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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 Endocytosis and Arf6 trafficking events. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for ASAP2 Gene

Promoters and enhancers for ASAP2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J009205 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 656 +0.7 697 4.1 ATF1 ARNT ARID4B SIN3A DMAP1 ZNF48 ZNF766 GLIS2 ZNF213 ZNF143 ASAP2 LOC100506317 GC02M009211
GH02J009284 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 24.7 +80.7 80670 5.4 PKNOX1 SIN3A ZBTB40 RAD21 FOS EGR2 USF2 CEBPB REST SP1 ASAP2 YWHAQ ITGB1BP1 EIF1P7 GC02M009313
GH02J009334 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 19.5 +129.6 129596 3.1 FOXA2 MLX ARID4B FEZF1 DMAP1 YY1 SLC30A9 ZNF213 SP5 NFYC ASAP2 ADAM17 KIDINS220 GC02M009313 CPSF3
GH02J009380 Enhancer 1.3 Ensembl ENCODE dbSUPER 21 +174.3 174332 1.9 FOXA2 MLX ARID4B SIN3A ZNF48 FOS NFKBIZ SP5 MIER2 SMARCB1 ASAP2 CPSF3 GC02M009313
GH02J009233 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 15.3 +29.4 29436 7.8 FOXA2 ARID4B SIN3A DMAP1 FOS SP5 ZHX2 REST KAT8 SSRP1 ASAP2 ADAM17 ITGB1BP1 YWHAQ GC02M009211
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ASAP2 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for ASAP2 Gene

Genomic Locations for ASAP2 Gene
198,919 bases
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 StructureGene Density

RefSeq DNA sequence for ASAP2 Gene

Proteins for ASAP2 Gene

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

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

    Protein attributes for ASAP2 Gene

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

    Alternative splice isoforms for ASAP2 Gene


neXtProt entry for ASAP2 Gene

Post-translational modifications for ASAP2 Gene

Antibody Products

  • Boster Bio Antibodies for ASAP2
  • Santa Cruz Biotechnology (SCBT) Antibodies for ASAP2

No data available for DME Specific Peptides for ASAP2 Gene

Domains & Families for ASAP2 Gene

Suggested Antigen Peptide Sequences for ASAP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • 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.
  • 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

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.

Phenotypes From GWAS Catalog for ASAP2 Gene

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:0031267 small GTPase binding IBA --
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

Clone 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

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

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ASAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA,IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol IBA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA,IBA --
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:0016192 vesicle-mediated transport IBA --
GO:0032012 regulation of ARF protein signal transduction IBA --
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

(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

Unigene Clusters for ASAP2 Gene

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

Clone 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: - - -

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

Relevant External Links for ASAP2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ASAP2 Gene

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

NURSA nuclear receptor signaling pathways regulating expression of ASAP2 Gene:


SOURCE GeneReport for Unigene cluster for ASAP2 Gene:


mRNA Expression by UniProt/SwissProt for ASAP2 Gene:

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

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
(Pan troglodytes)
Mammalia ASAP2 34 33
  • 98.47 (n)
(Monodelphis domestica)
Mammalia ASAP2 34
  • 91 (a)
(Canis familiaris)
Mammalia ASAP2 34 33
  • 89.66 (n)
(Ornithorhynchus anatinus)
Mammalia ASAP2 34
  • 89 (a)
(Mus musculus)
Mammalia Asap2 16 34 33
  • 87.5 (n)
(Rattus norvegicus)
Mammalia Asap2 33
  • 87.47 (n)
(Bos Taurus)
Mammalia ASAP2 34 33
  • 86.22 (n)
(Gallus gallus)
Aves ASAP2 34 33
  • 78.6 (n)
(Anolis carolinensis)
Reptilia ASAP2 34
  • 85 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia asap2 33
  • 73.45 (n)
(Danio rerio)
Actinopterygii asap2a 34 33
  • 70.34 (n)
Dr.23932 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6254 33
fruit fly
(Drosophila melanogaster)
Insecta Asap1 34
  • 38 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5006 34
  • 41 (a)
Cin.2625 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2625 33
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

Gene Tree for ASAP2 (if available)
Gene Tree for ASAP2 (if available)
Evolutionary constrained regions (ECRs) for ASAP2: view image

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 Variation AA Info Type
rs1000006804 -- 9,301,199(+) C/T intron_variant
rs1000013740 -- 9,213,891(+) G/C genic_upstream_transcript_variant, intron_variant
rs1000033763 -- 9,294,720(+) G/A intron_variant
rs1000038808 -- 9,268,537(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000047632 -- 9,387,716(+) G/A 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)

Additional Variant Information for ASAP2 Gene

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

SNP Genotyping and Copy Number Assay Products

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: HGMD and DISEASES

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

Additional Disease Information for ASAP2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Molecular and cellular biology 1999) 2 3 4 22 58
  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 (Molecular biology of the cell 2000) 3 4 22 58
  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 research : an international journal for rapid publication of reports on genes and genomes 1997) 2 3 4 58
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for ASAP2 Gene

Sources for ASAP2 Gene

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