PDB ID 2QXV     CHAIN A
Protein name Embryonic ectoderm development
Uniprot Accession Q921E6
The number of similar proteins 64
The number of binding states 7
The number of binding partners 6

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
2QXV (CHAIN: A)
1 Q15910  
2 Monomeric state
3 Q15910  
4 5WP3  
5 Q15022   G1KPH4  
6 Q15022   Q15910  
7 O75530   O75530   Q15910   Q15910  

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  5
  4
  3
  2
  1
  0

Sequence information

1   SFKCVNSLKE   DHNQPLFGVQ   FNWHSKEGDP   LVFATVGSNR   VTLYECHSQG   50
51   EIRLLQSYVD   ADADENFYTC   AWTYDSNTSH   PLLAVAGSRG   IIRIINPITM   100
101   QCIKHYVGHG   NAINELKFHP   RDPNLLLSVS   KDHALRLWNI   QTDTLVAIFG   150
151   GVEGHRDEVL   SADYDLLGEK   IMSCGMDHSL   KLWRINSKRM   MNAIKESYDY   200
201   NPNKTNRPFI   SQKIHFPDFS   TRDIHRNYVD   CVRWLGDLIL   SKSCENAIVC   250
251   WKPGKMEDDI   DKIKPSESNV   TILGRFDYSQ   CDIWYMRFSM   DFWQKMLALG   300
301   NQVGKLYVWD   LEVEDPHKAK   CTTLTHHKCG   AAIRQTSFSR   DSSILIAVCD   350
351   DASIWRWDRL   R         400

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
170_ILE THR 8.3kJPN
chr11:85967514 		-
- 0.0002 -
177_ILE VAL gnomAD
chr11:85967534 		rs147440081
- 0.000316428 -
193_ASN SER ClinVar
chr11:85968585 		rs1945710855
Pathogenic - Cohen-Gibson syndrome|not provided [MONDO:MONDO:0060510,MedGen:C4479654,OMIM:617561|MedGen:C3661900]
231_VAL ILE 8.3kJPN
chr11:85975273 		rs759722952
- 0.0001 -
235_ARG THR ClinVar
chr11:85975286 		rs1131692176
Pathogenic - Cohen-Gibson syndrome [MONDO:MONDO:0060510,MedGen:C4479654,OMIM:617561]
255_MET THR ClinVar
chr11:85977165 		-
Likely pathogenic - Autism spectrum disorder [MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586,Orphanet:106]
257_HIS TYR ClinVar
chr11:85977170 		rs1131692174
Pathogenic - Cohen-Gibson syndrome [MONDO:MONDO:0060510,MedGen:C4479654,OMIM:617561]
273_ILE VAL gnomAD
chr11:85977218 		rs367891435
- 0.000172777 -
278_ASP ASN 8.3kJPN
chr11:85977233 		rs1487912547
- 0.0003 -
294_ARG SER ClinVar
chr11:85979543 		rs1131692173
Pathogenic - Cohen-Gibson syndrome [MONDO:MONDO:0060510,MedGen:C4479654,OMIM:617561]
294_ARG GLY ClinVar
chr11:85979541 		rs1131692175
Pathogenic - Cohen-Gibson syndrome [MONDO:MONDO:0060510,MedGen:C4479654,OMIM:617561]
300_TYR CYS ClinVar
chr11:85979560 		-
Pathogenic - Cohen-Gibson syndrome [MONDO:MONDO:0060510,MedGen:C4479654,OMIM:617561]
306_TRP ARG 8.3kJPN
chr11:85979577 		-
- 0.0001 -
349_ASP GLU 8.3kJPN
chr11:85988126 		-
- 0.0001 -
358_MET THR ClinVar
chr11:85988152 		rs1565706229
Likely pathogenic - Cohen-Gibson syndrome [MONDO:MONDO:0060510,MedGen:C4479654,OMIM:617561]
368_MET LEU 8.3kJPN
chr11:85988960 		-
- 0.0001 -
370_ALA VAL ClinVar
chr11:85988967 		rs1593776227
Likely pathogenic - Cohen-Gibson syndrome [MONDO:MONDO:0060510,MedGen:C4479654,OMIM:617561]
406_ARG GLN ClinVar
chr11:85989482 		rs2138241608
Likely pathogenic - Neurodevelopmental delay [Human Phenotype Ontology:HP:0012758,MedGen:C4022738]
(Powered by wupsivus)

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.