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CSF2RB S271L [plasma membrane]
Stable Identifier
R-HSA-5688879
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
IL3RB, Cytokine receptor common subunit beta, GM-CSF/IL-3/IL-5 receptor common beta chain, CD131
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases associated with surfactant metabolism (Homo sapiens)
Defective CSF2RB causes SMDP5 (Homo sapiens)
Defective CSF2RB does not bind SFTPs (Homo sapiens)
CSF2RA:CSF2RB mutants [plasma membrane] (Homo sapiens)
CSF2RB mutants [plasma membrane] (Homo sapiens)
CSF2RB S271L [plasma membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:P32927 CSF2RB
Gene Names
CSF2RB, IL3RB, IL5RB
Chain
signal peptide:1-16, chain:17-897
Reference Genes
BioGPS Gene:1439 CSF2RB
COSMIC (genes):CSF2RB CSF2RB
CTD Gene:1439 CSF2RB
dbSNP Gene:1439 CSF2RB
ENSEMBL:ENSG00000100368 CSF2RB
ENSEMBL:ENSG00000100368.15 CSF2RB
HGNC:2436 CSF2RB
KEGG Gene (Homo sapiens):1439 CSF2RB
Monarch:1439 CSF2RB
NCBI Gene:1439 CSF2RB
OMIM:138981 CSF2RB
UCSC:P32927 CSF2RB
Reference Transcript
RefSeq:NM_000395.2 CSF2RB
RefSeq:XM_005261340.3 CSF2RB
Other Identifiers
1086_at
11722724_a_at
11722725_a_at
11758608_s_at
1439
16929677
205159_PM_at
205159_at
3429537
37493_at
37494_at
3944565
3944566
3944568
3944569
3944571
3944572
3944573
3944574
3944575
3944576
3944577
3944578
3944579
3944580
3944582
3944583
3944584
3944585
3944589
3944590
3944591
3944592
3944593
3944594
3944595
3944596
3944597
3944598
3944599
3944600
3944601
3944602
3944603
3944604
3944605
8072757
A_14_P106200
A_14_P135880
A_23_P120899
A_33_P3341442
GE57996
GE80082
GO:0002376
GO:0004896
GO:0004912
GO:0004914
GO:0005515
GO:0005886
GO:0006468
GO:0007165
GO:0007259
GO:0007585
GO:0009897
GO:0015026
GO:0016020
GO:0016064
GO:0019221
GO:0023052
GO:0030526
GO:0032496
GO:0036016
GO:0036211
GO:0038023
GO:0038043
GO:0038156
GO:0038157
GO:0060089
GO:0070665
HMNXSV003003586
HMNXSV003033609
Hs.285401.0.S2_3p_at
ILMN_1798475
M59941_at
PH_hs_0014775
TC22000271.hg
Participates
as a member of
CSF2RB mutants [plasma membrane] (Homo sapiens)
Other forms of this molecule
p-Y593,Y628-CSF2RB [plasma membrane]
CSF2RB [plasma membrane]
p-S585-CSF2RB [plasma membrane]
p-Y593-CSF2RB [plasma membrane]
CSF2RB R211Efs*54 [plasma membrane]
Modified Residues
Name
L-serine 271 replaced with L-leucine
Coordinate
271
PsiMod
L-serine removal [MOD:01646]
A protein modification that effectively removes or replaces an L-serine.
L-leucine residue [MOD:00020]
A protein modification that effectively converts a source amino acid residue to an L-leucine.
Disease
Name
Identifier
Synonyms
pulmonary alveolar proteinosis
DOID:12120
Cross References
RefSeq
XP_005261397.1
,
NP_000386.1
Guide to Pharmacology - Targets
2306
OpenTargets
ENSG00000100368
HPA
ENSG00000100368-CSF2RB
GeneCards
P32927
Ensembl
ENSP00000384053
,
ENSP00000385271
,
ENST00000406230
,
ENSG00000100368
,
ENST00000403662
PRO
P32927
Pharos - Targets
P32927
Orphanet
15812
HMDB Protein
HMDBP01696
PDB
1EGJ
,
5DWU
,
2NA8
,
1GH7
,
2GYS
,
2NA9
,
4NKQ
,
1C8P
Interactors (10)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q01344 IL5RA
1
IL5RA [plasma membrane]
(R-HSA-450072)
0.589
3
UniProt:P08700 IL3
1
IL3 [extracellular region]
(R-HSA-450059)
0.589
2
UniProt:O60674 JAK2
8
p-Y1007,Y1008-JAK2 [cytosol]
(R-HSA-9005327)
p-JAK2 [cytosol]
(R-HSA-210621)
p-Y813-JAK2 [cytosol]
(R-HSA-997248)
JAK2 V617F [nucleoplasm]
(R-HSA-5211269)
JAK2 [endosome lumen]
(R-HSA-2002372)
p-12Y-JAK2 [cytosol]
(R-HSA-2586516)
p-Y1007-JAK2 [cytosol]
(R-HSA-873799)
JAK2 [cytosol]
(R-HSA-210620)
0.564
4
UniProt:P05556 ITGB1
2
ITGB1 [endosome membrane]
(R-HSA-9611157)
ITGB1 [plasma membrane]
(R-HSA-57596)
0.544
5
UniProt:P29353 SHC1
5
SHC1 [cytosol]
(R-HSA-74680)
p-Y427-SHC1 [cytosol]
(R-HSA-74684)
p-Y349,Y350-SHC1 [cytosol]
(R-HSA-180276)
p-Y-SHC1 [cytosol]
(R-HSA-162568)
p-Y349,Y350,Y427-SHC1 [cytosol]
(R-HSA-912321)
0.527
4
UniProt:Q06124 PTPN11
4
p-Y542-PTPN11 [cytosol]
(R-HSA-1369081)
PTPN11 [nucleoplasm]
(R-HSA-8937745)
PTPN11 [cytosol]
(R-HSA-162563)
p-Y542,Y580-PTPN11 [cytosol]
(R-HSA-162573)
0.527
2
UniProt:P05113 IL5
1
IL5 [extracellular region]
(R-HSA-447159)
0.524
2
UniProt:P04141 CSF2
1
CSF2 [extracellular region]
(R-HSA-517562)
0.524
2
UniProt:P29350 PTPN6
5
PTPN6 [tertiary granule lumen]
(R-HSA-6800952)
PTPN6 [extracellular region]
(R-HSA-6806315)
PTPN6 [specific granule lumen]
(R-HSA-6799641)
PTPN6 [nucleoplasm]
(R-HSA-9008911)
PTPN6 [cytosol]
(R-HSA-197938)
0.471
2
UniProt:P27986 PIK3R1
16
p-Y-PIK3R1 [cytosol]
(R-HSA-9680647)
PIK3R1 G376R [plasma membrane]
(R-HSA-2399717)
PIK3R1 K379E [plasma membrane]
(R-HSA-8944148)
PIK3R1 Y463_L466del [plasma membrane]
(R-HSA-2399546)
PIK3R1 H450_E451del [plasma membrane]
(R-HSA-2399545)
PIK3R1 R574_T576del [plasma membrane]
(R-HSA-2399544)
PIK3R1 D560Y [plasma membrane]
(R-HSA-2399421)
PIK3R1 N564D [plasma membrane]
(R-HSA-2399427)
PIK3R1 K459del [plasma membrane]
(R-HSA-2399554)
PIK3R1 N564K [plasma membrane]
(R-HSA-2399431)
PIK3R1 D560H [plasma membrane]
(R-HSA-2399432)
PIK3R1 R574I [plasma membrane]
(R-HSA-2399536)
PIK3R1 R574T [plasma membrane]
(R-HSA-2399540)
K63polyUb-PIK3R1 [cytosol]
(R-HSA-3080572)
PIK3R1 [cytosol]
(R-HSA-74789)
PIK3R1 [plasma membrane]
(R-HSA-198365)
0.462
4
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