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SFTPA2 G231V [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-5687988
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
Pulmonary surfactant-associated protein A2 (SP-A2), SFTA2_HUMAN
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases associated with surfactant metabolism (Homo sapiens)
Defective SFTPA2 causes IPF (Homo sapiens)
Defective SFTPA2 does not translocate from ER membrane to extracellular region (Homo sapiens)
SFTPA2 mutants [endoplasmic reticulum membrane] (Homo sapiens)
SFTPA2 G231V [endoplasmic reticulum membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q8IWL1 SFTPA2
Gene Names
SFTPA2, COLEC5, PSAP, SFTP1, SFTPA, SFTPA2B
Chain
signal peptide:1-20, chain:21-248
Reference Genes
BioGPS Gene:729238 SFTPA2
COSMIC (genes):SFTPA2 SFTPA2
CTD Gene:729238 SFTPA2
dbSNP Gene:729238 SFTPA2
ENSEMBL:ENSG00000185303 SFTPA2
ENSEMBL_homo_sapiens_GENE:ENSG00000185303.17 SFTPA2
HGNC:10799 SFTPA2
KEGG Gene (Homo sapiens):729238 SFTPA2
Monarch:729238 SFTPA2
NCBI Gene:729238 SFTPA2
OMIM:178642 SFTPA2
UCSC:Q8IWL1 SFTPA2
Reference Transcript
RefSeq:XM_011540124.1 SFTPA2
RefSeq:XM_017016608.1 SFTPA2
RefSeq:XM_011540125.1 SFTPA2
RefSeq:NM_001098668.3 SFTPA2
RefSeq:NM_001320813.1 SFTPA2
RefSeq:XM_005270132.3 SFTPA2
Other Identifiers
11735664_s_at
11745166_x_at
11748373_s_at
218835_PM_at
218835_at
223678_PM_s_at
223678_s_at
3253939
3253945
3253946
3253948
3253950
3254072
3254077
3254078
3254081
3254082
3297057
3297058
3297059
3297060
3297061
3297062
3297063
3297065
3297067
3297124
3297125
3297126
3297127
3297128
3297129
3297131
3297132
3297133
3297139
3297141
729238
7928602
7928632
7934698
7934708
A_24_P223874
A_33_P3268919
A_33_P3344574
GO:0005515
GO:0005576
GO:0005581
GO:0005615
GO:0005768
GO:0005771
GO:0005783
GO:0005789
GO:0007585
GO:0030246
GO:0031410
GO:0042599
GO:0043226
GO:0045334
HMNXSV003037918
ILMN_1689114
ILMN_2048659
M13686_s_at
M68519_rna1_at
PH_hs_0027493
PH_hs_0034854
TC10001454.hg
TC10002728.hg
g13346505_3p_at
g190669_3p_s_at
Participates
as a member of
SFTPA2 mutants [endoplasmic reticulum membrane] (Homo sapiens)
Other forms of this molecule
SFTPA2 F198S [endoplasmic reticulum membrane]
SFTPA2 [lamellar body]
SFTPA2 [endoplasmic reticulum membrane]
SFTPA2 [clathrin-coated endocytic vesicle]
SFTPA2 [extracellular region]
Modified Residues
Name
glycine 231 replaced with L-valine
Coordinate
231
PsiMod
L-valine residue [MOD:00029]
A protein modification that effectively converts a source amino acid residue to an L-valine.
glycine removal [MOD:01638]
A protein modification that effectively removes or replaces an glycine.
Disease
Name
Identifier
Synonyms
idiopathic pulmonary fibrosis
DOID:0050156
IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL, FIBROCYSTIC PULMONARY DYSPLASIA, cryptogenic fibrosing alveolitis
Cross References
RefSeq
XP_011538427.1
,
NP_001092138.1
,
XP_016872097.1
,
XP_011538426.1
,
XP_005270189.1
,
NP_001307742.1
OpenTargets
ENSG00000185303
HPA
ENSG00000185303-SFTPA2
GeneCards
Q8IWL1
Ensembl
ENSP00000361402
,
ENST00000372327
,
ENST00000372325
,
ENSG00000185303
,
ENSP00000361400
PRO
Q8IWL1
Pharos - Targets
Q8IWL1
Orphanet
20274
HMDB Protein
HMDBP02665
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