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Aliases for ADAP2 Gene

Aliases for ADAP2 Gene

  • ArfGAP With Dual PH Domains 2 2 3 5
  • CENTA2 3 4
  • Arf-GAP With Dual PH Domain-Containing Protein 2 3
  • Centaurin-Alpha 2 Protein 3
  • Centaurin, Alpha 2 2
  • Centaurin-Alpha-2 4
  • Centaurin Beta 3
  • HSA272195 3
  • Cent-B 3
  • Cnt-A2 4

External Ids for ADAP2 Gene

Previous HGNC Symbols for ADAP2 Gene

  • CENTA2

Previous GeneCards Identifiers for ADAP2 Gene

  • GC17P026272
  • GC17P029248
  • GC17P025459

Summaries for ADAP2 Gene

Entrez Gene Summary for ADAP2 Gene

  • The protein encoded by this gene binds beta-tubulin and increases the stability of microtubules. The encoded protein can also translocate to the cell membrane and bind phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and inositol 1,3,4,5-tetrakisphosphate (InsP4). In addition, this protein is a GTPase-activating protein for ADP ribosylation factor 6 and may be able to block the entry of some RNA viruses. [provided by RefSeq, Oct 2016]

GeneCards Summary for ADAP2 Gene

ADAP2 (ArfGAP With Dual PH Domains 2) is a Protein Coding gene. Diseases associated with ADAP2 include Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb. Among its related pathways are B Cell Receptor Signaling Pathway (sino). Gene Ontology (GO) annotations related to this gene include GTPase activator activity and phosphatidylinositol-4,5-bisphosphate binding. An important paralog of this gene is ADAP1.

UniProtKB/Swiss-Prot for ADAP2 Gene

  • GTPase-activating protein for the ADP ribosylation factor family (Potential). Binds phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and inositol 1,3,4,5-tetrakisphosphate (InsP4). Possesses a stoichiometry of two binding sites for InsP4 with identical affinity.

Gene Wiki entry for ADAP2 Gene

Additional gene information for ADAP2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADAP2 Gene

Genomics for ADAP2 Gene

GeneHancer (GH) Regulatory Elements for ADAP2 Gene

Promoters and enhancers for ADAP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J030905 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 +0.1 133 2.2 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 TEFM ADAP2 GC17P030905 GC17P030907 UTP6 SUZ12P1 ATAD5 GOSR1 NF1 ENSG00000264456
GH17J030921 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 650.4 +15.9 15857 1.2 SP3 L3MBTL2 SP2 SIN3A KLF14 ZNF335 ZNF366 POLR2A ZFP36 ZFX ADAP2 LOC101927093 GC17P030931 GC17P030907
GH17J030949 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 2.4 +46.4 46448 6 ELF3 FOXA2 ARID4B RAD21 RARA ETS1 YY1 RCOR1 MIXL1 RXRA RNF135 LRRC37BP1 ADAP2 EVI2A CRLF3 ENSG00000230113 GC17P030931
GH17J031306 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 1.2 +404.5 404477 9.5 HDGF PKNOX1 ARNT YY1 TCF12 ZNF766 ARID2 FOS RUNX3 JUNB EVI2B EVI2A OMG RAB11FIP4 CRLF3 ADAP2 ENSG00000265118 NF1
GH17J030956 Enhancer 1 Ensembl ENCODE dbSUPER 0.2 +51.2 51157 3 HDAC1 TEAD1 TEAD4 NRF1 TEAD2 CEBPB CBFA2T3 CEBPG NR2F2 TEAD3 RNF135 ENSG00000230113 ENSG00000264456 LRRC37BP1 ADAP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ADAP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ADAP2 gene promoter:

Genomic Locations for ADAP2 Gene

Genomic Locations for ADAP2 Gene
chr17:30,906,344-30,959,398
(GRCh38/hg38)
Size:
53,055 bases
Orientation:
Plus strand
chr17:29,233,362-29,286,340
(GRCh37/hg19)

Genomic View for ADAP2 Gene

Genes around ADAP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADAP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADAP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADAP2 Gene

Proteins for ADAP2 Gene

  • Protein details for ADAP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NPF8-ADAP2_HUMAN
    Recommended name:
    Arf-GAP with dual PH domain-containing protein 2
    Protein Accession:
    Q9NPF8
    Secondary Accessions:
    • Q8N4Q6
    • Q96SD5

    Protein attributes for ADAP2 Gene

    Size:
    381 amino acids
    Molecular mass:
    44349 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ADAP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADAP2 Gene

Post-translational modifications for ADAP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ADAP2 Gene

Domains & Families for ADAP2 Gene

Gene Families for ADAP2 Gene

Suggested Antigen Peptide Sequences for ADAP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ADAP2: view

No data available for UniProtKB/Swiss-Prot for ADAP2 Gene

Function for ADAP2 Gene

Molecular function for ADAP2 Gene

UniProtKB/Swiss-Prot Function:
GTPase-activating protein for the ADP ribosylation factor family (Potential). Binds phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and inositol 1,3,4,5-tetrakisphosphate (InsP4). Possesses a stoichiometry of two binding sites for InsP4 with identical affinity.

Phenotypes From GWAS Catalog for ADAP2 Gene

Gene Ontology (GO) - Molecular Function for ADAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA --
GO:0005515 protein binding IPI 20098747
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding ISS 12018390
GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding IDA 14690521
GO:0030674 protein binding, bridging NAS 14690521
genes like me logo Genes that share ontologies with ADAP2: view
genes like me logo Genes that share phenotypes with ADAP2: 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 ADAP2 Gene

Localization for ADAP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADAP2 Gene

Cytoplasm. Cell membrane. Note=Constitutively associated with the plasma membrane. Excluded from the nucleus.

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 ADAP2 gene
Compartment Confidence
plasma membrane 5
mitochondrion 4
cytosol 3
nucleus 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ADAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 14690521
GO:0005740 mitochondrial envelope ISS 12018390
GO:0005829 cytosol IBA --
GO:0005886 plasma membrane IDA,IEA 14690521
GO:0016020 membrane IBA,IEA --
genes like me logo Genes that share ontologies with ADAP2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ADAP2 Gene

Pathways & Interactions for ADAP2 Gene

genes like me logo Genes that share pathways with ADAP2: view

Pathways by source for ADAP2 Gene

1 Sino Biological pathway for ADAP2 Gene

Gene Ontology (GO) - Biological Process for ADAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007507 heart development IEP 16138909
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 ADAP2: view

No data available for SIGNOR curated interactions for ADAP2 Gene

Drugs & Compounds for ADAP2 Gene

No Compound Related Data Available

Transcripts for ADAP2 Gene

Unigene Clusters for ADAP2 Gene

ArfGAP with dual PH domains 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADAP2 Gene

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

Relevant External Links for ADAP2 Gene

GeneLoc Exon Structure for
ADAP2
ECgene alternative splicing isoforms for
ADAP2

Expression for ADAP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ADAP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ADAP2 Gene

This gene is overexpressed in Whole Blood (x5.5) and Spleen (x4.3).

Protein differential expression in normal tissues from HIPED for ADAP2 Gene

This gene is overexpressed in Spleen (39.1) and Placenta (29.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ADAP2 Gene



Protein tissue co-expression partners for ADAP2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ADAP2 Gene:

ADAP2

SOURCE GeneReport for Unigene cluster for ADAP2 Gene:

Hs.514063

mRNA Expression by UniProt/SwissProt for ADAP2 Gene:

Q9NPF8-ADAP2_HUMAN
Tissue specificity: Highly expressed in placenta, spleen, kidney, skeletal muscle and adrenal gland. Weakly expressed in thyroid, liver, heart, lung, small intestine, peripheral blood leukocytes. Not detected in spinal cord, brain, stomach, trachea, colon, lymph node and bone marrow.

Evidence on tissue expression from TISSUES for ADAP2 Gene

  • Blood(4.1)
genes like me logo Genes that share expression patterns with ADAP2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ADAP2 Gene

Orthologs for ADAP2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ADAP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADAP2 34 33
  • 99.56 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ADAP2 34 33
  • 89.5 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ADAP2 34 33
  • 88.01 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Adap2 16 34 33
  • 86.65 (n)
rat
(Rattus norvegicus)
Mammalia Adap2 33
  • 86.52 (n)
oppossum
(Monodelphis domestica)
Mammalia ADAP2 34
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ADAP2 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADAP2 34 33
  • 68.89 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADAP2 34
  • 56 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii si:ch73-33i10.5 33
  • 60.74 (n)
ADAP2 34
  • 58 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8243 34
  • 14 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea W09D10.1 34
  • 15 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AGE2 34
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8094 34
  • 40 (a)
OneToMany
Species where no ortholog for ADAP2 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)
  • 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ADAP2 Gene

ENSEMBL:
Gene Tree for ADAP2 (if available)
TreeFam:
Gene Tree for ADAP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ADAP2: view image

Paralogs for ADAP2 Gene

Paralogs for ADAP2 Gene

(8) SIMAP similar genes for ADAP2 Gene using alignment to 7 proteins:

  • ADAP2_HUMAN
  • J3KST1_HUMAN
  • J3KT70_HUMAN
  • J3QLP8_HUMAN
  • J3QRA6_HUMAN
  • J3QRD3_HUMAN
  • K7ENT1_HUMAN
genes like me logo Genes that share paralogs with ADAP2: view

Variants for ADAP2 Gene

Sequence variations from dbSNP and Humsavar for ADAP2 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs201148730 uncertain-significance, not provided 30,956,463(+) C/T coding_sequence_variant, missense_variant
rs1000095516 -- 30,941,888(+) A/G intron_variant
rs1000180252 -- 30,925,021(+) C/T intron_variant
rs1000319106 -- 30,954,890(+) C/T intron_variant
rs1000520306 -- 30,956,848(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ADAP2 Gene

Variant ID Type Subtype PubMed ID
esv2715813 CNV deletion 23290073
nsv457720 CNV loss 19166990
nsv833412 CNV loss 17160897

Variation tolerance for ADAP2 Gene

Residual Variation Intolerance Score: 36.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.35; 41.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADAP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADAP2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADAP2 Gene

Disorders for ADAP2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ADAP2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
chromosome 17q11.2 deletion syndrome, 1.4-mb
  • neurofibromatosis 1 microdeletion syndrome
- elite association - COSMIC cancer census association via MalaCards
Search ADAP2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ADAP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ADAP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ADAP2 Gene

Publications for ADAP2 Gene

  1. Identification of gene structure and subcellular localization of human centaurin alpha 2, and p42IP4, a family of two highly homologous, Ins 1,3,4,5-P4-/PtdIns 3,4,5-P3-binding, adapter proteins. (PMID: 14690521) Hanck T … Reiser G (Journal of neurochemistry 2004) 3 4 22 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J … Grant SF (BMC medical genetics 2010) 3 44 58
  4. Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966. (PMID: 19266077) Sovio U … Jarvelin MR (PLoS genetics 2009) 3 44 58
  5. RNF135 mutations are not present in patients with Sotos syndrome-like features. (PMID: 19291764) Visser R … Losekoot M (American journal of medical genetics. Part A 2009) 3 44 58

Products for ADAP2 Gene

Sources for ADAP2 Gene

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