Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ABI3 Gene

Aliases for ABI3 Gene

  • ABI Family Member 3 2 3 5
  • New Molecule Including SH3 3 4
  • NESH 3 4
  • ABI Gene Family Member 3 3
  • ABI Family, Member 3 2
  • SSH3BP3 3
  • Nesh 4

External Ids for ABI3 Gene

Previous GeneCards Identifiers for ABI3 Gene

  • GC17P047763
  • GC17P044642
  • GC17P047287
  • GC17P042653

Summaries for ABI3 Gene

Entrez Gene Summary for ABI3 Gene

  • This gene encodes a member of an adaptor protein family. Members of this family encode proteins containing a homeobox homology domain, proline rich region and Src-homology 3 (SH3) domain, and are components of the Abi/WAVE complex which regulates actin polymerization. The encoded protein inhibits ectopic metastasis of tumor cells as well as cell migration. This may be accomplished through interaction with p21-activated kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

GeneCards Summary for ABI3 Gene

ABI3 (ABI Family Member 3) is a Protein Coding gene. Diseases associated with ABI3 include Mucocutaneous Leishmaniasis. An important paralog of this gene is ABI1.

UniProtKB/Swiss-Prot for ABI3 Gene

  • May inhibit tumor metastasis (By similarity). In vitro, reduces cell motility.

Gene Wiki entry for ABI3 Gene

Additional gene information for ABI3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABI3 Gene

Genomics for ABI3 Gene

GeneHancer (GH) Regulatory Elements for ABI3 Gene

Promoters and enhancers for ABI3 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
GH17J049208 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 663.8 +4.3 4328 12.1 HDGF PKNOX1 SMAD1 YBX1 IRF4 ZNF207 ATF7 FOS RUNX3 RXRA ABI3 GNGT2 B4GALNT2 CALCOCO2 UBE2Z PIR31803
GH17J049230 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 10.5 +20.5 20487 1.4 ATF1 SIN3A ZBTB7B ZNF143 ZFP91 RUNX3 SP3 NFYC MIER2 GLIS1 PHOSPHO1 ABI3 LOC105371816
GH17J049387 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.9 +179.4 179388 4.5 ATF1 PKNOX1 ZNF133 FEZF1 DMAP1 GTF3C2 TCF12 GATA2 ZFP91 FOS ZNF652 UBE2Z ENSG00000262837 SPOP ENSG00000248714 PHB ENSG00000207127 FLJ45513 ABI3 SNF8
GH17J049340 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.7 +132.1 132063 3.5 STAT5A BMI1 YBX1 BATF IRF4 ZNF335 ZNF366 ATF7 BCLAF1 IKZF2 ZNF652 RPL21P124 ENSG00000250186 PHB ABI3 GNGT2 FLJ40194 GC17M049339 PIR41840
GH17J049106 Enhancer 1.2 Ensembl ENCODE 10 -102.6 -102605 3 FOXA2 MLX ARNT ARID4B NEUROD1 SIN3A DMAP1 SLC30A9 FOS NFYC B4GALNT2 ENSG00000238804 GNGT2 ABI3 B4GALNT2P1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ABI3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ABI3 gene promoter:
  • GATA-3
  • Ik-2
  • GATA-2
  • LyF-1
  • CBF(2)
  • CBF-A
  • CBF-B
  • CBF-C
  • CP1A
  • CP1C

Genomic Locations for ABI3 Gene

Genomic Locations for ABI3 Gene
chr17:49,210,227-49,223,225
(GRCh38/hg38)
Size:
12,999 bases
Orientation:
Plus strand
chr17:47,287,589-47,300,587
(GRCh37/hg19)
Size:
12,999 bases
Orientation:
Plus strand

Genomic View for ABI3 Gene

Genes around ABI3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABI3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABI3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABI3 Gene

Proteins for ABI3 Gene

  • Protein details for ABI3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2A4-ABI3_HUMAN
    Recommended name:
    ABI gene family member 3
    Protein Accession:
    Q9P2A4
    Secondary Accessions:
    • C9IZN8
    • Q9H0P6

    Protein attributes for ABI3 Gene

    Size:
    366 amino acids
    Molecular mass:
    39035 Da
    Quaternary structure:
    • May interact with PAK1 and PAK2. Probably interacts with TARSH.

    Alternative splice isoforms for ABI3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABI3 Gene

Post-translational modifications for ABI3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ABI3 Gene

Domains & Families for ABI3 Gene

Gene Families for ABI3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ABI3 Gene

Suggested Antigen Peptide Sequences for ABI3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9P2A4

UniProtKB/Swiss-Prot:

ABI3_HUMAN :
  • Belongs to the ABI family.
Family:
  • Belongs to the ABI family.
genes like me logo Genes that share domains with ABI3: view

Function for ABI3 Gene

Molecular function for ABI3 Gene

UniProtKB/Swiss-Prot Function:
May inhibit tumor metastasis (By similarity). In vitro, reduces cell motility.

Phenotypes From GWAS Catalog for ABI3 Gene

Gene Ontology (GO) - Molecular Function for ABI3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0042802 identical protein binding IPI 25416956
genes like me logo Genes that share ontologies with ABI3: view
genes like me logo Genes that share phenotypes with ABI3: view

Animal Model Products

miRNA for ABI3 Gene

miRTarBase miRNAs that target ABI3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ABI3 Gene

Localization for ABI3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABI3 Gene

Cytoplasm. Note=Colocalizes with PAK2 at leading edge of cells.

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 ABI3 gene
Compartment Confidence
cytosol 3
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for ABI3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA 17101133
GO:0005737 cytoplasm IDA,NAS 11956071
GO:0016020 membrane HDA 19946888
GO:0030027 lamellipodium IDA 17101133
genes like me logo Genes that share ontologies with ABI3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ABI3 Gene

Pathways & Interactions for ABI3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ABI3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0018108 NOT peptidyl-tyrosine phosphorylation IDA 17101133
GO:0030334 regulation of cell migration IDA 11956071
genes like me logo Genes that share ontologies with ABI3: view

No data available for Pathways by source and SIGNOR curated interactions for ABI3 Gene

Drugs & Compounds for ABI3 Gene

(1) Additional Compounds for ABI3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ABI3: view

Transcripts for ABI3 Gene

mRNA/cDNA for ABI3 Gene

Unigene Clusters for ABI3 Gene

ABI family, member 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABI3 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8
SP1: - -
SP2: -
SP3:

Relevant External Links for ABI3 Gene

GeneLoc Exon Structure for
ABI3
ECgene alternative splicing isoforms for
ABI3

Expression for ABI3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ABI3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ABI3 Gene

This gene is overexpressed in Whole Blood (x10.1) and Spleen (x8.3).

Protein differential expression in normal tissues from HIPED for ABI3 Gene

This gene is overexpressed in Lymph node (14.2), NK cells (13.8), Spleen (10.4), and CD8 Tcells (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ABI3 Gene



Protein tissue co-expression partners for ABI3 Gene

NURSA nuclear receptor signaling pathways regulating expression of ABI3 Gene:

ABI3

SOURCE GeneReport for Unigene cluster for ABI3 Gene:

Hs.130719

mRNA Expression by UniProt/SwissProt for ABI3 Gene:

Q9P2A4-ABI3_HUMAN
Tissue specificity: Expressed in heart, lung, liver, pancreas, kidney, placenta and at low levels in brain and skeletal muscle.

Evidence on tissue expression from TISSUES for ABI3 Gene

  • Kidney(4.1)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with ABI3: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ABI3 Gene

Orthologs for ABI3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ABI3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABI3 34 33
  • 99.18 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ABI3 34 33
  • 87.08 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ABI3 34 33
  • 86.9 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Abi3 16 34 33
  • 80.85 (n)
rat
(Rattus norvegicus)
Mammalia Abi3 33
  • 80.85 (n)
oppossum
(Monodelphis domestica)
Mammalia ABI3 34
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABI3 34
  • 32 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABI3 34
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 61 (a)
OneToMany
-- 34
  • 47 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii ABI3 (1 of 2) 34
  • 34 (a)
OneToMany
ABI3 (2 of 2) 34
  • 26 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Abi 34
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea abi-1 34
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 32 (a)
OneToMany
Species where no ortholog for ABI3 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)
  • 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 ABI3 Gene

ENSEMBL:
Gene Tree for ABI3 (if available)
TreeFam:
Gene Tree for ABI3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABI3: view image

Paralogs for ABI3 Gene

Paralogs for ABI3 Gene

(6) SIMAP similar genes for ABI3 Gene using alignment to 4 proteins:

  • ABI3_HUMAN
  • I3L1X2_HUMAN
  • I3L3W4_HUMAN
  • L8ECG8_HUMAN
genes like me logo Genes that share paralogs with ABI3: view

Variants for ABI3 Gene

Sequence variations from dbSNP and Humsavar for ABI3 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000077593 -- 49,211,711(+) C/A intron_variant
rs1000349320 -- 49,221,036(+) GGTGGTGCG/G intron_variant
rs1000464309 -- 49,213,464(+) C/T intron_variant
rs1000830663 -- 49,219,565(+) C/T coding_sequence_variant, missense_variant
rs1001094594 -- 49,219,815(+) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ABI3 Gene

Variant ID Type Subtype PubMed ID
nsv953924 CNV deletion 24416366
nsv2074 CNV insertion 18451855

Variation tolerance for ABI3 Gene

Residual Variation Intolerance Score: 68.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.51; 77.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABI3 Gene

Human Gene Mutation Database (HGMD)
ABI3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABI3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABI3 Gene

Disorders for ABI3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ABI3 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
mucocutaneous leishmaniasis
  • american cutaneous leishmaniasis
- elite association - COSMIC cancer census association via MalaCards
Search ABI3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ABI3

genes like me logo Genes that share disorders with ABI3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ABI3 Gene

Publications for ABI3 Gene

  1. Forced expression of NESH suppresses motility and metastatic dissemination of malignant cells. (PMID: 11956071) Ichigotani Y … Matsuda S (Cancer research 2002) 2 3 4 58
  2. Isolation and characterization of a novel human gene (NESH) which encodes a putative signaling molecule similar to e3B1 protein. (PMID: 10978530) Miyazaki K … Hamaguchi M (Biochimica et biophysica acta 2000) 2 3 4 58
  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 58
  4. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 3 4 58
  5. Cloning and sequencing of a novel human gene that encodes a putative target protein of Nesh-SH3. (PMID: 11501947) Matsuda S … Hamaguchi M (Journal of human genetics 2001) 3 4 58

Products for ABI3 Gene

Sources for ABI3 Gene

Content
Loading form....