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The protein encoded by this gene is a member of the IRS1-like multisubstrate docking protein family. It is an important mediator of branching tubulogenesis and plays a central role in cellular growth response, transformation and apoptosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] See more...
Aliases for GAB1 Gene
Aliases for GAB1 Gene
External Ids for GAB1 Gene
- HGNC: 4066
- NCBI Entrez Gene: 2549
- Ensembl: ENSG00000109458
- OMIM®: 604439
- UniProtKB/Swiss-Prot: Q13480
Previous HGNC Symbols for GAB1 Gene
- DFNB26
Previous GeneCards Identifiers for GAB1 Gene
- GC04P145054
- GC04P144619
- GC04P144724
- GC04P144835
- GC04P144615
- GC04P144477
- GC04P144257
- GC04P139987
Summaries for GAB1 Gene
-
The protein encoded by this gene is a member of the IRS1-like multisubstrate docking protein family. It is an important mediator of branching tubulogenesis and plays a central role in cellular growth response, transformation and apoptosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
GeneCards Summary for GAB1 Gene
GAB1 (GRB2 Associated Binding Protein 1) is a Protein Coding gene. Diseases associated with GAB1 include Deafness, Autosomal Recessive 26 and Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. Among its related pathways are RET signaling and Development EGFR signaling via small GTPases. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity and SH3/SH2 adaptor activity. An important paralog of this gene is GAB2.
UniProtKB/Swiss-Prot Summary for GAB1 Gene
-
Adapter protein that plays a role in intracellular signaling cascades triggered by activated receptor-type kinases. Plays a role in FGFR1 signaling. Probably involved in signaling by the epidermal growth factor receptor (EGFR) and the insulin receptor (INSR). Involved in the MET/HGF-signaling pathway (PubMed:29408807).
Additional gene information for GAB1 Gene
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GAB1 Gene
Genomics for GAB1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for GAB1 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 GAB1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GAB1
- Top Transcription factor binding sites by QIAGEN in the GAB1 gene promoter:
-
- AP-1
- ATF-2
- c-Jun
- STAT3
Genomic Locations for GAB1 Gene
Latest Assembly
- chr4:143,336,762-143,474,568
- (GRCh38/hg38)
- Size:
- 137,807 bases
- Orientation:
- Plus strand
Previous Assembly
- chr4:144,258,029-144,395,718
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 137,690 bases
- Orientation:
- Plus strand
Genomic View for GAB1 Gene
Genes around GAB1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4q31.21 by HGNC
- 4q31.21 by Entrez Gene
- 4q31.21 by Ensembl
GAB1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for GAB1 Gene
Proteins for GAB1 Gene
-
Protein details for GAB1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q13480-GAB1_HUMAN
- Recommended name:
- GRB2-associated-binding protein 1
- Protein Accession:
- Q13480
- A8K152
- Q4W5G2
- Q6P1W2
Protein attributes for GAB1 Gene
- Size:
- 694 amino acids
- Molecular mass:
- 76616 Da
- Quaternary structure:
-
- Interacts with GRB2 and with other SH2-containing proteins (PubMed:15010462). Interacts with phosphorylated LAT2 (PubMed:12486104). Interacts with PTPRJ (PubMed:12475979). Identified in a complex containing FRS2, GRB2, GAB1, PIK3R1 and SOS1. Interacts (phosphorylated) with PTPN11 (PubMed:15010462). Interacts with HCK (PubMed:15010462). Part of a tripartite complex containing GAB1, METTL13 and SPRY2 (PubMed:29408807). Interacts with METTL13 (PubMed:29408807).
Protein Expression for GAB1 Gene
Post-translational modifications for GAB1 Gene
- Phosphorylated in response to FGFR1 activation. Phosphorylated on tyrosine residue(s) by the epidermal growth factor receptor (EGFR) and the insulin receptor (INSR). Tyrosine phosphorylation of GAB1 mediates interaction with several proteins that contain SH2 domains. Phosphorylated on tyrosine residues by HCK upon IL6 signaling.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for GAB1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- Novus Biologicals Antibodies for GAB1
-
Abcam antibodies for GAB1
- Invitrogen Antibodies for GAB1 (AFLGC-GAB1)
- antibodies-online: Show 6 available GAB1 Antibodies ranked by validation data
-
Boster Bio Antibodies for GAB1
-
Santa Cruz Biotechnology (SCBT) Antibodies for GAB1
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for GAB1
- Origene Custom Protein Services for GAB1
- antibodies-online: Search results for available GAB1 related products ranked by validation data
-
Abcam proteins for GAB1
Assay products for research
- antibodies-online: Search results for available GAB1 related products ranked by validation data
No data available for DME Specific Peptides for GAB1 Gene
Domains & Families for GAB1 Gene
Gene Families for GAB1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for GAB1 Gene
- InterPro:
- Blocks:
-
- Pleckstrin-like
Suggested Antigen Peptide Sequences for GAB1 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ53999, highly similar to GRB2-associated-binding protein 1 (B7Z3B9_HUMAN)
- Growth factor receptor bound protein 2-associated protein 1 (GAB1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q13480- Family:
-
- Belongs to the GAB family.
Function for GAB1 Gene
Molecular function for GAB1 Gene
- UniProtKB/Swiss-Prot Function:
- Adapter protein that plays a role in intracellular signaling cascades triggered by activated receptor-type kinases. Plays a role in FGFR1 signaling. Probably involved in signaling by the epidermal growth factor receptor (EGFR) and the insulin receptor (INSR). Involved in the MET/HGF-signaling pathway (PubMed:29408807).
Phenotypes From GWAS Catalog for GAB1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 9658397 |
Phenotypes for GAB1 Gene
- MGI mutant phenotypes for GAB1:
-
inferred from 9 alleles
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cellular phenotype
- cardiovascular system phenotype
- behavior/neurological phenotype
- mortality/aging
- liver/biliary system phenotype
- digestive/alimentary phenotype
- vision/eye phenotype
- integument phenotype
- embryo phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for GAB1:
-
- Increased vaccinia virus (VACV) infection
- Decreased viability
- Reduced mammosphere formation
- no effect
- Inconclusive
- Increased transferrin (TF) endocytosis
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability in ovarian lineage
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Decreased West Nile virus (WNV) infection
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
- Decreased infection with West Nile virus (WNV)
- Decreased Dengue Infection
- Decreased epidermal growth factor receptor (EGFR) surface abundance
Animal Models for GAB1 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for GAB1 - Starting at $85 >
- * GAB1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for GAB1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GAB1
-
Santa Cruz Biotechnology (SCBT) CRISPR for GAB1
miRNA for GAB1 Gene
- miRTarBase miRNAs that target GAB1
-
- mmu-miR-34b-5p (MIRT012795)
- mmu-miR-149-5p (MIRT014555)
- hsa-miR-17-5p (MIRT031364)
- hsa-miR-181d-5p (MIRT041177)
- hsa-miR-20a-5p (MIRT164198)
- hsa-miR-93-5p (MIRT164200)
- hsa-miR-106b-5p (MIRT164203)
- hsa-miR-20b-5p (MIRT164206)
- hsa-miR-519d-3p (MIRT164212)
- hsa-miR-30a-5p (MIRT164233)
- hsa-miR-30c-5p (MIRT164234)
- hsa-miR-30d-5p (MIRT164235)
- hsa-miR-30b-5p (MIRT164236)
- hsa-miR-30e-5p (MIRT164237)
- mmu-miR-883a-3p (MIRT595995)
- mmu-miR-883b-3p (MIRT595996)
- mmu-miR-871-5p (MIRT595997)
- hsa-miR-409-3p (MIRT735159)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GAB1
- Browse OriGene Inhibitory RNA Products For GAB1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GAB1
Clone products for research
- Applied Biological Materials (abm): Clones for GAB1 - Starting at $45 >
- * GAB1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG210089
- MR210089
- MR210089L3
- MR210089L4
- MR230993
- RC209622
- RC209622L1
- RC209622L2
- RC209622L3
- RC209622L4
- RC219005
- RC219005L1
- RC219005L2
- RC219005L3
- RC219005L4
- RG209622
- RG219005
- RR207738
- RR207738L3
- RR207738L4
- MR210089L3V
- MR210089L4V
- RC209622L1V
- RC209622L2V
- RC209622L3V
- RC209622L4V
- RC219005L1V
- RC219005L2V
- RC219005L3V
- RC219005L4V
- RR207738L3V
- RR207738L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for GAB1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GAB1
Cell Lines for research
-
Horizon Cell Lines for GAB1
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GAB1 Gene
Localization for GAB1 Gene
| Compartment | Confidence |
|---|---|
| cytosol | 4 |
| plasma membrane | 2 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endosome | 1 |
| lysosome | 1 |
- Cytosol (2)
- Nucleoli fibrillar center (2)
- Plasma membrane (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005829 | cytosol | TAS | -- |
| GO:0005911 | cell-cell junction | IMP | 26706435 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for GAB1 Gene
Pathways & Interactions for GAB1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | RET signaling |
.92
.92
|
|
| 2 | Downstream signaling of activated FGFR2 | ||
| 3 | PI3K/AKT activation |
.89
|
|
| 4 | Development HGF signaling pathway |
Development HGF signaling pathway
.44
Development Neurotrophin family signaling
.44
Apoptosis and survival NGF signaling pathway
.36
|
|
| 5 | Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants | ||
Pathways by source for GAB1 Gene
2 Sino Biological pathways for GAB1 Gene
23 BioSystems pathways for GAB1 Gene
68 Reactome pathways for GAB1 Gene
10 KEGG pathways for GAB1 Gene
10 GeneGo (Thomson Reuters) pathways for GAB1 Gene
- Apoptosis and survival NGF signaling pathway
- Cell adhesion PLAU signaling
- Development EGFR signaling via PIP3
- Development FGF-family signaling
- Development FGFR signaling pathway
11 Qiagen pathways for GAB1 Gene
- Akt Signaling
- BDNF Pathway
- EGF Pathway
- ERK5 Signaling
- GDNF-Family Ligands and Receptor Interactions
1 Cell Signaling Technology pathway for GAB1 Gene
1 GeneTex pathway for GAB1 Gene
Interacting Proteins for GAB1 Gene
Selected Interacting proteins:
Q13480-GAB1_HUMAN
ENSP00000262995
for GAB1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for GAB1
SIGNOR curated interactions for GAB1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001525 | angiogenesis | IMP | 17178724 |
| GO:0007173 | epidermal growth factor receptor signaling pathway | TAS | -- |
| GO:0007411 | axon guidance | TAS | -- |
| GO:0008286 | insulin receptor signaling pathway | TAS | 8596638 |
| GO:0014068 | positive regulation of phosphatidylinositol 3-kinase signaling | TAS | -- |
Transcripts for GAB1 Gene
mRNA/cDNA for GAB1 Gene
- 2 REFSEQ mRNAs :
- 12 NCBI additional mRNA sequence :
- 14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000262994 2648 nts (view in UCSC)
- ENST00000262995 7981 nts (view in UCSC)
- ENST00000505913 2477 nts (view in UCSC)
- ENST00000507070 677 nts (view in UCSC)
- ENST00000507334 559 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for GAB1 - Starting at $85 >
- * GAB1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for GAB1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GAB1
-
Santa Cruz Biotechnology (SCBT) CRISPR for GAB1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GAB1
- Browse OriGene Inhibitory RNA Products For GAB1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GAB1
Clone products for research
- Applied Biological Materials (abm): Clones for GAB1 - Starting at $45 >
- * GAB1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG210089
- MR210089
- MR210089L3
- MR210089L4
- MR230993
- RC209622
- RC209622L1
- RC209622L2
- RC209622L3
- RC209622L4
- RC219005
- RC219005L1
- RC219005L2
- RC219005L3
- RC219005L4
- RG209622
- RG219005
- RR207738
- RR207738L3
- RR207738L4
- MR210089L3V
- MR210089L4V
- RC209622L1V
- RC209622L2V
- RC209622L3V
- RC209622L4V
- RC219005L1V
- RC219005L2V
- RC219005L3V
- RC219005L4V
- RR207738L3V
- RR207738L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for GAB1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GAB1
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||||||
| SP2: | - | - | - | - | |||||||||||||||||||||||||||
| SP3: |
Relevant External Links for GAB1 Gene
- GeneLoc Exon Structure for
- GAB1
Expression for GAB1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Skeletal Muscle (Muscoskeletal System)
- Muscle Progenitor Cells Tongue Muscles
- Limb Muscle Progenitor Cells Hindlimb Myotome
- Limb Muscle Progenitor Cells Forelimb Myotome
-
Limb (Muscoskeletal System)
- Limb Muscle Progenitor Cells Hindlimb Myotome
- Limb Muscle Progenitor Cells Forelimb Myotome
-
Brain (Nervous System)
- Myelinating Oligodendrocyte Cells Forebrain White Matter
-
Glial Cells
- Myelinating Oligodendrocyte Cells Forebrain White Matter
-
Somite (Muscoskeletal System)
- Muscle Progenitor Cells Tongue Muscles
This gene is overexpressed in Fetal Brain (14.1), Gallbladder (13.2), and Testis (6.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GAB1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GAB1
SOURCE GeneReport for Unigene cluster for GAB1 Gene:
Hs.80720Evidence on tissue expression from TISSUES for GAB1 Gene
- Nervous system(4.9)
- Heart(2.3)
- Muscle(2.3)
Primer products for research
-
OriGene qPCR primer pairs for GAB1
-
OriGene qPCR primer pairs and template standards for GAB1
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GAB1 Gene
Orthologs for GAB1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | GAB1 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | GAB1 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | GAB1 29 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | GAB1 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | GAB1 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Gab1 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Gab1 29 |
|
||
| Chicken (Gallus gallus) |
Aves | GAB1 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | GAB1 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gab1 29 |
|
||
| Str.956 29 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.7533 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | gab1 29 30 |
|
OneToOne | |
| Dr.17509 29 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | dos 30 |
|
OneToMany |
- Species where no ortholog for GAB1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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 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)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for GAB1 Gene
- ENSEMBL:
- Gene Tree for GAB1 (if available)
- TreeFam:
- Gene Tree for GAB1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for GAB1: view image
- Alliance of Genome Resources:
- Additional Orthologs for GAB1
Paralogs for GAB1 Gene
Variants for GAB1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GAB1 Gene
| SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs155395063 | Deafness, autosomal recessive, 26 (DFNB26) [MIM:605428] |
p.Gly116Glu |
|||
| rs1553950635 | Pathogenic: Deafness, autosomal recessive 26 | 143,415,751(+) |
G/A NM_002039.4(GAB1):c.347G>A (p.Gly116Glu) |
MISSENSE | |
| VAR_036132 | A breast cancer sample |
p.Tyr83Cys |
|||
| VAR_036133 | A breast cancer sample |
p.Thr387Asn |
|||
| rs2229879 | -- |
p.Thr377Ile |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv5411n100 | CNV | gain | 25217958 |
| esv2576302 | CNV | deletion | 19546169 |
| esv2759288 | CNV | gain+loss | 17122850 |
| esv3602506 | CNV | loss | 21293372 |
| esv3602508 | CNV | loss | 21293372 |
| nsv1018566 | CNV | loss | 25217958 |
| nsv1019980 | CNV | gain | 25217958 |
| nsv1026110 | CNV | gain | 25217958 |
| nsv1033902 | CNV | gain | 25217958 |
| nsv1123852 | CNV | deletion | 24896259 |
| nsv437941 | CNV | loss | 16468122 |
| nsv830103 | CNV | loss | 17160897 |
| nsv964100 | CNV | duplication | 23825009 |
| nsv980261 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
21.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.01;
37.03% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for GAB1 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GAB1 Gene
Disorders for GAB1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| deafness, autosomal recessive 26 |
|
|
| autosomal recessive non-syndromic sensorineural deafness type dfnb |
|
|
| breast cancer |
|
|
| hepatocellular carcinoma |
|
|
| rasopathy |
|
|
Search GAB1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
GAB1_HUMAN- Deafness, autosomal recessive, 26 (DFNB26) [MIM:605428]: A form of non-syndromic sensorineural deafness characterized by prelingual, severe to profound hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:29408807}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for GAB1
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for GAB1 Gene
Publications for GAB1 Gene
- Modifier variant of METTL13 suppresses human GAB1-associated profound deafness. (PMID: 29408807) Yousaf R … Riazuddin S (The Journal of clinical investigation 2018) 2 3 4 72
- A Grb2-associated docking protein in EGF- and insulin-receptor signalling. (PMID: 8596638) Holgado-Madruga M … Wong AJ (Nature 1996) 2 3 4 22
- Grb2-associated binder 1 polymorphism was associated with the risk of Helicobactor pylori infection and gastric atrophy. (PMID: 17211494) Goto Y … Hamajima N (International journal of medical sciences 2006) 3 22 40
- Critical role for hematopoietic cell kinase (Hck)-mediated phosphorylation of Gab1 and Gab2 docking proteins in interleukin 6-induced proliferation and survival of multiple myeloma cells. (PMID: 15010462) Podar K … Anderson KC (The Journal of biological chemistry 2004) 3 4 22
- Hepatocyte growth factor receptor tyrosine kinase met is a substrate of the receptor protein-tyrosine phosphatase DEP-1. (PMID: 12475979) Palka HL … Tonks NK (The Journal of biological chemistry 2003) 3 4 22
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Products for GAB1 Gene
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