PiSITE

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

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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)	AlphaMissense pathogenicity	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