Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	729238
Gene name	Surfactant protein A2
Gene symbol	SFTPA2
Synonyms (NCBI Gene)	COLEC5ILD2PSAPPSP-APSPASFTP1SFTPA2BSP-2ASP-ASPA2SPAII
Chromosome	10
Chromosome location	10q22.3
Summary	This gene is one of several genes encoding pulmonary-surfactant associated proteins (SFTPA) located on chromosome 10. Mutations in this gene and a highly similar gene located nearby, which affect the highly conserved carbohydrate recognition domain, are a

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121917737	C>A	Pathogenic	Missense variant, coding sequence variant
rs121917738	A>G	Pathogenic	Missense variant, coding sequence variant

Show/Hide all (47)

miRTarBase ID	miRNA	Experiments
MIRT1342124	hsa-miR-134	CLIP-seq
MIRT1342125	hsa-miR-2110	CLIP-seq
MIRT1342126	hsa-miR-3115	CLIP-seq
MIRT1342127	hsa-miR-3118	CLIP-seq
MIRT1342128	hsa-miR-3164	CLIP-seq
MIRT1342129	hsa-miR-3664-5p	CLIP-seq
MIRT1342130	hsa-miR-3675-5p	CLIP-seq
MIRT1342131	hsa-miR-4269	CLIP-seq
MIRT1342132	hsa-miR-4271	CLIP-seq
MIRT1342133	hsa-miR-4276	CLIP-seq
MIRT1342134	hsa-miR-4443	CLIP-seq
MIRT1342135	hsa-miR-4697-3p	CLIP-seq
MIRT1342136	hsa-miR-4725-3p	CLIP-seq
MIRT1342137	hsa-miR-548g	CLIP-seq
MIRT1342138	hsa-miR-765	CLIP-seq
MIRT2325678	hsa-miR-4426	CLIP-seq
MIRT2325679	hsa-miR-4647	CLIP-seq
MIRT2325680	hsa-miR-4662b	CLIP-seq
MIRT2325681	hsa-miR-665	CLIP-seq
MIRT2394301	hsa-miR-1285	CLIP-seq
MIRT2394302	hsa-miR-183	CLIP-seq
MIRT2394303	hsa-miR-2682	CLIP-seq
MIRT2394304	hsa-miR-3187-5p	CLIP-seq
MIRT2394305	hsa-miR-34a	CLIP-seq
MIRT2394306	hsa-miR-34c-5p	CLIP-seq
MIRT2394307	hsa-miR-449a	CLIP-seq
MIRT2394308	hsa-miR-449b	CLIP-seq
MIRT2394309	hsa-miR-449c	CLIP-seq
MIRT2394310	hsa-miR-4514	CLIP-seq
MIRT2394311	hsa-miR-4692	CLIP-seq
MIRT2394312	hsa-miR-612	CLIP-seq
MIRT2621357	hsa-miR-1323	CLIP-seq
MIRT2621358	hsa-miR-371b-5p	CLIP-seq
MIRT2621359	hsa-miR-4318	CLIP-seq
MIRT2621360	hsa-miR-4693-5p	CLIP-seq
MIRT2621361	hsa-miR-483-3p	CLIP-seq
MIRT2621362	hsa-miR-548o	CLIP-seq
MIRT2621363	hsa-miR-888	CLIP-seq
MIRT2621364	hsa-miR-892a	CLIP-seq
MIRT2621357	hsa-miR-1323	CLIP-seq
MIRT2621358	hsa-miR-371b-5p	CLIP-seq
MIRT2621359	hsa-miR-4318	CLIP-seq
MIRT2621360	hsa-miR-4693-5p	CLIP-seq
MIRT2621361	hsa-miR-483-3p	CLIP-seq
MIRT2621362	hsa-miR-548o	CLIP-seq
MIRT2621363	hsa-miR-888	CLIP-seq
MIRT2621364	hsa-miR-892a	CLIP-seq

Show/Hide all (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005771	Component	Multivesicular body	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0007585	Process	Respiratory gaseous exchange by respiratory system	IEA
GO:0030246	Function	Carbohydrate binding	IEA
GO:0042599	Component	Lamellar body	IEA
GO:0042599	Component	Lamellar body	TAS
GO:0045334	Component	Clathrin-coated endocytic vesicle	IEA
GO:0045334	Component	Clathrin-coated endocytic vesicle	TAS

MIM	HGNC	e!Ensembl
178642	10799	ENSG00000185303

Q8IWL1

Protein name

Pulmonary surfactant-associated protein A2 (PSP-A) (PSPA) (SP-A) (SP-A2) (35 kDa pulmonary surfactant-associated protein) (Alveolar proteinosis protein) (Collectin-5)

Protein function

In presence of calcium ions, it binds to surfactant phospholipids and contributes to lower the surface tension at the air-liquid interface in the alveoli of the mammalian lung and is essential for normal respiration.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00059	Lectin_C	144 → 248	Lectin C-type domain	Domain

Sequence

MWLCPLALNLILMAASGAACEVKDVCVGSPGIPGTPGSHGLPGRDGRDGVKGDPGPPGPM
GPPGETPCPPGNNGLPGAPGVPGERGEKGEAGERGPPGLPAHLDEELQATLHDFRHQILQ
TRGALSLQGSIMTVGEKVFSSNGQSITFDAIQEACARAGGRIAVPRNPEENEAIASFVKK
YNTYAYVGLTEGPSPGDFRYSDGTPVNYTNWYRGEPAGRGKEQCVEMYTDGQWNDRNCLY
SRLTICEF

Sequence length

248

Interactions

View interactions

	KEGG		Reactome
	Phagosome Pertussis		Toll Like Receptor 4 (TLR4) Cascade Toll Like Receptor TLR1:TLR2 Cascade Signal regulatory protein family interactions Surfactant metabolism Regulation of TLR by endogenous ligand Defective SFTPA2 causes idiopathic pulmonary fibrosis (IPF) Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5) Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Interstitial lung disease 2	Pathogenic; Likely pathogenic	rs2132046635, rs2132045183, rs1319818753, rs121917737, rs121917738	RCV001780092 RCV001784080 RCV002284288 RCV000014086 RCV000014087
Pulmonary fibrosis	Pathogenic	rs121917737	RCV002509155

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Familial cancer of breast	Benign	rs182465294	RCV005894998
Lung cancer	Benign	rs182465294	RCV005894999
SFTPA2-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs1650232, rs1975008, rs17884396, rs17886395, rs1059046, rs187488613, rs201847938, rs368363771, rs746928576, rs546418144, rs183941812, rs757600924, rs1413730534, rs764760089, rs573531429 View all (12 more)	RCV003975786 RCV003975986 RCV004758197 RCV003977604 RCV003977603 RCV003917277 RCV003931907 RCV003904402 RCV003911820 RCV003977130 RCV003977314 RCV003911715 RCV003913899 RCV003914062 RCV003927330 RCV003934675 RCV003956920 RCV003942304 RCV003946972 RCV003976942 RCV003971424 RCV003971429 RCV003968919 RCV003969077 RCV003918241 RCV003936059 RCV003940717 RCV003940718

Show/Hide Text Mining Associations (37)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	25514367
Adenocarcinoma of Lung	Associate	32855221
Chronic Pain	Inhibit	31649376
Communicable Diseases	Associate	23328842
Communication Disorders	Associate	21310059
Cystic Fibrosis	Associate	30333828
Drug Related Side Effects and Adverse Reactions	Stimulate	1709823
Head and Neck Neoplasms	Stimulate	31649376
Idiopathic Interstitial Pneumonias	Associate	28066036
Idiopathic Pulmonary Fibrosis	Associate	19100526, 21543794, 23223528, 28066036, 32602668, 35720392, 36135709, 38069069
Infections	Associate	22523362
Inflammation	Associate	10689550, 31649376
Inflammation	Stimulate	27607236
Influenza Human	Associate	25184962
Lung Diseases	Associate	10689550, 12908879
Lung Diseases Interstitial	Associate	21613931, 32855221
Lung Injury	Associate	27588449
Lung Neoplasms	Associate	19100526, 19181417, 22509983, 23223528, 25514367, 26292924, 32855221, 38575158
Lymphoma Large B Cell Diffuse	Associate	33885377
Meningism	Associate	16891500
Neoplasm Invasiveness	Associate	16891500
Neoplasms	Inhibit	25514367
Otitis Media	Associate	16884531, 17456178
Pneumococcal Infections	Associate	16891500
Prader Willi Syndrome	Associate	27871485
Pulmonary Disease Chronic Obstructive	Associate	19797132
Pulmonary edema of mountaineers	Associate	26436397
Pulmonary Fibrosis	Associate	19100526
Respiratory Distress Syndrome	Associate	10762543, 11737731, 24950659, 26061924, 27835691
Respiratory Distress Syndrome In Premature Infants	Associate	10689550
Respiratory Insufficiency	Associate	24950659, 37888536
Respiratory Tract Diseases	Associate	23328842
Rhinitis Allergic	Associate	34028080
Spondylarthritis	Associate	21480186
Spondylitis Ankylosing	Associate	19543369
Tuberculosis	Associate	23328842
Tuberculosis Pulmonary	Associate	24984162

SFTPA2 (surfactant protein A2)