Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	321
Gene name	Amyloid beta precursor protein binding family A member 2
Gene symbol	APBA2
Synonyms (NCBI Gene)	D15S1518EHsT16821LIN-10MGC:14091MINT2X11-BETAX11L
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

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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

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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

MIM	HGNC	e!Ensembl
602712	579	ENSG00000034053

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

Interactions

View interactions

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
APBA2-related disorder	Likely benign; Benign	rs141358568, rs780969211, rs8032178, rs766483232, rs761106891, rs201879619, rs117098828, rs184776473, rs569262973, rs1213322606, rs372649988, rs151159537, rs138813322, rs752408604, rs199855567 View all (21 more)	RCV003904443 RCV003916786 RCV003973948 RCV003909832 RCV003944085 RCV003944150 RCV003917139 RCV003949634 RCV003944402 RCV003961951 RCV003924256 RCV003926810 RCV003926925 RCV003936853 RCV003942325 RCV003949239 RCV003947255 RCV003957313 RCV003971471 RCV003976597 RCV003925446 RCV003933284 RCV003915932 RCV003972948 RCV003943227 RCV003928459 RCV003916114 RCV003960797 RCV003955948 RCV003920704 RCV003930481 RCV003923073 RCV003950729 RCV003978049 RCV003926196 RCV003953328
Thymoma	Likely benign	rs761106891	RCV005933267

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	34092617
Adenoma	Associate	11549606, 12598316
Alzheimer Disease	Associate	12780348, 33398998, 33633844
Autism Spectrum Disorder	Associate	32081867
Borderline Personality Disorder	Associate	24367640
Color Vision Defects	Associate	23555287
Colorectal Neoplasms	Associate	11549606, 12569385, 18834226, 29869456, 34092617
Down Syndrome	Associate	33633844
Neoplasms	Associate	17510312, 18437011, 19223509, 21625944, 26098903
Neoplasms	Inhibit	20015385
Polyps	Associate	11839573
Uterine Cervical Neoplasms	Associate	16928264

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