ABI3 (ABI family member 3)

Gene

• Entrez ID: 51225
• Gene name: ABI family member 3
• Gene symbol: ABI3
• Synonyms (NCBI Gene): NESH, SSH3BP3
• 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

miRTarBase ID	miRNA	Experiments	Reference
MIRT037451	hsa-miR-744-5p	CLASH	23622248

Gene ontology (GO)

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
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	11956071
GO:0010593	Process	Negative regulation of lamellipodium assembly	IEA
GO:0010593	Process	Negative regulation of lamellipodium assembly	ISS
GO:0014069	Component	Postsynaptic density	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IDA	17101133
GO:0030027	Component	Lamellipodium	IBA
GO:0030027	Component	Lamellipodium	IDA	17101133
GO:0030027	Component	Lamellipodium	IEA
GO:0030036	Process	Actin cytoskeleton organization	ISS
GO:0030334	Process	Regulation of cell migration	IBA
GO:0030334	Process	Regulation of cell migration	IDA	11956071
GO:0031209	Component	SCAR complex	IBA
GO:0031209	Component	SCAR complex	IDA	17101133, 26428302
GO:0031209	Component	SCAR complex	IEA
GO:0035591	Function	Signaling adaptor activity	IBA
GO:0042802	Function	Identical protein binding	IPI	25416956, 32296183
GO:0043197	Component	Dendritic spine	ISS
GO:0043198	Component	Dendritic shaft	ISS
GO:0048858	Process	Cell projection morphogenesis	IBA
GO:0051015	Function	Actin filament binding	ISS
GO:0061001	Process	Regulation of dendritic spine morphogenesis	ISS
GO:0098794	Component	Postsynapse	IEA
GO:0098858	Component	Actin-based cell projection	IBA
GO:0098885	Process	Modification of postsynaptic actin cytoskeleton	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099151	Process	Regulation of postsynaptic density assembly	ISS
GO:1900028	Process	Negative regulation of ruffle assembly	NAS	18480067
GO:1903077	Process	Negative regulation of protein localization to plasma membrane	IEA
GO:1903077	Process	Negative regulation of protein localization to plasma membrane	ISS
GO:2000774	Process	Positive regulation of cellular senescence	IMP	21223585

Other IDs

• MIM: 606363
• HGNC: 29859
• e!Ensembl: ENSG00000108798

Protein

• 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

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early-onset dementia of unclear type	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Confusional Senile Dementia	Senile Dementia	CTD_human_DG	28714976		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	28714976, 30326945, 32894242, 33092647, 33152005	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Early Onset	Alzheimer disease	CTD_human_DG	28714976		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	CTD_human_DG	28714976		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	CTD_human_DG	28714976		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease, Focal Onset	Alzheimer disease	CTD_human_DG	28714976		★☆☆☆☆ Found in Text Mining only
Angina Pectoris	Angina pectoris	Pubtator	33152005	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	33152005	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	33152005	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	21223585		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16205947		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	21223585		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	33152005	Associate	★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	CTD_human_DG	28714976		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	27036019		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	33152005	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	38162649	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	33152005	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31127786		★☆☆☆☆ Found in Text Mining only
Lafora Disease	Lafora disease	Pubtator	33092647	Associate	★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	30326945		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16205947		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21223585		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	31127786		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	33152005	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19897574, 21223585, 27036019		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	30326945	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30326945		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	CTD_human_DG	28714976		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	27036019		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	18559958, 21223585		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	27036019	Inhibit	★☆☆☆☆ Found in Text Mining only