Results for the protein: P25092

Results for the Protein: P25092

311033390

2984

GUCY2C

NCBI, UniProt

GUC2C_HUMAN RecName: Full=Heat-stable enterotoxin receptor; Short=STA receptor; Short=hSTAR; AltName: Full=Guanylyl cyclase C; Short=GC-C; AltName: Full=Intestinal guanylate cyclase; Flags: Precursor

Known Diseases associated with this Protein:
  DIARRHEA 6
  DIARRHEA 6 (DIAR6)
  MECONIUM ILEUS
  MECONIUM ILEUS (MECIL)

4

9

2

1

10

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.

Swiss-Prot Protein: P25092

Identical to: NP_004954

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PBP1_ABC_transporter	cd04509	9.7e-16	36	382
PBP1_NPR_GC_like	cd06352	1.7e-93	36	407
PBP1_NPR_like	cd06373	7.7e-06	36	407
PTKc_PDGFR_alpha	cd05105	0.00038	351	751
PTKc_Kit	cd05104	0.0001	371	749
PTKc_PDGFR	cd05055	4e-06	390	749
PTKc_DDR	cd05051	0.00027	455	747
PTKc_EGFR_like	cd05057	3.6e-06	455	754
PTKc_FGFR1	cd05098	2.4e-05	459	756
PTKc_FGFR2	cd05101	1e-05	460	756
PTKc_FAK	cd05056	7.4e-07	461	753
PTKc_DDR2	cd05095	0.00056	462	747
PTKc_FGFR4	cd05099	1.5e-06	464	774
PTKc_InsR	cd05061	0.00063	468	760
PTK_CCK4	cd05046	3.3e-06	470	747
PTKc_Axl_like	cd05035	4.2e-05	477	749
PKc	cd00180	3.9e-28	479	745
PTKc_Abl	cd05052	1.1e-07	479	749
PTKc_EphR_A2	cd05063	2.6e-06	480	749
PTKc_Met_Ron	cd05058	9.8e-05	480	751
STKc_TAO	cd06607	0.00053	481	787
PTKc_Fer	cd05085	9.1e-06	482	747
STKc_PAK	cd06614	5.1e-08	482	723
PTKc_EphR_A10	cd05064	1.9e-06	483	749
PTKc_Lck_Blk	cd05067	2e-06	483	748
PTKc_Yes	cd05069	5.6e-06	483	748
PTKc_Fyn_Yrk	cd05070	4.9e-05	483	748
PTKc_Src	cd05071	6.2e-05	483	750
PTKc_Lyn	cd05072	2.4e-07	483	748
PTKc_Hck	cd05073	1e-07	483	748
PTKc_Tie1	cd05089	2e-05	483	766
PTKc_Ror1	cd05090	6.3e-05	483	748
PTKc_Ror2	cd05091	7.1e-06	483	748
PTKc_TrkB	cd05093	7.1e-06	483	754
PTKc_Btk_Bmx	cd05113	4.5e-10	483	746
PTKc_Tec_Rlk	cd05114	5.5e-08	483	746
PTKc_Frk_like	cd05068	4.7e-08	483	748
STKc_MST4	cd06640	0.00016	483	772
STKc_MST3	cd06641	3.9e-05	483	772
PTKc_EphR_B	cd05065	5.2e-07	484	749
PTKc_Jak1_rpt2	cd05079	7.9e-05	484	749
PTKc_Itk	cd05112	7.3e-09	484	746
STKc_PDK1	cd05581	0.00017	484	749
PTKc_Chk	cd05083	1.7e-07	485	748
STKc_PAK_II	cd06648	0.00068	485	765
PTKc_Tie2	cd05088	3.7e-06	486	776
PTKc_Tyro3	cd05074	0.00011	487	749
PTKc_Csk	cd05082	1.4e-07	487	748
PTKc_Zap-70	cd05115	7.7e-05	487	750
SPS1	COG0515	4.2e-05	487	916
PTKc_EphR	cd05033	9.8e-08	489	749
PTKc_Csk_like	cd05039	2.1e-08	489	748
PTKc_Syk	cd05116	4.7e-05	489	750
PTKc_RET	cd05045	1.5e-05	490	752
PTKc_Fes	cd05084	5.5e-07	490	747
PTKc_FGFR	cd05053	2.3e-06	491	750
PTKc_IGF-1R	cd05062	7.2e-05	491	747
STKc_OSR1_SPAK	cd06610	1.4e-06	492	738
STKc_STK25-YSK1	cd06642	8e-05	492	772
PTKc_ALK_LTK	cd05036	7.1e-06	493	747
PTK_Jak_rpt1	cd05037	6.8e-05	493	746
PTKc_Jak2_Jak3_rpt2	cd05081	2.6e-08	493	749
STKc_MAP4K3_like	cd06613	7e-05	493	749
STKc_Nek8	cd08220	0.00065	493	750
PTKc_Musk	cd05050	6e-07	494	747
PTKc_EphR_A	cd05066	1.1e-06	494	749
PTKc_Tyk2_rpt2	cd05080	6.1e-07	494	754
PKc_STE	cd05122	5.1e-09	494	738
PTKc_Jak_rpt2	cd05038	7.4e-09	495	749
PTKc_TrkA	cd05092	6.1e-06	495	747
PTKc_TrkC	cd05094	0.00014	495	754
PTKc_InsR_like	cd05032	4.1e-08	496	747
PTKc_Trk	cd05049	4.1e-08	496	747
PTKc_Src_like	cd05034	2.1e-09	497	748
PTKc_Ror	cd05048	4.7e-08	497	748
PTKc_Srm_Brk	cd05148	1e-08	497	748
STKc_Nek	cd08215	1.9e-06	497	750
PTKc_Tie	cd05047	3.6e-05	498	750
PKc_MAPKK_plant_like	cd06623	4.3e-05	498	743
STKc_MAPKKK	cd06606	2.4e-07	499	738
PTKc_Ack_like	cd05040	2e-09	501	747
PTKc_Fes_like	cd05041	2.4e-10	501	747
PTKc_Syk_like	cd05060	5.2e-07	501	750
STKc_MST3_like	cd06609	0.00018	501	759
STKc_MEKK4	cd06626	7.9e-05	501	739
PTKc	cd00192	4.9e-11	504	746
STKc_MST1_2	cd06612	2.4e-05	506	739
STKc_Cdc7_like	cd06627	3.4e-05	507	741
STKc_YSK4	cd06631	0.00023	507	739
PTKc_Tec_like	cd05059	1.5e-10	510	746
PTKc_c-ros	cd05044	4.4e-05	517	747
CHD	cd07302	5.3e-68	822	1000
Nucleotidyl_cyc_III	cd07556	1.5e-39	822	963
ANF_receptor	pfam01094	6.3e-46	53	386
Pkinase	pfam00069	2.5e-10	497	745
CyaA	COG2114	1.3e-27	775	1010
Guanylate_cyc	pfam00211	3.4e-102	815	1001
TyrKc	smart00219	3e-12	494	745
STYKc	smart00221	2.6e-06	494	747
Pkinase_Tyr	pfam07714	2.3e-14	500	745
S_TKc	smart00220	2.7e-09	502	749
CYCc	smart00044	1.4e-104	788	981

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_042223	Polymorphism	p.ARG114GLN	N/A
Swiss-Prot	VAR_042224	Polymorphism	p.ARG464LEU	N/A
Swiss-Prot	VAR_068174	Disease	p.ASP387GLY	Meconium ileus (MECIL)
Swiss-Prot	VAR_042221	Polymorphism	p.CYS30ARG	N/A
Swiss-Prot	VAR_042227	Polymorphism	p.GLN1045ARG	N/A
Swiss-Prot	VAR_042225	Polymorphism	p.GLU610LYS	N/A
Swiss-Prot	VAR_042222	Polymorphism	p.GLY61ARG	N/A
Swiss-Prot	VAR_042226	Polymorphism	p.ILE859VAL	N/A
dbSNP	rs1420635	Polymorphism	p.PHE281LEU	N/A
Swiss-Prot	VAR_067724	Disease	p.SER840ILE	Diarrhea 6 (DIAR6)
Swiss-Prot	VAR_042228	Polymorphism	p.TYR1072CYS	N/A
OMIM	601330.0002	Disease	p.ASP387GLY	MECONIUM ILEUS
OMIM	601330.0001	Disease	p.SER840ILE	DIARRHEA 6

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.

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