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Aliases for SWAP70 Gene

Aliases for SWAP70 Gene

  • SWAP Switching B-Cell Complex Subunit 70 2 3
  • SWAP Switching B-Cell Complex 70kDa Subunit 2 3 5
  • Switch-Associated Protein 70 2 3
  • 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 Subunit 70) is a Protein Coding gene. Diseases associated with SWAP70 include Common Variable Immunodeficiency. Among its related pathways are NF-kappaB Signaling. 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

Enhancers for SWAP70 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F009611 1.8 FANTOM5 Ensembl ENCODE 24.8 -48.0 -48004 8.5 ARNT CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 SWAP70 WEE1 ZNF143 RPL21P97 AKIP1 ENSG00000238387 SNORA3B DENND5A GC11M009608 GC11M009621
GH11F009565 1.6 FANTOM5 ENCODE 19.8 -91.8 -91830 15.2 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF263 SP3 NFYC WEE1 SWAP70 ZNF143 RPL21P97 AKIP1 SNORA3B TMEM41B DENND5A PIR40365
GH11F009751 1.8 FANTOM5 Ensembl ENCODE 17.4 +95.7 95692 15.9 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 SBF2 SWAP70 TMEM9B-AS1 ENSG00000254397 RPL21P97 SBF2-AS1 ENSG00000238387 WEE1 CTR9 NRIP3
GH11F009686 1.4 FANTOM5 Ensembl ENCODE 21.4 +26.4 26414 8.0 HDGF PKNOX1 TBL1XR1 WRNIP1 JUN MAX CBX5 POLR2A EED ZNF143 SWAP70 RPL21P97 ENSG00000238387 WEE1 SBF2-AS1 LOC105376544 RN7SKP50 GC11P009745
GH11F009737 1.6 FANTOM5 Ensembl ENCODE 18.7 +75.6 75572 3.8 SIN3A GLI4 FEZF1 GLIS2 FOS SP3 YY2 JUNB ZNF488 TSHZ1 SWAP70 ENSG00000254397 RPL21P97 WEE1 ENSG00000238387 TMEM9B-AS1 SBF2 GC11P009745 RN7SKP50
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SWAP70 on UCSC Golden Path with GeneCards custom track

Promoters for SWAP70 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000558174 523 2801 SIN3A ZNF48 RAD21 RFX5 GLIS2 SMARCC1 ZNF280D SP3 CEBPB USF2

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

Post-translational modifications for SWAP70 Gene

Other Protein References for SWAP70 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SWAP70 (SWAP-70)
  • Abcam antibodies for SWAP70

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).

Gene Ontology (GO) - Molecular Function for SWAP70 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 25416956
GO:0005524 ATP binding IEA --
GO:0098641 cadherin binding involved in cell-cell adhesion IDA 25468996
genes like me logo Genes that share ontologies with SWAP70: view
genes like me logo Genes that share phenotypes with SWAP70: view

Animal Models for SWAP70 Gene

MGI Knock Outs for SWAP70:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
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 SWAP70 gene
Compartment Confidence
plasma membrane 4
cytoskeleton 4
nucleus 4
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SWAP70 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IDA 25468996
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA --
GO:0005913 cell-cell adherens junction IDA 25468996
genes like me logo Genes that share ontologies with SWAP70: view

Pathways & Interactions for SWAP70 Gene

SuperPathways for SWAP70 Gene

SuperPathway Contained pathways
1 NF-kappaB Signaling
genes like me logo Genes that share pathways with SWAP70: view

Pathways by source for SWAP70 Gene

1 Cell Signaling Technology pathway for SWAP70 Gene

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:0016444 somatic cell DNA recombination IEA --
GO:0030835 negative regulation of actin filament depolymerization IEA --
GO:0032233 positive regulation of actin filament bundle assembly IEA --
genes like me logo Genes that share ontologies with SWAP70: view

No data available for 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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for SWAP70 Gene



Protein tissue co-expression partners for SWAP70 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SWAP70 Gene:

SWAP70

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

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
chimpanzee
(Pan troglodytes)
Mammalia SWAP70 34 35
  • 98.58 (n)
cow
(Bos Taurus)
Mammalia HSPC321 35
  • 95 (a)
OneToOne
SWAP70 34
  • 90.83 (n)
dog
(Canis familiaris)
Mammalia SWAP70 34 35
  • 93.05 (n)
oppossum
(Monodelphis domestica)
Mammalia SWAP70 35
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SWAP70 35
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Swap70 34 16 35
  • 89.52 (n)
rat
(Rattus norvegicus)
Mammalia Swap70 34
  • 89.34 (n)
chicken
(Gallus gallus)
Aves SWAP70 34 35
  • 79.68 (n)
lizard
(Anolis carolinensis)
Reptilia SWAP70 35
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia swap70 34
  • 70.57 (n)
Str.4841 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.13764 34
zebrafish
(Danio rerio)
Actinopterygii swap70b 34 35
  • 72.16 (n)
swap70a 35
  • 61 (a)
OneToMany
zgc63599 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6982 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012332 34
  • 45.6 (n)
Species where no ortholog for SWAP70 was found in the sources mined by GeneCards:
  • 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
rs10219178 -- 9,678,527(+) TAACA(C/T)GTAAA intron-variant
rs10219180 -- 9,678,535(+) AAACT(C/G)TGAGG intron-variant
rs10527675 -- 9,686,374(+) TATTT(-/ATTT/ATTTATTT/ATTTATTTA/ATTTATTTATTTATTT)TTGTG intron-variant
rs10533145 -- 9,738,707(+) AAAAA(-/AA)GAATT intron-variant
rs1056593 -- 9,751,293(+) AATAC(A/G)TCTAA utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv7215 OTHER inversion 18451855
nsv553474 CNV gain 21841781
nsv553473 CNV loss 21841781
nsv553468 CNV gain 21841781
nsv527910 CNV loss 19592680
nsv499766 OTHER inversion 21111241
nsv1139544 CNV duplication 24896259
nsv1116669 CNV tandem duplication 24896259
nsv1110888 OTHER inversion 24896259
nsv1076375 CNV duplication 25765185
nsv1069563 CNV deletion 25765185
nsv1053369 CNV gain 25217958
nsv1045550 CNV gain 25217958
esv3354480 CNV insertion 20981092
esv3306904 CNV mobile element insertion 20981092
esv27859 CNV loss 19812545
esv2744096 CNV deletion 23290073
esv2744095 CNV deletion 23290073
esv2532017 CNV insertion 19546169
esv1146451 CNV deletion 17803354
dgv582e59 CNV duplication 20981092
dgv1644n54 CNV gain 21841781
dgv1643n54 CNV loss 21841781

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 22 64
  2. SWAP-70 identifies a transitional subset of actin filaments in motile cells. (PMID: 12925760) Hilpelae P. … Baehler M. (Mol. Biol. Cell 2003) 3 4 22 64
  3. 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 4 22 64
  4. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K. … Ohara O. (DNA Res. 1998) 2 3 4 64
  5. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F. … Nebel A. (Mutat. Res. 2010) 3 46 64

Products for SWAP70 Gene

Sources for SWAP70 Gene

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