APBA2 (amyloid beta precursor protein binding family A member 2)

Gene

• Entrez ID: 321
• Gene name: Amyloid beta precursor protein binding family A member 2
• Gene symbol: APBA2
• Synonyms (NCBI Gene): D15S1518E, HsT16821, LIN-10, MGC:14091, MINT2, X11-BETA, X11L
• Chromosome: 15
• Chromosome location: 15q13.1
• Summary: The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer`s disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments in

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019347	hsa-miR-148b-3p	Microarray	17612493
MIRT039930	hsa-miR-615-3p	CLASH	23622248
MIRT788736	hsa-miR-1253	CLIP-seq
MIRT788737	hsa-miR-1909	CLIP-seq
MIRT788738	hsa-miR-198	CLIP-seq
MIRT788739	hsa-miR-3613-3p	CLIP-seq
MIRT788740	hsa-miR-3922-5p	CLIP-seq
MIRT788741	hsa-miR-3926	CLIP-seq
MIRT788742	hsa-miR-3944-5p	CLIP-seq
MIRT788743	hsa-miR-4270	CLIP-seq
MIRT788744	hsa-miR-4434	CLIP-seq
MIRT788745	hsa-miR-4441	CLIP-seq
MIRT788746	hsa-miR-4516	CLIP-seq
MIRT788747	hsa-miR-455-3p	CLIP-seq
MIRT788748	hsa-miR-4640-5p	CLIP-seq
MIRT788749	hsa-miR-4726-5p	CLIP-seq
MIRT788750	hsa-miR-661	CLIP-seq
MIRT2172904	hsa-miR-1264	CLIP-seq
MIRT2172905	hsa-miR-134	CLIP-seq
MIRT2172906	hsa-miR-1827	CLIP-seq
MIRT2172907	hsa-miR-22	CLIP-seq
MIRT2172908	hsa-miR-2467-3p	CLIP-seq
MIRT2172909	hsa-miR-3118	CLIP-seq
MIRT2172910	hsa-miR-3121-5p	CLIP-seq
MIRT2172911	hsa-miR-3161	CLIP-seq
MIRT2172912	hsa-miR-3164	CLIP-seq
MIRT2172913	hsa-miR-320a	CLIP-seq
MIRT2172914	hsa-miR-320b	CLIP-seq
MIRT2172915	hsa-miR-320c	CLIP-seq
MIRT2172916	hsa-miR-320d	CLIP-seq
MIRT2172917	hsa-miR-3617	CLIP-seq
MIRT2172918	hsa-miR-3657	CLIP-seq
MIRT2172919	hsa-miR-3685	CLIP-seq
MIRT2172920	hsa-miR-4429	CLIP-seq
MIRT2172921	hsa-miR-4522	CLIP-seq
MIRT2172922	hsa-miR-4677-3p	CLIP-seq
MIRT2172923	hsa-miR-4679	CLIP-seq
MIRT2172924	hsa-miR-4697-3p	CLIP-seq
MIRT2172925	hsa-miR-4793-5p	CLIP-seq
MIRT2172926	hsa-miR-483-3p	CLIP-seq
MIRT2172927	hsa-miR-495	CLIP-seq
MIRT2172928	hsa-miR-520d-5p	CLIP-seq
MIRT2172929	hsa-miR-524-5p	CLIP-seq
MIRT2172930	hsa-miR-548u	CLIP-seq
MIRT2172931	hsa-miR-641	CLIP-seq
MIRT2172932	hsa-miR-890	CLIP-seq
MIRT2172906	hsa-miR-1827	CLIP-seq
MIRT2384303	hsa-miR-3665	CLIP-seq
MIRT2384304	hsa-miR-3934	CLIP-seq
MIRT2384305	hsa-miR-4736	CLIP-seq
MIRT2384306	hsa-miR-940	CLIP-seq
MIRT2675129	hsa-miR-3688-5p	CLIP-seq
MIRT2675130	hsa-miR-4470	CLIP-seq
MIRT2172932	hsa-miR-890	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001540	Function	Amyloid-beta binding	IBA
GO:0001701	Process	In utero embryonic development	IEA
GO:0005515	Function	Protein binding	IPI	10833507, 17332754, 28514442, 29578633, 31413325, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IBA
GO:0005886	Component	Plasma membrane	IBA
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007399	Process	Nervous system development	TAS	9890987
GO:0007626	Process	Locomotory behavior	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0015031	Process	Protein transport	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0042802	Function	Identical protein binding	IPI	29578633
GO:0043197	Component	Dendritic spine	IBA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098793	Component	Presynapse	IEA
GO:0099171	Process	Presynaptic modulation of chemical synaptic transmission	IEA

Other IDs

• MIM: 602712
• HGNC: 579
• e!Ensembl: ENSG00000034053

Protein

• UniProt ID: Q99767
• Protein name: Amyloid-beta A4 precursor protein-binding family A member 2 (Adapter protein X11beta) (Neuron-specific X11L protein) (Neuronal Munc18-1-interacting protein 2) (Mint-2)
• Protein function: Putative function in synaptic vesicle exocytosis by binding to STXBP1, an essential component of the synaptic vesicle exocytotic machinery. May modulate processing of the amyloid-beta precursor protein (APP) and hence formation of APP-beta.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00640	PID	372 → 530	Phosphotyrosine interaction domain (PTB/PID)	Domain
  PF00595	PDZ	568 → 652	PDZ domain	Domain
  PF00595	PDZ	659 → 732	PDZ domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Brain.
• Sequence:

  MAHRKLESVGSGMLDHRVRPGPVPHSQEPESEDMELPLEGYVPEGLELAALRPESPAPEE
  QECHNHSPDGDSSSDYVNNTSEEEDYDEGLPEEEEGITYYIRYCPEDDSYLEGMDCNGEE
  YLAHSAHPVDTDECQEAVEEWTDSAGPHPHGHEAEGSQDYPDGQLPIPEDEPSVLEAHDQ
  EEDGHYCASKEGYQDYYPEEANGNTGASPYRLRRGDGDLEDQEEDIDQIVAEIKMSLSMT
  SITSASEASPEHGPEPGPEDSVEACPPIKASCSPSRHEARPKSLNLLPEAKHPGDPQRGF
  KPKTRTPEERLKWPHEQVCNGLEQPRKQQRSDLNGPVDNNNIPETKKVASFPSFVAVPGP
  CEPEDLIDGIIFAANYLGSTQLLSERNPSKNIRMMQAQEAVSRVKRMQKAAKIKKKANSE
  GDAQTLTEVDLFISTQRIKVLNADTQETMMDHALRTISYIADIGNIVVLMARRRMPRSAS
  QDCIETTPGAQEGKKQYKMICHVFESEDAQLIAQSIGQAFSVAYQEFLRANGINPEDLSQ
  KEYSDIINTQEMYNDDLIHFSNSENCKELQLEKHKGEILGVVVVESGWGSILPTVILANM
  MNGGPAARSGKLSIGDQIMSINGTSLVGLPLATCQGIIKGLKNQTQVKLNIVSCPPVTTV
  LIKRPDLKYQLGFSVQNGIICSLMRGGIAERGGVRVGHRIIEINGQSVVATAHEKIVQAL
  SNSVGEIHMKTMPAAMFRLLTGQETPLYI

• Sequence length: 749

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
APBA2-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATOLOGIC DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SAPHO SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASES, GENETIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	15064707		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	12598316		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	17620311, 21836485		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	12780348, 33398998, 33633844	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	32081867	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	20029827, 30357341, 30988517		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	20029827		★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	24367640		★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	Pubtator	24367640	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10766168, 15701853, 23073987		★☆☆☆☆ Found in Text Mining only
Color Vision Defects	Color vision deficiency	Pubtator	23555287	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	11549606, 12427779, 21625944		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	11549606, 12569385, 18834226, 29869456, 34092617	Associate	★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	CTD_human_DG	28720099		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Down Syndrome	Down syndrome	Pubtator	33633844	Associate	★☆☆☆☆ Found in Text Mining only
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1	Ectrodactyly	BEFREE	20015385		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29753047		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastritis, Atrophic	Gastritis	BEFREE	24385013		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	18271923		★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	23076970		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29073110		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	21625944		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24385013		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11549606		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12000733, 17087942, 18437011, 20015385, 24385013		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	30357341		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	17989066		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	17989066		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	17989066		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Senile Plaques	Senile Plaques	BEFREE	10336668		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	11891177, 24385013		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	16928264	Associate	★☆☆☆☆ Found in Text Mining only