PDB ID 2ERJ     CHAIN C
Protein name Cytokine receptor common gamma chain
Uniprot Accession P31785
The number of similar proteins 7
The number of binding states 4
The number of binding partners 5

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state
Binding partners
2ERJ (CHAIN: C)
1 P14784   P60568  
2 D4HNR6  
3 P05112   P24394  
4 P14784   P40933  

Downdload

Format:

Molecule viewer

#binding
partners
  3
  2
  1
  0

Sequence information

1   GMLSLLNTTI   LTPNGNEDTT   ADFFLTTMPT   DSLSVSTLPL   PEVQCFVFNV   50
51   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
(4.7kJPN)
Disease name
40_CYS GLY VAR_002669 -
Disease - 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 [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]
46_GLU GLY VAR_002670 -
Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
46_GLU LYS VAR_002671 rs1057520644
Disease - 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/Likely pathogenic - X-linked severe combined immunodeficiency [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]; not provided [MedGen:CN517202]
62_ASN LYS VAR_002672 -
Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
67_TYR CYS VAR_002673 -
Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
68_TRP TER ClinVar
chrX:70330538
-
Pathogenic - X-linked severe combined immunodeficiency [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]
72_SER TER ClinVar
chrX:70330527
rs775704953
Pathogenic - not provided [MedGen:CN517202]
83_TYR CYS VAR_002674 rs193922347
Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
83_TYR CYS ClinVar
chrX:70330494
rs193922347
Likely pathogenic - X-linked severe combined immunodeficiency [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]
87_GLU LYS VAR_020611 rs17875899
Polymorphism - -
92_GLY ASP VAR_002675 rs111033620
Disease - 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 [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]
93_CYS PHE VAR_002676 -
Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
93_CYS ARG VAR_002677 rs111033622
Disease - 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 [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]
93_CYS TYR ClinVar
chrX:70330464
rs1556330755
Likely pathogenic - X-linked severe combined immunodeficiency [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]
97_LYS TER ClinVar
chrX:70330453
rs137852507
Pathogenic - X-linked severe combined immunodeficiency [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]
101_HIS PRO VAR_002678 -
Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
103_TYR ASN VAR_002679 -
Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
109_GLN TER ClinVar
chrX:70330417
rs1131691652
Pathogenic - not provided [MedGen:CN517202]
119_GLN TER ClinVar
chrX:70330387
rs1556330713
Pathogenic - not provided [MedGen:CN517202]
122_GLN PRO VAR_002680 -
Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
129_LEU PRO ClinVar
chrX:70330356
rs137852511
Pathogenic - X-linked severe combined immunodeficiency [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]
130_VAL ALA ClinVar
chrX:70330145
rs193922348
Pathogenic/Likely pathogenic - X-linked severe combined immunodeficiency [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]
131_ILE ASN VAR_002681 rs111033621
Disease - 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 [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]
132_PRO SER ClinVar
chrX:70330140
rs1064793153
Likely pathogenic - not provided [MedGen:CN517202]
134_ALA VAL VAR_002682 rs1057521062
Disease - 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 [MedGen:CN517202]
140_LEU HIS VAR_002683 -
Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
150_LEU PRO VAR_002684 -
Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
150_LEU GLN VAR_002685 -
Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
152_TRP TER ClinVar
chrX:70330078
rs1556330568
Pathogenic - X-linked severe combined immunodeficiency [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]
154_ASN ASP 4.7kJPN
chrX:70330074
-
- 0.0001 -
160_CYS ARG VAR_002686 -
Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
161_LEU SER VAR_002687 -
Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
166_GLN TER ClinVar
chrX:70330038
rs1556330552
Pathogenic - X-linked severe combined immunodeficiency [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]
179_SER TER ClinVar
chrX:70329233
rs1556330286
Pathogenic - X-linked severe combined immunodeficiency [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]
191_VAL ALA 4.7kJPN
chrX:70329197
-
- 0.0001 -
199_PHE SER ClinVar
chrX:70329173
rs193922349
Likely pathogenic - X-linked severe combined immunodeficiency [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]
200_ARG CYS VAR_002688 rs111033618
Disease - X-linked combined immunodeficiency (XCID) [MIM:312863]
200_ARG CYS ClinVar
chrX:70329171
rs111033618
Pathogenic - Combined immunodeficiency, X-linked [MedGen:C1706416,OMIM:312863]; Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
202_ARG TRP VAR_002689 rs869320658
Disease - 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 - X-linked severe combined immunodeficiency [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]; not provided [MedGen:CN517202]
204_ARG CYS VAR_002690 rs869320659
Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
204_ARG HIS VAR_002691 rs869320660
Disease - 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 [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]; not provided [MedGen:CN517202]
204_ARG CYS ClinVar
chrX:70329159
rs869320659
Pathogenic - X-linked severe combined immunodeficiency [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]; not provided [MedGen:CN517202]
205_PHE CYS VAR_002692 -
Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
208_LEU PRO VAR_002693 -
Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
209_CYS TYR VAR_002694 -
Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
210_GLY ARG VAR_002695 -
Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
213_GLN TER ClinVar
chrX:70329132
rs1556330249
Pathogenic - not provided [MedGen:CN517202]
215_TRP TER ClinVar
chrX:70329125
rs193922350
Likely pathogenic - X-linked severe combined immunodeficiency [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]
218_TRP CYS VAR_002697 -
Disease - 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 [MedGen:C1279481,OMIM:300400,SNOMED CT:203592006]
219_SER ILE VAR_002698 -
Disease - Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
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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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