AP2B1 adaptor related protein complex 2 subunit beta 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AP2B1provided by HGNC
Official Full Name: adaptor related protein complex 2 subunit beta 1provided by HGNC
Primary source: HGNC:HGNC:563
See related: Ensembl:ENSG00000006125 MIM:601025; AllianceGenome:HGNC:563
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: ADTB2; AP105B; CLAPB1; AP2-BETA
Summary: The protein encoded by this gene is one of two large chain components of the assembly protein complex 2, which serves to link clathrin to receptors in coated vesicles. The encoded protein is found on the cytoplasmic face of coated vesicles in the plasma membrane. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in brain (RPKM 64.4), testis (RPKM 50.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q12

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (35587322..35726413)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (36535193..36674326)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (33914341..34053432)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Principal components analysis to evaluate complex association of polymorphisms in ACE and ACTN3 genes and the extent of cardiovascular adaptive changes in elite athletes.
Title: Principal components analysis to evaluate complex association of polymorphisms in ACE and ACTN3 genes and the extent of cardiovascular adaptive changes in elite athletes.
Polymorphisms of ACE and thrombophilic genes: risk for recurrent pregnancy loss.
Title: Polymorphisms of ACE and thrombophilic genes: risk for recurrent pregnancy loss.
Prevalence of Polymorphism and Post-Training Expression of ACTN3 (R/X) and ACE (I/D) Genes in CrossFit Athletes.
Title: Prevalence of Polymorphism and Post-Training Expression of ACTN3 (R/X) and ACE (I/D) Genes in CrossFit Athletes.
Reduced expression of AP-2beta was significantly associated with more advanced hepatocellular carcinoma stages and larger tumor sizes. The overexpression of AP-2beta reduced HCC proliferation, migration, invasion, tumor formation and metastasis in vitro and in vivo. Moreover, AP-2beta modulates the levels of epithelial-mesenchymal transition markers through Slug and Snail in hepatocellular carcinoma cell lines and tiss...
Title: AP-2β inhibits hepatocellular carcinoma invasion and metastasis through Slug and Snail to suppress epithelial-mesenchymal transition.
AP2B1 might be associated with the development of nonsyndromic cleft lip with or without cleft palate.
Title: Associations of genetic variants in endocytic trafficking of epidermal growth factor receptor super pathway with risk of nonsyndromic cleft lip with or without cleft palate.
this study determined a structure of AP2 that includes the clathrin-binding beta2 hinge.
Title: Clathrin adaptors. AP2 controls clathrin polymerization with a membrane-activated switch.
A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.
Title: Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
Results suggest that autosomal recessive hypercholesterolemia (ARH) and beta-arrestin depend on a privileged AP2beta2 appendage site for proper cargo recruitment to clathrin bud sites.
Title: The AP-2 adaptor beta2 appendage scaffolds alternate cargo endocytosis.
multiple interactions between PIPKI gamma-p90 and AP-2 lead to spatiotemporally controlled PI(4,5)P(2) synthesis during clathrin-mediated synaptic vesicle endocytosis
Title: Molecular basis for association of PIPKI gamma-p90 with clathrin adaptor AP-2.
EGFR, fibrillin-2, P-cadherin and AP2beta as biomarkers for rhabdomyosarcoma diagnostics.
Title: Immunohistochemical detection of EGFR, fibrillin-2, P-cadherin and AP2beta as biomarkers for rhabdomyosarcoma diagnostics.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
New gene functions in megakaryopoiesis and platelet formation. 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 transmembrane glycoprotein gp41	env	HIV-1 Env gp41 requires the conserved membrane-proximal AP2B1 binding site in the gp41 cytoplasmic tail to evade antibody-dependent cell-mediated cytotoxicity (ADCC) via membrane-proximal endocytosis	PubMed
	env	Two independent motifs, a membrane proximal conserved GYxxO motif (residues 711-715) and a C-terminal dileucine motif (residues 855-856), of the HIV-1 gp41 protein mediate endocytosis through interaction with the clathrin adaptor AP-2	PubMed
	env	The cytoplasmic domain (residues 707-856) of HIV-1 gp41 interacts with whole clathrin-associated AP-1 and AP-2 adaptor complexes	PubMed
Nef	nef	Clathrin and the clathrin-associated, plasma membrane-localized AP2 complexes are required for the HIV-1 Nef-mediated downregulation of CD4	PubMed
	nef	A dileucine-motif-containing segment of Nef binds directly to the beta subunit of the clathrin adaptor complexes AP-2, which are responsible for recruiting sorted proteins into clathrin coated pits	PubMed
	nef	HIV-1 Nef co-localizes with the beta subunit of the adaptor protein complexes (AP-2) in human T cells; Nef residues 174-179 are required for the co-localization of Nef with the beta subunit	PubMed
	nef	In cells expressing an HIV-1 Nef-green fluorescent protein (GFP) fusion, CD28 co-localizes with the AP-2 clathrin adaptor and Nef-GFP	PubMed
Pr55(Gag)	gag	HIV-1 Gag binds to AP-2, and this binding is dependent on tyrosine residue 132 and valine residue 135 at the matrix-capsid junction in the Gag polyprotein	PubMed
Tat	tat	Both HIV-1 Tat 47-59 and FITC-labeled Tat 47-59 peptides upregulate gene expression of adaptor-related protein complex 2, beta 1 subunit (AP2B1) in U-937 macrophages	PubMed
	tat	HIV-1 Tat enters T cells by using clathrin/AP2-mediated endocytosis followed by low-pH-induced and Hsp90-assisted endosomal translocation, which leads to cell responses that are induced from the cytosol	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17S2061 (e-PCR)
- UniSTS:72196

RH12574 (e-PCR)
- UniSTS:33291

RH47464 (e-PCR)
- UniSTS:26406

SGC44707 (e-PCR)
- UniSTS:32295

IB756 (e-PCR)
- UniSTS:70218

SHGC-52481 (e-PCR)
- UniSTS:43097

MARC_4629-4630:966894533:1 (e-PCR)
- UniSTS:269412

D17S1669 (e-PCR)
- UniSTS:66411

WI-18136 (e-PCR)
- UniSTS:83084

SHGC-57242 (e-PCR)
- UniSTS:43411

STS-W92018 (e-PCR)
- UniSTS:60074

CLAPB1 (e-PCR)
- UniSTS:266170

D17S1690 (e-PCR)
- UniSTS:6624

G59802 (e-PCR)
- UniSTS:136951

G62209 (e-PCR)
- UniSTS:146687

AP2B1-1 (e-PCR)
- UniSTS:509951

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to clathrin adaptor activity	TAS Traceable Author Statement more info	PubMed
enables clathrin binding	IBA Inferred from Biological aspect of Ancestor more info
enables clathrin binding	IDA Inferred from Direct Assay more info	PubMed
enables clathrin binding	IPI Inferred from Physical Interaction more info	PubMed
enables clathrin binding	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signal sequence binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in aorta development	IEA Inferred from Electronic Annotation more info
involved_in clathrin-dependent endocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in clathrin-dependent endocytosis	NAS Non-traceable Author Statement more info	PubMed
involved_in clathrin-dependent endocytosis	TAS Traceable Author Statement more info	PubMed
involved_in coronary vasculature development	IEA Inferred from Electronic Annotation more info
involved_in intracellular protein transport	IEA Inferred from Electronic Annotation more info
involved_in kidney development	IEA Inferred from Electronic Annotation more info
involved_in postsynaptic neurotransmitter receptor internalization	NAS Non-traceable Author Statement more info	PubMed
involved_in synaptic vesicle endocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in synaptic vesicle endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ventricular septum development	IEA Inferred from Electronic Annotation more info
involved_in vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in vesicle-mediated transport	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of AP-2 adaptor complex	IDA Inferred from Direct Assay more info	PubMed
part_of AP-2 adaptor complex	IMP Inferred from Mutant Phenotype more info	PubMed
part_of AP-2 adaptor complex	NAS Non-traceable Author Statement more info	PubMed
part_of AP-2 adaptor complex	TAS Traceable Author Statement more info	PubMed
part_of clathrin adaptor complex	IDA Inferred from Direct Assay more info	PubMed
located_in clathrin-coated endocytic vesicle	NAS Non-traceable Author Statement more info	PubMed
located_in clathrin-coated endocytic vesicle membrane	TAS Traceable Author Statement more info
located_in cytoplasmic side of plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in endocytic vesicle membrane	TAS Traceable Author Statement more info
located_in endolysosome membrane	TAS Traceable Author Statement more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynapse	IEA Inferred from Electronic Annotation more info
located_in presynapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: AP-2 complex subunit beta

Names: adapter-related protein complex 2 beta subunit; adapter-related protein complex 2 subunit beta; adaptin, beta 2 (beta); adaptor protein complex AP-2 subunit beta; adaptor related protein complex 2 beta 1 subunit; adaptor-related protein complex 2 subunit beta; beta-2-adaptin; beta-adaptin; beta2-adaptin; clathrin assembly protein complex 2 beta large chain; clathrin-associated/assembly/adaptor protein, large, beta 1; plasma membrane adaptor HA2/AP2 adaptin beta subunit; testicular tissue protein Li 22

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.

mRNA and Protein(s)

NM_001030006.2 → NP_001025177.1 AP-2 complex subunit beta isoform a

See identical proteins and their annotated locations for NP_001025177.1

Status: REVIEWED

Description

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

Source sequence(s)

AI691147, BC006201, BC012150, BQ421703, BX643620, M34175

Consensus CDS

CCDS32621.1

UniProtKB/TrEMBL

A0A140VJE8, A8K0G3

Related

ENSP00000483185.1, ENST00000610402.5

Conserved Domains (4) summary

smart00809
Location:731 → 831

Alpha_adaptinC2; Adaptin C-terminal domain

smart01020
Location:840 → 950

B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain

sd00044
Location:51 → 75

HEAT; HEAT repeat [structural motif]

pfam01602
Location:11 → 534

Adaptin_N; Adaptin N terminal region
NM_001282.3 → NP_001273.1 AP-2 complex subunit beta isoform b

See identical proteins and their annotated locations for NP_001273.1

Status: REVIEWED

Description

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

Source sequence(s)

AI691147, BQ421703, BX643620, M34175

Consensus CDS

CCDS32622.1

UniProtKB/Swiss-Prot

A6NJP3, P21851, P63010, Q7Z451, Q96J19

UniProtKB/TrEMBL

A8K0G3

Related

ENSP00000482315.1, ENST00000621914.4

Conserved Domains (4) summary

smart00809
Location:717 → 817

Alpha_adaptinC2; Adaptin C-terminal domain

smart01020
Location:826 → 936

B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain

sd00044
Location:51 → 75

HEAT; HEAT repeat [structural motif]

pfam01602
Location:11 → 534

Adaptin_N; Adaptin N terminal region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

35587322..35726413

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011524450.3 → XP_011522752.1 AP-2 complex subunit beta isoform X1

See identical proteins and their annotated locations for XP_011522752.1

UniProtKB/TrEMBL

A8K0G3

Conserved Domains (4) summary

smart00809
Location:731 → 825

Alpha_adaptinC2; Adaptin C-terminal domain

smart01020
Location:872 → 982

B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain

sd00044
Location:51 → 75

HEAT; HEAT repeat [structural motif]

pfam01602
Location:11 → 534

Adaptin_N; Adaptin N terminal region
XM_005257938.4 → XP_005257995.1 AP-2 complex subunit beta isoform X3

See identical proteins and their annotated locations for XP_005257995.1

UniProtKB/TrEMBL

A0A140VJE8, A8K0G3

Related

ENSP00000482835.1, ENST00000618940.4

Conserved Domains (4) summary

smart00809
Location:731 → 831

Alpha_adaptinC2; Adaptin C-terminal domain

smart01020
Location:840 → 950

B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain

sd00044
Location:51 → 75

HEAT; HEAT repeat [structural motif]

pfam01602
Location:11 → 534

Adaptin_N; Adaptin N terminal region
XM_047435509.1 → XP_047291465.1 AP-2 complex subunit beta isoform X2
XM_047435510.1 → XP_047291466.1 AP-2 complex subunit beta isoform X4

UniProtKB/Swiss-Prot

A6NJP3, P21851, P63010, Q7Z451, Q96J19
XM_011524449.4 → XP_011522751.1 AP-2 complex subunit beta isoform X1

See identical proteins and their annotated locations for XP_011522751.1

UniProtKB/TrEMBL

A8K0G3

Conserved Domains (4) summary

smart00809
Location:731 → 825

Alpha_adaptinC2; Adaptin C-terminal domain

smart01020
Location:872 → 982

B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain

sd00044
Location:51 → 75

HEAT; HEAT repeat [structural motif]

pfam01602
Location:11 → 534

Adaptin_N; Adaptin N terminal region
XM_005257937.5 → XP_005257994.1 AP-2 complex subunit beta isoform X3

See identical proteins and their annotated locations for XP_005257994.1

UniProtKB/TrEMBL

A0A140VJE8, A8K0G3

Conserved Domains (4) summary

smart00809
Location:731 → 831

Alpha_adaptinC2; Adaptin C-terminal domain

smart01020
Location:840 → 950

B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain

sd00044
Location:51 → 75

HEAT; HEAT repeat [structural motif]

pfam01602
Location:11 → 534

Adaptin_N; Adaptin N terminal region
XM_047435508.1 → XP_047291464.1 AP-2 complex subunit beta isoform X2
XM_017024284.3 → XP_016879773.1 AP-2 complex subunit beta isoform X4

UniProtKB/Swiss-Prot

A6NJP3, P21851, P63010, Q7Z451, Q96J19

UniProtKB/TrEMBL

A8K0G3

Conserved Domains (4) summary

smart00809
Location:717 → 817

Alpha_adaptinC2; Adaptin C-terminal domain

smart01020
Location:826 → 936

B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain

sd00044
Location:51 → 75

HEAT; HEAT repeat [structural motif]

pfam01602
Location:11 → 534

Adaptin_N; Adaptin N terminal region
XM_011524448.3 → XP_011522750.1 AP-2 complex subunit beta isoform X1

See identical proteins and their annotated locations for XP_011522750.1

UniProtKB/TrEMBL

A8K0G3

Conserved Domains (4) summary

smart00809
Location:731 → 825

Alpha_adaptinC2; Adaptin C-terminal domain

smart01020
Location:872 → 982

B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain

sd00044
Location:51 → 75

HEAT; HEAT repeat [structural motif]

pfam01602
Location:11 → 534

Adaptin_N; Adaptin N terminal region
XM_011524451.3 → XP_011522753.1 AP-2 complex subunit beta isoform X2

UniProtKB/TrEMBL

A8K0G3

Conserved Domains (4) summary

smart00809
Location:717 → 811

Alpha_adaptinC2; Adaptin C-terminal domain

smart01020
Location:858 → 968

B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain

sd00044
Location:51 → 75

HEAT; HEAT repeat [structural motif]

pfam01602
Location:11 → 534

Adaptin_N; Adaptin N terminal region
XM_047435512.1 → XP_047291468.1 AP-2 complex subunit beta isoform X6

Related

ENSP00000478115.1, ENST00000612116.5
XM_017024287.3 → XP_016879776.1 AP-2 complex subunit beta isoform X6

UniProtKB/TrEMBL

A0A087WU93

Related

ENSP00000479691.1, ENST00000614600.4

Conserved Domains (3) summary

pfam01602
Location:11 → 534

Adaptin_N; Adaptin N terminal region

pfam12717
Location:99 → 268

Cnd1; non-SMC mitotic condensation complex subunit 1

sd00044
Location:51 → 75

HEAT; HEAT repeat [structural motif]
XM_005257941.4 → XP_005257998.1 AP-2 complex subunit beta isoform X6

UniProtKB/TrEMBL

A0A087WU93

Related

ENSP00000478471.1, ENST00000616784.4

Conserved Domains (3) summary

pfam01602
Location:11 → 534

Adaptin_N; Adaptin N terminal region

pfam12717
Location:99 → 268

Cnd1; non-SMC mitotic condensation complex subunit 1

sd00044
Location:51 → 75

HEAT; HEAT repeat [structural motif]
XM_047435511.1 → XP_047291467.1 AP-2 complex subunit beta isoform X5

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

36535193..36674326

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054315296.1 → XP_054171271.1 AP-2 complex subunit beta isoform X6
XM_054315295.1 → XP_054171270.1 AP-2 complex subunit beta isoform X6
XM_054315284.1 → XP_054171259.1 AP-2 complex subunit beta isoform X1
XM_054315287.1 → XP_054171262.1 AP-2 complex subunit beta isoform X2
XM_054315290.1 → XP_054171265.1 AP-2 complex subunit beta isoform X3

UniProtKB/TrEMBL

A0A140VJE8
XM_054315292.1 → XP_054171267.1 AP-2 complex subunit beta isoform X4

UniProtKB/Swiss-Prot

A6NJP3, P21851, P63010, Q7Z451, Q96J19
XM_054315289.1 → XP_054171264.1 AP-2 complex subunit beta isoform X3

UniProtKB/TrEMBL

A0A140VJE8
XM_054315291.1 → XP_054171266.1 AP-2 complex subunit beta isoform X4

UniProtKB/Swiss-Prot

A6NJP3, P21851, P63010, Q7Z451, Q96J19
XM_054315283.1 → XP_054171258.1 AP-2 complex subunit beta isoform X1
XM_054315286.1 → XP_054171261.1 AP-2 complex subunit beta isoform X2
XM_054315294.1 → XP_054171269.1 AP-2 complex subunit beta isoform X6
XM_054315285.1 → XP_054171260.1 AP-2 complex subunit beta isoform X1
XM_054315288.1 → XP_054171263.1 AP-2 complex subunit beta isoform X2
XM_054315293.1 → XP_054171268.1 AP-2 complex subunit beta isoform X5