PDB ID 2IAE     CHAIN B
Protein name Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform
Uniprot Accession Q13362
The number of similar proteins 14
The number of binding states 6
The number of binding partners 6

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
2IAE (CHAIN: B)
1 P67775   Q96DH3  
2 Monomeric state
3 A0A1Y1CAL3  
4 O60566  
5 O95239  
6 Q5FBB7   P67775   Q76MZ3  

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Molecule viewer


Only interaction residues
#binding
partners
  3
  2
  1
  0

Sequence information

1   IRDVPPADQE   KLFIQKLRQC   CVLFDFVSDP   LSDLKWKEVK   RAALSEMVEY   50
51   ITHNRNVITE   PIYPEVVHMF   AVNMFRTLPP   SSNPTGAEFD   PEEDEPTLEA   100
101   AWPHLQLVYE   FFLRFLESPD   FQPNIAKKYI   DQKFVLQLLE   LFDSEDPRER   150
151   DFLKTTLHRI   YGKFLGLRAY   IRKQINNIFY   RFIYETEHHN   GIAELLEILG   200
201   SIINGFALPL   KEEHKIFLLK   VLLPLHKVKS   LSVYHPQLAY   CVVQFLEKDS   250
251   TLTEPVVMAL   LKYWPKTHSP   KEVMFLNELE   EILDVIEPSE   FVKIMEPLFR   300
301   QLAKCVSSPH   FQVAERALYY   WNNEYIMSLI   SDNAAKILPI   MFPSLYRNSK   350
351   THWNKTIHGL   IYNALKLFME   MNQKLFDDCT   QQFKAEKLKE   KLKMKEREEA   400
401   WVKIENL           450

Variants

Residue AA Source /
dbSNP		 Clinical
Significance
 Allele
Frequency
(> 0.0001)		 AlphaMissense
pathogenicity		 Disease name
31_ARG THR 8.3kJPN
chr14:102285420
-
- 0.0001 0.3398 -
49_CYS ARG VAR_090760
-
LP/P - - Houge-Janssens syndrome 4 (HJS4) [MIM:621185]
49_CYS ARG ClinVar
chr14:102323073
-
Likely pathogenic - - not provided [MedGen:C3661900]
51_VAL ILE 8.3kJPN
chr14:102323079
rs114821166
- 0.0001 0.0835 -
55_PHE LEU VAR_090762
-
US - - Houge-Janssens syndrome 4 (HJS4) [MIM:621185]
55_PHE VAL ClinVar
chr6:42974717
rs2532473884
Likely pathogenic - - Hogue-Janssens syndrome 1 [MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279]
69_LYS MET ClinVar
chr6:42974760
rs2150278470
Pathogenic - 0.997 Hogue-Janssens syndrome 1 [MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279]
74_ASN ASP 8.3kJPN
chr6:42974774
-
- 0.0001 - -
120_PRO ARG VAR_090763
-
US - - Houge-Janssens syndrome 4 (HJS4) [MIM:621185]
121_GLU LYS ClinVar
chr6:42975000
rs863225081
Pathogenic/Likely pathogenic - 0.998 Hogue-Janssens syndrome 1|not provided|PPP2R5D-related disorder [MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279|MedGen:C3661900|]
121_GLU GLY ClinVar
chr6:42975001
rs1339608272
Likely pathogenic - 0.9867 Hogue-Janssens syndrome 1 [MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279]
121_GLU GLN 8.3kJPN
chr6:42975000
-
- 0.0001 0.992 -
122_GLU LYS VAR_090764
-
LP/P - 0.9983 Houge-Janssens syndrome 4 (HJS4) [MIM:621185]
122_GLU LYS ClinVar
chr6:42975003
rs863225082
Pathogenic - 0.9983 Hogue-Janssens syndrome 1|not provided|Inborn genetic diseases|Global developmental delay|Intellectual disability|See cases|Neurodevelopmental delay [MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|Human Phenotype Ontology:HP:0000754,Human Phenotype Ontology:HP:0001255,Human Phenotype Ontology:HP:0001263,Human Phenotype Ontology:HP:0001277,Human Phenotype Ontology:HP:0001292,Human Phenotype Ontology:HP:0002433,Human Phenotype Ontology:HP:0002473,Human Phenotype Ontology:HP:0002532,Human Phenotype Ontology:HP:0006793,Human Phenotype Ontology:HP:0006867,Human Phenotype Ontology:HP:0006885,Human Phenotype Ontology:HP:0006935,Human Phenotype Ontology:HP:0007005,Human Phenotype Ontology:HP:0007094,Human Phenotype Ontology:HP:0007106,Human Phenotype Ontology:HP:0007174,Human Phenotype Ontology:HP:0007224,Human Phenotype Ontology:HP:0007228,Human Phenotype Ontology:HP:0007342,Human Phenotype Ontology:HP:0025356,MedGen:C0557874|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:HP:0002192,Human Phenotype Ontology:HP:0002316,Human Phenotype Ontology:HP:0002382,Human Phenotype Ontology:HP:0002386,Human Phenotype Ontology:HP:0002402,Human Phenotype Ontology:HP:0002458,Human Phenotype Ontology:HP:0002482,Human Phenotype Ontology:HP:0002499,Human Phenotype Ontology:HP:0002543,Human Phenotype Ontology:HP:0003767,Human Phenotype Ontology:HP:0006833,Human Phenotype Ontology:HP:0007154,Human Phenotype Ontology:HP:0007176,Human Phenotype Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756||Human Phenotype Ontology:HP:0012758,MedGen:C4022738]
124_GLU LYS VAR_090765
-
US - 0.997 Houge-Janssens syndrome 4 (HJS4) [MIM:621185]
124_GLU LYS ClinVar
chr6:42975009
rs863225079
Pathogenic/Likely pathogenic - 0.997 Hogue-Janssens syndrome 1|not provided|Inborn genetic diseases|PPP2R5D-related disorder [MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|]
125_PRO ARG ClinVar
chr6:42975013
rs876657383
Pathogenic - 0.9989 Hogue-Janssens syndrome 1|not provided [MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279|MedGen:C3661900]
127_LEU PRO ClinVar
chr6:42975019
rs2532475447
Likely pathogenic - - Hogue-Janssens syndrome 1 [MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279]
127_LEU ARG ClinVar
chr6:42975019
-
Likely pathogenic - - Hogue-Janssens syndrome 1 [MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279]
131_TRP ARG VAR_090768
-
LP/P - 0.9999 Houge-Janssens syndrome 4 (HJS4) [MIM:621185]
131_TRP ARG ClinVar
chr6:42975030
rs869320691
Pathogenic - 0.9999 Hogue-Janssens syndrome 1|not provided [MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279|MedGen:C3661900]
131_TRP ARG ClinVar
chr6:42975030
rs869320691
Pathogenic/Likely pathogenic - 0.9999 not provided|Hogue-Janssens syndrome 1|Genetic developmental and epileptic encephalopathy [MedGen:C3661900|MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279|MONDO:MONDO:0100062,MedGen:CN379639,OMIM:PS308350]
131_TRP CYS ClinVar
chr6:42975032
rs2150278805
Pathogenic/Likely pathogenic - 0.9998 Hogue-Janssens syndrome 1|not provided [MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279|MedGen:C3661900]
131_TRP CYS ClinVar
chr6:42975032
rs2150278805
Pathogenic - 0.9998 not provided [MedGen:C3661900]
131_TRP GLY ClinVar
chr6:42975030
-
Pathogenic - - Hogue-Janssens syndrome 1 [MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279]
131_TRP LEU ClinVar
chr6:42975031
-
Pathogenic - - not provided [MedGen:C3661900]
133_HIS LEU VAR_090769
-
LP/P - - Houge-Janssens syndrome 4 (HJS4) [MIM:621185]
133_HIS PRO VAR_090770
-
LP/P - - Houge-Janssens syndrome 4 (HJS4) [MIM:621185]
133_HIS ARG VAR_090771
-
LP/P - 0.9987 Houge-Janssens syndrome 4 (HJS4) [MIM:621185]
133_HIS ARG ClinVar
chr14:102348601
rs2140894443
Likely pathogenic - 0.9987 See cases [-]
133_HIS TYR ClinVar
chr6:42975036
rs2532475494
Pathogenic/Likely pathogenic - 0.9904 not provided|Hogue-Janssens syndrome 1 [MedGen:C3661900|MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279]
133_HIS GLN 8.3kJPN
chr6:42975038
-
- 0.0001 0.9973 -
134_LEU PRO VAR_090772
-
LP/P - - Houge-Janssens syndrome 4 (HJS4) [MIM:621185]
134_LEU PRO ClinVar
chr14:102348604
-
Likely pathogenic - - not provided [MedGen:C3661900]
141_PHE LEU ClinVar
chr6:42975167
rs2532476482
Likely pathogenic - 0.9707 Hogue-Janssens syndrome 1 [MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279]
155_ALA VAL 8.3kJPN
chr14:102349652
rs748009220
- 0.0002 0.9696 -
174_GLU LYS VAR_090773
-
US - - Houge-Janssens syndrome 4 (HJS4) [MIM:621185]
175_ASP VAL VAR_090774
-
US - - Houge-Janssens syndrome 4 (HJS4) [MIM:621185]
175_ASP ALA ClinVar
chr6:42975698
rs1064794719
Pathogenic - 0.9986 Inborn genetic diseases|Hogue-Janssens syndrome 1|not provided|Seizure [MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279|MedGen:C3661900|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:HP:0002279,Human Phenotype Ontology:HP:0002306,Human Phenotype Ontology:HP:0002348,Human Phenotype Ontology:HP:0002391,Human Phenotype Ontology:HP:0002417,Human Phenotype Ontology:HP:0002430,Human Phenotype Ontology:HP:0002431,Human Phenotype Ontology:HP:0002432,Human Phenotype Ontology:HP:0002434,Human Phenotype Ontology:HP:0002437,Human Phenotype Ontology:HP:0002466,Human Phenotype Ontology:HP:0002479,Human Phenotype Ontology:HP:0002794,Human Phenotype Ontology:HP:0006997,Human Phenotype Ontology:HP:0010520,MedGen:C0036572]
175_ASP HIS ClinVar
chr6:42975697
rs1762178916
Pathogenic/Likely pathogenic - - Hogue-Janssens syndrome 1|not provided [MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279|MedGen:C3661900]
177_ARG LEU VAR_090775
-
US - - Houge-Janssens syndrome 4 (HJS4) [MIM:621185]
177_ARG TRP VAR_090776
-
US - - Houge-Janssens syndrome 4 (HJS4) [MIM:621185]
177_ARG PRO ClinVar
chr6:42975704
rs1131691266
Pathogenic/Likely pathogenic - 0.9997 not provided|Hogue-Janssens syndrome 1|Neurodevelopmental abnormality [MedGen:C3661900|MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279|Human Phenotype Ontology:HP:0012759,MedGen:C4022737]
177_ARG TRP ClinVar
chr14:102349799
rs2140903557
Likely pathogenic - - Global developmental delay|PPP2R5C-related neurodevelopmental disorder [Human Phenotype Ontology:HP:0000754,Human Phenotype Ontology:HP:0001255,Human Phenotype Ontology:HP:0001263,Human Phenotype Ontology:HP:0001277,Human Phenotype Ontology:HP:0001292,Human Phenotype Ontology:HP:0002433,Human Phenotype Ontology:HP:0002473,Human Phenotype Ontology:HP:0002532,Human Phenotype Ontology:HP:0006793,Human Phenotype Ontology:HP:0006867,Human Phenotype Ontology:HP:0006885,Human Phenotype Ontology:HP:0006935,Human Phenotype Ontology:HP:0007005,Human Phenotype Ontology:HP:0007094,Human Phenotype Ontology:HP:0007106,Human Phenotype Ontology:HP:0007174,Human Phenotype Ontology:HP:0007224,Human Phenotype Ontology:HP:0007228,Human Phenotype Ontology:HP:0007342,Human Phenotype Ontology:HP:0025356,MedGen:C0557874|]
177_ARG GLY ClinVar
chr6:42975703
rs2150279781
Pathogenic - 0.9988 not provided [MedGen:C3661900]
244_LYS GLU VAR_090777
-
LP/P - - Houge-Janssens syndrome 4 (HJS4) [MIM:621185]
261_SER ASN 8.3kJPN
chr14:102359429
-
- 0.0001 0.8777 -
263_TYR CYS 8.3kJPN
chr6:42976203
-
- 0.0001 0.973 -
272_VAL MET 8.3kJPN
chr14:102360859
-
- 0.0001 0.973 -
325_GLU GLY 8.3kJPN
chr14:102368177
-
- 0.0001 0.2729 -
344_GLU LYS VAR_090778
-
US - 0.9995 Houge-Janssens syndrome 4 (HJS4) [MIM:621185]
344_GLU LYS ClinVar
chr6:42977066
rs863225080
Pathogenic - 0.9995 not provided|Inborn genetic diseases|Hogue-Janssens syndrome 1 [MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279]
359_ILE VAL 8.3kJPN
chr6:42977111
rs755300874
- 0.0001 0.1318 -
370_MET ILE 8.3kJPN
chr14:102372825
-
- 0.0001 0.9009 -
386_ILE VAL 8.3kJPN
chr14:102375930
-
- 0.0001 0.8584 -
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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.