Results for the protein: NP

Results for the Protein: NP_001020018

67782326

7048

TGFBR2

NCBI

TGF-beta receptor type-2 isoform A precursor [Homo sapiens]

Known Diseases associated with this Protein:
  COLON CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6, SOMATIC, INCLUDED
  COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6
  ESOPHAGEAL CANCER, SOMATIC
  LOEYS-DIETZ SYNDROME, TYPE 1B
  LOEYS-DIETZ SYNDROME, TYPE 1B, INCLUDED
  LOEYS-DIETZ SYNDROME, TYPE 2B

16

0

16

0

0

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.

RefSeq Protein: NP_001020018

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
STKc_myosinIIIB	cd06639	0.00033	249	536
STKc_PAK	cd06614	2.9e-07	252	567
PTKc_FGFR2	cd05101	0.00018	253	580
STKc_MAP4K4_6	cd06636	0.00033	255	535
STKc_p38	cd07851	0.00026	255	587
PTKc_FGFR	cd05053	4.2e-06	256	573
PTKc_EGFR_like	cd05057	0.00012	258	580
PTK_HER3	cd05111	0.00073	258	575
PKc_MKK7	cd06618	0.00029	258	569
PTKc_HER2	cd05109	7.8e-05	259	580
STKc_MAP4K3	cd06645	0.00039	259	560
STKc_MAP4K5	cd06646	0.001	259	534
PTK_CCK4	cd05046	0.0005	260	565
STKc_ASK	cd06624	0.00041	260	564
STKc_STK10_LOK	cd06644	0.00024	260	580
PTKc_Abl	cd05052	7.5e-05	262	567
PTKc_FAK	cd05056	6.8e-06	262	571
PTKc_Frk_like	cd05068	8.8e-06	262	566
PTKc_Fyn_Yrk	cd05070	0.00043	262	563
PTKc_Hck	cd05073	0.00012	262	563
PTKc_Csk	cd05082	5.1e-05	262	566
PTKc_Chk	cd05083	0.00015	262	566
PTKc_FGFR1	cd05098	0.00013	262	580
STKc_PCTAIRE_like	cd07844	0.00091	262	583
STKc_CDK12	cd07864	7.2e-05	262	564
PTKc_Ror	cd05048	1.8e-06	263	566
PTKc_Trk	cd05049	2e-07	263	565
PTKc_Tie2	cd05088	0.00035	263	561
PTKc_ALK_LTK	cd05036	1.1e-05	264	565
PTKc_EphR	cd05033	7.4e-07	264	567
PTKc_EphR_B	cd05065	0.00011	264	536
PTKc_EphR_A	cd05066	0.00063	264	542
PKc_MKK3_6	cd06617	7.1e-06	264	544
PTKc_InsR_like	cd05032	1.1e-06	265	565
PTKc_EphR_A2	cd05063	3.2e-05	265	567
PTKc_Itk	cd05112	0.00034	266	564
PTKc_Btk_Bmx	cd05113	0.00014	266	564
STKc_SLK_like	cd06611	9.1e-06	266	580
STKc_SLK	cd06643	5.8e-05	266	582
STKc_Nek6_Nek7	cd08224	6.5e-05	266	540
STKc_Nek6	cd08228	0.00013	266	539
STKc_Nek7	cd08229	0.00011	266	568
PTKc_Jak_rpt2	cd05038	1.4e-08	267	567
PTK_Ryk	cd05043	2.5e-05	267	566
PTKc_Yes	cd05069	0.00099	267	563
PTKc_Src	cd05071	0.00066	267	565
PTKc_DDR2	cd05095	0.00077	267	565
PTKc_FGFR4	cd05099	1.7e-05	267	584
PTKc_Srm_Brk	cd05148	2.3e-08	267	566
STKc_myosinIII_like	cd06608	5.6e-08	267	509
PTKc_Ror2	cd05091	0.00047	268	566
STKc_MAPKKK	cd06606	4.7e-12	268	509
STKc_MEKK3_like	cd06625	5.5e-07	268	535
STKc_Cdc7_like	cd06627	1.1e-08	268	509
STKc_MEKK3	cd06651	1.1e-05	268	537
STKc_MEKK3_like_1	cd06653	0.00013	268	551
STKc_MAPK	cd07834	4.9e-05	268	585
PTKc_Src_like	cd05034	2.2e-05	269	566
PTKc_Axl_like	cd05035	0.00012	269	567
PTKc_Csk_like	cd05039	1.8e-05	269	510
PTKc_Musk	cd05050	2.3e-06	269	565
PTKc_Jak1_rpt2	cd05079	0.00057	269	567
PTKc_Tie1	cd05089	0.00093	269	552
PTKc_Tyro3	cd05074	0.00071	269	567
PTKc_Tyk2_rpt2	cd05080	7.9e-06	269	568
PKc_MAPKK	cd06605	1.1e-06	269	540
PKc_MAPKK_plant_like	cd06623	2.8e-06	269	565
STKc_TNIK	cd06637	4.5e-05	269	535
STKc_CDKL1_4	cd07847	0.0008	269	565
PKc_STE	cd05122	4.3e-10	270	563
STKc_PDK1	cd05581	1.9e-08	270	529
STKc_CRIK	cd05601	0.0005	270	582
STKc_OSR1_SPAK	cd06610	6.6e-06	270	509
STKc_MST1_2	cd06612	1.7e-05	270	509
STKc_MAP4K3_like	cd06613	1.7e-07	270	563
STKc_CDKL	cd07833	0.00025	270	564
STKc_CDK_like	cd07829	3.9e-05	270	564
STKc_CDK4_6_like	cd07838	0.00019	270	509
STKc_CDK9_like	cd07840	0.00052	270	563
STKc_CDK7	cd07841	5.1e-05	270	583
STKc_CDKL2_3	cd07846	0.00015	270	564
STKc_CdkB_plant	cd07837	0.00032	270	565
STKc_Nek	cd08215	7.8e-08	270	565
STKc_Nek2	cd08217	0.00013	270	535
STKc_CNK2-like	cd08530	0.00023	270	566
STKc_MEKK4	cd06626	2.3e-06	272	558
STKc_MAPKKK_Byr2_lik	cd06628	0.00034	272	547
PTKc	cd00192	1.6e-12	273	564
PTKc_Ack_like	cd05040	3.9e-06	273	565
PTKc_c-ros	cd05044	0.00037	273	565
PTKc_Tie	cd05047	0.0006	273	540
PTKc_Met_Ron	cd05058	0.00097	273	569
PTKc_Jak2_Jak3_rpt2	cd05081	4.8e-06	273	567
PTKc_Aatyk1_Aatyk3	cd05087	0.001	273	565
STKc_MAPKKK_Bck1_lik	cd06629	7.1e-07	274	535
STKc_MEKK1_plant	cd06632	0.0001	274	559
STKc_NAK1_like	cd06917	4.7e-05	274	573
PKc	cd00180	8e-46	275	566
PTKc_Syk_like	cd05060	0.00099	275	568
STKc_CMGC	cd05118	2e-07	275	564
STKc_AGC	cd05123	1.1e-06	275	569
STKc_MAST_like	cd05579	0.00021	275	568
STKc_GRK7	cd05607	0.00076	275	584
STKc_MAK_like	cd07830	0.00062	275	564
STKc_CCRK	cd07832	0.00017	275	564
STKc_PAK_II	cd06648	0.00089	293	582
PKc_MEK	cd06615	3.9e-05	334	580
Pkinase	pfam00069	2.7e-52	269	563
ecTbetaR2	pfam08917	3.7e-74	72	178
Pkinase_Tyr	pfam07714	1.8e-17	269	563
TyrKc	smart00219	2.3e-15	269	563
STYKc	smart00221	1.9e-24	269	547
S_TKc	smart00220	9.7e-26	279	564

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
OMIM	190182.0009	Disease	p.ALA355PRO	LOEYS-DIETZ SYNDROME, TYPE 1B
OMIM	190182.0014	Disease	p.ARG460CYS	LOEYS-DIETZ SYNDROME, TYPE 2B
OMIM	190182.0012	Disease	p.ARG528CYS	LOEYS-DIETZ SYNDROME, TYPE 1B
OMIM	190182.0007	Disease	p.ARG537CYS	LOEYS-DIETZ SYNDROME, TYPE 2B
OMIM	190182.0015	Disease	p.ARG460HIS	LOEYS-DIETZ SYNDROME, TYPE 2B
OMIM	190182.0011	Disease	p.ARG528HIS	LOEYS-DIETZ SYNDROME, TYPE 1B\|\|COLON CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6, SOMATIC, INCLUDED
OMIM	190182.0019	Disease	p.ARG495TER	LOEYS-DIETZ SYNDROME, TYPE 1B
OMIM	190182.0004	Disease	p.GLN508GLN	LOEYS-DIETZ SYNDROME, TYPE 2B
OMIM	190182.0003	Disease	p.GLU526GLN	ESOPHAGEAL CANCER, SOMATIC
OMIM	190182.0010	Disease	p.GLY357TRP	LOEYS-DIETZ SYNDROME, TYPE 1B
OMIM	190182.0005	Disease	p.LEU308PRO	LOEYS-DIETZ SYNDROME, TYPE 2B\|\|LOEYS-DIETZ SYNDROME, TYPE 1B, INCLUDED
OMIM	190182.0017	Disease	p.MET425VAL	LOEYS-DIETZ SYNDROME, TYPE 2B
OMIM	190182.0018	Disease	p.PRO427LEU	LOEYS-DIETZ SYNDROME, TYPE 2B
OMIM	190182.0006	Disease	p.SER449PHE	LOEYS-DIETZ SYNDROME, TYPE 2B
OMIM	190182.0002	Disease	p.THR315MET	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6
OMIM	190182.0008	Disease	p.TYR336ASN	LOEYS-DIETZ SYNDROME, TYPE 1B

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