PiSITE

PDB ID	2ERJ	CHAIN	C
Protein name	Cytokine receptor common gamma chain
Uniprot Accession	P31785
The number of similar proteins	9
The number of binding states	6
The number of binding partners	8

Coloring

Unicolor (beige)

The number of binding partners

Group

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

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Only interaction residues

#binding
partners

	5
	4
	3
	2
	1
	0

Sequence information

GMLSLLNTTI

LTPNGNEDTT

ADFFLTTMPT

DSLSVSTLPL

PEVQCFVFNV

EYMNCTWQSS

SEPQPTNLTL

HYWYKNSDND

KVQKCSHYLF

SEEITSGCQL

100

101

QKKEIHLYQT

FVVQLQDPRE

PRRQATQMLK

LQNLVIPWAP

ENLTLHKLSE

150

151

SQLELNWNNR

FLNHCLEHLV

QYRTDWDHSW

TEQSVDYRHK

FSLPSVDGQK

200

201

RYTFRVRSRF

NPLCGSAQHW

SEWSHPIHWG

SNTSKENPRT

GHHHHHH

250

Variants

Residue	AA	Source / dbSNP	Clinical Significance	Allele Frequency (> 0.0001)	AlphaMissense pathogenicity	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	-	0.932	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	-	0.9902	not provided [MedGen:CN517202]
46_GLU	GLY	VAR_002670 -	LP/P	-	0.5246	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	-	0.3338	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	-	0.3338	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	0.4606	-
62_ASN	LYS	VAR_002672 -	LP/P	-	0.7651	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	-	0.9593	not provided [MedGen:CN517202]
67_TYR	CYS	VAR_002673 -	LP/P	-	0.5719	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	0.1072	-
83_TYR	CYS	VAR_002674 rs193922347	LP/P	-	0.9183	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	-	0.9183	X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
87_GLU	LYS	VAR_020611 rs17875899	LB/B	-	0.0619	-
87_GLU	LYS	gnomAD chrX:70330483 rs17875899	-	0.000899761	0.0619	-
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	-	0.9514	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	-	0.9514	X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
92_GLY	CYS	ClinVar chrX:70330468 rs2147750359	Likely pathogenic	-	0.9302	X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
92_GLY	SER	ClinVar chrX:70330468 -	Likely pathogenic	-	0.4892	X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
93_CYS	PHE	VAR_002676 -	LP/P	-	0.9256	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	-	0.9805	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	-	0.9805	X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
93_CYS	TYR	ClinVar chrX:70330464 rs1556330755	Likely pathogenic	-	0.9633	X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
93_CYS	PHE	ClinVar chrX:70330464 rs1556330755	Likely pathogenic	-	0.9256	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	-	0.6401	not provided [MedGen:C3661900]
101_HIS	PRO	VAR_002678 -	LP/P	-	0.3302	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
103_TYR	ASN	VAR_002679 -	LP/P	-	0.6282	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	-	0.8673	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	-	0.5329	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	-	0.8888	X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
130_VAL	ALA	ClinVar chrX:70330145 rs193922348	Pathogenic/Likely pathogenic	-	0.7197	X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
130_VAL	GLY	ClinVar chrX:70330145 rs193922348	Pathogenic	-	0.7088	X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
131_ILE	ASN	VAR_002681 rs111033621	LP/P	-	0.7766	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	-	0.7766	X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
131_ILE	THR	ClinVar chrX:70330142 rs111033621	Likely pathogenic	-	0.8311	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	-	0.4876	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	-	0.4876	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	-	0.7954	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	-	0.6572	X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
149_GLU	GLN	gnomAD chrX:70330089 rs763359860	-	0.000130801	0.1542	-
150_LEU	PRO	VAR_002684 -	LP/P	-	0.9803	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
150_LEU	GLN	VAR_002685 -	LP/P	-	0.9377	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	-	0.3239	X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
150_LEU	GLN	ClinVar chrX:70330085 -	Likely pathogenic	-	0.9377	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	0.1626	-
160_CYS	ARG	VAR_002686 -	LP/P	-	0.9664	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	-	0.9668	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	-	0.9764	X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
161_LEU	SER	VAR_002687 -	LP/P	-	0.8174	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	0.3672	-
196_ARG	CYS	8.3kJPN chrX:70329183 rs1431234580	-	0.0001	0.1618	-
199_PHE	SER	ClinVar chrX:70329173 rs193922349	Likely pathogenic	-	0.9787	X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
200_ARG	CYS	VAR_002688 rs111033618	LP/P	-	0.4702	X-linked combined immunodeficiency (XCID) [MIM:312863]
200_ARG	CYS	ClinVar chrX:70329171 rs111033618	Pathogenic	-	0.4702	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	-	0.8177	not provided [MedGen:CN517202]
201_VAL	PHE	ClinVar chrX:70329168 rs2092258151	Likely pathogenic	-	0.8875	Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
202_ARG	TRP	VAR_002689 rs869320658	LP/P	-	0.5531	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	-	0.5531	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	-	0.9903	X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
203_SER	ARG	ClinVar chrX:70329160 rs1569479913	Likely pathogenic	-	0.9893	X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
203_SER	ARG	ClinVar chrX:70329160 rs1569479913	Likely pathogenic	-	0.9893	X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
204_ARG	CYS	VAR_002690 rs869320659	LP/P	-	0.5785	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	-	0.2483	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	-	0.2483	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	-	0.5785	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	-	0.6936	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
208_LEU	PRO	VAR_002693 -	LP/P	-	0.4776	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
209_CYS	TYR	VAR_002694 -	LP/P	-	0.9729	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	-	0.9729	X-linked severe combined immunodeficiency [MONDO:MONDO:0010315,MedGen:C1279481,OMIM:300400,Orphanet:276]
210_GLY	ARG	VAR_002695 rs1569479909	LP/P	-	0.9136	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	-	0.9156	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	-	0.9876	not provided [MedGen:C3661900]
216_SER	ASN	ClinVar chrX:70329122 rs2147748142	Pathogenic	-	0.9102	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	-	0.9958	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	-	0.9903	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	-	0.951	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

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Variants

Reference

	P14784	Interleukin-2 receptor subunit beta
	P40933	Interleukin-15