Aliases for ABI3BP Gene

Aliases for ABI3BP Gene

  • ABI Family Member 3 Binding Protein 2 3 5
  • Target Of Nesh-SH3 2 3 4
  • NESHBP 2 3 4
  • TARSH 2 3 4
  • ABI Family, Member 3 (NESH) Binding Protein 2 3
  • ABI Gene Family Member 3-Binding Protein 3 4
  • Nesh-Binding Protein 3 4
  • ABI Gene Family, Member 3 (NESH) Binding Protein 3
  • DKFZP586L2024 2
  • ABI3BP 5
  • NeshBP 4
  • Tarsh 4

External Ids for ABI3BP Gene

Previous GeneCards Identifiers for ABI3BP Gene

  • GC03M101951
  • GC03M100468
  • GC03M097836

Summaries for ABI3BP Gene

GeneCards Summary for ABI3BP Gene

ABI3BP (ABI Family Member 3 Binding Protein) is a Protein Coding gene. Diseases associated with ABI3BP include Agnathia-Otocephaly Complex and Mood Disorder. Gene Ontology (GO) annotations related to this gene include heparin binding and glycosaminoglycan binding. An important paralog of this gene is FNDC1.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABI3BP Gene

Genomics for ABI3BP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ABI3BP 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
GH03J100991 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 606 +0.9 919 3.2 PRDM10 ZNF629 ZSCAN4 ZNF341 SCRT2 JUND MAFF ATF3 ZBTB17 ATF2 ABI3BP PDCL3P4 NXPE3 RF00026-724 RNU6-865P TFG
GH03J100968 Enhancer 0.9 Ensembl ENCODE dbSUPER 16.9 +21.9 21862 5.5 JUND CEBPB OSR2 CREB1 WT1 PRDM6 GLIS1 NR3C1 ABI3BP ZBTB11 RF00026-724 RNU6-865P TFG
GH03J101825 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.7 -835.0 -834988 5.8 SP1 GATAD2A PRDM10 ZNF629 ZNF512 IKZF1 RCOR2 POLR2A BACH1 STAT3 NFKBIZ lnc-NXPE3-1 NXPE3 ZBTB11-AS1 SENP7 ABI3BP ZBTB11 lnc-NXPE3-2 ZPLD1
GH03J100965 Enhancer 0.8 Ensembl ENCODE dbSUPER 11.1 +27.2 27181 2.5 CREB1 JUND RCOR1 YY1 CHD2 GATA2 POLR2A ABI3BP RF00026-724 RNU6-865P TFG
GH03J101034 Enhancer 0.8 Ensembl ENCODE 7.2 -43.7 -43726 5.1 TEAD4 FOXA1 SP1 CEBPB JUND JUN RCOR1 NFIC EP300 FOSL2 RNU6-865P ABI3BP PDCL3P4 ACTR3P3 lnc-TRMT10C-5 IMPG2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABI3BP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABI3BP

Top Transcription factor binding sites by QIAGEN in the ABI3BP gene promoter:
  • aMEF-2
  • AML1a
  • C/EBPalpha
  • Evi-1
  • FOXF2
  • HFH-3
  • MEF-2A
  • POU3F2
  • POU6F1 (c2)
  • STAT1

Genomic Locations for ABI3BP Gene

Genomic Locations for ABI3BP Gene
chr3:100,749,156-100,993,515
(GRCh38/hg38)
Size:
244,360 bases
Orientation:
Minus strand
chr3:100,468,000-100,712,359
(GRCh37/hg19)
Size:
244,360 bases
Orientation:
Minus strand

Genomic View for ABI3BP Gene

Genes around ABI3BP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABI3BP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABI3BP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABI3BP Gene

Proteins for ABI3BP Gene

  • Protein details for ABI3BP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z7G0-TARSH_HUMAN
    Recommended name:
    Target of Nesh-SH3
    Protein Accession:
    Q7Z7G0
    Secondary Accessions:
    • B3KSL4
    • Q6ZW20
    • Q6ZW22
    • Q9C082
    • Q9UFI6

    Protein attributes for ABI3BP Gene

    Size:
    1075 amino acids
    Molecular mass:
    118642 Da
    Quaternary structure:
    • Probably interacts with ABI3.
    SequenceCaution:
    • Sequence=CAB56034.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ABI3BP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABI3BP Gene

Post-translational modifications for ABI3BP Gene

  • Glycosylation at Asn44, Asn690, Asn259, Asn288, Asn878, and Asn313
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • TARSH_HUMAN (1785)

No data available for DME Specific Peptides for ABI3BP Gene

Domains & Families for ABI3BP Gene

Gene Families for ABI3BP Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for ABI3BP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ABI3BP Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ56632, moderately similar to Target of Nesh-SH3 (B4DSV9_HUMAN)
  • Nesh-binding protein (TARSH_HUMAN)
genes like me logo Genes that share domains with ABI3BP: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ABI3BP Gene

Function for ABI3BP Gene

Phenotypes From GWAS Catalog for ABI3BP Gene

Gene Ontology (GO) - Molecular Function for ABI3BP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent RCA 20551380
GO:0005515 protein binding IEA --
GO:0005518 collagen binding IEA --
GO:0005539 glycosaminoglycan binding IEA --
GO:0008201 heparin binding IEA --
genes like me logo Genes that share ontologies with ABI3BP: view

Phenotypes for ABI3BP Gene

GenomeRNAi human phenotypes for ABI3BP:
genes like me logo Genes that share phenotypes with ABI3BP: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ABI3BP

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABI3BP

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ABI3BP Gene

Localization for ABI3BP Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABI3BP Gene

Secreted.

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 ABI3BP gene
Compartment Confidence
extracellular 4
plasma membrane 3
cytoskeleton 2
nucleus 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for ABI3BP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region HDA 27068509
GO:0005614 interstitial matrix IEA --
GO:0005615 extracellular space HDA 20551380
GO:0031012 extracellular matrix IEA --
GO:0062023 colocalizes_with collagen-containing extracellular matrix HDA 20551380
genes like me logo Genes that share ontologies with ABI3BP: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ABI3BP Gene

Pathways & Interactions for ABI3BP Gene

PathCards logo

SuperPathways for ABI3BP Gene

No Data Available

Interacting Proteins for ABI3BP Gene

Gene Ontology (GO) - Biological Process for ABI3BP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010811 positive regulation of cell-substrate adhesion IEA --
GO:0030198 extracellular matrix organization IEA --
genes like me logo Genes that share ontologies with ABI3BP: view

No data available for Pathways by source and SIGNOR curated interactions for ABI3BP Gene

Drugs & Compounds for ABI3BP Gene

No Compound Related Data Available

Transcripts for ABI3BP Gene

mRNA/cDNA for ABI3BP Gene

11 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
28 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 ABI3BP

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABI3BP Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
SP1: - -
SP2: -
SP3:
SP4:
SP5:

ExUns: 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32a · 32b ^ 33 ^ 34 ^ 35 ^ 36 ^ 37a · 37b
SP1: -
SP2:
SP3:
SP4:
SP5:

Relevant External Links for ABI3BP Gene

GeneLoc Exon Structure for
ABI3BP

Expression for ABI3BP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ABI3BP Gene

mRNA differential expression in normal tissues according to GTEx for ABI3BP Gene

This gene is overexpressed in Artery - Tibial (x4.2).

Protein differential expression in normal tissues from HIPED for ABI3BP Gene

This gene is overexpressed in Serum (21.9), Vitreous humor (11.9), and Skin (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ABI3BP Gene



Protein tissue co-expression partners for ABI3BP Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABI3BP

SOURCE GeneReport for Unigene cluster for ABI3BP Gene:

Hs.477015

mRNA Expression by UniProt/SwissProt for ABI3BP Gene:

Q7Z7G0-TARSH_HUMAN
Tissue specificity: Expressed in brain, heart, lung, liver, pancreas kidney and placenta.

Evidence on tissue expression from TISSUES for ABI3BP Gene

  • Lung(4.4)
  • Liver(4.1)
  • Thyroid gland(2.6)
  • Gall bladder(2.4)
  • Heart(2.3)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with ABI3BP: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ABI3BP Gene

Orthologs for ABI3BP Gene

This gene was present in the common ancestor of chordates.

Orthologs for ABI3BP Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ABI3BP 31
  • 98 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia ABI3BP 30 31
  • 87.53 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ABI3BP 31
  • 76 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Abi3bp 31
  • 68 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ABI3BP 31
  • 58 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ABI3BP 31
  • 57 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ABI3BP 30 31
  • 63.37 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ABI3BP 31
  • 52 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii abi3bp 31
  • 43 (a)
OneToMany
ABI3BP (1 of 2) 31
  • 32 (a)
OneToMany
-- 30
Species where no ortholog for ABI3BP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for ABI3BP Gene

ENSEMBL:
Gene Tree for ABI3BP (if available)
TreeFam:
Gene Tree for ABI3BP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABI3BP: view image

Paralogs for ABI3BP Gene

Paralogs for ABI3BP Gene

(1) SIMAP similar genes for ABI3BP Gene using alignment to 23 proteins:

  • TARSH_HUMAN
  • B4DSV9_HUMAN
  • D3YTG3_HUMAN
  • E9PPR9_HUMAN
  • E9PRB5_HUMAN
  • H0Y897_HUMAN
  • H0YCG4_HUMAN
  • H0YCP4_HUMAN
  • H0YDN0_HUMAN
  • H0YDW0_HUMAN
  • H0YEA0_HUMAN
  • H0YEL2_HUMAN
  • H0YF18_HUMAN
  • H0YF57_HUMAN
  • H7C4H3_HUMAN
  • H7C4N5_HUMAN
  • H7C4S3_HUMAN
  • H7C4T1_HUMAN
  • H7C4X4_HUMAN
  • H7C524_HUMAN
  • H7C556_HUMAN
  • H7C5S3_HUMAN
  • L8EAT2_HUMAN
genes like me logo Genes that share paralogs with ABI3BP: view

Variants for ABI3BP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABI3BP Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
VAR_079855 - p.Asp670Gly

Additional dbSNP identifiers (rs#s) for ABI3BP Gene

Structural Variations from Database of Genomic Variants (DGV) for ABI3BP Gene

Variant ID Type Subtype PubMed ID
dgv182e55 CNV gain 17911159
dgv183e55 CNV gain 17911159
dgv819n67 CNV loss 20364138
dgv8480n54 CNV loss 21841781
dgv8481n54 CNV loss 21841781
esv21526 CNV loss 19812545
esv2308387 CNV deletion 18987734
esv2422136 CNV deletion 20811451
esv2534604 CNV deletion 19546169
esv2659333 CNV deletion 23128226
esv2668933 CNV deletion 23128226
esv2725700 CNV deletion 23290073
esv2759163 CNV loss 17122850
esv28693 CNV loss 19812545
esv3393889 CNV insertion 20981092
esv3562288 CNV deletion 23714750
esv3597180 CNV loss 21293372
esv3597183 CNV loss 21293372
esv5408 CNV loss 18987735
nsv10294 CNV loss 18304495
nsv3922 CNV deletion 18451855
nsv441834 CNV loss 18776908
nsv514163 CNV loss 21397061
nsv525082 CNV loss 19592680
nsv822202 CNV loss 20364138
nsv954333 CNV deletion 24416366

Variation tolerance for ABI3BP Gene

Residual Variation Intolerance Score: 89.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.16; 95.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABI3BP Gene

Human Gene Mutation Database (HGMD)
ABI3BP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABI3BP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABI3BP Gene

Disorders for ABI3BP Gene

MalaCards: The human disease database

(2) MalaCards diseases for ABI3BP Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
agnathia-otocephaly complex
  • agotc
mood disorder
  • episodic mood disorder
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TARSH_HUMAN
  • Note=Defects in ABI3BP has been found in a patient with isolated coloboma, a defect of the eye characterized by the absence of ocular structures due to abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Isolated colobomas may be associated with an abnormally small eye (microphthalmia) or small cornea. {ECO:0000269 PubMed:28493397}.

Additional Disease Information for ABI3BP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ABI3BP: view

No data available for Genatlas for ABI3BP Gene

Publications for ABI3BP Gene

  1. 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) 2 3 4
  2. Genome-wide association study of suicide attempts in mood disorder patients. (PMID: 21041247) Perlis RH … Smoller JW (The American journal of psychiatry 2010) 3 41
  3. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 41
  4. Cancer-associated loss of TARSH gene expression in human primary lung cancer. (PMID: 16205947) Terauchi K … Fushiki S (Journal of cancer research and clinical oncology 2006) 3 23
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for ABI3BP Gene

  • Signalway Proteins for ABI3BP

Sources for ABI3BP Gene