Aliases for ACAP2 Gene

Aliases for ACAP2 Gene

  • ArfGAP With Coiled-Coil, Ankyrin Repeat And PH Domains 2 2 3 5
  • Arf-GAP With Coiled-Coil, ANK Repeat And PH Domain-Containing Protein 2 3 4
  • Centaurin-Beta-2 3 4
  • KIAA0041 2 4
  • CENTB2 3 4
  • CNT-B2 2 3
  • Arf GAP With Coiled Coil, ANK Repeat And PH Domains 2 3
  • Centaurin, Beta 2 2
  • Cnt-B2 4
  • ACAP2 5

External Ids for ACAP2 Gene

Previous HGNC Symbols for ACAP2 Gene

  • CENTB2

Previous GeneCards Identifiers for ACAP2 Gene

  • GC03M196477
  • GC03M194995
  • GC03M192371

Summaries for ACAP2 Gene

GeneCards Summary for ACAP2 Gene

ACAP2 (ArfGAP With Coiled-Coil, Ankyrin Repeat And PH Domains 2) is a Protein Coding gene. Diseases associated with ACAP2 include Tethered Spinal Cord Syndrome. Among its related pathways are Endocytosis and Arf6 signaling events. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and Rab GTPase binding. An important paralog of this gene is ACAP3.

UniProtKB/Swiss-Prot Summary for ACAP2 Gene

  • GTPase-activating protein (GAP) for ADP ribosylation factor 6 (ARF6).

Gene Wiki entry for ACAP2 Gene

Additional gene information for ACAP2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACAP2 Gene

Genomics for ACAP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ACAP2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACAP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACAP2

Top Transcription factor binding sites by QIAGEN in the ACAP2 gene promoter:
  • AP-4
  • GR
  • GR-alpha
  • Meis-1
  • Meis-1a
  • Meis-1b
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT5B

Genomic Locations for ACAP2 Gene

Genomic Locations for ACAP2 Gene
chr3:195,274,742-195,443,176
(GRCh38/hg38)
Size:
168,435 bases
Orientation:
Minus strand
chr3:194,995,465-195,163,817
(GRCh37/hg19)
Size:
168,353 bases
Orientation:
Minus strand

Genomic View for ACAP2 Gene

Genes around ACAP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACAP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACAP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACAP2 Gene

Proteins for ACAP2 Gene

  • Protein details for ACAP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15057-ACAP2_HUMAN
    Recommended name:
    Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2
    Protein Accession:
    Q15057
    Secondary Accessions:
    • A8K2V4
    • Q8N5Z8
    • Q9UQR3

    Protein attributes for ACAP2 Gene

    Size:
    778 amino acids
    Molecular mass:
    88029 Da
    Quaternary structure:
    • Interacts with RAB35 (GTP-bound form); the interaction is direct and probably recruits ACAP2 to membranes. Interacts with MICALL1; the interaction is indirect through RAB35 (By similarity).
    SequenceCaution:
    • Sequence=BAA05064.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAB41450.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ACAP2 Gene

neXtProt entry for ACAP2 Gene

Post-translational modifications for ACAP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ACAP2 Gene

Domains & Families for ACAP2 Gene

Gene Families for ACAP2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ACAP2 Gene

InterPro:
Blocks:
  • Ankyrin repeat signature
  • Pleckstrin-like
  • HIV Rev interacting protein signature
ProtoNet:

Suggested Antigen Peptide Sequences for ACAP2 Gene

GenScript: Design optimal peptide antigens:
  • Centaurin-beta-2 (ACAP2_HUMAN)
genes like me logo Genes that share domains with ACAP2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ACAP2 Gene

Function for ACAP2 Gene

Molecular function for ACAP2 Gene

UniProtKB/Swiss-Prot Function:
GTPase-activating protein (GAP) for ADP ribosylation factor 6 (ARF6).
UniProtKB/Swiss-Prot EnzymeRegulation:
GAP activity stimulated by phosphatidylinositol 4,5-bisphosphate (PIP2) and phosphatidic acid.

Phenotypes From GWAS Catalog for ACAP2 Gene

Gene Ontology (GO) - Molecular Function for ACAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA,IDA 11062263
GO:0005515 protein binding IEA --
GO:0017137 Rab GTPase binding IEA --
GO:0046872 metal ion binding IEA --
GO:0080025 phosphatidylinositol-3,5-bisphosphate binding IEA --
genes like me logo Genes that share ontologies with ACAP2: view
genes like me logo Genes that share phenotypes with ACAP2: view

Animal Model Products

CRISPR Products

miRNA for ACAP2 Gene

miRTarBase miRNAs that target ACAP2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACAP2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ACAP2 Gene

Localization for ACAP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACAP2 Gene

Endosome membrane. Peripheral membrane protein.

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 ACAP2 gene
Compartment Confidence
endosome 4
plasma membrane 3
nucleus 3
cytosol 2
golgi apparatus 2
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ACAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IDA 11062263
GO:0005768 endosome IEA --
GO:0010008 endosome membrane IBA,ISS --
GO:0016020 membrane IEA,HDA 19946888
genes like me logo Genes that share ontologies with ACAP2: view

Pathways & Interactions for ACAP2 Gene

PathCards logo

SuperPathways for ACAP2 Gene

SuperPathway Contained pathways
1 Endocytosis
2 Arf6 signaling events
genes like me logo Genes that share pathways with ACAP2: view

Pathways by source for ACAP2 Gene

1 BioSystems pathway for ACAP2 Gene
1 KEGG pathway for ACAP2 Gene

Gene Ontology (GO) - Biological Process for ACAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030029 actin filament-based process IDA 11062263
GO:0032456 endocytic recycling ISS --
GO:0043547 positive regulation of GTPase activity IEA --
GO:1990090 cellular response to nerve growth factor stimulus ISS --
genes like me logo Genes that share ontologies with ACAP2: view

No data available for SIGNOR curated interactions for ACAP2 Gene

Drugs & Compounds for ACAP2 Gene

(12) Additional Compounds for ACAP2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PA(16:0/16:0)
  • 1,2-Dipalmitoyl-3-sn-phosphatidic acid
  • 1,2-Dipalmitoyl-sn-glycerol-3-phosphate
  • 1,2-Dipalmitoyl-sn-glycerol-3-phosphoric acid
  • Dipalmitoyl phosphatidic acid
  • PA(32:0)
7091-44-3
PA(16:0/18:1(11Z))
  • 1-Hexadecanoyl-2-(11Z-octadecenoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-vaccenoyl-sn-glycero-3-phosphate
  • PA(16:0/18:1)
  • PA(16:0/18:1N7)
  • PA(16:0/18:1W7)
PA(16:0/18:1(9Z))
  • (2R)-1-(Palmitoyloxy)-3-(phosphonooxy)propan-2-yl (9Z)-octadec-9-enoate
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphate
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycerol 3-phosphate
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-phosphatidic acid
  • PA(16:0/18:1)
PA(16:0/18:2(9Z,12Z))
  • 1-16:0-2-18:2-Phosphatidic acid
  • 1-Palmitoyl-2-linoleoyl-sn-glycero-3-phosphate
  • 16:0-18:2-PA
  • 2-Linoleoyl-1-palmitoyl-sn-glycero-3-phosphate
  • PA(16:0/18:2)
PA(16:0e/18:0)
  • 2-Octadecanoyl-1-hexadecyl-sn-glycero-3-phosphate
  • PA(O-16:0/18:0)
genes like me logo Genes that share compounds with ACAP2: view

Transcripts for ACAP2 Gene

mRNA/cDNA for ACAP2 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACAP2

Alternative Splicing Database (ASD) splice patterns (SP) for ACAP2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^
SP1:
SP2:
SP3: - - - - -
SP4: - - -
SP5: - - - -
SP6:
SP7: - -
SP8: - - - -
SP9:
SP10:
SP11:
SP12: -

ExUns: 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24a · 24b ^ 25 ^ 26 ^ 27
SP1:
SP2:
SP3:
SP4:
SP5:
SP6: - - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for ACAP2 Gene

GeneLoc Exon Structure for
ACAP2

Expression for ACAP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACAP2 Gene

mRNA differential expression in normal tissues according to GTEx for ACAP2 Gene

This gene is overexpressed in Whole Blood (x4.5).

Protein differential expression in normal tissues from HIPED for ACAP2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (25.0) and Lymph node (16.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ACAP2 Gene



Protein tissue co-expression partners for ACAP2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACAP2

SOURCE GeneReport for Unigene cluster for ACAP2 Gene:

Hs.593373

mRNA Expression by UniProt/SwissProt for ACAP2 Gene:

Q15057-ACAP2_HUMAN
Tissue specificity: Widely expressed. Highest level in lung.

Evidence on tissue expression from TISSUES for ACAP2 Gene

  • Nervous system(4.7)
  • Blood(4.4)
  • Bone marrow(4.3)
  • Liver(4.2)
  • Kidney(2.1)
  • Lung(2.1)
  • Skin(2)
genes like me logo Genes that share expression patterns with ACAP2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACAP2 Gene

Orthologs for ACAP2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACAP2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ACAP2 30 31
  • 99.74 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ACAP2 31
  • 96 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia ACAP2 30 31
  • 92.46 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ACAP2 31
  • 92 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Acap2 30 17 31
  • 89.31 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Acap2 30
  • 89.26 (n)
Oppossum
(Monodelphis domestica)
Mammalia ACAP2 31
  • 80 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ACAP2 30 31
  • 80.22 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 8 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia acap2 30
  • 75.66 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68712 30
Zebrafish
(Danio rerio)
Actinopterygii acap2 31
  • 70 (a)
OneToMany
ACAP2 (1 of 2) 31
  • 65 (a)
OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2620 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000563 30
  • 49.44 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta cenB1A 30 31
  • 48.08 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea cnt-1 30 31
  • 46.32 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AGE1 31
  • 21 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AGD2 30
  • 47.08 (n)
Rice
(Oryza sativa)
Liliopsida Os02g0632500 30
  • 47.94 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 38 (a)
OneToMany
Species where no ortholog for ACAP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ACAP2 Gene

ENSEMBL:
Gene Tree for ACAP2 (if available)
TreeFam:
Gene Tree for ACAP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACAP2: view image

Paralogs for ACAP2 Gene

(3) SIMAP similar genes for ACAP2 Gene using alignment to 6 proteins:

  • ACAP2_HUMAN
  • C9J8L1_HUMAN
  • F8WAU0_HUMAN
  • H7C1E0_HUMAN
  • H7C3K3_HUMAN
  • H7C3Q8_HUMAN
genes like me logo Genes that share paralogs with ACAP2: view

Variants for ACAP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACAP2 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
785079 Likely Benign: not provided 195,392,120(-) A/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ACAP2 Gene

Structural Variations from Database of Genomic Variants (DGV) for ACAP2 Gene

Variant ID Type Subtype PubMed ID
esv2657233 CNV deletion 23128226
esv2662107 CNV deletion 23128226
esv2669458 CNV deletion 23128226
esv2726463 CNV deletion 23290073
esv2759213 CNV gain+loss 17122850
esv3304862 CNV mobile element insertion 20981092
esv3324582 CNV insertion 20981092
esv3599226 CNV gain 21293372
esv3599234 CNV loss 21293372
esv8403 CNV gain 19470904
nsv1006229 CNV gain 25217958
nsv1009796 CNV gain 25217958
nsv508977 CNV insertion 20534489
nsv526569 CNV gain 19592680
nsv829824 CNV loss 17160897
nsv963394 CNV duplication 23825009

Variation tolerance for ACAP2 Gene

Residual Variation Intolerance Score: 18.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.19; 23.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACAP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACAP2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACAP2 Gene

Disorders for ACAP2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ACAP2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
tethered spinal cord syndrome
  • spinal dysraphism
- elite association - COSMIC cancer census association via MalaCards
Search ACAP2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ACAP2

genes like me logo Genes that share disorders with ACAP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ACAP2 Gene

Publications for ACAP2 Gene

  1. ACAPs are arf6 GTPase-activating proteins that function in the cell periphery. (PMID: 11062263) Jackson TR … Randazzo PA (The Journal of cell biology 2000) 2 3 4 23
  2. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PMID: 15592455) Rush J … Comb MJ (Nature biotechnology 2005) 3 4
  3. 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
  4. Identification of pleckstrin-homology-domain-containing proteins with novel phosphoinositide-binding specificities. (PMID: 11001876) Dowler S … Alessi DR (The Biochemical journal 2000) 3 23
  5. Cytohesins and centaurins: mediators of PI 3-kinase-regulated Arf signaling. (PMID: 11050434) Jackson TR … Theibert AB (Trends in biochemical sciences 2000) 2 3

Products for ACAP2 Gene

Sources for ACAP2 Gene