Aliases for GAB4 Gene

Aliases for GAB4 Gene

  • GRB2 Associated Binding Protein Family Member 4 2 3 5
  • Growth Factor Receptor Bound Protein 2-Associated Protein 4 3 4
  • GRB2-Associated-Binding Protein 4 3 4
  • GRB2-Associated Binder 4 3 4
  • GRB2-Associated Binding Protein Family, Member 4 2
  • GRB2-Associated-Binding Protein 2-Like 4
  • GRB2-Associated Binder 2-Like Protein 3
  • GRB2-Associated Binder 2-Like 4
  • GAB2-Like 4
  • GAB4 5

External Ids for GAB4 Gene

Previous GeneCards Identifiers for GAB4 Gene

  • GC22U900278
  • GC22M015822
  • GC22M017442
  • GC22M001262

Summaries for GAB4 Gene

GeneCards Summary for GAB4 Gene

GAB4 (GRB2 Associated Binding Protein Family Member 4) is a Protein Coding gene. Diseases associated with GAB4 include Cat Eye Syndrome. An important paralog of this gene is GAB2.

Additional gene information for GAB4 Gene

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 GAB4 Gene

Genomics for GAB4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GAB4 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
GH22J016954 Enhancer 0.4 Ensembl 18.7 +52.4 52381 1.8 ZNF341 EGR2 ZFHX2 NFIC GAB4 ENSG00000285045 MK280144-446 lnc-GAB4-5 XKR3
GH22J016933 Enhancer 0.3 Ensembl 27.5 +74.4 74445 0.9 ZIC2 IGKV1OR22-1 lnc-GAB4-1 GAB4 CECR2 HSALNG0133843 XKR3
GH22J017410 Enhancer 0.7 Ensembl ENCODE 9.8 -403.8 -403820 3 SP7 ZSCAN21 ZEB2 PRDM10 ZNF670 ZFHX2 ZNF121 ZNF580 RF00017-3741 hsa-miR-5095-328 CECR2 GAB4 SLC25A18
GH22J016917 Enhancer 0.6 ENCODE 11.4 +90.7 90655 0.2 CTCF REST TRIM22 SMC3 RAD21 ZNF143 CREM ATF1 ATF7 ZNF654 GAB4 XKR3 HSFY1P1 IGKV2OR22-4 MK280144-445 lnc-IL17RA-13
GH22J017045 Enhancer 0.4 Ensembl 11.7 -39.1 -39120 2.8 ESRRA ZMYM3 CEBPB piR-51863 CECR7 ENSG00000273203 GAB4 piR-30164 IL17RA
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GAB4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GAB4

Top Transcription factor binding sites by QIAGEN in the GAB4 gene promoter:
  • AREB6
  • CUTL1
  • GATA-1
  • LCR-F1
  • MyoD
  • PPAR-gamma1
  • PPAR-gamma2
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for GAB4 Gene

Latest Assembly
chr22:16,961,936-17,008,281
(GRCh38/hg38)
Size:
46,346 bases
Orientation:
Minus strand

Previous Assembly
chr22:17,442,826-17,489,112
(GRCh37/hg19 by Entrez Gene)
Size:
46,287 bases
Orientation:
Minus strand

chr22:17,442,826-17,489,112
(GRCh37/hg19 by Ensembl)
Size:
46,287 bases
Orientation:
Minus strand

Genomic View for GAB4 Gene

Genes around GAB4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GAB4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GAB4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GAB4 Gene

Proteins for GAB4 Gene

  • Protein details for GAB4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2WGN9-GAB4_HUMAN
    Recommended name:
    GRB2-associated-binding protein 4
    Protein Accession:
    Q2WGN9

    Protein attributes for GAB4 Gene

    Size:
    574 amino acids
    Molecular mass:
    62367 Da
    Quaternary structure:
    No Data Available

neXtProt entry for GAB4 Gene

Post-translational modifications for GAB4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GAB4 Gene

Domains & Families for GAB4 Gene

Gene Families for GAB4 Gene

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

Protein Domains for GAB4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GAB4 Gene

GenScript: Design optimal peptide antigens:
  • Growth factor receptor bound protein 2-associated protein 4 (GAB4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q2WGN9

UniProtKB/Swiss-Prot:

GAB4_HUMAN :
  • Belongs to the GAB family.
Family:
  • Belongs to the GAB family.
genes like me logo Genes that share domains with GAB4: view

Function for GAB4 Gene

Phenotypes From GWAS Catalog for GAB4 Gene

Phenotypes for GAB4 Gene

genes like me logo Genes that share phenotypes with GAB4: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GAB4

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for GAB4 Gene

Localization for GAB4 Gene

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 GAB4 gene
Compartment Confidence
cytosol 2
endoplasmic reticulum 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for GAB4 Gene

Pathways & Interactions for GAB4 Gene

PathCards logo

SuperPathways for GAB4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GAB4 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for GAB4 Gene

Drugs & Compounds for GAB4 Gene

No Compound Related Data Available

Transcripts for GAB4 Gene

mRNA/cDNA for GAB4 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GAB4

Alternative Splicing Database (ASD) splice patterns (SP) for GAB4 Gene

No ASD Table

Relevant External Links for GAB4 Gene

GeneLoc Exon Structure for
GAB4

Expression for GAB4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GAB4 Gene

mRNA differential expression in normal tissues according to GTEx for GAB4 Gene

This gene is overexpressed in Testis (x37.9) and Nerve - Tibial (x4.2).

Protein differential expression in normal tissues from HIPED for GAB4 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GAB4 Gene



Protein tissue co-expression partners for GAB4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GAB4

SOURCE GeneReport for Unigene cluster for GAB4 Gene:

Hs.434113
genes like me logo Genes that share expression patterns with GAB4: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for GAB4 Gene

Orthologs for GAB4 Gene

This gene was present in the common ancestor of animals.

Orthologs for GAB4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GAB4 30 31
  • 97.27 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gab2 31
  • 47 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia GAB4 31
  • 47 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 43 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 20 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 41 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii gab2 31
  • 36 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta dos 31
  • 12 (a)
OneToMany
Species where no ortholog for GAB4 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)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Dog (Canis familiaris)
  • 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)
  • 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 GAB4 Gene

ENSEMBL:
Gene Tree for GAB4 (if available)
TreeFam:
Gene Tree for GAB4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GAB4: view image

Paralogs for GAB4 Gene

Paralogs for GAB4 Gene

(2) SIMAP similar genes for GAB4 Gene using alignment to 2 proteins:

  • GAB4_HUMAN
  • H0YB31_HUMAN
genes like me logo Genes that share paralogs with GAB4: view

Variants for GAB4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GAB4 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs11703655 - p.Leu273Pro

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GAB4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for GAB4 Gene

Variant ID Type Subtype PubMed ID
dgv4460n100 CNV gain 25217958
dgv4463n100 CNV gain 25217958
esv1004225 CNV deletion 20482838
esv2763696 CNV gain 21179565
esv3575406 CNV gain 25503493
esv3647204 CNV gain 21293372
nsv1064641 CNV gain 25217958
nsv1067241 CNV loss 25217958
nsv527637 CNV gain 19592680
nsv588077 CNV gain 21841781

Variation tolerance for GAB4 Gene

Residual Variation Intolerance Score: 67.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.98; 96.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GAB4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GAB4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GAB4 Gene

Disorders for GAB4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GAB4 Gene - From: CVR

Disorder Aliases PubMed IDs
cat eye syndrome
  • ces
- elite association - COSMIC cancer census association via MalaCards
Search GAB4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GAB4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GAB4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GAB4 Gene

Publications for GAB4 Gene

  1. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 41
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3

Products for GAB4 Gene

Sources for GAB4 Gene