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Results for the Protein: Q04721
143811429

NOTC2_HUMAN RecName: Full=Neurogenic locus notch homolog protein 2; Short=Notch 2; Short=hN2; Contains: RecName: Full=Notch 2 extracellular truncation; Contains: RecName: Full=Notch 2 intracellular domain; Flags: Precursor

Known Diseases associated with this Protein:
  ALAGILLE SYNDROME 2
  ALAGILLE SYNDROME 2 (ALGS2)
  HAJDU-CHENEY SYNDROME
7
3
6
2
2
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 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

EGF_CA - cd00054
EGF_CA - smart00179
EGF - cd00053
EGF - smart00181
EGF - pfam00008
EGF_CA - pfam07645
EGF_2 - pfam07974
NL - smart00004
Notch - pfam00066
NOD - pfam06816
NODP - pfam07684
Arp - COG0666
ANK - cd00204
Ank - pfam00023
ANK - smart00248
DUF3454 - pfam11936


Swiss-Prot Protein: Q04721
Identical to: NP_077719
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
EGF_CAcd000540.0001364102
EGFcd000537.8e-0967102
EGF_CAcd000540.00027105143
EGFcd000531.8e-09108143
EGF_CAcd000544.5e-07144180
EGFcd000533.1e-09147180
EGF_CAcd000541.3e-15182219
EGFcd000531.1e-12185219
EGF_CAcd000547.6e-05221258
EGFcd000531e-09224258
EGF_CAcd000544.6e-10260296
EGFcd000539.2e-09263296
EGF_CAcd000546.1e-11298336
EGFcd000534.5e-09301336
EGF_CAcd000546e-09338374
EGFcd000533.7e-06341374
EGFcd000532.7e-07378413
EGF_CAcd000541.3e-15415454
EGFcd000531.5e-12418454
EGF_CAcd000541.2e-16456492
EGFcd000532.4e-13459492
EGF_CAcd000543.7e-16494530
EGFcd000532.4e-13497530
EGF_CAcd000545.7e-15532568
EGFcd000538.1e-12535568
EGF_CAcd000541.5e-10570605
EGFcd000537.8e-10573605
EGF_CAcd000541.2e-13607643
EGFcd000532e-10610643
EGF_CAcd000542.4e-11645680
EGFcd000535.3e-10648680
EGF_CAcd000542.2e-13682718
EGFcd000531.1e-08685718
EGF_CAcd000544.2e-10720755
EGFcd000534.3e-08723755
EGF_CAcd000541.1e-15757793
EGFcd000531.1e-12760793
EGF_CAcd000541.7e-13795831
EGFcd000537e-11798831
EGF_CAcd000547.1e-06833871
EGFcd000534.6e-10836871
EGF_CAcd000541.2e-16873909
EGFcd000535.7e-13876909
EGF_CAcd000542.9e-15911947
EGFcd000535.6e-12914947
EGF_CAcd000541.2e-14949985
EGFcd000536.2e-12952985
EGF_CAcd000542.5e-139871023
EGFcd000532.5e-109901023
EGF_CAcd000547.1e-1710251061
EGFcd000533.8e-1310281061
EGF_CAcd000546.2e-0610631099
EGFcd000532.7e-0710661099
EGFcd000532.1e-0811041147
EGF_CAcd000542e-1511491185
EGFcd000531.7e-1311521185
EGF_CAcd000547.5e-1511871223
EGFcd000534.7e-1211901223
EGF_CAcd000543.4e-1312251262
EGFcd000537.6e-1112281262
EGF_CAcd000542.1e-0812641302
EGFcd000531.7e-0512671302
EGFcd000532.1e-0813071343
EGFcd000531.2e-0613771412
ArpCOG06669.3e-1717792065
ANKcd002041e-1017821930
ANKcd002043.8e-3219382063
EGFpfam000083.1e-0668100
EGFpfam000086e-08109141
EGFpfam000082e-05148178
EGFpfam000082.1e-08186217
EGFpfam000082.6e-05225256
EGFpfam000082e-06264294
EGFpfam000081.6e-05379411
EGFpfam000081.7e-07419452
EGFpfam000086.3e-08460490
EGFpfam000081.5e-08498528
EGFpfam000088.4e-09536566
EGFpfam000083.1e-06574603
EGFpfam000082.1e-07611641
EGFpfam000088.3e-09649678
EGFpfam000080.00054686716
EGFpfam000086.1e-05724753
EGFpfam000087.8e-07761791
EGFpfam000083e-09799829
EGFpfam000084e-09837869
EGFpfam000081.2e-07877907
EGFpfam000087.7e-09915945
EGFpfam000082.8e-08953983
EGFpfam000083.9e-089911021
EGFpfam000082.2e-1010291059
EGFpfam000082.1e-0510671097
EGFpfam000080.0007911161145
EGFpfam000083.2e-0911531183
EGFpfam000086.1e-0711911221
EGFpfam000082.1e-0712291260
EGFpfam000084e-0613081341
EGFpfam000080.0007213781410
Notchpfam000664.8e-1814201456
Notchpfam000664.8e-0714611497
Notchpfam000665.7e-1414981535
Ankpfam000233.3e-1518271874
Ankpfam000231.9e-0718761908
Ankpfam000232.8e-0619431975
Ankpfam000231.4e-0619762008
Ankpfam000230.0001320092041
EGF_CAsmart001790.0006864102
EGFsmart001814.3e-0867102
EGFsmart001811.2e-08108143
EGF_CAsmart001790.00033146180
EGFsmart001811e-07147180
EGF_CApfam076459.1e-11182218
EGF_CAsmart001791.6e-16182219
EGFsmart001815.7e-12185219
EGFsmart001814e-08224258
EGF_CAsmart001790.001225258
EGF_CAsmart001794.1e-10260296
EGFsmart001811.5e-06263296
EGF_CApfam076452.2e-07298335
EGF_CAsmart001796e-11298336
EGFsmart001814.9e-08301336
EGF_CAsmart001794.1e-09338374
EGFsmart001810.00014341374
EGFsmart001813.5e-05378413
EGF_CApfam076451.5e-07415453
EGF_CAsmart001791.7e-16415454
EGFsmart001811.1e-10418454
EGF_CApfam076451.2e-07456491
EGF_CAsmart001792e-16456492
EGFsmart001812.7e-11459492
EGF_CAsmart001797.8e-16494530
EGFsmart001812.8e-11497530
EGF_CAsmart001797e-15532568
EGFsmart001815.3e-10535568
EGF_CAsmart001796.7e-10570605
EGFsmart001819.5e-09573605
EGF_CAsmart001796.7e-13607643
EGFsmart001817.5e-09610643
EGF_CAsmart001796.9e-11645680
EGFsmart001811.5e-08648680
EGF_CApfam076450.00014682717
EGF_CAsmart001794.9e-14682718
EGFsmart001818.3e-07685718
EGF_CAsmart001791e-09720755
EGFsmart001814.2e-07723755
EGF_CAsmart001799e-16757793
EGFsmart001814.9e-11760793
EGF_CAsmart001796.5e-13795831
EGFsmart001814.2e-09798831
EGFsmart001816e-09836871
EGF_CApfam076451.3e-08873908
EGF_CAsmart001796.2e-17873909
EGFsmart001811.3e-11876909
EGF_CAsmart001795.1e-15911947
EGFsmart001812e-09914947
EGF_CAsmart001793.5e-14949985
EGFsmart001813.5e-10952985
EGF_CAsmart001791.2e-139871023
EGFsmart001815.1e-099901023
EGF_CAsmart001791.8e-1610251061
EGFsmart001811.1e-1110281061
EGF_2pfam079740.0008610291060
EGFsmart001813.1e-0510661099
EGF_2pfam079740.0005110671098
EGFsmart001811.9e-0811041147
EGF_CAsmart001792e-1511491185
EGF_CApfam076454.6e-0511501184
EGFsmart001817.1e-1211521185
EGF_CAsmart001795.6e-1511871223
EGFsmart001812.3e-1011901223
EGF_CAsmart001794e-1312251262
EGFsmart001812.5e-1012281262
EGF_CAsmart001791.6e-0812641302
EGFsmart001813.1e-0512671302
EGFsmart001812e-0713071343
EGFsmart001813.8e-0513771412
NLsmart000041.6e-1814181455
NLsmart000041.8e-1114591496
NLsmart000047.3e-1314971534
NODpfam068161.4e-3215391594
NODPpfam076843.5e-2716171676
ANKsmart002484.3e-0519762005
ANKsmart002480.0002920092038
DUF3454pfam119361.5e-2923802445

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs139076095 Polymorphismp.ALA21THRN/A
dbSNPrs11810554 Polymorphismp.CYS19TRPN/A
Swiss-ProtVAR_029361Diseasep.CYS444TYRAlagille syndrome 2 (ALGS2)
Swiss-ProtVAR_031463Polymorphismp.VAL1667PHEN/A
OMIM600275.0002 Diseasep.CYS444TYRALAGILLE SYNDROME 2
OMIM600275.0005 Diseasep.GLN2208TERHAJDU-CHENEY SYNDROME
OMIM600275.0007 Diseasep.GLN2317TERHAJDU-CHENEY SYNDROME
OMIM600275.0009 Diseasep.GLN2389TERHAJDU-CHENEY SYNDROME
OMIM600275.0008 Diseasep.GLU2299TERHAJDU-CHENEY SYNDROME
OMIM600275.0006 Diseasep.TYR2373TERHAJDU-CHENEY SYNDROME



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