PDB ID 2CKL     CHAIN A
Protein name POLYCOMB GROUP RING FINGER PROTEIN 4
Uniprot Accession P25916
The number of similar proteins 6
The number of binding states 4
The number of binding partners 6

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state
Binding partners
2CKL (CHAIN: A)
1 2CKL  
2 Q99496  
3 Q99496   P84233  
4 Q99496   P84233   P02281   P62799  

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  3
  2
  1
  0

Sequence information

1   MHRTTRIKIT   ELNPHLMCVL   CGGYFIDATT   IIECLHSFCK   TCIVRYLETS   50
51   KYCPICDVQV   HKTRPLLNIR   SDKTLQDIVY   KLVPGLFKNE   MKRRRDFYAA   100
101   HPSADAAN           150

Variants

Residue AA Source dbSNP Clinical
Significance
Allele
Frequency
(> 0.0001)
Disease name
31_ILE LEU 8.3kJPN
chr17:36896565
-
- 0.0002 -
45_ARG HIS 8.3kJPN
chr17:36895914
rs145569563
- 0.0002 -
58_VAL MET 8.3kJPN
chr17:36895876
rs376422988
- 0.0001 -
65_PRO LEU ClinVar
chr17:36895854
-
Pathogenic/Likely pathogenic - Turnpenny-fry syndrome|not provided|Global developmental delay|Abnormality of the outer ear [MONDO:MONDO:0032707,MedGen:C5193060,OMIM:618371|MedGen:C3661900|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:0000356,Human Phenotype Ontology:HP:0001752,MedGen:C1846460]; Intellectual disability|Inborn genetic diseases [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|MeSH:D030342,MedGen:C0950123]
65_PRO SER ClinVar
chr17:36895855
rs1567941256
Likely pathogenic - Turnpenny-fry syndrome|Inborn genetic diseases [MONDO:MONDO:0032707,MedGen:C5193060,OMIM:618371|MeSH:D030342,MedGen:C0950123]
65_PRO ARG ClinVar
chr17:36895854
rs1567941252
Likely pathogenic - not provided [MedGen:C3661900]
95_ARG TRP 8.3kJPN
chr17:36895354
rs200480241
- 0.0001 -
100_ALA VAL 8.3kJPN
chr17:36895338
rs763533799
- 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.