APBA2 amyloid beta (A4) precursor protein-binding, family A, member 2 [Homo sapiens] - Gene

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Summary

Official Symbol: APBA2provided by HGNC
Official Full Name: amyloid beta (A4) precursor protein-binding, family A, member 2provided by HGNC
Primary source: HGNC:579
See related: Ensembl:ENSG00000034053; HPRD:04090; MIM:602712; Vega:OTTHUMG00000129255
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: X11L; MINT2; LIN-10; HsT16821; X11-BETA; D15S1518E; MGC:14091
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 including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 15q11-q12

Sequence :: Chromosome: 15; NC_000015.9 (29213840..29410518)

See APBA2 in Epigenomics, MapViewer

Chromosome 15 - NC_000015.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
The co-occurrence of two nonsynonymous mutations in both affected siblings in a single family, each transmitted from a different unaffected parent, suggest a role for APBA2 mutations in rare individuals with ASD.
Title: Copy number and sequence variants implicate APBA2 as an autism candidate gene.
APBA2 were genes activated in early endometrial endometrioid carcinoma (stages I-II).
Title: Increased epithelial stem cell traits in advanced endometrial endometrioid carcinoma.
X11beta-mediated reduction in cerebral Abeta is associated with cognition and long-term potentiation in Alzheimer's disease APPswe transgenic mice.
Title: X11beta rescues memory and long-term potentiation deficits in Alzheimer's disease APPswe Tg2576 mice.
Interaction of transcriptional coactivators with Mint1 or Mint2 prevents nuclear localization and transactivation of the transduction network mediated by amyloid precursor protein.
Title: Novel mediators of amyloid precursor protein signaling.
Observational study of gene-disease association. (HuGE Navigator)
Title: Copy number and sequence variants implicate APBA2 as an autism candidate gene.
Phosphorylation of amino acids Ser236 and Ser238 in the X11L regulatory region are critical for increasing association of X11L and amyloid beta-protein precursor and are conserved in X11, a neuronal X11 family protein, but not in non-neuronal X11L2.
Title: Phosphorylation of the amino-terminal region of X11L regulates its interaction with APP.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: A genome-wide investigation of SNPs and CNVs in schizophrenia.
Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia.
Title: Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia.
The APBA2 gene has been found to map to a more telomeric location in chromosome 15q13 than previously found, and is partially duplicated within the broader region located approximately 5 Mb distal to the intact locus.
Title: Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structures.

Submit: New GeneRIF Correction See all (13)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
Q99767	P05067	APP	HPRD	PubMed
Q99767	O94985	CLSTN1	HPRD	PubMed
Q99767	Q9BQT9	CLSTN3	HPRD	PubMed
Q99767	Q07954	LRP1	HPRD	PubMed
Q99767	P98164	LRP2	HPRD	PubMed
Q99767	Q96P71	NECAB3	HPRD	PubMed
Q99767	Q9ULB1	NRXN1	HPRD	PubMed
Q99767	Q04206	RELA	HPRD	PubMed
Q99767	P61764	STXBP1	HPRD	PubMed
BioGRID:106818	BioGRID:106848	APP	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:106818	BioGRID:116550	CLSTN1	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:106818	BioGRID:110215	LRP1	BioGRID	PubMed	Two-hybrid
BioGRID:106818	BioGRID:110216	LRP2	BioGRID	PubMed	Two-hybrid
BioGRID:106818	BioGRID:113579	LRP8	BioGRID	PubMed	Two-hybrid
BioGRID:106818	BioGRID:111583	MAPK6	BioGRID	PubMed	Two-hybrid
BioGRID:106818	BioGRID:122006	NECAB3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106818	BioGRID:111643	PSEN2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106818	BioGRID:111902	RELA	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:106818	BioGRID:116077	USP20	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
nervous system development	TAS Traceable Author Statement more info	PubMed
protein transport	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: amyloid beta A4 precursor protein-binding family A member 2

Names: amyloid beta A4 precursor protein-binding family A member 2; mint-2; X11-like protein; adapter protein X11beta; neuron-specific X11L protein; neuronal munc18-1-interacting protein 2; phosphotyrosine-binding/-interacting domain (PTB)-bearing protein; amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001130414.1 → NP_001123886.1 amyloid beta A4 precursor protein-binding family A member 2 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.

Source sequence(s)

AB014719, AB209281, AC024474, AK310413, BC082986, BM665057, BX332225

Consensus CDS

CCDS45197.1

UniProtKB/TrEMBL

E9PGI4

UniProtKB/TrEMBL

Q59G28

UniProtKB/TrEMBL

Q5XKC0

UniProtKB/Swiss-Prot

Q99767

Related

ENSP00000409312, ENST00000411764

Conserved Domains (2) summary

cd00992
Location:645 – 718
Blast Score: 161

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd01208
Location:366 – 521
Blast Score: 700

X11; X11 Phosphotyrosine-binding (PTB) domain
NM_005503.3 → NP_005494.2 amyloid beta A4 precursor protein-binding family A member 2 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AB014719, AB209281, AC024474, AK310413, BC082986, BM665057, BX332225

Consensus CDS

CCDS10022.1

UniProtKB/TrEMBL

Q59G28

UniProtKB/TrEMBL

Q5XKC0

UniProtKB/Swiss-Prot

Q99767

Related

ENSP00000454171, ENST00000558259

Conserved Domains (2) summary

cd00992
Location:657 – 730
Blast Score: 161

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd01208
Location:366 – 533
Blast Score: 676

X11; X11 Phosphotyrosine-binding (PTB) domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000015.9 Reference GRCh37.p5 Primary Assembly

Range

29213840..29410518

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000147.1 Alternate HuRef

Range

6871147..7068137

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC024474.8 (15526..49682)	None
genomic	AC127522.7	None
genomic	CH471205.2	EAW51516.1
mRNA	AB014719.1	BAA34734.1
mRNA	AB209281.1	BAD92518.1
mRNA	AF029108.1	AAC05306.1
mRNA	AF047348.1	AAC39767.1
mRNA	AK124794.1	BAC85951.1
mRNA	AK310413.1	None
mRNA	BC007794.2	None
mRNA	BC082986.1	AAH82986.1
mRNA	BM665057.1	None
mRNA	BX332225.2	None
mRNA	U79255.1	AAB50203.1

Protein Accession	Links
Protein Accession	GenePept Link	UniProtKB Link
Q59G28	GenPept	UniProtKB/TrEMBL:Q59G28
Q5XKC0	GenPept	UniProtKB/TrEMBL:Q5XKC0
Q6ZVB1	GenPept	UniProtKB/TrEMBL:Q6ZVB1
Q99767.3	GenPept	UniProtKB/Swiss-Prot:Q99767