ABI3 (ABI family member 3)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51225
Gene name Gene Name - the full gene name approved by the HGNC.
ABI family member 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ABI3
Synonyms (NCBI Gene) Gene synonyms aliases
NESH, SSH3BP3
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.32
Summary Summary of gene provided in NCBI Entrez 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 po
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT037451 hsa-miR-744-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(37)
GO ID Ontology Definition Evidence Reference
GO:0001764 Process Neuron migration IBA
GO:0002357 Process Defense response to tumor cell IEA
GO:0002357 Process Defense response to tumor cell IMP 21223585
GO:0005515 Function Protein binding IPI 16189514, 17101133, 19060904, 21516116, 25416956, 29892012, 32296183
GO:0005737 Component Cytoplasm IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
606363 29859 ENSG00000108798
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9P2A4
Protein name ABI gene family member 3 (New molecule including SH3) (Nesh)
Protein function May inhibit tumor metastasis (By similarity). In vitro, reduces cell motility.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07815 Abi_HHR 93 → 169 Abl-interactor HHR Family
PF14604 SH3_9 315 → 363 Variant SH3 domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in heart, lung, liver, pancreas, kidney, placenta and at low levels in brain and skeletal muscle. {ECO:0000269|PubMed:10978530}.
Sequence 
MAELQQLQEFEIPTGREALRGNHSALLRVADYCEDNYVQATDKRKALEETMAFTTQALAS
VAYQVGNLAGHTLRMLDLQGAALRQVEARVSTLGQMVNMHMEKVARREIGTLATVQRLPP
GQKVIAPENLPPLTPYCRRPLNFGCLDDIGHGIKDLSTQLSRTGTLSRKSIKAPATPASA
TLGRPPRIPEPVHLPVVPDGRLSAASSAFSLASAGSAEGVGGAPTPKGQAAPPAPPLPSS
LDPPPPPAAVEVFQRPPTLEELSPPPPDEELPLPLDLPPPPPLDGDELGLPPPPPGFGPD
EPSWVPASYLEKVVTLYPYTSQKDNELSFSEGTVICVTRRYSDGWCEGVSSEGTGFFPGN
YVEPSC
Sequence length 366
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or gastroesophageal reflux disease N/A N/A GWAS
Myocardial Infarction Myocardial infarction N/A N/A GWAS
Show/Hide Text Mining Associations (16)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Follicular Inhibit 27036019
Alzheimer Disease Associate 28714976, 30326945, 32894242, 33092647, 33152005
Angina Pectoris Associate 33152005
Asthma Associate 33152005
Autoimmune Diseases Associate 33152005
Coronary Artery Disease Associate 33152005
Frontotemporal Dementia Associate 33152005
Glioma Associate 38162649
Hypertension Associate 33152005
Lafora Disease Associate 33092647