PDB ID 2Z6H     CHAIN A
Protein name Catenin beta-1
Uniprot Accession P35222
The number of similar proteins 34
The number of binding states 9
The number of binding partners 9

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
2Z6H (CHAIN: A)
1 Monomeric state
2 P27782  
3 Q9NSA3  
4 P25054  
5 Q9YGY0  
6 Q00987  
7 O00482  
8 Q9NQB0   O00512  
9 Q02248   P09803  

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  6
  5
  4
  3
  2
  1
  0

Sequence information

1   NLINYQDDAE   LATRAIPELT   KLLNDEDQVV   VNKAAVMVHQ   LSKKEASRHA   50
51   IMRSPQMVSA   IVRTMQNTND   VETARCTAGT   LHNLSHHREG   LLAIFKSGGI   100
101   PALVKMLGSP   VDSVLFYAIT   TLHNLLLHQE   GAKMAVRLAG   GLQKMVALLN   150
151   KTNVKFLAIT   TDCLQILAYG   NQESKLIILA   SGGPQALVNI   MRTYTYEKLL   200
201   WTTSRVLKVL   SVCSSNKPAI   VEAGGMQALG   LHLTDPSQRL   VQNCLWTLRN   250
251   LSDAATKQEG   MEGLLGTLVQ   LLGSDDINVV   TCAAGILSNL   TCNNYKNKMM   300
301   VCQVGGIEAL   VRTVLRAGDR   EDITEPAICA   LRHLTSRHQE   AEMAQNAVRL   350
351   HYGLPVVVKL   LHPPSHWPLI   KATVGLIRNL   ALCPANHAPL   REQGAIPRLV   400
401   QLLVRAHQDT   QRRTSMGGTQ   QQFVEGVRME   EIVEGCTGAL   HILARDVHNR   450
451   IVIRGLNTIP   LFVQLLYSPI   ENIQRVAAGV   LCELAQDKEA   AEAIEAEGAT   500
501   APLTELLHSR   NEGVATYAAA   VLFRMSEDKP   QDYKKRLSVE   LTSSLFRTEP   550
551   MAWNETADLG   LDIGAQGEPL   GYRQDDPSYR   SFHSGGYGQD   ALGMDPMMEH   600
601   EMGGHHPGAD   YPVDGLPDLG   HAQDLMDGLP   PGDSNQLAWF   DTDL   650

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
185_ARG TER ClinVar
chr3:41266882 		rs2078151590
Pathogenic - not provided [MedGen:C3661900]
216_GLY ARG ClinVar
chr3:41266975 		rs2125623075
Pathogenic - Severe intellectual disability-progressive spastic diplegia syndrome [MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473]
235_GLY ARG ClinVar
chr3:41267032 		rs2125623412
Likely pathogenic - See cases [-]
241_VAL VAL ClinVar
chr3:41267052 		rs483352717
Likely pathogenic - not provided [MedGen:C3661900]
247_PRO ALA 8.3kJPN
chr3:41267155 		-
- 0.0001 -
263_LEU TER ClinVar
chr3:41267204 		rs2078159952
Pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
266_GLN TER ClinVar
chr3:41267212 		rs1553630472
Pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
270_LYS TER ClinVar
chr3:41267224 		rs2125624259
Pathogenic - not provided [MedGen:C3661900]
281_LYS TER ClinVar
chr3:41267257 		rs1057520556
Pathogenic - not provided [MedGen:CN517202]
287_ASN SER gnomAD
chr3:41267276 		rs35288908
- 0.000565314 -
309_GLN TER ClinVar
chr3:41267341 		rs376393123
Pathogenic - Severe intellectual disability-progressive spastic diplegia syndrome [MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473]
310_GLU TER ClinVar
chr3:41267344 		rs2078162308
Pathogenic - not provided [MedGen:CN517202]
327_ILE VAL 8.3kJPN
chr3:41268741 		-
- 0.0001 -
333_TYR TER ClinVar
chr3:41268761 		rs778624338
Pathogenic - not provided|Inborn genetic diseases|Hepatocellular carcinoma [MedGen:C3661900|MeSH:D030342,MedGen:C0950123|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673]
333_TYR TER ClinVar
chr3:41268761 		rs778624338
Pathogenic - not provided|Severe intellectual disability-progressive spastic diplegia syndrome [MedGen:C3661900|MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473]
338_TRP TER ClinVar
chr3:41268776 		rs1454068577
Pathogenic - Severe intellectual disability-progressive spastic diplegia syndrome [MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473]
341_SER CYS 8.3kJPN
chr3:41268783 		-
- 0.0001 -
345_LYS TER ClinVar
chr3:41268795 		rs2125628072
Pathogenic - not provided [MedGen:C3661900]
348_SER PHE ClinVar
chr3:41268805 		-
Likely pathogenic - Severe intellectual disability-progressive spastic diplegia syndrome [MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473]
364_GLN TER ClinVar
chr3:41274840 		rs1559474040
Pathogenic - not provided [MedGen:CN517202]
366_LEU TER ClinVar
chr3:41274847 		-
Pathogenic - CTNNB1-related condition [-]
380_ASN ILE ClinVar
chr3:41274889 		rs1553631770
Likely pathogenic - Inborn genetic diseases|Exudative vitreoretinopathy 7 [MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033123,MedGen:C4539767,OMIM:617572]
382_LEU PRO ClinVar
chr3:41274895 		rs1064796240
Likely pathogenic - not provided [MedGen:CN517202]
388_LEU PRO VAR_072282 -
LP/P - Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]
395_GLN TER ClinVar
chr3:41274933 		-
Pathogenic - Severe intellectual disability-progressive spastic diplegia syndrome|not provided [MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473|MedGen:C3661900]
424_LEU ARG ClinVar
chr3:41275105 		rs863224864
Likely pathogenic - Severe intellectual disability-progressive spastic diplegia syndrome [MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473]
429_CYS TER ClinVar
chr3:41275121 		rs2078362215
Likely pathogenic - Severe intellectual disability-progressive spastic diplegia syndrome [MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473]
433_LYS TER ClinVar
chr3:41275131 		rs1559474364
Pathogenic - Severe intellectual disability-progressive spastic diplegia syndrome [MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473]
474_ARG TER ClinVar
chr3:41275254 		rs1553631860
Pathogenic - Severe intellectual disability-progressive spastic diplegia syndrome|not provided|Neurodevelopmental disorder|Intellectual disability|Microcephalic primordial dwarfism, Alazami type|Developmental disorder|7 conditions [MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473|MedGen:C3661900|MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926|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|MONDO:MONDO:0014031,MedGen:C3554439,OMIM:615071,Orphanet:319671|MedGen:C0008073|7 conditions]
482_GLN TER ClinVar
chr3:41275278 		rs1559474557
Pathogenic - not provided [MedGen:CN517202]
482_GLN GLU ClinVar
chr3:41275278 		rs1559474557
Likely pathogenic - Colorectal cancer [MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500]
496_LYS TER ClinVar
chr3:41275320 		-
Pathogenic - not provided [MedGen:C3661900]
515_ARG TER ClinVar
chr3:41275648 		rs397514554
Pathogenic - Severe intellectual disability-progressive spastic diplegia syndrome|not provided|7 conditions [MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473|MedGen:C3661900|7 conditions]
527_LEU TER ClinVar
chr3:41275685 		rs1057520730
Pathogenic - not provided [MedGen:CN517202]
530_GLN TER ClinVar
chr3:41275693 		rs1559474966
Pathogenic - Severe intellectual disability-progressive spastic diplegia syndrome [MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473]
535_ARG TER ClinVar
chr3:41275708 		rs886039332
Pathogenic - not provided|Severe intellectual disability-progressive spastic diplegia syndrome|Abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity|Exudative vitreoretinopathy 7|Intellectual disability [MedGen:C3661900|MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473||MONDO:MONDO:0033123,MedGen:C4539767,OMIM:617572|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]
538_GLN TER ClinVar
chr3:41275717 		-
Pathogenic - Severe intellectual disability-progressive spastic diplegia syndrome [MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473]
550_ARG HIS 8.3kJPN
chr3:41275754 		rs779588249
- 0.0001 -
561_VAL VAL ClinVar
chr3:41275788 		rs1553632001
Pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
564_VAL PHE 8.3kJPN
chr3:41277221 		-
- 0.0001 -
571_GLU LYS ClinVar
chr3:41277242 		-
Likely pathogenic - not provided [MedGen:CN517202]
575_GLY ARG ClinVar
chr3:41277254 		rs797044875
Pathogenic/Likely pathogenic - Inborn genetic diseases|not provided|Severe intellectual disability-progressive spastic diplegia syndrome [MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473]
587_ARG TER ClinVar
chr3:41277290 		rs1064796453
Pathogenic/Likely pathogenic - not provided|Inborn genetic diseases|Severe intellectual disability-progressive spastic diplegia syndrome [MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473]
623_GLN TER ClinVar
chr3:41277903 		rs864309577
Pathogenic - not provided [MedGen:CN517202]
625_LYS TER ClinVar
chr3:41277909 		-
Pathogenic - not provided [MedGen:C3661900]
626_GLU TER ClinVar
chr3:41277912 		rs1553632357
Likely pathogenic - Microcephaly [Human Phenotype Ontology:HP:0000252,Human Phenotype Ontology:HP:0001366,Human Phenotype Ontology:HP:0005485,Human Phenotype Ontology:HP:0005489,Human Phenotype Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563]; Global developmental delay [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]; Teratoma [Human Phenotype Ontology:HP:0009792,MONDO:MONDO:0002601,MedGen:C0039538]; Imperforate anus [Human Phenotype Ontology:HP:0001550,Human Phenotype Ontology:HP:0002023,MONDO:MONDO:0001046,MedGen:C0003466,OMIM:207500,OMIM:301800,Orphanet:557]; Absent speech [Human Phenotype Ontology:HP:0001344,Human Phenotype Ontology:HP:0001617,Human Phenotype Ontology:HP:0006798,MedGen:C1854882]
634_GLU TER ClinVar
chr3:41277936 		rs1575334103
Pathogenic - Severe intellectual disability-progressive spastic diplegia syndrome [MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473]
637_THR ILE 8.3kJPN
chr3:41277946 		-
- 0.0001 -
642_GLU TER ClinVar
chr3:41277960 		rs2078436466
Pathogenic - Severe intellectual disability-progressive spastic diplegia syndrome [MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473]
654_TYR TER ClinVar
chr3:41278086 		rs750402920
Pathogenic - not provided|Severe intellectual disability-progressive spastic diplegia syndrome [MedGen:CN517202|MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473]
661_ARG TER ClinVar
chr3:41278105 		rs748294403
Pathogenic/Likely pathogenic - not provided|Severe intellectual disability-progressive spastic diplegia syndrome|CTNNB1-related disorders|Global developmental delay [MedGen:C3661900|MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473||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]
687_PRO GLN 8.3kJPN
chr3:41278184 		-
- 0.0001 -
688_MET VAL VAR_018954 rs4135384
LB/B - -
690_TRP TER ClinVar
chr3:41278193 		rs1553632412
Pathogenic - not provided [MedGen:CN517202]
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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.