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 13
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  

Downdload

Format:

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)
Disease name
31_ARG THR 8.3kJPN
chr14:102285420
-
- 0.0001 -
51_VAL ILE 8.3kJPN
chr14:102323079
rs114821166
- 0.0001 -
69_LYS MET ClinVar
chr6:42974760
rs2150278470
Pathogenic - Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome [MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279]
74_ASN ASP 8.3kJPN
chr6:42974774
-
- 0.0001 -
121_GLU LYS ClinVar
chr6:42975000
rs863225081
Pathogenic/Likely pathogenic - not provided|Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome|PPP2R5D-related condition [MedGen:C3661900|MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279|]
121_GLU GLY ClinVar
chr6:42975001
rs1339608272
Likely pathogenic - Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome [MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279]
121_GLU GLN 8.3kJPN
chr6:42975000
-
- 0.0001 -
122_GLU LYS ClinVar
chr6:42975003
-
Pathogenic - Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome|not provided|Inborn genetic diseases|Intellectual disability|Global developmental delay|See cases|Neurodevelopmental delay [MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|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: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:0012758,MedGen:C4022738]
122_GLU LYS ClinVar
chr14:102348567
rs1595460164
Likely pathogenic - Intellectual disability [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]
124_GLU LYS ClinVar
chr6:42975009
rs863225079
Pathogenic/Likely pathogenic - Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome|not provided|Inborn genetic diseases [MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279|MedGen:C3661900|MeSH:D030342,MedGen:C0950123]
125_PRO ARG ClinVar
chr6:42975013
rs876657383
Pathogenic - Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome|not provided [MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279|MedGen:C3661900]
131_TRP ARG ClinVar
chr6:42975030
rs869320691
Pathogenic - Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome [MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279]
131_TRP ARG ClinVar
chr6:42975030
rs869320691
Pathogenic/Likely pathogenic - not provided|Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome [MedGen:C3661900|MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279]
131_TRP CYS ClinVar
chr6:42975032
rs2150278805
Pathogenic/Likely pathogenic - Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome|not provided [MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279|MedGen:C3661900]
131_TRP CYS ClinVar
chr6:42975032
rs2150278805
Pathogenic - not provided [MedGen:C3661900]
131_TRP SER ClinVar
chr6:42975031
rs2150278804
Pathogenic - Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome [MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279]
133_HIS ARG ClinVar
chr14:102348601
rs2140894443
Likely pathogenic - See cases [-]
133_HIS TYR ClinVar
chr6:42975036
-
Likely pathogenic - not provided [MedGen:C3661900]
133_HIS GLN 8.3kJPN
chr6:42975038
-
- 0.0001 -
141_PHE LEU ClinVar
chr6:42975167
-
Likely pathogenic - Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome [MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279]
155_ALA VAL 8.3kJPN
chr14:102349652
rs748009220
- 0.0002 -
175_ASP ALA ClinVar
chr6:42975698
rs1064794719
Pathogenic - Inborn genetic diseases|Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome|not provided [MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279|MedGen:C3661900]
177_ARG PRO ClinVar
chr6:42975704
rs1131691266
Pathogenic - Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome|not provided [MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279|MedGen:C3661900]
177_ARG GLY ClinVar
chr6:42975703
rs2150279781
Pathogenic - not provided [MedGen:C3661900]
261_SER ASN 8.3kJPN
chr14:102359429
-
- 0.0001 -
263_TYR CYS 8.3kJPN
chr6:42976203
-
- 0.0001 -
272_VAL MET 8.3kJPN
chr14:102360859
-
- 0.0001 -
325_GLU GLY 8.3kJPN
chr14:102368177
-
- 0.0001 -
344_GLU LYS ClinVar
chr6:42977066
rs863225080
Pathogenic - not provided|Inborn genetic diseases|Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome [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 -
370_MET ILE 8.3kJPN
chr14:102372825
-
- 0.0001 -
386_ILE VAL 8.3kJPN
chr14:102375930
-
- 0.0001 -
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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.