Gene Gene information from NCBI Gene database.
Entrez ID 139716
Gene name GRB2 associated binding protein 3
Gene symbol GAB3
Synonyms (NCBI Gene)
-
Chromosome X
Chromosome location Xq28
Summary This gene is a member of the GRB2-associated binding protein gene family. These proteins are scaffolding/docking proteins that are involved in several growth factor and cytokine signaling pathways, and they contain a pleckstrin homology domain, and bind S
miRNA miRNA information provided by mirtarbase database.
151
miRTarBase ID miRNA Experiments Reference
MIRT018672 hsa-miR-335-5p Microarray 18185580
MIRT022935 hsa-miR-124-3p Microarray 18668037
MIRT1009315 hsa-miR-1260 CLIP-seq
MIRT1009316 hsa-miR-1260b CLIP-seq
MIRT1009317 hsa-miR-1286 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IBA
GO:0007165 Process Signal transduction IBA
GO:0030225 Process Macrophage differentiation IEA
GO:0035591 Function Signaling adaptor activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300482 17515 ENSG00000160219
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WWW8
Protein name GRB2-associated-binding protein 3 (GRB2-associated binder 3) (Growth factor receptor bound protein 2-associated protein 3)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00169 PH 6 117 PH domain Domain
Sequence
MSAGDAVCTGWLVKSPPERKLQRYAWRKRWFVLRRGRMSGNPDVLEYYRNKHSSKPIRVI
DLSECAVWKHVGPSFVRKEFQNNFVFIVKTTSRTFYLVAKTEQEMQVWVHSISQVCN
LGH
LEDGADSMESLSYTPSSLQPSSASSLLTAHAASSSLPRDDPNTNAVATEETRSESELLFL
PDYLVLSNCETGRLHHTSLPTRCDSWSNSDRSLEQASFDDVFVDCLQPLPSSHLVHPSCH
GSGAQEVPSSRPQAALIWSREINGPPRDHLSSSPLLESSLSSTIQVDKNQGSLPCGAKEL
DIMSNTPPPRPPKPSHLSERRQEEWSTHSGSKKPECTLVPRRISLSGLDNMRTWKADVEG
QSLRHRDKRLSLNLPCRFSPMYPTASASIEDSYVPMSPQAGASGLGPHCSPDDYIPMNSG
SISSPLPELPANLEPPPVNRDLKPQRKSRPPPLDLRNLSIIREHASLTRTRTVPCSRTSF
LSPERNGINSARFFANPVSREDEESYIEMEEHRTASSLSSGALTWTKKFSLDYLALDFNS
ASPAPMQQKLLLSEEQRVDYVQVDEQKTQALQSTKQEWTDERQSKV
Sequence length 586
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
TYPE 1 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Colitis Colitis BEFREE 30936879
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 28115166
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent Diabetes Mellitus GWASCAT_DG 19430480
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent Diabetes Mellitus GWASDB_DG 19430480
★☆☆☆☆
Found in Text Mining only
Essential Hypertension Hypertension Pubtator 40140746 Associate
★☆☆☆☆
Found in Text Mining only
Glioma Glioma BEFREE 28291820
★☆☆☆☆
Found in Text Mining only
HEMOCHROMATOSIS, TYPE 1 Hemochromatosis BEFREE 28334935
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 28291820
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 28115166, 28291820
★☆☆☆☆
Found in Text Mining only
Urinary Bladder Neoplasms Urinary bladder neoplasms Pubtator 36275756 Associate
★☆☆☆☆
Found in Text Mining only