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
SFTPA2 G231V [endoplasmic reticulum membrane] icon
SFTPA2 G231V [endoplasmic reticulum membrane] icon
Locations in the PathwayBrowser
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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):PSAP SFTPA2
COSMIC (genes):SFTPA2 SFTPA2
CTD Gene:729238 SFTPA2
dbSNP Gene:729238 SFTPA2
ENSEMBL:ENSG00000185303 SFTPA2
HGNC:10799 SFTPA2
KEGG:hsa:729238 SFTPA2
Monarch:729238 SFTPA2
NCBI Gene:729238 SFTPA2
OMIM:178642 SFTPA2
UCSC:Q8IWL1 SFTPA2
Reference Transcript
Other Identifiers
11735664_s_at
11745166_x_at
16715978
218835_PM_at
218835_at
3253941
3253943
3253944
3254074
3254076
3254080
3297057
3297058
3297060
3297071
3297073
3297075
3297077
3297124
3297130
3297131
3297134
3297136
3297137
3297138
3297140
3297142
3297284
729238
A_24_P223874
A_24_P928306
A_24_P928422
A_24_P928658
A_33_P3268919
A_33_P3344574
GO:0005515
GO:0005576
GO:0005581
GO:0005615
GO:0005768
GO:0005771
GO:0005789
GO:0007585
GO:0030246
GO:0031410
GO:0042599
GO:0045334
HMNXSV003037918
ILMN_1680449
ILMN_1689114
M68519_rna1_at
PH_hs_0027493
PH_hs_0034854
TC10001454.hg
TC10002728.hg
g13346505_3p_at
Participates
as a member of
Other forms of this molecule
SFTPA2 [extracellular region]
SFTPA2 [clathrin-coated endocytic vesicle]
SFTPA2 [endoplasmic reticulum membrane]
SFTPA2 [lamellar body]
SFTPA2 F198S [endoplasmic reticulum membrane]
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
OpenTargets
ENSEMBL
HPA
GeneCards
PRO
Pharos - Targets
Orphanet
GlyGen
HMDB Protein
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