PDB ID 2B5I     CHAIN C
Protein name Cytokine receptor common gamma chain
Uniprot Accession P31785
The number of similar proteins 9
The number of binding states 7
The number of binding partners 9

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
2B5I (CHAIN: C)
1 P14784   P60568  
2 D4HNR6  
3 7S2R  
4 P24394   P05112  
5 Q9HBE5   Q9HBE4  
6 P14784   P40933  
7 6OEL   P24394   P05112  

Downdload

Format:

Molecule viewer


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

Sequence information

1   PLPEVQCFVF   NVEYMNCTWQ   SSSEPQPTNL   TLHYWYKNSD   NDKVQKCSHY   50
51   LFSEEITSGC   QLQKKEIHLY   QTFVVQLQDP   REPRRQATQM   LKLQNLVIPW   100
101   APENLTLHKL   SESQLELNWN   NRFLNHCLEH   LVQYRTDWDH   SWTEQSVDYR   150
151   HKFSLPSVDG   QKRYTFRVRS   RFNPLCGSAQ   HWSEWSHPIH   WGSNTSKEN   200

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
37_GLU TER ClinVar
chrX:70330841 		rs2092262517
Likely pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
39_GLN TER ClinVar
chrX:70330835 		rs1569480082
Likely pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
40_CYS GLY VAR_002669 -
LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
40_CYS TER ClinVar
chrX:70330830 		rs111033619
Pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
40_CYS SER ClinVar
chrX:70330832 		rs1602289649
Likely pathogenic - not provided [MedGen:CN517202]
46_GLU GLY VAR_002670 -
LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
46_GLU LYS VAR_002671 rs1057520644
LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
46_GLU LYS ClinVar
chrX:70330814 		rs1057520644
Pathogenic - not provided|X-linked severe combined immunodeficiency|Combined immunodeficiency, X-linked [MedGen:C3661900|MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276|MONDO:MONDO:0010730,MedGen:CN030319,OMIM:312863]
47_TYR TER ClinVar
chrX:70330809 		rs1282558220
Pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
50_CYS TER ClinVar
chrX:70330800 		rs2147750927
Pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
55_SER ARG 8.3kJPN
chrX:70330785 		-
- 0.0001 -
62_ASN LYS VAR_002672 -
LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
65_LEU PRO ClinVar
chrX:70330756 		rs1057520293
Likely pathogenic - not provided [MedGen:CN517202]
67_TYR CYS VAR_002673 -
LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
68_TRP TER ClinVar
chrX:70330538 		rs1569480047
Pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
72_SER TER ClinVar
chrX:70330527 		rs775704953
Pathogenic - not provided|X-linked severe combined immunodeficiency [MedGen:C3661900|MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
72_SER LEU gnomAD
chrX:70330527 		rs775704953
- 0.000120236 -
83_TYR CYS VAR_002674 rs193922347
LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
83_TYR CYS ClinVar
chrX:70330494 		rs193922347
Pathogenic/Likely pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
87_GLU LYS VAR_020611 rs17875899
LB/B - -
87_GLU LYS gnomAD
chrX:70330483 		rs17875899
- 0.000899761 -
88_GLU TER ClinVar
chrX:70330480 		rs2147750382
Pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
92_GLY ASP VAR_002675 rs111033620
LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
92_GLY ASP ClinVar
chrX:70330467 		rs111033620
Pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
92_GLY CYS ClinVar
chrX:70330468 		rs2147750359
Likely pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
92_GLY SER ClinVar
chrX:70330468 		-
Likely pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
93_CYS PHE VAR_002676 -
LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
93_CYS ARG VAR_002677 rs111033622
LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
93_CYS ARG ClinVar
chrX:70330465 		rs111033622
Pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
93_CYS TYR ClinVar
chrX:70330464 		rs1556330755
Likely pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
93_CYS PHE ClinVar
chrX:70330464 		rs1556330755
Likely pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
96_GLN TER ClinVar
chrX:70330456 		-
Pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
97_LYS TER ClinVar
chrX:70330453 		rs137852507
Pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
100_ILE ASN ClinVar
chrX:70330443 		rs2147750291
Likely pathogenic - not provided [MedGen:C3661900]
101_HIS PRO VAR_002678 -
LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
103_TYR ASN VAR_002679 -
LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
103_TYR CYS ClinVar
chrX:70330434 		rs2092261313
Likely pathogenic - Combined immunodeficiency, X-linked [MONDO:MONDO:0010730,MedGen:CN030319,OMIM:312863]; X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
109_GLN TER ClinVar
chrX:70330417 		rs1131691652
Pathogenic - not provided [MedGen:CN517202]
119_GLN TER ClinVar
chrX:70330387 		rs1556330713
Pathogenic - not provided|X-linked severe combined immunodeficiency [MedGen:CN517202|MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
122_GLN PRO VAR_002680 -
LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
122_GLN TER ClinVar
chrX:70330378 		rs1602289411
Pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
124_LEU PRO ClinVar
chrX:70330371 		-
Likely pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
130_VAL ALA ClinVar
chrX:70330145 		rs193922348
Pathogenic/Likely pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
130_VAL GLY ClinVar
chrX:70330145 		rs193922348
Pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
131_ILE ASN VAR_002681 rs111033621
LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
131_ILE ASN ClinVar
chrX:70330142 		rs111033621
Pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
131_ILE THR ClinVar
chrX:70330142 		rs111033621
Likely pathogenic - not provided [MedGen:C3661900]
133_TRP TER ClinVar
chrX:70330135 		rs1569479994
Likely pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
134_ALA VAL VAR_002682 rs1057521062
LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
134_ALA VAL ClinVar
chrX:70330133 		rs1057521062
Likely pathogenic - not provided|X-linked severe combined immunodeficiency [MedGen:C3661900|MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
140_LEU HIS VAR_002683 -
LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
140_LEU ARG ClinVar
chrX:70330115 		rs2092260648
Likely pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
149_GLU GLN gnomAD
chrX:70330089 		rs763359860
- 0.000130801 -
150_LEU PRO VAR_002684 -
LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
150_LEU GLN VAR_002685 -
LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
150_LEU MET ClinVar
chrX:70330086 		rs141707292
Likely pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
150_LEU GLN ClinVar
chrX:70330085 		-
Likely pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
152_TRP TER ClinVar
chrX:70330078 		rs1556330568
Pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
154_ASN ASP 8.3kJPN
chrX:70330074 		-
- 0.0001 -
160_CYS ARG VAR_002686 -
LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
160_CYS TYR ClinVar
chrX:70330055 		rs1064794027
Likely pathogenic - not provided|not specified|X-linked severe combined immunodeficiency [MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
160_CYS SER ClinVar
chrX:70330055 		rs1064794027
Likely pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
161_LEU SER VAR_002687 -
LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
162_GLU TER ClinVar
chrX:70330050 		rs2092260520
Pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
166_GLN TER ClinVar
chrX:70330038 		rs1556330552
Pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
178_GLN TER ClinVar
chrX:70329237 		rs2147748363
Pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
179_SER TER ClinVar
chrX:70329233 		rs1556330286
Pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
182_TYR TER ClinVar
chrX:70329223 		rs2147748344
Pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
191_VAL ALA 8.3kJPN
chrX:70329197 		-
- 0.0001 -
196_ARG CYS 8.3kJPN
chrX:70329183 		rs1431234580
- 0.0001 -
199_PHE SER ClinVar
chrX:70329173 		rs193922349
Likely pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
200_ARG CYS VAR_002688 rs111033618
LP/P - X-linked combined immunodeficiency (XCID) [MIM:312863]
200_ARG CYS ClinVar
chrX:70329171 		rs111033618
Pathogenic - Combined immunodeficiency, X-linked|Inborn genetic diseases|X-linked severe combined immunodeficiency [MONDO:MONDO:0010730,MedGen:CN030319,OMIM:312863|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
200_ARG SER ClinVar
chrX:70329171 		-
Likely pathogenic - not provided [MedGen:CN517202]
201_VAL PHE ClinVar
chrX:70329168 		rs2092258151
Likely pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
202_ARG TRP VAR_002689 rs869320658
LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
202_ARG TRP ClinVar
chrX:70329165 		rs869320658
Pathogenic/Likely pathogenic - X-linked severe combined immunodeficiency|not provided|Combined immunodeficiency, X-linked [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276|MedGen:C3661900|MONDO:MONDO:0010730,MedGen:CN030319,OMIM:312863]
202_ARG PRO ClinVar
chrX:70329164 		-
Likely pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
203_SER ARG ClinVar
chrX:70329160 		rs1569479913
Likely pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
203_SER ARG ClinVar
chrX:70329160 		rs1569479913
Likely pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
204_ARG CYS VAR_002690 rs869320659
LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
204_ARG HIS VAR_002691 rs869320660
LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
204_ARG HIS ClinVar
chrX:70329158 		rs869320660
Pathogenic - X-linked severe combined immunodeficiency|not provided [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276|MedGen:C3661900]
204_ARG CYS ClinVar
chrX:70329159 		rs869320659
Pathogenic - X-linked severe combined immunodeficiency|not provided|Combined immunodeficiency, X-linked [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276|MedGen:C3661900|MONDO:MONDO:0010730,MedGen:CN030319,OMIM:312863]; X-linked severe combined immunodeficiency|Combined immunodeficiency, X-linked [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276|MONDO:MONDO:0010730,MedGen:CN030319,OMIM:312863]
205_PHE CYS VAR_002692 -
LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
208_LEU PRO VAR_002693 -
LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
209_CYS TYR VAR_002694 -
LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
209_CYS TYR ClinVar
chrX:70329143 		-
Likely pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
210_GLY ARG VAR_002695 rs1569479909
LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
210_GLY VAL ClinVar
chrX:70329140 		rs2147748189
Likely pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
213_GLN TER ClinVar
chrX:70329132 		rs1556330249
Pathogenic - not provided|X-linked severe combined immunodeficiency [MedGen:CN517202|MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
215_TRP TER ClinVar
chrX:70329125 		rs193922350
Likely pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
215_TRP CYS ClinVar
chrX:70329124 		-
Likely pathogenic - not provided [MedGen:C3661900]
216_SER ASN ClinVar
chrX:70329122 		rs2147748142
Pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
217_GLU TER ClinVar
chrX:70329120 		-
Likely pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
218_TRP CYS VAR_002697 -
LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
218_TRP ARG ClinVar
chrX:70329117 		rs1057517950
Likely pathogenic - not provided [MedGen:CN517202]
218_TRP TER ClinVar
chrX:70329115 		rs1556330234
Pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
219_SER ILE VAR_002698 -
LP/P - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
224_TRP TER ClinVar
chrX:70329097 		rs2147748109
Pathogenic - X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
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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.