ABI3 (ABI family member 3)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 51225
Gene name ABI family member 3
Gene symbol ABI3
Synonyms (NCBI Gene)
NESHSSH3BP3
Chromosome 17
Chromosome location 17q21.32
Summary 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.
1
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
606363 29859 ENSG00000108798
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (6)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs2233370 RCV005904956
Cervical cancer Benign rs2233370 RCV005904958
Early-onset dementia of unclear type Uncertain significance rs202087269 RCV001090103
Lung cancer Uncertain significance; Benign rs369657954, rs2233370 RCV005932498
RCV005904960
Show/Hide Text Mining Associations (16)
Associations from Text MiningDisease 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