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Aliases for SWAP70 Gene

Aliases for SWAP70 Gene

  • SWAP Switching B-Cell Complex 70kDa Subunit 2 3 5
  • SWAP-70 3 4
  • KIAA0640 4
  • HSPC321 3

External Ids for SWAP70 Gene

Previous GeneCards Identifiers for SWAP70 Gene

  • GC11P010697
  • GC11P010255
  • GC11P009724
  • GC11P009649
  • GC11P009642
  • GC11P009358
  • GC11P009685

Summaries for SWAP70 Gene

GeneCards Summary for SWAP70 Gene

SWAP70 (SWAP Switching B-Cell Complex 70kDa Subunit) is a Protein Coding gene. Diseases associated with SWAP70 include common variable immunodeficiency. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is DEF6.

UniProtKB/Swiss-Prot for SWAP70 Gene

  • Phosphatidylinositol 3,4,5-trisphosphate-dependent guanine nucleotide exchange factor (GEF) which, independently of RAS, transduces signals from tyrosine kinase receptors to RAC. It also mediates signaling of membrane ruffling. Regulates the actin cytoskeleton as an effector or adapter protein in response to agonist stimulated phosphatidylinositol (3,4)-bisphosphate production and cell protrusion (By similarity).

Gene Wiki entry for SWAP70 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SWAP70 Gene

Genomics for SWAP70 Gene

Regulatory Elements for SWAP70 Gene

Promoters for SWAP70 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SWAP70 on UCSC Golden Path with GeneCards custom track

Genomic Location for SWAP70 Gene

Chromosome:
11
Start:
9,664,077 bp from pter
End:
9,752,991 bp from pter
Size:
88,915 bases
Orientation:
Plus strand

Genomic View for SWAP70 Gene

Genes around SWAP70 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SWAP70 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SWAP70 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SWAP70 Gene

Proteins for SWAP70 Gene

  • Protein details for SWAP70 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UH65-SWP70_HUMAN
    Recommended name:
    Switch-associated protein 70
    Protein Accession:
    Q9UH65
    Secondary Accessions:
    • D3DQV1
    • O75135
    • Q7LCY6
    • Q9P061
    • Q9P0Z8

    Protein attributes for SWAP70 Gene

    Size:
    585 amino acids
    Molecular mass:
    68998 Da
    Quaternary structure:
    • The SWAP complex consists of NPM1, NCL, PARP1 and SWAP70.
    SequenceCaution:
    • Sequence=AAF28999.1; Type=Frameshift; Positions=480, 483; Evidence={ECO:0000305}; Sequence=BAA31615.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SWAP70 Gene

neXtProt entry for SWAP70 Gene

Proteomics data for SWAP70 Gene at MOPED

Post-translational modifications for SWAP70 Gene

Other Protein References for SWAP70 Gene

Antibody Products

No data available for DME Specific Peptides for SWAP70 Gene

Domains & Families for SWAP70 Gene

Protein Domains for SWAP70 Gene

Suggested Antigen Peptide Sequences for SWAP70 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UH65

UniProtKB/Swiss-Prot:

SWP70_HUMAN :
  • The PH domain is essential for phosphatidylinositol 3,4,5-trisphosphate binding.
Domain:
  • The PH domain is essential for phosphatidylinositol 3,4,5-trisphosphate binding.
  • Contains 1 PH domain.
genes like me logo Genes that share domains with SWAP70: view

Function for SWAP70 Gene

Molecular function for SWAP70 Gene

UniProtKB/Swiss-Prot Function:
Phosphatidylinositol 3,4,5-trisphosphate-dependent guanine nucleotide exchange factor (GEF) which, independently of RAS, transduces signals from tyrosine kinase receptors to RAC. It also mediates signaling of membrane ruffling. Regulates the actin cytoskeleton as an effector or adapter protein in response to agonist stimulated phosphatidylinositol (3,4)-bisphosphate production and cell protrusion (By similarity).
genes like me logo Genes that share phenotypes with SWAP70: view

Animal Models for SWAP70 Gene

MGI Knock Outs for SWAP70:

Animal Model Products

  • Taconic Biosciences Mouse Models for SWAP70

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SWAP70 Gene

Localization for SWAP70 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SWAP70 Gene

Cytoplasm. Cell membrane. Nucleus. Cell projection, lamellipodium. Cytoplasm, cytoskeleton. Note=In resting B-cells it is localized mainly in the cytoplasm and upon cell activation it is recruited to the plasma membrane and then translocates to the nucleus (PubMed:10681448). In activated, class-switching B-cells it is associated with membrane IgG but not IgM (PubMed:10681448). Localized to loose actin filament arrays located behind actively extending lamellipodia (PubMed:12925760). {ECO:0000269 PubMed:10681448, ECO:0000269 PubMed:12925760}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SWAP70 Gene COMPARTMENTS Subcellular localization image for SWAP70 gene
Compartment Confidence
cytoskeleton 4
cytosol 4
nucleus 4
plasma membrane 4
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for SWAP70 Gene

Pathways & Interactions for SWAP70 Gene

SuperPathways for SWAP70 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SWAP70 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007204 positive regulation of cytosolic calcium ion concentration IEA --
GO:0008064 regulation of actin polymerization or depolymerization IEA --
GO:0030835 negative regulation of actin filament depolymerization IEA --
GO:0032880 regulation of protein localization IEA --
GO:0051017 actin filament bundle assembly IEA --
genes like me logo Genes that share ontologies with SWAP70: view

No data available for Pathways by source and SIGNOR curated interactions for SWAP70 Gene

Drugs & Compounds for SWAP70 Gene

(4) Drugs for SWAP70 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(2) Additional Compounds for SWAP70 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SWAP70: view

Transcripts for SWAP70 Gene

Unigene Clusters for SWAP70 Gene

SWAP switching B-cell complex 70kDa subunit:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SWAP70 Gene

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

Relevant External Links for SWAP70 Gene

GeneLoc Exon Structure for
SWAP70
ECgene alternative splicing isoforms for
SWAP70

Expression for SWAP70 Gene

mRNA expression in normal human tissues for SWAP70 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SWAP70 Gene

This gene is overexpressed in Lymph node (35.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SWAP70 Gene



SOURCE GeneReport for Unigene cluster for SWAP70 Gene Hs.153026

mRNA Expression by UniProt/SwissProt for SWAP70 Gene

Q9UH65-SWP70_HUMAN
Tissue specificity: Expressed only in mature B-cells including those associated with mucosa-associated tissue and bronchus-associated tissue (PubMed:10681448). Widely expressed. Abundant in spleen, and fairly abundant in kidney, lung and liver. Also found in monocytes and macrophages (PubMed:12925760).
genes like me logo Genes that share expression patterns with SWAP70: view

Protein tissue co-expression partners for SWAP70 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for SWAP70 Gene

Orthologs for SWAP70 Gene

This gene was present in the common ancestor of animals.

Orthologs for SWAP70 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SWAP70 35
  • 90.83 (n)
  • 95.38 (a)
HSPC321 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SWAP70 35
  • 93.05 (n)
  • 96.07 (a)
SWAP70 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Swap70 35
  • 89.52 (n)
  • 95.04 (a)
Swap70 16
Swap70 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SWAP70 35
  • 98.58 (n)
  • 98.29 (a)
SWAP70 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Swap70 35
  • 89.34 (n)
  • 95.04 (a)
oppossum
(Monodelphis domestica)
Mammalia SWAP70 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SWAP70 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves SWAP70 35
  • 79.68 (n)
  • 86.3 (a)
SWAP70 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SWAP70 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.4841 35
swap70 35
  • 70.57 (n)
  • 73.15 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13764 35
zebrafish
(Danio rerio)
Actinopterygii swap70b 35
  • 72.16 (n)
  • 76.8 (a)
zgc63599 35
swap70a 36
  • 61 (a)
OneToMany
swap70b 36
  • 76 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6982 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012332 35
  • 45.6 (n)
  • 34.3 (a)
Species with no ortholog for SWAP70:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SWAP70 Gene

ENSEMBL:
Gene Tree for SWAP70 (if available)
TreeFam:
Gene Tree for SWAP70 (if available)

Paralogs for SWAP70 Gene

Paralogs for SWAP70 Gene

(3) SIMAP similar genes for SWAP70 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with SWAP70: view

Variants for SWAP70 Gene

Sequence variations from dbSNP and Humsavar for SWAP70 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs415895 - 9,748,015(-) AAGCT(C/G)CTCCA reference, missense
rs397686 - 9,728,098(-) CCATC(A/C/G/T)TTCAG reference, synonymous-codon
rs93138 -- 9,738,166(-) AGTAG(A/C)AGTAC intron-variant
rs93139 -- 9,738,061(-) TTAGA(A/G)TTCCA intron-variant
rs173396 -- 9,738,371(-) CCCAC(C/T)GACCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SWAP70 Gene

Variant ID Type Subtype PubMed ID
nsv7215 OTHER Inversion 18451855
nsv499766 OTHER Inversion 21111241
esv2744095 CNV Deletion 23290073
esv27859 CNV Loss 19812545
esv1146451 CNV Deletion 17803354
esv2744096 CNV Deletion 23290073
esv2532017 CNV Insertion 19546169
esv271180 CNV Insertion 20981092
nsv896987 CNV Gain 21882294
nsv527910 CNV Loss 19592680

Variation tolerance for SWAP70 Gene

Residual Variation Intolerance Score: 14.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.86; 18.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SWAP70 Gene

HapMap Linkage Disequilibrium report
SWAP70

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SWAP70 Gene

Disorders for SWAP70 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SWAP70 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
common variable immunodeficiency
  • acquired agammaglobulinemia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SWAP70

Genetic Association Database (GAD)
SWAP70
Human Genome Epidemiology (HuGE) Navigator
SWAP70
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SWAP70
genes like me logo Genes that share disorders with SWAP70: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SWAP70 Gene

Publications for SWAP70 Gene

  1. Association of SWAP-70 with the B cell antigen receptor complex. (PMID: 10681448) Masat L. … Ferrick D. (Proc. Natl. Acad. Sci. U.S.A. 2000) 2 3 4 23 67
  2. Expression and localization of SWAP-70 in human fetomaternal interface and placenta during tubal pregnancy and normal placentation. (PMID: 17371938) Liu J. … Wang Y.L. (J. Histochem. Cytochem. 2007) 3 23
  3. Diagnostic surface expression of SWAP-70 on HIV-1 infected T cells. (PMID: 16547421) Kimbara N. … Okada N. (Microbiol. Immunol. 2006) 3 23
  4. SWAP-70 identifies a transitional subset of actin filaments in motile cells. (PMID: 12925760) Hilpelae P. … Baehler M. (Mol. Biol. Cell 2003) 3 23
  5. Analysis of SWAP-70 as a candidate gene for non-X-linked hyper IgM syndrome and common variable immunodeficiency. (PMID: 11726218) Rapalus L. … Conley M.E. (Clin. Immunol. 2001) 3 23

Products for SWAP70 Gene

Sources for SWAP70 Gene

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