Aliases for ABI2 Gene

Aliases for ABI2 Gene

  • Abl Interactor 2 2 3 4 5
  • Arg-Binding Protein 1 3 4
  • Abelson Interactor 2 3 4
  • ArgBP1 3 4
  • AblBP3 3 4
  • Abl-Interacting Protein 1 (SH3-Containing Protein) 3
  • Arg Protein Tyrosine Kinase-Binding Protein 3
  • Abl-Interactor Protein 2b 3
  • Abl Binding Protein 3 3
  • Abl-Binding Protein 3 4
  • Abl-Interactor 2 2
  • SSH3BP2 3
  • ArgBPIA 3
  • ArgBPIB 3
  • ARGBPIA 4
  • ABI-2 3
  • ABI2B 3
  • AIP-1 3
  • Abi-2 4
  • AIP1 3

External Ids for ABI2 Gene

Previous GeneCards Identifiers for ABI2 Gene

  • GC02P204368
  • GC02P204018
  • GC02P203901
  • GC02P204192
  • GC02P196040

Summaries for ABI2 Gene

GeneCards Summary for ABI2 Gene

ABI2 (Abl Interactor 2) is a Protein Coding gene. Diseases associated with ABI2 include Anosognosia and Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2H. Among its related pathways are Regulation of actin dynamics for phagocytic cup formation and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include ubiquitin protein ligase binding and SH3 domain binding. An important paralog of this gene is ABI1.

UniProtKB/Swiss-Prot Summary for ABI2 Gene

  • Regulator of actin cytoskeleton dynamics underlying cell motility and adhesion. Functions as a component of the WAVE complex, which activates actin nucleating machinery Arp2/3 to drive lamellipodia formation (PubMed:21107423). Acts as regulator and substrate of nonreceptor tyrosine kinases ABL1 and ABL2 involved in processes linked to cell growth and differentiation. Positively regulates ABL1-mediated phosphorylation of ENAH, which is required for proper polymerization of nucleated actin filaments at the leading edge (PubMed:7590236, PubMed:8649853, PubMed:10498863). Contributes to the regulation of actin assembly at the tips of neuron projections. In particular, controls dendritic spine morphogenesis and may promote dendritic spine specification toward large mushroom-type spines known as repositories of memory in the brain (By similarity). In hippocampal neurons, may mediate actin-dependent BDNF-NTRK2 early endocytic trafficking that triggers dendrite outgrowth (By similarity). Participates in ocular lens morphogenesis, likely by regulating lamellipodia-driven adherens junction formation at the epithelial cell-secondary lens fiber interface (By similarity). Also required for nascent adherens junction assembly in epithelial cells (PubMed:15572692).

Gene Wiki entry for ABI2 Gene

Additional gene information for ABI2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABI2 Gene

Genomics for ABI2 Gene

GeneHancer (GH) Regulatory Elements for ABI2 Gene

Promoters and enhancers for ABI2 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
GH02J203327 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.9 927 4 ZNF217 EP300 SIN3A NRF1 TCF12 MYC POLR2G NCOR1 PHF8 ZFX ABI2 ENSG00000256458 ICA1L CYP20A1
GH02J202608 Enhancer 0.9 Ensembl ENCODE 4.3 -718.3 -718274 3.6 EP300 TRIM22 BCL11A SMC3 MXI1 IRF1 SRF MEF2B PBX2 NBN FAM117B ABI2 MTCO1P17 lnc-FAM117B-6 HSALNG0021627
GH02J202642 Enhancer 0.7 ENCODE dbSUPER 5 -684.4 -684361 2.9 ZBTB17 BATF PRDM6 ZNF664 HDGF JUNB MTA2 PRDM10 PKNOX1 ETV6 FAM117B ABI2 lnc-ICA1L-7 piR-57138-033
GH02J202639 Enhancer 0.7 FANTOM5 dbSUPER 5.1 -688.5 -688454 0.3 RFX1 ZBTB48 E2F4 PKNOX1 PRDM1 FAM117B ABI2 CARF NOP58 lnc-ICA1L-7 piR-57138-033
GH02J202626 Enhancer 0.6 Ensembl dbSUPER 4.1 -699.7 -699673 4 USF1 ZNF3 FOXP1 USF2 MNT FAM117B SNORD70B NOP58 SNORD70 ABI2 RF00017-3405 RF00005-103
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABI2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABI2

Top Transcription factor binding sites by QIAGEN in the ABI2 gene promoter:
  • AML1a
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Pax-5
  • RP58
  • Sp1

Genomic Locations for ABI2 Gene

Genomic Locations for ABI2 Gene
chr2:203,327,874-203,447,728
(GRCh38/hg38)
Size:
119,855 bases
Orientation:
Plus strand
chr2:204,192,942-204,312,446
(GRCh37/hg19)
Size:
119,505 bases
Orientation:
Plus strand

Genomic View for ABI2 Gene

Genes around ABI2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABI2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABI2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABI2 Gene

Proteins for ABI2 Gene

  • Protein details for ABI2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NYB9-ABI2_HUMAN
    Recommended name:
    Abl interactor 2
    Protein Accession:
    Q9NYB9
    Secondary Accessions:
    • B4DSN1
    • Q13147
    • Q13249
    • Q13801
    • Q9BV70

    Protein attributes for ABI2 Gene

    Size:
    513 amino acids
    Molecular mass:
    55663 Da
    Quaternary structure:
    • Component of the WAVE complex composed of ABI2, CYFIP1 or CYFIP2, BRK1, NCKAP1 and WASF1/WAVE1. Within the complex, a heterodimer containing NCKAP1 and CYFIP1 interacts with a heterotrimer formed by WAVE1, ABI2 and BRK1. CYFIP2 binds to activated RAC1 which causes the complex to dissociate, releasing activated WASF1 (PubMed:21107423). Interacts (via SH3 domain) with ABL1 and ABL2 (PubMed:7590236, PubMed:8649853).
    • (Microbial infection) Interacts with human cytomegalovirus UL135.

    Three dimensional structures from OCA and Proteopedia for ABI2 Gene

    Alternative splice isoforms for ABI2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABI2 Gene

Post-translational modifications for ABI2 Gene

Other Protein References for ABI2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for ABI2
  • Boster Bio Antibodies for ABI2

No data available for DME Specific Peptides for ABI2 Gene

Domains & Families for ABI2 Gene

Gene Families for ABI2 Gene

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

Protein Domains for ABI2 Gene

Blocks:
  • SH3 domain signature
  • Abl-interactor HHR
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ABI2 Gene

GenScript: Design optimal peptide antigens:
  • Arg-binding protein 1 (ABI2_HUMAN)
  • ArgBPIB protein (Q13802_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NYB9

UniProtKB/Swiss-Prot:

ABI2_HUMAN :
  • The SH3 domain is critical for binding to ABL1 and ABL2.
  • Belongs to the ABI family.
Domain:
  • The SH3 domain is critical for binding to ABL1 and ABL2.
Family:
  • Belongs to the ABI family.
genes like me logo Genes that share domains with ABI2: view

Function for ABI2 Gene

Molecular function for ABI2 Gene

UniProtKB/Swiss-Prot Function:
Regulator of actin cytoskeleton dynamics underlying cell motility and adhesion. Functions as a component of the WAVE complex, which activates actin nucleating machinery Arp2/3 to drive lamellipodia formation (PubMed:21107423). Acts as regulator and substrate of nonreceptor tyrosine kinases ABL1 and ABL2 involved in processes linked to cell growth and differentiation. Positively regulates ABL1-mediated phosphorylation of ENAH, which is required for proper polymerization of nucleated actin filaments at the leading edge (PubMed:7590236, PubMed:8649853, PubMed:10498863). Contributes to the regulation of actin assembly at the tips of neuron projections. In particular, controls dendritic spine morphogenesis and may promote dendritic spine specification toward large mushroom-type spines known as repositories of memory in the brain (By similarity). In hippocampal neurons, may mediate actin-dependent BDNF-NTRK2 early endocytic trafficking that triggers dendrite outgrowth (By similarity). Participates in ocular lens morphogenesis, likely by regulating lamellipodia-driven adherens junction formation at the epithelial cell-secondary lens fiber interface (By similarity). Also required for nascent adherens junction assembly in epithelial cells (PubMed:15572692).

Phenotypes From GWAS Catalog for ABI2 Gene

Gene Ontology (GO) - Molecular Function for ABI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding TAS 7590236
GO:0005515 protein binding IPI,IEA 16189514
GO:0008093 cytoskeletal adaptor activity TAS 12011975
GO:0017124 SH3 domain binding IBA,TAS 8649853
GO:0019900 kinase binding NAS 8649853
genes like me logo Genes that share ontologies with ABI2: view
genes like me logo Genes that share phenotypes with ABI2: view

Animal Models for ABI2 Gene

MGI Knock Outs for ABI2:
  • Abi2 Abi2<tm1b(EUCOMM)Wtsi>
  • Abi2 Abi2<tm1Pen>

Animal Model Products

CRISPR Products

miRNA for ABI2 Gene

miRTarBase miRNAs that target ABI2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ABI2 Gene

Localization for ABI2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABI2 Gene

Cytoplasm. Nucleus.
[Isoform 1]: Cell projection, lamellipodium. Cell projection, filopodium. Cytoplasm, cytoskeleton. Cell junction, adherens junction. Note=Isoform 1 but not isoform 3 is localized to protruding lamellipodia and filopodia tips (PubMed:11516653, PubMed:15572692). Present at nascent adherens junctions, where it clusters adjacent to the tips of F-actin protrusions (PubMed:15572692). {ECO:0000269 PubMed:11516653, ECO:0000269 PubMed:15572692}.

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 ABI2 gene
Compartment Confidence
cytosol 5
cytoskeleton 4
nucleus 4
plasma membrane 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ABI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm TAS 8649853
GO:0005829 cytosol IDA 17101133
GO:0005856 cytoskeleton IEA --
GO:0005912 adherens junction IEA --
genes like me logo Genes that share ontologies with ABI2: view

Pathways & Interactions for ABI2 Gene

genes like me logo Genes that share pathways with ABI2: view

Pathways by source for ABI2 Gene

SIGNOR curated interactions for ABI2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ABI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization TAS 12011975
GO:0007399 nervous system development IEA --
GO:0008154 actin polymerization or depolymerization IEA,NAS 11516653
GO:0016032 viral process IEA --
GO:0016477 cell migration TAS 12011975
genes like me logo Genes that share ontologies with ABI2: view

Drugs & Compounds for ABI2 Gene

(1) Drugs for ABI2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with ABI2: view

Transcripts for ABI2 Gene

mRNA/cDNA for ABI2 Gene

88 REFSEQ mRNAs :
26 NCBI additional mRNA sequence :
24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABI2 Gene

No ASD Table

Relevant External Links for ABI2 Gene

GeneLoc Exon Structure for
ABI2

Expression for ABI2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ABI2 Gene

Protein differential expression in normal tissues from HIPED for ABI2 Gene

This gene is overexpressed in Fetal Brain (20.1), Frontal cortex (17.3), and Brain (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ABI2 Gene



Protein tissue co-expression partners for ABI2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABI2

SOURCE GeneReport for Unigene cluster for ABI2 Gene:

Hs.471156

mRNA Expression by UniProt/SwissProt for ABI2 Gene:

Q9NYB9-ABI2_HUMAN
Tissue specificity: Widely expressed. Abundant in testes, ovary, thymus, and colon, with lower but detectable levels in prostate, peripheral blood leukocytes, and spleen.

Evidence on tissue expression from TISSUES for ABI2 Gene

  • Nervous system(5)
genes like me logo Genes that share expression patterns with ABI2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ABI2 Gene

Orthologs for ABI2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ABI2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABI2 31
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ABI2 31 30
  • 96.07 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Abi2 17 31 30
  • 92.3 (n)
rat
(Rattus norvegicus)
Mammalia Abi2 30
  • 90.98 (n)
dog
(Canis familiaris)
Mammalia ABI2 31
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABI2 31
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ABI2 31
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABI2 31
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABI2 31
  • 72 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia lan4-A-prov 30
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5926 30
zebrafish
(Danio rerio)
Actinopterygii abi2a 31 30
  • 73.85 (n)
OneToMany
abi2b 31
  • 71 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Abi 31 30
  • 55.24 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001046 30
  • 52.39 (n)
worm
(Caenorhabditis elegans)
Secernentea abi-1 31
  • 36 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
OneToMany
Species where no ortholog for ABI2 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for ABI2 Gene

ENSEMBL:
Gene Tree for ABI2 (if available)
TreeFam:
Gene Tree for ABI2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABI2: view image

Paralogs for ABI2 Gene

Paralogs for ABI2 Gene

(50) SIMAP similar genes for ABI2 Gene using alignment to 15 proteins:

  • ABI2_HUMAN
  • E7EP65_HUMAN
  • E7EUA1_HUMAN
  • E7EW77_HUMAN
  • E9PEZ7_HUMAN
  • F8WAL6_HUMAN
  • F8WAQ3_HUMAN
  • F8WAU3_HUMAN
  • F8WAZ8_HUMAN
  • F8WBL5_HUMAN
  • F8WCD7_HUMAN
  • F8WEB9_HUMAN
  • H0Y6B5_HUMAN
  • H7C3Q7_HUMAN
  • J3KNB2_HUMAN
genes like me logo Genes that share paralogs with ABI2: view

Variants for ABI2 Gene

Additional dbSNP identifiers (rs#s) for ABI2 Gene

Structural Variations from Database of Genomic Variants (DGV) for ABI2 Gene

Variant ID Type Subtype PubMed ID
esv3594014 CNV loss 21293372
nsv1001799 CNV gain 25217958
nsv3115 CNV deletion 18451855

Variation tolerance for ABI2 Gene

Residual Variation Intolerance Score: 18% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.73; 15.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABI2 Gene

Human Gene Mutation Database (HGMD)
ABI2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABI2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABI2 Gene

Disorders for ABI2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ABI2 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search ABI2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ABI2

genes like me logo Genes that share disorders with ABI2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ABI2 Gene

Publications for ABI2 Gene

  1. Abi-2, a novel SH3-containing protein interacts with the c-Abl tyrosine kinase and modulates c-Abl transforming activity. (PMID: 7590236) Dai Z … Pendergast AM (Genes & development 1995) 2 3 4 23 54
  2. Identification of ArgBP1, an Arg protein tyrosine kinase binding protein that is the human homologue of a CNS-specific Xenopus gene. (PMID: 8649853) Wang B … Kruh GD (Oncogene 1996) 3 4 23 54
  3. GWAS of butyrylcholinesterase activity identifies four novel loci, independent effects within BCHE and secondary associations with metabolic risk factors. (PMID: 21862451) Benyamin B … Whitfield JB (Human molecular genetics 2011) 3 41 54
  4. Structure and control of the actin regulatory WAVE complex. (PMID: 21107423) Chen Z … Rosen MK (Nature 2010) 3 4 54
  5. Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study. (PMID: 17903303) O'Donnell CJ … Demissie S (BMC medical genetics 2007) 3 41 54

Products for ABI2 Gene

Sources for ABI2 Gene