Aliases for SFTA3 Gene

RNA type for SFTA3 Gene

lncRNA

Aliases for SFTA3 Gene

External Ids for SFTA3 Gene

Previous HGNC Symbols for SFTA3 Gene

  • SFTPH

Previous GeneCards Identifiers for SFTA3 Gene

  • GC14M036014
  • GC14M036942
  • GC14M017057

Summaries for SFTA3 Gene

GeneCards Summary for SFTA3 Gene

SFTA3 (Surfactant Associated 3) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with SFTA3 include Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction and Chorea, Benign Hereditary. Among its related pathways are Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5) and Diseases of metabolism.

UniProtKB/Swiss-Prot Summary for SFTA3 Gene

  • Putative surfactant protein. May be involved in wound healing and in the reduction of the surface tension at the ocular surface.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SFTA3 Gene

Genomics for SFTA3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SFTA3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J036520 Promoter/Enhancer 0.9 EPDnew dbSUPER 250.7 -0.7 -694 0.1 ZNF341 KLF9 ZNF189 GLIS1 ZNF398 ZNF561 CTCF PKNOX1 ZEB2 GLIS2 ENSG00000257520 SFTA3 NKX2-1 NKX2-1-AS1 ENSG00000283098 MBIP
GH14J036522 Promoter/Enhancer 0.9 Ensembl dbSUPER 250.7 -1.5 -1544 0.2 MBD1 CTCF CBX8 L3MBTL2 ZNF629 ZNF692 EZH2 RNF2 ZGPAT ZBTB26 ENSG00000257520 SFTA3 NKX2-1 NKX2-1-AS1 NKX2-8 ENSG00000283098 MBIP
GH14J036518 Promoter/Enhancer 0.8 EPDnew dbSUPER 250.7 0.0 -2 0.1 ZBTB10 CBX8 ZBTB8A PRDM10 EZH2 ZNF335 SCRT2 ENSG00000257520 SFTA3 NKX2-1 NKX2-1-AS1 ENSG00000283098 MBIP
GH14J036513 Promoter/Enhancer 0.8 EPDnew dbSUPER 250.4 +6.0 6001 0.1 EGR1 SP1 ZFX L3MBTL2 EZH2 SFTA3 ENSG00000257520 NKX2-1 NKX2-1-AS1 lnc-PAX9-5 ENSG00000283098 MBIP
GH14J036523 Promoter/Enhancer 0.7 EPDnew dbSUPER 250.7 -1.7 -1683 0.1 CBX8 EZH2 ENSG00000257520 LOC105370453 SFTA3 NKX2-1 NKX2-1-AS1 NKX2-8 ENSG00000283098
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SFTA3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SFTA3

Top Transcription factor binding sites by QIAGEN in the SFTA3 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • c-Myc
  • Egr-1
  • IRF-1
  • Max
  • Nkx2-5
  • POU2F1
  • POU2F1a
  • STAT3

Genomic Locations for SFTA3 Gene

Latest Assembly
chr14:36,473,206-36,519,556
(GRCh38/hg38)
Size:
46,351 bases
Orientation:
Minus strand

Previous Assembly
chr14:36,942,493-36,988,761
(GRCh37/hg19 by Entrez Gene)
Size:
46,269 bases
Orientation:
Minus strand

chr14:36,942,493-36,983,034
(GRCh37/hg19 by Ensembl)
Size:
40,542 bases
Orientation:
Minus strand

Genomic View for SFTA3 Gene

Genes around SFTA3 on UCSC Golden Path with GeneCards custom track
SFTA3 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Cytogenetic band:
SFTA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SFTA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SFTA3 Gene

Proteins for SFTA3 Gene

  • Protein details for SFTA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0C7M3-SFTA3_HUMAN
    Recommended name:
    Surfactant-associated protein 3
    Protein Accession:
    P0C7M3

    Protein attributes for SFTA3 Gene

    Size:
    94 amino acids
    Molecular mass:
    10526 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SFTA3 Gene

Post-translational modifications for SFTA3 Gene

No Post-translational modifications

No data available for DME Specific Peptides for SFTA3 Gene

Domains & Families for SFTA3 Gene

Gene Families for SFTA3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for SFTA3 Gene

GenScript: Design optimal peptide antigens:
  • Surfactant-associated protein H (SFTA3_HUMAN)
genes like me logo Genes that share domains with SFTA3: view

No data available for Protein Domains , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SFTA3 Gene

Function for SFTA3 Gene

Molecular function for SFTA3 Gene

UniProtKB/Swiss-Prot Function:
Putative surfactant protein. May be involved in wound healing and in the reduction of the surface tension at the ocular surface.
UniProtKB/Swiss-Prot Induction:
By lipopolysaccharides (LPS). Down-regulated by cytokines IL1B; TNF and IL23 (PubMed:24743970, PubMed:29955092). Up-regulated in tears from patients suffering from different forms of dry eye disease (DED) (PubMed:29955092).

Phenotypes From GWAS Catalog for SFTA3 Gene

Phenotypes for SFTA3 Gene

genes like me logo Genes that share phenotypes with SFTA3: view

CRISPR products for research

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SFTA3 Gene

Localization for SFTA3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SFTA3 Gene

Cytoplasm. Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SFTA3 gene
Compartment Confidence
extracellular 5
nucleus 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SFTA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 24743970
GO:0005737 cytoplasm IDA 24743970
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0042599 lamellar body TAS --
genes like me logo Genes that share ontologies with SFTA3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SFTA3 Gene

Pathways & Interactions for SFTA3 Gene

genes like me logo Genes that share pathways with SFTA3: view

Gene Ontology (GO) - Biological Process for SFTA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042060 wound healing IMP 29955092
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with SFTA3: view

No data available for Interacting Proteins and SIGNOR curated interactions for SFTA3 Gene

Drugs & Compounds for SFTA3 Gene

No Compound Related Data Available

Transcripts for SFTA3 Gene

Non-coding RNA (ncRNA) Transcripts from RNAcentral for SFTA3 Gene

RNAcentral Transcript ID RNA Type Length (nts) # of Sources Source Identifiers and Annotations
URS00008B5AA1_9606 lncRNA 685 2

Ensembl: ENST00000518987 (view in UCSC) ,

LNCipedia: lnc-SFTA3-1:2,

URS00008B2796_9606 lncRNA 316 2

Ensembl: ENST00000521380 (view in UCSC) ,

LNCipedia: lnc-SFTA3-1:4,

URS0000E60B1A_9606 lncRNA 1879 1

RefSeq: NR_138600,

URS0000E60A8A_9606 lncRNA 1858 1

RefSeq: NR_138598,

URS0000E60A19_9606 lncRNA 1695 1

RefSeq: NR_138597,

SFTA3 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Additional transcripts not in RNAcentral for SFTA3 Gene

4 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR products for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SFTA3

Alternative Splicing Database (ASD) splice patterns (SP) for SFTA3 Gene

No ASD Table

Relevant External Links for SFTA3 Gene

GeneLoc Exon Structure for
SFTA3

Expression for SFTA3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SFTA3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SFTA3 Gene

This gene is overexpressed in Thyroid (x28.2) and Lung (x21.3).

Protein differential expression in normal tissues from HIPED for SFTA3 Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SFTA3 Gene



Protein tissue co-expression partners for SFTA3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SFTA3

SOURCE GeneReport for Unigene cluster for SFTA3 Gene:

Hs.509165

mRNA Expression by UniProt/SwissProt for SFTA3 Gene:

P0C7M3-SFTA3_HUMAN
Tissue specificity: Found in lung alveolar cells type I and II, as well as alveolar macrophages (at protein level). Detected also in testis and kidney. Expressed by different tissues of the ocular system like cornea, conjuctiva, lacrimal gland, eyelid and efferent tear ducts (at protein level). From these tissues is secreted into the tear film (at protein level) (PubMed:29955092).

Evidence on tissue expression from TISSUES for SFTA3 Gene

  • Lung(4.6)
  • Thyroid gland(2.6)
  • Nervous system(2.4)
  • Intestine(2.3)
  • Eye(2.2)
  • Skin(2.2)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with SFTA3: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SFTA3 Gene

Orthologs for SFTA3 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for SFTA3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SFTA3 29 30
  • 98.58 (n)
OneToOne
Species where no ortholog for SFTA3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Mouse (Mus musculus)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for SFTA3 Gene

ENSEMBL:
Gene Tree for SFTA3 (if available)
TreeFam:
Gene Tree for SFTA3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SFTA3: view image
Alliance of Genome Resources:
Additional Orthologs for SFTA3

Paralogs for SFTA3 Gene

No data available for Paralogs for SFTA3 Gene

Variants for SFTA3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SFTA3 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
1000583 Uncertain Significance: not provided 36,517,681(-) C/CCCCCGCCGA
NM_001079668.3(NKX2-1):c.802_803insTCGGCGGGG (p.Gly268_Gly269insValGlyGly)
INFRAME_INSERTION
870855 Pathogenic: not provided 36,517,992(-) GC/G
NM_001079668.3(NKX2-1):c.491del (p.Gly164fs)
FRAMESHIFT
870856 Pathogenic: not provided 36,519,016(-) G/T
NM_001079668.3(NKX2-1):c.432C>A (p.Tyr144Ter)
NONSENSE
881936 Benign: Choreoathetosis, hypothyroidism, and neonatal respiratory distress; Benign hereditary chorea 36,517,099(-) A/G
NM_001079668.3(NKX2-1):c.*179T>C
THREE_PRIME_UTR
883116 Uncertain Significance: Choreoathetosis, hypothyroidism, and neonatal respiratory distress; Benign hereditary chorea 36,517,566(-) C/A
NM_001079668.3(NKX2-1):c.918G>T (p.Ala306=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SFTA3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SFTA3 Gene

Variant ID Type Subtype PubMed ID
esv2748601 CNV deletion 23290073
esv2748602 CNV deletion 23290073
esv2748603 CNV deletion 23290073
esv990813 CNV deletion 20482838
nsv826922 CNV gain 20364138
nsv832771 CNV loss 17160897

Variation tolerance for SFTA3 Gene

Residual Variation Intolerance Score: 68.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.75; 33.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SFTA3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SFTA3
Leiden Open Variation Database (LOVD)
SFTA3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SFTA3 Gene

Disorders for SFTA3 Gene

MalaCards: The human disease database

(39) MalaCards diseases for SFTA3 Gene - From: CVR, COP, and GCD

Additional Disease Information for SFTA3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SFTA3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SFTA3 Gene

Publications for SFTA3 Gene

  1. SFTA3 - a novel surfactant protein of the ocular surface and its role in corneal wound healing and tear film surface tension. (PMID: 29955092) Schicht M … Bräuer L (Scientific reports 2018) 3 4
  2. SFTA3, a novel protein of the lung: three-dimensional structure, characterisation and immune activation. (PMID: 24743970) Schicht M … Bräuer L (The European respiratory journal 2014) 3 4
  3. Long noncoding RNAs are spatially correlated with transcription factors and regulate lung development. (PMID: 24939938) Herriges MJ … Morrisey EE (Genes & development 2014) 2 3
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 40
  5. Expression of recombinant surfactant protein SFTA3 in the human kidney cell line HEK 293T. (PMID: 28163207) Schröder H … Schicht M (Annals of anatomy = Anatomischer Anzeiger : official organ of the Anatomische Gesellschaft 2017) 3

Products for SFTA3 Gene

Sources for SFTA3 Gene