This gene encodes a human homolog of Drosophila splicing regulatory protein. This gene autoregulates its expression by control of splicing of its first two introns. In addition, it also regulates the splicing of fibronectin and CD45 genes. Two transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012] See more...

Aliases for SFSWAP Gene

Aliases for SFSWAP Gene

  • Splicing Factor SWAP 2 3 5
  • SWAP 2 3 4
  • Splicing Factor, Arginine/Serine-Rich 8 (Suppressor-Of-White-Apricot, Drosophila Homolog) 2 3
  • Splicing Factor, Arginine/Serine-Rich 8 (Suppressor-Of-White-Apricot Homolog, Drosophila) 2 3
  • Splicing Factor, Suppressor Of White-Apricot Homolog 3 4
  • Suppressor Of White Apricot Protein Homolog 3 4
  • SFRS8 3 4
  • Splicing Factor, Suppressor Of White-Apricot Homolog (Drosophila) 2
  • Splicing Factor, Suppressor Of White-Apricot Family 3
  • Splicing Factor, Arginine/Serine-Rich 8 4
  • Splicing Factor SWAP Homolog 3
  • SFSWAP 5

External Ids for SFSWAP Gene

Previous HGNC Symbols for SFSWAP Gene

  • SFRS8

Previous GeneCards Identifiers for SFSWAP Gene

  • GC12P132196

Summaries for SFSWAP Gene

Entrez Gene Summary for SFSWAP Gene

  • This gene encodes a human homolog of Drosophila splicing regulatory protein. This gene autoregulates its expression by control of splicing of its first two introns. In addition, it also regulates the splicing of fibronectin and CD45 genes. Two transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012]

GeneCards Summary for SFSWAP Gene

SFSWAP (Splicing Factor SWAP) is a Protein Coding gene. Diseases associated with SFSWAP include Deafness, Autosomal Dominant 41 and Supraglottis Neoplasm. Among its related pathways are mRNA Splicing - Major Pathway. Gene Ontology (GO) annotations related to this gene include RNA binding. An important paralog of this gene is CLASRP.

UniProtKB/Swiss-Prot Summary for SFSWAP Gene

  • Plays a role as an alternative splicing regulator. Regulate its own expression at the level of RNA processing. Also regulates the splicing of fibronectin and CD45 genes. May act, at least in part, by interaction with other R/S-containing splicing factors. Represses the splicing of MAPT/Tau exon 10.

Additional gene information for SFSWAP Gene

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

Genomics for SFSWAP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SFSWAP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Genomic Locations for SFSWAP Gene

Genomic Locations for SFSWAP Gene
chr12:131,711,081-131,799,738
(GRCh38/hg38)
Size:
88,658 bases
Orientation:
Plus strand
chr12:132,195,626-132,284,282
(GRCh37/hg19)
Size:
88,657 bases
Orientation:
Plus strand

Genomic View for SFSWAP Gene

Genes around SFSWAP on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for SFSWAP Gene

Proteins for SFSWAP Gene

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

    Protein Symbol:
    Q12872-SFSWA_HUMAN
    Recommended name:
    Splicing factor, suppressor of white-apricot homolog
    Protein Accession:
    Q12872
    Secondary Accessions:
    • B2RN45
    • B7ZM97
    • F5H6B8
    • Q6PJF7

    Protein attributes for SFSWAP Gene

    Size:
    951 amino acids
    Molecular mass:
    104822 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for SFSWAP Gene

    Alternative splice isoforms for SFSWAP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SFSWAP Gene

Post-translational modifications for SFSWAP Gene

  • Ubiquitination at Lys473
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SFSWAP Gene

Domains & Families for SFSWAP Gene

Gene Families for SFSWAP Gene

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

Protein Domains for SFSWAP Gene

InterPro:
Blocks:
  • SWAP/Surp
ProtoNet:

Suggested Antigen Peptide Sequences for SFSWAP Gene

GenScript: Design optimal peptide antigens:
  • SFRS8 protein (A5PLM7_HUMAN)
  • SFRS8 protein (B7ZM97_HUMAN)
  • SFRS8 protein (Q8IV81_HUMAN)
  • Suppressor of white apricot protein homolog (SFSWA_HUMAN)
genes like me logo Genes that share domains with SFSWAP: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SFSWAP Gene

Function for SFSWAP Gene

Molecular function for SFSWAP Gene

UniProtKB/Swiss-Prot Function:
Plays a role as an alternative splicing regulator. Regulate its own expression at the level of RNA processing. Also regulates the splicing of fibronectin and CD45 genes. May act, at least in part, by interaction with other R/S-containing splicing factors. Represses the splicing of MAPT/Tau exon 10.

Phenotypes From GWAS Catalog for SFSWAP Gene

Gene Ontology (GO) - Molecular Function for SFSWAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0005515 protein binding IPI 26420826
genes like me logo Genes that share ontologies with SFSWAP: view
genes like me logo Genes that share phenotypes with SFSWAP: view

Animal Model Products

CRISPR Products

miRNA for SFSWAP Gene

miRTarBase miRNAs that target SFSWAP

Inhibitory RNA Products

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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SFSWAP Gene

Localization for SFSWAP Gene

Subcellular locations from UniProtKB/Swiss-Prot for SFSWAP Gene

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 SFSWAP gene
Compartment Confidence
nucleus 4
cytosol 3
plasma membrane 2
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SFSWAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with SFSWAP: view

Pathways & Interactions for SFSWAP Gene

PathCards logo

SuperPathways for SFSWAP Gene

SuperPathway Contained pathways
1 mRNA Splicing - Major Pathway
genes like me logo Genes that share pathways with SFSWAP: view

Pathways by source for SFSWAP Gene

1 BioSystems pathway for SFSWAP Gene

Gene Ontology (GO) - Biological Process for SFSWAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000380 alternative mRNA splicing, via spliceosome IEA --
GO:0000395 mRNA 5'-splice site recognition IEA,IBA 21873635
GO:0006396 RNA processing IEA --
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IEA --
genes like me logo Genes that share ontologies with SFSWAP: view

No data available for SIGNOR curated interactions for SFSWAP Gene

Drugs & Compounds for SFSWAP Gene

No Compound Related Data Available

Transcripts for SFSWAP Gene

mRNA/cDNA for SFSWAP Gene

3 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^
SP1: - -
SP2:
SP3: - -
SP4: -
SP5: -
SP6:
SP7: -
SP8:

ExUns: 19 ^ 20
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for SFSWAP Gene

GeneLoc Exon Structure for
SFSWAP

Expression for SFSWAP Gene

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

Protein differential expression in normal tissues from HIPED for SFSWAP Gene

This gene is overexpressed in Nasal epithelium (52.2).

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



Protein tissue co-expression partners for SFSWAP Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for SFSWAP Gene:

Hs.308171

Evidence on tissue expression from TISSUES for SFSWAP Gene

  • Skin(4.4)
  • Nervous system(4.4)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with SFSWAP: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SFSWAP Gene

Orthologs for SFSWAP Gene

This gene was present in the common ancestor of animals.

Orthologs for SFSWAP Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SFSWAP 31
  • 99 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia SFSWAP 30 31
  • 87.51 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SFSWAP 30 31
  • 86.1 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SFSWAP 31
  • 86 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Sfswap 30 17 31
  • 83.67 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SFSWAP 31
  • 83 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sfswap 30
  • 82.97 (n)
Chicken
(Gallus gallus)
Aves SFSWAP 31
  • 79 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SFSWAP 31
  • 75 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sfswap 30
  • 65.99 (n)
Str.16049 30
African clawed frog
(Xenopus laevis)
Amphibia LOC398537 30
Zebrafish
(Danio rerio)
Actinopterygii sfswap 30 31
  • 60.81 (n)
OneToOne
zgc56184 30
Fruit Fly
(Drosophila melanogaster)
Insecta su(w[a]) 31
  • 28 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea swp-1 31
  • 26 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 28 (a)
OneToOne
Species where no ortholog for SFSWAP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Wheat (Triticum aestivum)

Evolution for SFSWAP Gene

ENSEMBL:
Gene Tree for SFSWAP (if available)
TreeFam:
Gene Tree for SFSWAP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SFSWAP: view image

Paralogs for SFSWAP Gene

Paralogs for SFSWAP Gene

(1) SIMAP similar genes for SFSWAP Gene using alignment to 4 proteins:

  • SFSWA_HUMAN
  • F5H1A5_HUMAN
  • F5H5X1_HUMAN
  • H0YFR9_HUMAN
genes like me logo Genes that share paralogs with SFSWAP: view

Variants for SFSWAP Gene

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

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs1051207 - p.Leu52Gln
rs1051314 - p.Leu122Phe
rs1131564 - p.Leu136Phe
rs1982528 - p.Leu421Pro
rs34541796 - p.Gly512Ser

Additional dbSNP identifiers (rs#s) for SFSWAP Gene

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

Variant ID Type Subtype PubMed ID
dgv1588n100 CNV gain 25217958
dgv3007n54 CNV loss 21841781
esv1251086 CNV insertion 17803354
esv2746894 CNV deletion 23290073
esv2746895 CNV deletion 23290073
esv2751042 CNV gain 17911159
esv2759922 CNV gain+loss 17122850
esv2761778 CNV gain 21179565
esv34554 CNV gain 17911159
esv3631272 CNV gain 21293372
esv3631274 CNV gain 21293372
esv997559 CNV insertion 20482838
nsv1047271 CNV gain 25217958
nsv1052544 CNV gain 25217958
nsv455803 CNV gain 19166990
nsv52992 CNV insertion 16902084
nsv560910 CNV loss 21841781
nsv560927 CNV gain 21841781
nsv560928 CNV gain 21841781
nsv818946 CNV gain 17921354
nsv826560 CNV gain 20364138
nsv832555 CNV loss 17160897
nsv9044 CNV gain 18304495

Variation tolerance for SFSWAP Gene

Residual Variation Intolerance Score: 11.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.16; 51.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SFSWAP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SFSWAP

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

Disorders for SFSWAP Gene

MalaCards: The human disease database

(3) MalaCards diseases for SFSWAP Gene - From: DISEASES

Disorder Aliases PubMed IDs
deafness, autosomal dominant 41
  • dfna41
supraglottis neoplasm
  • neoplasm of supraglottis
melanoma, cutaneous malignant 1
  • melanoma, cutaneous malignant, susceptibility to, 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SFSWAP

genes like me logo Genes that share disorders with SFSWAP: view

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

Publications for SFSWAP Gene

  1. The mammalian homolog of suppressor-of-white-apricot regulates alternative mRNA splicing of CD45 exon 4 and fibronectin IIICS. (PMID: 8940107) Sarkissian M … Lafyatis R (The Journal of biological chemistry 1996) 2 3 4
  2. The candidate splicing factor Sfswap regulates growth and patterning of inner ear sensory organs. (PMID: 24391519) Moayedi Y … Groves AK (PLoS genetics 2014) 2 3
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  4. Conservation of regulated alternative splicing and identification of functional domains in vertebrate homologs to the Drosophila splicing regulator, suppressor-of-white-apricot. (PMID: 8206918) Denhez F … Lafyatis R (The Journal of biological chemistry 1994) 3 4
  5. H4K20me0 recognition by BRCA1-BARD1 directs homologous recombination to sister chromatids. (PMID: 30804502) Nakamura K … Groth A (Nature cell biology 2019) 3

Products for SFSWAP Gene

Sources for SFSWAP Gene