Results for the protein: Q9UHD9

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Database Statistics

Results for the Protein: Q9UHD9

124056593

29978

UBQLN2

NCBI, UniProt

UBQL2_HUMAN RecName: Full=Ubiquilin-2; AltName: Full=Chap1; AltName: Full=DSK2 homolog; AltName: Full=Protein linking IAP with cytoskeleton 2; Short=PLIC-2; Short=hPLIC-2; AltName: Full=Ubiquitin-like product Chap1/Dsk2

Known Diseases associated with this Protein:
AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (ALS15)

13

4

5

1

11

Tips:

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Default View: UBQ - smart00213 RAD23_N - cd01805 BAG1_N - cd01812 Scythe_N - cd01809 hPLIC_N - cd01808 Rad60-SLD - pfam11976 Nedd8 - cd01806 parkin_N - cd01798 UBL - cd01769 UBQ - cd00196 ubiquitin - pfam00240 STI1 - smart00727 UBA - pfam00627 UBA - smart00165 UBA - cd00194	Swiss-Prot Protein: Q9UHD9 Identical to: NP_038472 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Nedd8	cd01806	0.00042	33	107
hPLIC_N	cd01808	2.9e-44	33	103
Scythe_N	cd01809	2.2e-10	33	104
BAG1_N	cd01812	0.00045	33	103
parkin_N	cd01798	0.00021	35	103
UBQ	cd00196	3.4e-13	36	103
UBL	cd01769	1.4e-19	36	103
UBA	cd00194	1e-11	582	620
ubiquitin	pfam00240	3.5e-19	38	105
UBA	pfam00627	1.3e-07	581	618
Rad60-SLD	pfam11976	2.4e-05	33	102
UBQ	smart00213	1.3e-12	33	96
STI1	smart00727	3.9e-11	208	247
STI1	smart00727	5.8e-12	379	426
UBA	smart00165	9.6e-08	582	619

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_068895	Disease	p.ALA283THR	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15)
Swiss-Prot	VAR_068894	Polymorphism	p.ALA282VAL	N/A
Swiss-Prot	VAR_068896	Disease	p.GLN425ARG	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15)
dbSNP	rs17002693	Polymorphism	p.LEU235HIS	N/A
Swiss-Prot	VAR_066562	Disease	p.PRO497HIS	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15)
Swiss-Prot	VAR_066563	Disease	p.PRO497SER	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15)
Swiss-Prot	VAR_066565	Disease	p.PRO509SER	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15)
Swiss-Prot	VAR_066566	Disease	p.PRO525SER	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15)
Swiss-Prot	VAR_068893	Polymorphism	p.PRO189THR	N/A
Swiss-Prot	VAR_066564	Disease	p.PRO506THR	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15)
Swiss-Prot	VAR_068892	Polymorphism	p.SER155ASN	N/A
Swiss-Prot	VAR_068897	Disease	p.THR487ILE	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15)
OMIM	300264.0001	Disease	p.PRO497HIS	AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
OMIM	300264.0002	Disease	p.PRO497SER	AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
OMIM	300264.0004	Disease	p.PRO509SER	AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
OMIM	300264.0005	Disease	p.PRO525SER	AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
OMIM	300264.0003	Disease	p.PRO506THR	AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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