT1470944	hsa-miR-1183	CLIP-seq
MIRT1470945	hsa-miR-1224-3p	CLIP-seq
MIRT1470946	hsa-miR-1253	CLIP-seq
MIRT1470947	hsa-miR-1260	CLIP-seq
MIRT1470948	hsa-miR-1260b	CLIP-seq
MIRT1470949	hsa-miR-1279	CLIP-seq
MIRT1470950	hsa-miR-1280	CLIP-seq
MIRT1470951	hsa-miR-1283	CLIP-seq
MIRT1470954	hsa-miR-1323	CLIP-seq
MIRT1470956	hsa-miR-151-3p	CLIP-seq
MIRT1470958	hsa-miR-188-3p	CLIP-seq
MIRT2141761	hsa-miR-224	CLIP-seq
MIRT2141762	hsa-miR-3115	CLIP-seq
MIRT2141763	hsa-miR-3124-3p	CLIP-seq
MIRT1470967	hsa-miR-3156-3p	CLIP-seq
MIRT2141764	hsa-miR-3607-3p	CLIP-seq
MIRT2141765	hsa-miR-3686	CLIP-seq
MIRT1470973	hsa-miR-371b-5p	CLIP-seq
MIRT2141766	hsa-miR-3942-5p	CLIP-seq
MIRT2141767	hsa-miR-448	CLIP-seq
MIRT2141768	hsa-miR-4652-3p	CLIP-seq
MIRT1470988	hsa-miR-4698	CLIP-seq
MIRT2141769	hsa-miR-4703-5p	CLIP-seq
MIRT1470990	hsa-miR-4718	CLIP-seq
MIRT2141770	hsa-miR-4753-3p	CLIP-seq
MIRT2141771	hsa-miR-4789-5p	CLIP-seq
MIRT2141772	hsa-miR-513a-3p	CLIP-seq
MIRT1471009	hsa-miR-548o	CLIP-seq
MIRT2141773	hsa-miR-603	CLIP-seq
MIRT1471017	hsa-miR-659	CLIP-seq
MIRT1471018	hsa-miR-888	CLIP-seq
MIRT2362433	hsa-miR-1252	CLIP-seq
MIRT2362434	hsa-miR-1256	CLIP-seq
MIRT2362435	hsa-miR-1343	CLIP-seq
MIRT1470959	hsa-miR-205	CLIP-seq
MIRT2141761	hsa-miR-224	CLIP-seq
MIRT2362436	hsa-miR-2276	CLIP-seq
MIRT2362437	hsa-miR-3074-5p	CLIP-seq
MIRT2141763	hsa-miR-3124-3p	CLIP-seq
MIRT1470965	hsa-miR-3155	CLIP-seq
MIRT1470966	hsa-miR-3155b	CLIP-seq
MIRT2362438	hsa-miR-331-5p	CLIP-seq
MIRT2141764	hsa-miR-3607-3p	CLIP-seq
MIRT2362439	hsa-miR-3974	CLIP-seq
MIRT2362440	hsa-miR-409-3p	CLIP-seq
MIRT2362441	hsa-miR-425	CLIP-seq
MIRT2362442	hsa-miR-4717-3p	CLIP-seq
MIRT2362443	hsa-miR-4720-5p	CLIP-seq
MIRT2362444	hsa-miR-4772-3p	CLIP-seq
MIRT2362445	hsa-miR-4799-3p	CLIP-seq
MIRT2362446	hsa-miR-487a	CLIP-seq
MIRT2362447	hsa-miR-499-3p	CLIP-seq
MIRT2362448	hsa-miR-499a-3p	CLIP-seq
MIRT2141772	hsa-miR-513a-3p	CLIP-seq
MIRT2362449	hsa-miR-514	CLIP-seq
MIRT2362450	hsa-miR-514b-3p	CLIP-seq
MIRT2141773	hsa-miR-603	CLIP-seq
MIRT2362451	hsa-miR-642b	CLIP-seq
MIRT2362440	hsa-miR-409-3p	CLIP-seq
MIRT2462824	hsa-miR-548c-3p	CLIP-seq
MIRT2141760	hsa-miR-1182	CLIP-seq
MIRT1470945	hsa-miR-1224-3p	CLIP-seq
MIRT2362433	hsa-miR-1252	CLIP-seq
MIRT1470946	hsa-miR-1253	CLIP-seq
MIRT1470947	hsa-miR-1260	CLIP-seq
MIRT1470948	hsa-miR-1260b	CLIP-seq
MIRT2656337	hsa-miR-1264	CLIP-seq
MIRT1470950	hsa-miR-1280	CLIP-seq
MIRT2656338	hsa-miR-1303	CLIP-seq
MIRT1470953	hsa-miR-1321	CLIP-seq
MIRT1470954	hsa-miR-1323	CLIP-seq
MIRT2362435	hsa-miR-1343	CLIP-seq
MIRT1470955	hsa-miR-147	CLIP-seq
MIRT1470957	hsa-miR-186	CLIP-seq
MIRT1470958	hsa-miR-188-3p	CLIP-seq
MIRT1470961	hsa-miR-2113	CLIP-seq
MIRT2656339	hsa-miR-298	CLIP-seq
MIRT2362437	hsa-miR-3074-5p	CLIP-seq
MIRT2141762	hsa-miR-3115	CLIP-seq
MIRT1470962	hsa-miR-3117-5p	CLIP-seq
MIRT2141763	hsa-miR-3124-3p	CLIP-seq
MIRT1470963	hsa-miR-3133	CLIP-seq
MIRT2656340	hsa-miR-3135	CLIP-seq
MIRT1470964	hsa-miR-3150a-3p	CLIP-seq
MIRT1470967	hsa-miR-3156-3p	CLIP-seq
MIRT1470968	hsa-miR-3175	CLIP-seq
MIRT2362438	hsa-miR-331-5p	CLIP-seq
MIRT1470970	hsa-miR-337-5p	CLIP-seq
MIRT2141764	hsa-miR-3607-3p	CLIP-seq
MIRT1470971	hsa-miR-3646	CLIP-seq
MIRT2656341	hsa-miR-3658	CLIP-seq
MIRT1470972	hsa-miR-3662	CLIP-seq
MIRT2141765	hsa-miR-3686	CLIP-seq
MIRT1470973	hsa-miR-371b-5p	CLIP-seq
MIRT2656342	hsa-miR-4251	CLIP-seq
MIRT2656343	hsa-miR-4261	CLIP-seq
MIRT1470976	hsa-miR-4275	CLIP-seq
MIRT1470977	hsa-miR-4276	CLIP-seq
MIRT1470978	hsa-miR-4305	CLIP-seq
MIRT1470979	hsa-miR-4310	CLIP-seq
MIRT1470981	hsa-miR-4419a	CLIP-seq
MIRT2656344	hsa-miR-4420	CLIP-seq
MIRT2656345	hsa-miR-4434	CLIP-seq
MIRT2656346	hsa-miR-4476	CLIP-seq
MIRT2141767	hsa-miR-448	CLIP-seq
MIRT1470982	hsa-miR-4481	CLIP-seq
MIRT2656347	hsa-miR-4496	CLIP-seq
MIRT2656348	hsa-miR-4509	CLIP-seq
MIRT1470983	hsa-miR-4510	CLIP-seq
MIRT2656349	hsa-miR-4516	CLIP-seq
MIRT1470984	hsa-miR-4521	CLIP-seq
MIRT2656350	hsa-miR-4533	CLIP-seq
MIRT2656351	hsa-miR-4539	CLIP-seq
MIRT2141768	hsa-miR-4652-3p	CLIP-seq
MIRT2656352	hsa-miR-4662a-5p	CLIP-seq
MIRT1470988	hsa-miR-4698	CLIP-seq
MIRT1470990	hsa-miR-4718	CLIP-seq
MIRT2656353	hsa-miR-4724-5p	CLIP-seq
MIRT1470991	hsa-miR-4728-5p	CLIP-seq
MIRT1470992	hsa-miR-4739	CLIP-seq
MIRT1470993	hsa-miR-4745-5p	CLIP-seq
MIRT2141770	hsa-miR-4753-3p	CLIP-seq
MIRT1470994	hsa-miR-4756-5p	CLIP-seq
MIRT2656354	hsa-miR-4774-3p	CLIP-seq
MIRT1470997	hsa-miR-491-5p	CLIP-seq
MIRT2656355	hsa-miR-494	CLIP-seq
MIRT2656356	hsa-miR-5096	CLIP-seq
MIRT2141772	hsa-miR-513a-3p	CLIP-seq
MIRT1470998	hsa-miR-520d-5p	CLIP-seq
MIRT1470999	hsa-miR-524-5p	CLIP-seq
MIRT1471000	hsa-miR-548a-5p	CLIP-seq
MIRT1471001	hsa-miR-548ab	CLIP-seq
MIRT1471002	hsa-miR-548ak	CLIP-seq
MIRT1471003	hsa-miR-548b-5p	CLIP-seq
MIRT2462824	hsa-miR-548c-3p	CLIP-seq
MIRT1471004	hsa-miR-548c-5p	CLIP-seq
MIRT1471005	hsa-miR-548d-5p	CLIP-seq
MIRT1471006	hsa-miR-548h	CLIP-seq
MIRT1471007	hsa-miR-548i	CLIP-seq
MIRT1471008	hsa-miR-548j	CLIP-seq
MIRT1471009	hsa-miR-548o	CLIP-seq
MIRT1471010	hsa-miR-548w	CLIP-seq
MIRT1471011	hsa-miR-548y	CLIP-seq
MIRT1471012	hsa-miR-559	CLIP-seq
MIRT1471014	hsa-miR-583	CLIP-seq
MIRT1471015	hsa-miR-599	CLIP-seq
MIRT2362451	hsa-miR-642b	CLIP-seq
MIRT1471018	hsa-miR-888	CLIP-seq
MIRT1471019	hsa-miR-939	CLIP-seq
MIRT2141760	hsa-miR-1182	CLIP-seq
MIRT1470945	hsa-miR-1224-3p	CLIP-seq
MIRT2362433	hsa-miR-1252	CLIP-seq
MIRT1470946	hsa-miR-1253	CLIP-seq
MIRT2362434	hsa-miR-1256	CLIP-seq
MIRT1470947	hsa-miR-1260	CLIP-seq
MIRT1470948	hsa-miR-1260b	CLIP-seq
MIRT2656337	hsa-miR-1264	CLIP-seq
MIRT1470950	hsa-miR-1280	CLIP-seq
MIRT2656338	hsa-miR-1303	CLIP-seq
MIRT1470953	hsa-miR-1321	CLIP-seq
MIRT1470954	hsa-miR-1323	CLIP-seq
MIRT2362435	hsa-miR-1343	CLIP-seq
MIRT1470957	hsa-miR-186	CLIP-seq
MIRT1470958	hsa-miR-188-3p	CLIP-seq
MIRT1470959	hsa-miR-205	CLIP-seq
MIRT2141761	hsa-miR-224	CLIP-seq
MIRT2362437	hsa-miR-3074-5p	CLIP-seq
MIRT2141762	hsa-miR-3115	CLIP-seq
MIRT1470962	hsa-miR-3117-5p	CLIP-seq
MIRT2141763	hsa-miR-3124-3p	CLIP-seq
MIRT2656340	hsa-miR-3135	CLIP-seq
MIRT1470965	hsa-miR-3155	CLIP-seq
MIRT1470966	hsa-miR-3155b	CLIP-seq
MIRT1470967	hsa-miR-3156-3p	CLIP-seq
MIRT2362438	hsa-miR-331-5p	CLIP-seq
MIRT1470970	hsa-miR-337-5p	CLIP-seq
MIRT2141764	hsa-miR-3607-3p	CLIP-seq
MIRT1470971	hsa-miR-3646	CLIP-seq
MIRT1470972	hsa-miR-3662	CLIP-seq
MIRT2141765	hsa-miR-3686	CLIP-seq
MIRT1470973	hsa-miR-371b-5p	CLIP-seq
MIRT2656342	hsa-miR-4251	CLIP-seq
MIRT2656343	hsa-miR-4261	CLIP-seq
MIRT1470976	hsa-miR-4275	CLIP-seq
MIRT1470977	hsa-miR-4276	CLIP-seq
MIRT1470978	hsa-miR-4305	CLIP-seq
MIRT1470979	hsa-miR-4310	CLIP-seq
MIRT1470981	hsa-miR-4419a	CLIP-seq
MIRT2656344	hsa-miR-4420	CLIP-seq
MIRT2656345	hsa-miR-4434	CLIP-seq
MIRT2656346	hsa-miR-4476	CLIP-seq
MIRT2141767	hsa-miR-448	CLIP-seq
MIRT2656347	hsa-miR-4496	CLIP-seq
MIRT2656348	hsa-miR-4509	CLIP-seq
MIRT1470983	hsa-miR-4510	CLIP-seq
MIRT2656349	hsa-miR-4516	CLIP-seq
MIRT1470984	hsa-miR-4521	CLIP-seq
MIRT2656350	hsa-miR-4533	CLIP-seq
MIRT2656351	hsa-miR-4539	CLIP-seq
MIRT2141768	hsa-miR-4652-3p	CLIP-seq
MIRT2694681	hsa-miR-4661-5p	CLIP-seq
MIRT2656352	hsa-miR-4662a-5p	CLIP-seq
MIRT1470988	hsa-miR-4698	CLIP-seq
MIRT2362443	hsa-miR-4720-5p	CLIP-seq
MIRT2656353	hsa-miR-4724-5p	CLIP-seq
MIRT1470991	hsa-miR-4728-5p	CLIP-seq
MIRT1470992	hsa-miR-4739	CLIP-seq
MIRT2141770	hsa-miR-4753-3p	CLIP-seq
MIRT1470994	hsa-miR-4756-5p	CLIP-seq
MIRT2656354	hsa-miR-4774-3p	CLIP-seq
MIRT2362445	hsa-miR-4799-3p	CLIP-seq
MIRT2656355	hsa-miR-494	CLIP-seq
MIRT2656356	hsa-miR-5096	CLIP-seq
MIRT2141772	hsa-miR-513a-3p	CLIP-seq
MIRT1470998	hsa-miR-520d-5p	CLIP-seq
MIRT1470999	hsa-miR-524-5p	CLIP-seq
MIRT1471009	hsa-miR-548o	CLIP-seq
MIRT2694682	hsa-miR-578	CLIP-seq
MIRT1471014	hsa-miR-583	CLIP-seq
MIRT1471016	hsa-miR-630	CLIP-seq
MIRT2362451	hsa-miR-642b	CLIP-seq
MIRT2694683	hsa-miR-643	CLIP-seq
MIRT1471018	hsa-miR-888	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IBA
GO:0005515	Function	Protein binding	IPI	15231748, 17098253, 18199683, 18307982, 18497817, 20059542, 21988832, 23459205, 23541532, 24215460, 24811749, 25616961, 32296183, 32814053, 35914814, 36217029
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	18199683
GO:0005737	Component	Cytoplasm	IEA
GO:0005776	Component	Autophagosome	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IBA
GO:0006914	Process	Autophagy	IEA
GO:0016020	Component	Membrane	IEA
GO:0016241	Process	Regulation of macroautophagy	IBA
GO:0016241	Process	Regulation of macroautophagy	IMP	20529957
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031593	Function	Polyubiquitin modification-dependent protein binding	IBA
GO:0036503	Process	ERAD pathway	IBA
GO:0036503	Process	ERAD pathway	IEA
GO:0036503	Process	ERAD pathway	IMP	24215460
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0051051	Process	Negative regulation of transport	IEA
GO:0140693	Function	Molecular condensate scaffold activity	IDA	29526694
GO:1900186	Process	Negative regulation of clathrin-dependent endocytosis	IMP	18199683
GO:1904021	Process	Negative regulation of G protein-coupled receptor internalization	IMP	18199683
GO:1904294	Process	Positive regulation of ERAD pathway	IEA
GO:1904294	Process	Positive regulation of ERAD pathway	IMP	18307982
GO:2000785	Process	Regulation of autophagosome assembly	IMP	20529957

Other IDs

• MIM: 300264
• HGNC: 12509
• e!Ensembl: ENSG00000188021

Protein

• UniProt ID: Q9UHD9
• Protein name: Ubiquilin-2 (Chap1) (DSK2 homolog) (Protein linking IAP with cytoskeleton 2) (PLIC-2) (hPLIC-2) (Ubiquitin-like product Chap1/Dsk2)
• Protein function: Plays an important role in the regulation of different protein degradation mechanisms and pathways including ubiquitin-proteasome system (UPS), autophagy and the endoplasmic reticulum-associated protein degradation (ERAD) pathway. Mediates the p
• PDB: 1J8C, 2NBV, 6MUN, 7F7X
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00240	ubiquitin	33 → 105	Ubiquitin family	Domain
  PF00627	UBA	581 → 618	UBA/TS-N domain	Domain

• Sequence:

  MAENGESSGPPRPSRGPAAAQGSAAAPAEPKIIKVTVKTPKEKEEFAVPENSSVQQFKEA
  ISKRFKSQTDQLVLIFAGKILKDQDTLIQHGIHDGLTVHLVIKSQNRPQGQSTQPSNAAG
  TNTTSASTPRSNSTPISTNSNPFGLGSLGGLAGLSSLGLSSTNFSELQSQMQQQLMASPE
  MMIQIMENPFVQSMLSNPDLMRQLIMANPQMQQLIQRNPEISHLLNNPDIMRQTLEIARN
  PAMMQEMMRNQDLALSNLESIPGGYNALRRMYTDIQEPMLNAAQEQFGGNPFASVGSSSS
  SGEGTQPSRTENRDPLPNPWAPPPATQSSATTSTTTSTGSGSGNSSSNATGNTVAAANYV
  ASIFSTPGMQSLLQQITENPQLIQNMLSAPYMRSMMQSLSQNPDLAAQMMLNSPLFTANP
  QLQEQMRPQLPAFLQQMQNPDTLSAMSNPRAMQALMQIQQGLQTLATEAPGLIPSFTPGV
  GVGVLGTAIGPVGPVTPIGPIGPIVPFTPIGPIGPIGPTGPAAPPGSTGSGGPTGPTVSS
  AAPSETTSPTSESGPNQQFIQQMVQALAGANAPQLPNPEVRFQQQLEQLNAMGFLNREAN
  LQALIATGGDINAAIERLLGSQPS

• Sequence length: 624

Pathways

KEGG:

Protein processing in endoplasmic reticulum
Amyotrophic lateral sclerosis

Reactome:

Cargo recognition for clathrin-mediated endocytosis

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
Amyotrophic lateral sclerosis type 15	Pathogenic	rs387906709, rs387906710, rs387906711	RCV000022842 RCV000022843 RCV000022844	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
UBQLN2-related disorder	Likely pathogenic	rs2519963370	RCV003402318	★★★★☆ 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, ClinVar, Disgenet, Orphanet CTD, ClinVar, Disgenet, Orphanet CTD, ClinVar, Disgenet, Orphanet CTD, ClinVar, Disgenet, Orphanet CTD, ClinVar, Disgenet, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis, Dominant	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA, VASCULAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ 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
Alzheimer Disease	Alzheimer disease	Pubtator	24086754	Inhibit	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	21857683, 21901496, 22169395, 22246868, 22426854, 22477152, 22560112, 22676852, 22717235, 22766032, 22892309, 22918486, 23041957, 23138764, 23312802, 23582661, 23944734, 23973441, 24549040, 24684794, 25246588, 25388785, 25398946, 25616961, 25681989, 26013250, 26075709, 26152284, 27456931, 27480424, 27518558, 27604643, 28125704, 28716533, 29161404, 29247619, 29547719, 29936333, 30348461, 30377984, 30409191, 30442662, 30982635, 31167121, 31319884, 31516068, 31802140, 31820696		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	21857683, 22426854, 22766032, 23541532, 24086754, 25681989, 26075709, 28125704, 28430856, 28716533, 30442662, 30982635, 31167121, 32413959, 32731393, 34129687, 34303705, 34750982, 35777956, 36674783, 36951542, 37208601, 37257946	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	ORPHANET_DG	24085347		★★★☆☆ 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	Amyotrophic Lateral Sclerosis	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	21857683, 23541532, 24086754, 25681989, 28125704, 36232630, 37257946	Associate	★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	BEFREE	23138764		★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA	Amyotrophic Lateral Sclerosis, With Or Without Frontotemporal Dementia	GENOMICS_ENGLAND_DG	21857683		★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA	Amyotrophic Lateral Sclerosis, With Or Without Frontotemporal Dementia	UNIPROT_DG	21857683, 22560112, 22717235, 22892309, 24215460, 25616961		★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA	Amyotrophic Lateral Sclerosis, With Or Without Frontotemporal Dementia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA	Amyotrophic Lateral Sclerosis, With Or Without Frontotemporal Dementia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	BEFREE	22676852, 22717235, 28489002, 30348461		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	28125704		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32293796	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	25388785, 27834214		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	21857683, 22169395, 22560112, 25246588, 26152284, 30982635		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	21857683, 24086754, 30982635	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	BEFREE	23944734		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	21901496, 22246868, 22717235, 22892309, 23138764, 23944734, 25179229, 25398946, 28125704, 28716533, 29161404, 30348461, 30377984, 30442662, 31319884, 31802140		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	28125704, 28716533, 30442662, 31665086, 32413959, 34130600, 34303705, 34750982, 35777956, 35964197, 36232630	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia With Motor Neuron Disease	Frontotemporal Dementia With Motor Neuron Disease	BEFREE	24684794		★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	22426854, 22477152, 23041957, 23312802, 23582661, 25179229, 25388785, 27456931		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen storage disease	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	26141599		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	23944734, 25388785, 27834214		★☆☆☆☆ Found in Text Mining only
Laryngospasm	Laryngospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	31167121, 31665086, 32413959, 35777956, 36232630, 39769213	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	35063704	Associate	★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	26141599		★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	27834214		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	28716533	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	29247619		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	21857683, 24086754, 24771548, 30442662, 33431932, 35777956, 37257946	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	26141599, 30333186, 30409191, 30442662		★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	28716533	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31820696		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	22246868, 22717235, 23138764, 30348461, 31319884		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	21857683, 22169395, 22560112, 25246588, 26152284, 30982635		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoschisis	Retinoschisis	Pubtator	21857683	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	28716533		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	28716533	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	28716533		★☆☆☆☆ Found in Text Mining only
Torsades de Pointes	Torsades de pointes	Pubtator	25756586	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	26303000		★☆☆☆☆ Found in Text Mining only