AP3B2 adaptor related protein complex 3 subunit beta 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AP3B2provided by HGNC
Official Full Name: adaptor related protein complex 3 subunit beta 2provided by HGNC
Primary source: HGNC:HGNC:567
See related: Ensembl:ENSG00000103723 MIM:602166; AllianceGenome:HGNC:567
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: DEE48; NAPTB; EIEE48
Summary: Adaptor protein complex 3 (AP-3 complex) is a heterotrimeric protein complex involved in the formation of clathrin-coated synaptic vesicles. The protein encoded by this gene represents the beta subunit of the neuron-specific AP-3 complex and was first identified as the target antigen in human paraneoplastic neurologic disorders. The encoded subunit binds clathrin and is phosphorylated by a casein kinase-like protein, which mediates synaptic vesicle coat assembly. Defects in this gene are a cause of early-onset epileptic encephalopathy. [provided by RefSeq, Feb 2017]
Expression: Biased expression in brain (RPKM 16.0), testis (RPKM 3.0) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 15q25.2

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (82659281..82709875, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (80523517..80574118, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (83328033..83378627, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel homozygous AP3B2 mutations in four individuals with developmental and epileptic encephalopathy: A rare clinical entity.
Title: Novel homozygous AP3B2 mutations in four individuals with developmental and epileptic encephalopathy: A rare clinical entity.
Plasma lncRNA LOC338963 and mRNA AP3B2 are upregulated in paraneoplastic Lambert-Eaton myasthenic syndrome.
Title: Plasma lncRNA LOC338963 and mRNA AP3B2 are upregulated in paraneoplastic Lambert-Eaton myasthenic syndrome.
Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15.
Title: Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15.
The AP3B2 antigen was identified in sera and cerebrospinal fluid of patients with sensory or cerebellar ataxia.
Title: Autoimmune gait disturbance accompanying adaptor protein-3B2-IgG.
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.
Title: Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.
Our findings provide direct evidence for the association of FBXO38 and AP3B2 with severe chronic periodontitis in the Han Chinese population.
Title: Two-stage comprehensive evaluation of genetic susceptibility of common variants in FBXO38, AP3B2 and WHAMM to severe chronic periodontitis.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association analysis between schizophrenia and the AP-3 complex genes.
A novel splice variant of AP3B2, AP3B2_v2, was isolated by large-scale sequencing analysis of a fetal brain cDNA library; Sequence analysis showed AP3B2_v2 missed 22 exons that existed in AP3B2_upsilon1, encoding a different putative protein
Title: Characterization of AP3B2_v2, a novel splice variant of human AP3B2.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Developmental and epileptic encephalopathy, 48 MedGen: C4310637 OMIM: 617276 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	In the absence of Vpu, Env accumulates extensively within clathrin-coated endosomal structures, including the viral proteins Gag and MA; the tetraspanins CD63 and CD81; the adaptor protein complex AP-3; and AIP1/ALIX, a cellular cofactor for viral budding	PubMed
Pr55(Gag)	gag	In the absence of Vpu, Env accumulates extensively within clathrin-coated endosomal structures, including the viral proteins Gag and MA; the tetraspanins CD63 and CD81; the adaptor protein complex AP-3; and AIP1/ALIX, a cellular cofactor for viral budding	PubMed
matrix	gag	In the absence of Vpu, Env accumulates extensively within clathrin-coated endosomal structures, including the viral proteins Gag and MA; the tetraspanins CD63 and CD81; the adaptor protein complex AP-3; and AIP1/ALIX, a cellular cofactor for viral budding	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-22674 (e-PCR)
- UniSTS:40021

WI-21100 (e-PCR)
- UniSTS:8570

RH66690 (e-PCR)
- UniSTS:15766

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in anterograde axonal transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in anterograde synaptic vesicle transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in anterograde synaptic vesicle transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in clathrin-coated vesicle cargo loading, AP-3-mediated	NAS Non-traceable Author Statement more info	PubMed
involved_in intracellular protein transport	IEA Inferred from Electronic Annotation more info
involved_in intracellular transport	NAS Non-traceable Author Statement more info	PubMed
involved_in synaptic vesicle coating	NAS Non-traceable Author Statement more info	PubMed
involved_in synaptic vesicle recycling	NAS Non-traceable Author Statement more info	PubMed
involved_in vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of AP-3 adaptor complex	NAS Non-traceable Author Statement more info	PubMed
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in axon cytoplasm	IEA Inferred from Electronic Annotation more info
located_in clathrin-coated vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in early endosome	NAS Non-traceable Author Statement more info	PubMed
located_in intracellular vesicle	TAS Traceable Author Statement more info	PubMed
located_in presynapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: AP-3 complex subunit beta-2

Names: Neuronal adaptin-like protein, beta-subunit; adaptor protein complex AP-3 subunit beta-2; adaptor related protein complex 3 beta 2 subunit; beta-3B-adaptin; clathrin assembly protein complex 3 beta-2 large chain; neuron-specific vesicle coat protein beta-NAP

NCBI Reference Sequences (RefSeq)

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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.

Genomic

NG_052957.1 RefSeqGene

Range

5034..55628

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001278511.2 → NP_001265440.1 AP-3 complex subunit beta-2 isoform 3

See identical proteins and their annotated locations for NP_001265440.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AF022152, BC143342, BQ777385

Consensus CDS

CCDS61736.1

UniProtKB/TrEMBL

A0A590UK04

Related

ENSP00000438721.1, ENST00000535348.5

Conserved Domains (4) summary

pfam01602
Location:34 → 558

Adaptin_N; Adaptin N terminal region

pfam12717
Location:91 → 235

Cnd1; non-SMC mitotic condensation complex subunit 1

pfam14796
Location:772 → 915

AP3B1_C; Clathrin-adaptor complex-3 beta-1 subunit C-terminal

sd00044
Location:42 → 66

HEAT; HEAT repeat [structural motif]
NM_001278512.2 → NP_001265441.1 AP-3 complex subunit beta-2 isoform 1

See identical proteins and their annotated locations for NP_001265441.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AF022152, BC143346, BQ777385

Consensus CDS

CCDS61737.1

UniProtKB/TrEMBL

A0A5F9UJV3

Related

ENSP00000440984.1, ENST00000535359.6

Conserved Domains (4) summary

pfam01602
Location:34 → 590

Adaptin_N; Adaptin N terminal region

pfam12717
Location:123 → 267

Cnd1; non-SMC mitotic condensation complex subunit 1

pfam14796
Location:823 → 966

AP3B1_C; Clathrin-adaptor complex-3 beta-1 subunit C-terminal

sd00044
Location:111 → 139

HEAT; HEAT repeat [structural motif]
NM_001348440.2 → NP_001335369.1 AP-3 complex subunit beta-2 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 3' UTR and coding sequence compared to variant 1, The resulting isoform (4) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AC105339, BC035640, BQ777385, CA311494

Consensus CDS

CCDS86482.1

UniProtKB/TrEMBL

A0A590UK69, F5GYB0

Related

ENSP00000440719.1, ENST00000542200.2

Conserved Domains (1) summary

cl26317
Location:34 → 122

Adaptin_N; Adaptin N terminal region
NM_001348441.2 → NP_001335370.1 AP-3 complex subunit beta-2 isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (5, also known as AP3B2_v2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (5) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AF022152, DQ092369

UniProtKB/Swiss-Prot

Q13367
NM_004644.5 → NP_004635.2 AP-3 complex subunit beta-2 isoform 2

See identical proteins and their annotated locations for NP_004635.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AF022152, BC093739, BQ777385

Consensus CDS

CCDS45331.1

UniProtKB/Swiss-Prot

A4Z4T7, B7ZKR7, B7ZKS0, O14808, Q13367, Q52LY8

UniProtKB/TrEMBL

A0A5F9UJV3

Related

ENSP00000499235.1, ENST00000668990.2

Conserved Domains (4) summary

pfam01602
Location:34 → 590

Adaptin_N; Adaptin N terminal region

pfam12717
Location:123 → 267

Cnd1; non-SMC mitotic condensation complex subunit 1

pfam14796
Location:804 → 947

AP3B1_C; Clathrin-adaptor complex-3 beta-1 subunit C-terminal

sd00044
Location:111 → 139

HEAT; HEAT repeat [structural motif]