SFTA2

gene
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Also known as SP-G

Summary

SFTA2 (surfactant associated 2, HGNC:18386) is a protein-coding gene on chromosome 6p21.33, encoding Surfactant-associated protein 2 (Q6UW10). Putative surfactant protein.

Predicted to be located in Golgi apparatus; extracellular region; and transport vesicle.

Source: NCBI Gene 389376 — RefSeq curated summary.

At a glance

  • GWAS associations: 23
  • Clinical variants (ClinVar): 6 total
  • MANE Select transcript: NM_205854

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:18386
Approved symbolSFTA2
Namesurfactant associated 2
Location6p21.33
Locus typegene with protein product
StatusApproved
AliasesSP-G
Ensembl geneENSG00000196260
Ensembl biotypeprotein_coding
Entrez389376

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 1 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000359086, ENST00000474914, ENST00000634371

RefSeq mRNA: 1 — MANE Select: NM_205854 NM_205854

CCDS: CCDS4691

Canonical transcript exons

ENST00000359086 — 3 exons

ExonStartEnd
ENSE000016731253093170730931795
ENSE000017277353093203630932170
ENSE000036720043093135330931574

Expression profiles

Bgee: expression breadth ubiquitous, 121 present calls, max score 99.03.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.8501 / max 287.3016, expressed in 60 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
726210.467950
726200.295727
726220.086524

Top tissues by expression

130 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
right lungUBERON:000216799.03gold quality
upper lobe of left lungUBERON:000895298.92gold quality
lower esophagus mucosaUBERON:003583496.67gold quality
lungUBERON:000204895.80gold quality
esophagus mucosaUBERON:000246989.42gold quality
gall bladderUBERON:000211087.96gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047387.84gold quality
metanephros cortexUBERON:001053377.62gold quality
vaginaUBERON:000099675.03gold quality
islet of LangerhansUBERON:000000674.66gold quality
body of stomachUBERON:000116172.63gold quality
body of pancreasUBERON:000115071.71gold quality
pancreasUBERON:000126471.61gold quality
esophagusUBERON:000104369.85gold quality
mucosa of stomachUBERON:000119969.01gold quality
right lobe of thyroid glandUBERON:000111968.85gold quality
adult mammalian kidneyUBERON:000008268.39gold quality
stomachUBERON:000094568.15gold quality
left lobe of thyroid glandUBERON:000112065.96gold quality
thyroid glandUBERON:000204664.63gold quality
apex of heartUBERON:000209864.02gold quality
fundus of stomachUBERON:000116063.81gold quality
right uterine tubeUBERON:000130263.70gold quality
cortex of kidneyUBERON:000122563.57gold quality
kidneyUBERON:000211363.02gold quality
ectocervixUBERON:001224961.30gold quality
C1 segment of cervical spinal cordUBERON:000646960.46gold quality
substantia nigraUBERON:000203859.47gold quality
right testisUBERON:000453459.44gold quality
left testisUBERON:000453358.97gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

ExperimentMarker?Max mean expression
E-CURD-126yes2451.57
E-GEOD-86618yes30.12
E-ANND-3no0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

2 targeting SFTA2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-429199.2068.882969
HSA-MIR-6893-3P97.7964.911238

Literature-anchored findings (GeneRIF, showing 3)

  • SFTA2 was characterized as a novel unique secretory peptide highly expressed in the lung. (PMID:22768197)
  • A novel secretory surfactant protein SFTA2 is expressed in different tissues (lung, eyelid, kidney, and testis)and possesses surface-regulatory properties. (PMID:23094088)
  • SP-G is a potential new cerebrospinal fluid (CSF) biomarker, possibly not only reflecting aspects of CNS innate immune responses, but also rheo-dynamically relevant changes of CSF composition. (PMID:30032421)

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusSfta2ENSMUSG00000090509
rattus_norvegicusSfta2ENSRNOG00000048987

Protein

Protein identifiers

Surfactant-associated protein 2Q6UW10 (reviewed: Q6UW10)

Alternative names: Surfactant-associated protein G

All UniProt accessions (2): Q6UW10, A0A1U9X8K0

UniProt curated annotations — full annotation on UniProt →

Function. Putative surfactant protein.

Subcellular location. Secreted. Cytoplasmic vesicle. Secretory vesicle. Golgi apparatus.

Tissue specificity. Predominantly expressed in lung, where it is detected in type II pneumocytes in the alveolus, and in nonciliated epithelium in bronchioli (at protein level). Also detected at lower levels in cervix, esophagus, stomach, testis and kidney.

Post-translational modifications. N-glycosylated.

RefSeq proteins (1): NP_995326* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR028198SFTA2Family

Pfam: PF15210

UniProt features (4 total): signal peptide 1, chain 1, glycosylation site 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q6UW10-F167.280.00

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (1): 37

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 22 (showing top): DIDO1_TARGET_GENES, SUPT16H_TARGET_GENES, TAF9B_TARGET_GENES, ZNF768_TARGET_GENES, GSE12366_PLASMA_CELL_VS_NAIVE_BCELL_UP, BDP1_TARGET_GENES, ZC3H11A_TARGET_GENES, GTF2A2_TARGET_GENES, EWSR1_TARGET_GENES, MEF2C_TARGET_GENES, GSE18791_CTRL_VS_NEWCASTLE_VIRUS_DC_1H_DN, GAVISH_3CA_MALIGNANT_METAPROGRAM_31_ALVEOLAR, GAVISH_3CA_METAPROGRAM_EPITHELIAL_ALVEOLAR, LIANG_PANCREATIC_CANCER_DENDRITIC_CELL_GENES, NABA_ECM_AFFILIATED

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (4): extracellular region (GO:0005576), Golgi apparatus (GO:0005794), transport vesicle (GO:0030133), cytoplasmic vesicle (GO:0031410)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cytoplasm2
endomembrane system2
cellular anatomical structure1
intracellular membrane-bounded organelle1
cytoplasmic vesicle1
intracellular vesicle1

Protein interactions and networks

STRING

368 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
SFTA2SFTA3P0C7M3590
SFTA2MUCL3Q3MIW9479
SFTA2X6REF7X6REF7471
SFTA2SFTPA2P07714467
SFTA2VARS1P26640447
SFTA2SCGB3A2Q96PL1436
SFTA2SFTPCP11686421
SFTA2VARS2Q5ST30418
SFTA2TCF19Q9Y242396
SFTA2SFTPDP35247390
SFTA2SFTPBP07988374
SFTA2PGPEP1LA6NFU8370
SFTA2GTF2H4Q92759367
SFTA2RSPH1Q8WYR4365
SFTA2RFESDQ8TAC1349

IntAct

3 interactions, top by confidence:

ABTypeScore
SFTA2TBCEpsi-mi:“MI:0914”(association)0.530
SFTA2SEPTIN2psi-mi:“MI:0914”(association)0.350

BioGRID (13): TBCE (Affinity Capture-MS), ABHD17B (Affinity Capture-MS), CBWD1 (Affinity Capture-MS), NMD3 (Affinity Capture-MS), SEPT2 (Affinity Capture-MS), OAF (Affinity Capture-MS), CRNN (Affinity Capture-MS), CBWD2 (Affinity Capture-MS), ABHD17B (Affinity Capture-MS), CBWD1 (Affinity Capture-MS), CRNN (Affinity Capture-MS), TBCE (Affinity Capture-MS), OAF (Affinity Capture-MS)

ESM2 similar proteins: A0A140LIA7, A0A2Y9GDB5, A0JNN2, A6NJJ6, A6QNY1, E1BLZ4, E1C7U0, E9PXB6, O88324, P01586, P06740, P08700, P16772, P20109, P35225, P42203, P51748, Q08648, Q08E62, Q0MUT8, Q13790, Q1HVF6, Q1JQE1, Q28809, Q3KSS3, Q4KM46, Q5EAA5, Q5JTB6, Q5M889, Q5R7E2, Q5U2R2, Q5XIF1, Q63072, Q6P0A1, Q6PDA7, Q6UJB9, Q6UW10, Q7TSF4, Q86XT9, Q8N6T0

Diamond homologs: A0JNN2, E9PXB6, Q6UW10

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

6 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance5
Likely benign0
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

369 predictions. Top by Δscore:

VariantEffectΔscore
6:30931570:CAGAG:Cacceptor_gain0.9800
6:30931575:C:CCacceptor_gain0.9800
6:30952965:TCACA:Tacceptor_loss0.9800
6:30952966:CACA:Cacceptor_loss0.9800
6:30952968:CA:Cacceptor_loss0.9800
6:30952970:G:Aacceptor_loss0.9800
6:30931704:TAC:Tdonor_loss0.9700
6:30931705:AC:Adonor_loss0.9700
6:30931706:CCT:Cdonor_loss0.9700
6:30941079:CAGGT:Cdonor_loss0.9700
6:30941080:AG:Adonor_loss0.9700
6:30941081:GG:Gdonor_loss0.9700
6:30941082:G:Cdonor_loss0.9700
6:30941083:T:Adonor_loss0.9700
6:30931571:AGAGC:Aacceptor_loss0.9600
6:30931572:GAG:Gacceptor_gain0.9600
6:30931573:AGCT:Aacceptor_loss0.9600
6:30931574:GCT:Gacceptor_loss0.9600
6:30931575:C:Tacceptor_loss0.9600
6:30931576:T:Cacceptor_loss0.9600
6:30952969:A:AGacceptor_gain0.9600
6:30952970:G:GGacceptor_gain0.9600
6:30931793:GCCCT:Gacceptor_loss0.9500
6:30931794:CCCT:Cacceptor_loss0.9500
6:30931795:CCTG:Cacceptor_loss0.9500
6:30931796:C:CCacceptor_gain0.9500
6:30931796:C:Gacceptor_loss0.9500
6:30931797:T:Aacceptor_loss0.9500
6:30932030:CCTCA:Cdonor_loss0.9500
6:30932031:CTCA:Cdonor_loss0.9500

AlphaMissense

492 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
6:30931537:A:TV63D0.797
6:30931498:C:GC76S0.784
6:30931499:A:TC76S0.784
6:30931569:G:CC52W0.781
6:30931571:A:GC52R0.761
6:30931570:C:GC52S0.744
6:30931571:A:TC52S0.744
6:30931570:C:TC52Y0.722
6:30931499:A:GC76R0.715
6:30931780:A:GL26S0.711
6:30931498:C:TC76Y0.700
6:30931497:G:CC76W0.686
6:30931774:A:GL28P0.648
6:30931555:A:GL57P0.635
6:30931725:G:CF44L0.629
6:30931725:G:TF44L0.629
6:30931727:A:GF44L0.629
6:30931555:A:TL57H0.611
6:30931714:A:TL48H0.583
6:30931537:A:CV63G0.581

dbSNP variants (sampled 300 via entrez): RS1000665033 (6:30933148 C>T), RS1000715536 (6:30933426 G>T), RS1002854370 (6:30932255 G>C,T), RS1003054175 (6:30933936 T>C), RS1003653046 (6:30931024 C>T), RS1007645474 (6:30933720 G>A), RS1007861070 (6:30932508 A>T), RS1011134247 (6:30931065 G>A), RS1011654146 (6:30934073 T>C), RS1012289879 (6:30933848 C>G), RS1015248226 (6:30932930 T>C), RS1019024393 (6:30931132 C>G), RS1023541691 (6:30932788 C>T), RS1023867119 (6:30932345 G>A), RS1024181389 (6:30931629 G>A)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

23 associations (top):

StudyTraitp-value
GCST004521_114Autism spectrum disorder or schizophrenia3.000000e-17
GCST004521_117Autism spectrum disorder or schizophrenia3.000000e-15
GCST004521_131Autism spectrum disorder or schizophrenia2.000000e-10
GCST004521_132Autism spectrum disorder or schizophrenia2.000000e-09
GCST004521_171Autism spectrum disorder or schizophrenia4.000000e-14
GCST004521_19Autism spectrum disorder or schizophrenia2.000000e-12
GCST004521_2Autism spectrum disorder or schizophrenia2.000000e-16
GCST004521_209Autism spectrum disorder or schizophrenia5.000000e-16
GCST004521_210Autism spectrum disorder or schizophrenia5.000000e-15
GCST004521_211Autism spectrum disorder or schizophrenia5.000000e-15
GCST004521_265Autism spectrum disorder or schizophrenia7.000000e-14
GCST004521_27Autism spectrum disorder or schizophrenia1.000000e-09
GCST004521_295Autism spectrum disorder or schizophrenia6.000000e-18
GCST004521_3Autism spectrum disorder or schizophrenia2.000000e-15
GCST004521_33Autism spectrum disorder or schizophrenia1.000000e-08
GCST004521_48Autism spectrum disorder or schizophrenia1.000000e-09
GCST004521_70Autism spectrum disorder or schizophrenia8.000000e-20
GCST004746_6Small cell lung carcinoma2.000000e-06
GCST004899_4Gestational age at birth (maternal effect)2.000000e-06
GCST010725_70Malaria5.000000e-06
GCST010725_9Malaria6.000000e-06
GCST010769_2Asthma (time to event)4.000000e-08
GCST011426_13Systemic lupus erythematosus6.000000e-07

EFO canonical traits (3, from GWAS)

EFO IDTrait name
EFO:0005112gestational age
EFO:0005939parental genotype effect measurement
EFO:0004918age at diagnosis

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

ChemicalActions (top 5)PubMed papers
hydroquinoneincreases expression1
CGP 52608affects binding, increases reaction1
Grape Seed Proanthocyanidinsincreases expression, affects cotreatment1
Resveratrolaffects cotreatment, decreases expression1
Air Pollutantsincreases abundance, increases expression1
Benzo(a)pyreneaffects methylation, increases methylation1
Cadmiumincreases expression1
Catechinincreases expression, affects cotreatment1
Plant Extractsdecreases expression, affects cotreatment1
Progesteronedecreases expression1
Permethrinincreases expression1
Particulate Matterincreases abundance, increases expression1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): small cell lung carcinoma