Reactome | CSF2RA G174R [plasma membrane]

CSF2RA G174R [plasma membrane]

Stable Identifier

R-HSA-5688867

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

plasma membrane

Synonyms

GM-CSF receptor alpha subunit, Granulocyte-macrophage colony-stimulating factor receptor subunit alpha, CSF2R_HUMAN

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External Reference Information

External Reference

UniProt:P15509 CSF2RA

Gene Names

CSF2RA, CSF2R, CSF2RY

Chain

signal peptide:1-22, chain:23-400

Reference Genes

BioGPS Gene:1438 CSF2RA

COSMIC (genes):CSF2RA CSF2RA

CTD Gene:1438 CSF2RA

dbSNP Gene:1438 CSF2RA

ENSEMBL:ENSG00000198223 CSF2RA

HGNC:2435 CSF2RA

KEGG Gene (Homo sapiens):1438 CSF2RA

Monarch:1438 CSF2RA

NCBI Gene:1438 CSF2RA

OMIM:306250 CSF2RA

OMIM:425000 CSF2RA

UCSC:P15509 CSF2RA

Reference Transcript

Other Identifiers

0004780066

11734938_x_at

11738858_x_at

11749844_x_at

11751225_s_at

1438

17101081

17115850

207085_x_at

210340_s_at

211286_x_at

211287_x_at

33665_s_at

4063243

4068341

8165735

8176306

A_23_P136173

A_23_P501985

A_33_P3232688

GE81600

GO:0000165

GO:0003674

GO:0004896

GO:0005515

GO:0005575

GO:0005576

GO:0005886

GO:0005887

GO:0006464

GO:0007165

GO:0008150

GO:0009897

GO:0016020

GO:0016021

GO:0019221

GO:0019955

GO:0032991

GO:0038023

GO:0043235

GO:0044267

ILMN_1661196

ILMN_1721204

ILMN_1749673

ILMN_2376455

ILMN_2376458

ILMN_3246255

PH_hs_0028661

TC0X000006.hg

TC0X001567.hg

TC0Y000006.hg

X17648_at

g183361_3p_a_at

g183361_3p_x_at

g460284_3p_x_at

g5453626_3p_x_at

Participant Of

hasComponent

CSF2RA G174R:CSF2RB [plasma membrane]

Other forms of this molecule

CSF2RA [plasma membrane]

Modified Residues

Name

glycine 174 replaced with L-arginine

Coordinate

174

PsiMod

L-arginine residue [MOD:00011]

A protein modification that effectively converts a source amino acid residue to an L-arginine.

glycine removal [MOD:01638]

A protein modification that effectively removes or replaces an glycine.

Disease

Name	Identifier	Synonyms
pulmonary alveolar proteinosis	12120
newborn respiratory distress syndrome	12716	Neonatal respiratory Distress syndrome, hyaline membrane disease, HMD - Hyaline membrane disease, pulmonary hypoperfusion syndrome of newborn, respiratory distress syndrome of newborn, pulmonary hyaline membrane disease

Cross References

RefSeq

NP_006131.2, XP_011543928.1, NP_758449.1, XP_016885518.1, NP_758450.1, NP_001155004.1, NP_758448.1, XP_011544475.1, XP_011543921.1, NP_001155002.1, XP_011544477.1, XP_011544467.1, XP_011543929.1, XP_011543930.1, NP_758452.1, NP_001155003.1, XP_011544476.1, NP_001155001.1, XP_011543920.1, XP_011544468.1, XP_016884777.1

OpenTargets

ENSG00000198223

GeneCards

P15509

HPA

ENSG00000198223-CSF2RA

Ensembl

ENST00000381524, ENST00000381509, ENST00000381529, ENST00000355805, ENSP00000370911, ENST00000501036, ENSP00000370940, ENSP00000370935, ENSP00000394227, ENST00000381500, ENSP00000370920, ENST00000417535, ENSP00000348058, ENST00000432318, ENSP00000347606, ENSP00000416437, ENSP00000440491, ENST00000355432, ENSG00000198223

PRO

P15509

Orphanet

18659

PDB

4RS1, 4NKQ

Interactors (1)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q969F0 FATE1			0.556	3