Results for the protein: Q86WG5

Results for the Protein: Q86WG5

74750502

81846

SBF2

NCBI, UniProt

MTMRD_HUMAN RecName: Full=Myotubularin-related protein 13; AltName: Full=SET-binding factor 2

Known Diseases associated with this Protein:
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA

3

3

3

2

1

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: uDENN - smart00800 uDENN - pfam03456 DENN - pfam02141 DENN - smart00799 dDENN - pfam03455 dDENN - smart00801 SBF2 - pfam12335 GRAM - smart00568 GRAM - pfam02893 Myotub-related - pfam06602 PH - smart00233 PH - pfam00169 PH_AGAP - cd01250 PH_Sbf1_hMTMR5 - cd01235 PH-like - cd00900 - cd01246 PH_FAPP1_FAPP2 - cd01247 PH - cd00821 PH_GRP1-like - cd01252 PH_TBC1D2A - cd01265	Swiss-Prot Protein: Q86WG5 Identical to: NP_112224 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PH-like	cd00900	7.1e-15	1746	1845
	cd01246	1.2e-08	1746	1845
PH_FAPP1_FAPP2	cd01247	4.5e-05	1746	1845
PH_AGAP	cd01250	1.8e-05	1746	1845
PH_Sbf1_hMTMR5	cd01235	2.2e-81	1746	1846
PH_GRP1-like	cd01252	0.0004	1747	1849
PH_TBC1D2A	cd01265	5.2e-05	1748	1847
uDENN	pfam03456	9.8e-38	1	86
DENN	pfam02141	2.6e-86	116	298
dDENN	pfam03455	7.9e-24	351	420
GRAM	pfam02893	7.5e-09	879	957
PH	pfam00169	9.2e-15	1744	1847
uDENN	smart00800	9.6e-33	1	86
DENN	smart00799	3.8e-71	117	298
dDENN	smart00801	1.8e-21	352	420
SBF2	pfam12335	8.2e-171	528	754
GRAM	smart00568	7.4e-17	878	957
Myotub-related	pfam06602	1.3e-28	1147	1242
PH	smart00233	1.6e-18	1744	1847

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs12574508	Polymorphism	p.GLN1216GLU	N/A
dbSNP	rs7102464	Polymorphism	p.GLU679LYS	N/A
Swiss-Prot	VAR_051766	Polymorphism	p.PRO303LEU	N/A
OMIM	607697.0003	Disease	p.ARG1196TER	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA
OMIM	607697.0004	Disease	p.ARG487TER	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA
OMIM	607697.0002	Disease	p.GLN956TER	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258