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ASAP2 Gene(Protein Coding)

ArfGAP With SH3 Domain, Ankyrin Repeat And PH Domain 2

GCID:
GC02P009193
GIFtS:
53
Genes Participants
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Aliases for ASAP2 Gene

Aliases for ASAP2 Gene

  • ArfGAP With SH3 Domain, Ankyrin Repeat And PH Domain 2 2 3 5
  • Paxillin-Associated Protein With ARF GAP Activity 3 3 4
  • Development And Differentiation-Enhancing Factor 2 3 4
  • Pyk2 C-Terminus-Associated Protein 3 4
  • Centaurin, Beta 3 2 3
  • DDEF2 3 4
  • PAG3 3 4
  • PAP 3 4
  • Arf-GAP With SH3 Domain, ANK Repeat And PH Domain-Containing Protein 2 3
  • Development And Differentiation Enhancing Factor 2 2
  • PYK2 C Terminus-Associated Protein 3
  • Pap-Alpha 3
  • KIAA0400 4
  • CENTB3 3
  • AMAP2 3
  • SHAG1 3

External Ids for ASAP2 Gene

Previous HGNC Symbols for ASAP2 Gene

  • DDEF2

Previous GeneCards Identifiers for ASAP2 Gene

  • GC02P009264
  • GC02P009346

Summaries for ASAP2 Gene

Entrez Gene Summary for ASAP2 Gene

  • This gene encodes a multidomain protein containing an N-terminal alpha-helical region with a coiled-coil motif, followed by a pleckstrin homology (PH) domain, an Arf-GAP domain, an ankyrin homology region, a proline-rich region, and a C-terminal Src homology 3 (SH3) domain. The protein localizes in the Golgi apparatus and at the plasma membrane, where it colocalizes with protein tyrosine kinase 2-beta (PYK2). The encoded protein forms a stable complex with PYK2 in vivo. This interaction appears to be mediated by binding of its SH3 domain to the C-terminal proline-rich domain of PYK2. The encoded protein is tyrosine phosphorylated by activated PYK2. It has catalytic activity for class I and II ArfGAPs in vitro, and can bind the class III Arf ARF6 without immediate GAP activity. The encoded protein is believed to function as an ARF GAP that controls ARF-mediated vesicle budding when recruited to Golgi membranes. In addition, it functions as a substrate and downstream target for PYK2 and SRC, a pathway that may be involved in the regulation of vesicular transport. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]

GeneCards Summary for ASAP2 Gene

ASAP2 (ArfGAP With SH3 Domain, Ankyrin Repeat And PH Domain 2) is a Protein Coding gene. Diseases associated with ASAP2 include Cri-Du-Chat Syndrome. Among its related pathways are Fc gamma R-mediated phagocytosis and Arf6 trafficking events. GO annotations related to this gene include GTPase activator activity and enzyme activator activity. An important paralog of this gene is ASAP1.

UniProtKB/Swiss-Prot for ASAP2 Gene

  • Activates the small GTPases ARF1, ARF5 and ARF6. Regulates the formation of post-Golgi vesicles and modulates constitutive secretion. Modulates phagocytosis mediated by Fc gamma receptor and ARF6. Modulates PXN recruitment to focal contacts and cell migration.

Gene Wiki entry for ASAP2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASAP2 Gene

Genomics for ASAP2 Gene

Products:

  1. Regulatory Element

Regulatory Elements for ASAP2 Gene

Enhancers for ASAP2 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
GH02G009284 1.7 FANTOM5 Ensembl ENCODE dbSUPER 24.7 +80.7 80670 5.4 TBP PKNOX1 SIN3A ZBTB40 RAD21 GATA2 SCRT2 FOS EGR2 USF2 ASAP2 YWHAQ ITGB1BP1 EIF1P7 GC02M009313
GH02G009334 1.9 FANTOM5 Ensembl ENCODE dbSUPER 19.4 +129.6 129596 3.1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 ZNF143 FOS ASAP2 ADAM17 KIDINS220 GC02M009313 CPSF3
GH02G009380 1.4 Ensembl ENCODE dbSUPER 21 +174.3 174333 1.9 ELF3 FOXA2 MLX ARID4B SIN3A RAD21 ZNF48 RARA GATA4 FOS ASAP2 CPSF3 GC02M009313
GH02G009233 1.9 FANTOM5 Ensembl ENCODE dbSUPER 15.3 +29.4 29437 7.8 FOXA2 ARID4B SIN3A DMAP1 FOS SP5 ZHX2 JUNB REST KAT8 ASAP2 ADAM17 ITGB1BP1 YWHAQ GC02M009211
GH02G009167 1.5 Ensembl ENCODE dbSUPER 18 -38.4 -38448 2.1 PKNOX1 FOXA2 MLX CREB3L1 ZFP64 ARID4B SIN3A ZNF48 SLC30A9 ELK1 ASAP2 ITGB1BP1 CPSF3 ADAM17 LOC105373417 LOC100506317
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ASAP2 on UCSC Golden Path with GeneCards custom track

Promoters for ASAP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000112541 735 2601 ATF1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF48 YY1 ZNF766 GLIS2

Transcription factor binding sites by QIAGEN in the ASAP2 gene promoter:

Genomic Location for ASAP2 Gene

Chromosome:
2
Start:
9,206,765 bp from pter
End:
9,405,683 bp from pter
Size:
198,919 bases
Orientation:
Plus strand

Genomic View for ASAP2 Gene

Genes around ASAP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASAP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASAP2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ASAP2 Gene

Proteins for ASAP2 Gene

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  1. Antibody
  2. Protein
  3. Assay

  • Protein details for ASAP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43150-ASAP2_HUMAN
    Recommended name:
    Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2
    Protein Accession:
    O43150
    Secondary Accessions:
    • D6W4Y8

    Protein attributes for ASAP2 Gene

    Size:
    1006 amino acids
    Molecular mass:
    111651 Da
    Quaternary structure:
    • Binds PXN, ARF1, ARF5, ARF6, PTK2B and SRC.
    SequenceCaution:
    • Sequence=BAA23696.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ASAP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASAP2 Gene

Protein Expression for ASAP2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ASAP2 Gene

Other Protein References for ASAP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ASAP2 Gene

Domains & Families for ASAP2 Gene

Gene Families for ASAP2 Gene

HGNC:

Protein Domains for ASAP2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ASAP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O43150

UniProtKB/Swiss-Prot:

ASAP2_HUMAN :
  • The conserved Arg-464 in the Arf-GAP domain probably becomes part of the active site of bound small GTPases and is necessary for GTP hydrolysis.
Domain:
  • The conserved Arg-464 in the Arf-GAP domain probably becomes part of the active site of bound small GTPases and is necessary for GTP hydrolysis.
genes like me logo Genes that share domains with ASAP2: view

Function for ASAP2 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for ASAP2 Gene

UniProtKB/Swiss-Prot Function:
Activates the small GTPases ARF1, ARF5 and ARF6. Regulates the formation of post-Golgi vesicles and modulates constitutive secretion. Modulates phagocytosis mediated by Fc gamma receptor and ARF6. Modulates PXN recruitment to focal contacts and cell migration.
UniProtKB/Swiss-Prot Induction:
Up-regulated during monocytic maturation.

Gene Ontology (GO) - Molecular Function for ASAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA --
GO:0005515 protein binding IPI 11716503
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ASAP2: view
genes like me logo Genes that share phenotypes with ASAP2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ASAP2 Gene

Localization for ASAP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASAP2 Gene

Cytoplasm. Golgi apparatus, Golgi stack membrane; Peripheral membrane protein. Cell membrane; Peripheral membrane protein. Note=Colocalizes with F-actin and ARF6 in phagocytic cups.

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 ASAP2 gene
Compartment Confidence
plasma membrane 5
golgi apparatus 5
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for ASAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0032580 Golgi cisterna membrane IEA --
genes like me logo Genes that share ontologies with ASAP2: view

Pathways & Interactions for ASAP2 Gene

genes like me logo Genes that share pathways with ASAP2: view

Pathways by source for ASAP2 Gene

1 BioSystems pathway for ASAP2 Gene
2 KEGG pathways for ASAP2 Gene

Gene Ontology (GO) - Biological Process for ASAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043085 positive regulation of catalytic activity IEA --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with ASAP2: view

No data available for SIGNOR curated interactions for ASAP2 Gene

Drugs & Compounds for ASAP2 Gene

Products:

  1. Drug

(1) Drugs for ASAP2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with ASAP2: view

Transcripts for ASAP2 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
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mRNA/cDNA for ASAP2 Gene

(12) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(186) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ASAP2 Gene

ArfGAP with SH3 domain, ankyrin repeat and PH domain 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ASAP2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: - -
SP2: - - -
SP3:
SP4:

ExUns: 24 ^ 25a · 25b ^ 26 ^ 27 ^ 28
SP1: -
SP2: -
SP3:
SP4:

Relevant External Links for ASAP2 Gene

GeneLoc Exon Structure for
ASAP2
ECgene alternative splicing isoforms for
ASAP2

Expression for ASAP2 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ASAP2 Gene

mRNA expression in normal human tissues for ASAP2 Gene
mRNA expression by BioGPS for ASAP2 GenemRNA expression by GTEx for ASAP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ASAP2 Gene

This gene is overexpressed in Bone (31.3), Peripheral blood mononuclear cells (20.0), and Platelet (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ASAP2 Gene



NURSA nuclear receptor signaling pathways regulating expression of ASAP2 Gene:

ASAP2

SOURCE GeneReport for Unigene cluster for ASAP2 Gene:

Hs.555902

mRNA Expression by UniProt/SwissProt for ASAP2 Gene:

O43150-ASAP2_HUMAN
Tissue specificity: Detected in heart, brain, placenta, kidney, monocytes and pancreas.

Evidence on tissue expression from TISSUES for ASAP2 Gene

  • Nervous system(4.7)
  • Blood(4.4)
  • Lung(3.6)
  • Stomach(2.9)
genes like me logo Genes that share expression patterns with ASAP2: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ASAP2 Gene

Orthologs for ASAP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ASAP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia ASAP2 34 35
  • 98.47 (n)
oppossum
(Monodelphis domestica)
 Mammalia ASAP2 35
  • 91 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia ASAP2 34 35
  • 89.66 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia ASAP2 35
  • 89 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Asap2 34 16 35
  • 87.5 (n)
rat
(Rattus norvegicus)
 Mammalia Asap2 34
  • 87.47 (n)
cow
(Bos Taurus)
 Mammalia ASAP2 34 35
  • 86.22 (n)
chicken
(Gallus gallus)
 Aves ASAP2 34 35
  • 78.6 (n)
lizard
(Anolis carolinensis)
 Reptilia ASAP2 35
  • 85 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia asap2 34
  • 73.45 (n)
zebrafish
(Danio rerio)
 Actinopterygii asap2a 34 35
  • 70.34 (n)
Dr.23932 34
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.6254 34
fruit fly
(Drosophila melanogaster)
 Insecta Asap1 35
  • 38 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.5006 35
  • 41 (a)
 OneToMany
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.2625 34
Species where no ortholog for ASAP2 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)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 ASAP2 Gene

ENSEMBL:
Gene Tree for ASAP2 (if available)
TreeFam:
Gene Tree for ASAP2 (if available)

Paralogs for ASAP2 Gene

Paralogs for ASAP2 Gene

(4) SIMAP similar genes for ASAP2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ASAP2: view

Variants for ASAP2 Gene

Sequence variations from dbSNP and Humsavar for ASAP2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000006804 -- 9,301,199(+) TGCTA(C/T)CTCTT intron-variant
rs1000013740 -- 9,213,891(+) CTTGT(C/G)TTGGG intron-variant, nc-transcript-variant
rs1000033763 -- 9,294,720(+) CTCTT(A/G)GTTTG intron-variant
rs1000038808 -- 9,268,537(+) ACAGT(A/G)CAAGT intron-variant
rs1000047632 -- 9,387,716(+) AACCT(A/G)TAATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ASAP2 Gene

Variant ID Type Subtype PubMed ID
dgv6683n54 CNV loss 21841781
dgv6684n54 CNV gain 21841781
esv2478125 CNV deletion 19546169
esv25422 CNV loss 19812545
esv2604725 CNV insertion 19546169
esv2662547 CNV deletion 23128226
esv29614 CNV gain 19812545
esv3308700 CNV mobile element insertion 20981092
esv3355764 CNV insertion 20981092
esv3392594 CNV duplication 20981092
esv3552245 CNV deletion 23714750
esv3589765 CNV gain 21293372
esv3589771 CNV loss 21293372
nsv1072919 CNV deletion 25765185
nsv1114049 CNV deletion 24896259
nsv1123293 CNV deletion 24896259
nsv1123294 CNV deletion 24896259
nsv1125684 CNV tandem duplication 24896259
nsv1134828 CNV deletion 24896259
nsv2601 CNV insertion 18451855
nsv580915 CNV gain 21841781
nsv580916 CNV loss 21841781
nsv580919 CNV gain+loss 21841781
nsv580921 CNV gain 21841781
nsv580924 CNV loss 21841781
nsv580925 CNV loss 21841781
nsv961379 CNV duplication 23825009

Variation tolerance for ASAP2 Gene

Residual Variation Intolerance Score: 2.86% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.23; 94.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ASAP2 Gene

Human Gene Mutation Database (HGMD)
ASAP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASAP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASAP2 Gene

Disorders for ASAP2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ASAP2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cri-du-chat syndrome
  • 5p deletion syndrome
- elite association - COSMIC cancer census association via MalaCards
Search ASAP2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ASAP2

Genetic Association Database (GAD)
ASAP2
Human Genome Epidemiology (HuGE) Navigator
ASAP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ASAP2
genes like me logo Genes that share disorders with ASAP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ASAP2 Gene

Publications for ASAP2 Gene

  1. Identification of a new Pyk2 target protein with Arf-GAP activity. (PMID: 10022920) Andreev J. … Schlessinger J. (Mol. Cell. Biol. 1999) 2 3 4 22 64
  2. A new paxillin-binding protein, PAG3/Papalpha/KIAA0400, bearing an ADP-ribosylation factor GTPase-activating protein activity, is involved in paxillin recruitment to focal adhesions and cell migration. (PMID: 10749932) Kondo A. … Sabe H. (Mol. Biol. Cell 2000) 3 4 22 64
  3. Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9455477) Ishikawa K. … Ohara O. (DNA Res. 1997) 2 3 4 64
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  5. A novel mode of action of an ArfGAP, AMAP2/PAG3/Papa lpha, in Arf6 function. (PMID: 15231847) Hashimoto S. … Sabe H. (J. Biol. Chem. 2004) 3 22 64

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