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Aliases for SFTA3 Gene

Aliases for SFTA3 Gene

  • Surfactant Associated 3 2 3 5
  • NKX2.1 Associated Non-Coding Intergenic RNA 2 3
  • Surfactant-Associated Protein H 3 4
  • SFTPH 3 4
  • SP-H 3 4
  • Nkx2.1-Associated Noncoding Intergenic RNA 3
  • Surfactant Associated Protein H 2
  • Surfactant-Associated Protein 3 3
  • Putative Protein SFTA3 3
  • NANCI 3

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 a Protein Coding gene. Diseases associated with SFTA3 include Spherocytosis, Type 1. Among its related pathways are Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4) and Surfactant metabolism.

Additional gene information for SFTA3 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SFTA3 Gene

Genomics for SFTA3 Gene

GeneHancer (GH) Regulatory Elements for SFTA3 Gene

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
GH14I036513 Promoter/Enhancer 1 EPDnew dbSUPER 550.8 +0.3 274 0.1 SP1 L3MBTL2 CTBP2 ZFX EZH2 SFTA3 ENSG00000257520 GC14P036424 ENSG00000283098
GH14I036515 Enhancer 0.9 FANTOM5 ENCODE dbSUPER 571.4 -1.0 -1020 0.6 SUZ12 CTBP2 EZH2 SFTA3 NKX2-1 MBIP NKX2-1-AS1 ENSG00000257520 ENSG00000283098
GH14I036514 Promoter/Enhancer 0.9 EPDnew dbSUPER 550.8 0.0 -43 0.1 SUZ12 CTBP2 EZH2 SFTA3 ENSG00000257520 NKX2-1-AS1 ENSG00000283098
GH14I036508 Enhancer 0.9 FANTOM5 dbSUPER 12.8 +5.5 5451 0.1 ZBTB10 MAZ RNF2 ZNF189 ZNF335 CBX8 GLIS2 ZBTB48 SMARCA4 PATZ1 NKX2-1 SFTA3 MBIP ENSG00000257520 GC14P036424 ENSG00000283098
GH14I036676 Enhancer 0.7 Ensembl ENCODE dbSUPER 10 -162.5 -162534 0.3 SP1 NKX2-8 RPL29P3 NKX2-1-AS1 NKX2-1 SFTA3 LOC105370455 PAX9 ENSG00000258690
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SFTA3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SFTA3 gene promoter:

Genomic Locations for SFTA3 Gene

Genomic Locations for SFTA3 Gene
chr14:36,473,288-36,513,829
(GRCh38/hg38)
Size:
40,542 bases
Orientation:
Minus strand
chr14:36,942,493-36,983,034
(GRCh37/hg19)

Genomic View for SFTA3 Gene

Genes around SFTA3 on UCSC Golden Path with GeneCards custom track

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

Protein Domains for SFTA3 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for SFTA3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

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

Function for SFTA3 Gene

Molecular function for SFTA3 Gene

UniProtKB/Swiss-Prot Induction:
By lipopolysaccharides (LPS). Down-regulated by cytokines IL1B and IL23.

Phenotypes From GWAS Catalog for SFTA3 Gene

Phenotypes for SFTA3 Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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
endoplasmic reticulum 4
nucleus 2
cytosol 2
cytoskeleton 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SFTA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0042599 lamellar body TAS --
GO:0045334 clathrin-coated endocytic vesicle 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

Interacting Proteins for SFTA3 Gene

Gene Ontology (GO) - Biological Process for SFTA3 Gene

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

No data available for SIGNOR curated interactions for SFTA3 Gene

Drugs & Compounds for SFTA3 Gene

No Compound Related Data Available

Transcripts for SFTA3 Gene

Unigene Clusters for SFTA3 Gene

Surfactant associated 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for SFTA3 Gene

GeneLoc Exon Structure for
SFTA3
ECgene alternative splicing isoforms for
SFTA3

Expression for SFTA3 Gene

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

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, PaxDb, and MOPED for SFTA3 Gene



Protein tissue co-expression partners for SFTA3 Gene

NURSA nuclear receptor signaling pathways regulating expression of SFTA3 Gene:

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 (at protein level) in lung alveolar cells type I and II, as well as alveolar macrophages.

Evidence on tissue expression from TISSUES for SFTA3 Gene

  • Lung(4.6)
genes like me logo Genes that share expression patterns with SFTA3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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 33 34
  • 98.58 (n)
Species where no ortholog for SFTA3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for SFTA3 Gene

No data available for Paralogs for SFTA3 Gene

Variants for SFTA3 Gene

Sequence variations from dbSNP and Humsavar for SFTA3 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000005645 -- 36,500,660(-) A/G intron_variant
rs1000010400 -- 36,495,027(-) T/A intron_variant
rs1000228404 -- 36,506,724(-) C/A intron_variant
rs1000261725 -- 36,481,013(-) G/T intron_variant
rs1000277861 -- 36,493,462(-) C/T intron_variant

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

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

Disorders for SFTA3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SFTA3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
spherocytosis, type 1
  • sph1
- elite association - COSMIC cancer census association via MalaCards
Search SFTA3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SFTA3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. Long noncoding RNAs are spatially correlated with transcription factors and regulate lung development. (PMID: 24939938) Herriges MJ … Morrisey EE (Genes & development 2014) 2 3 58
  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 58
  3. 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 44 58
  4. 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 58
  5. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PMID: 19913121) Talmud PJ … BRIGHT Consortium (American journal of human genetics 2009) 3 58

Products for SFTA3 Gene

Sources for SFTA3 Gene

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