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] See more...

Aliases for AP2B1 Gene

Aliases for AP2B1 Gene

  • Adaptor Related Protein Complex 2 Subunit Beta 1 2 3 5
  • Clathrin Assembly Protein Complex 2 Beta Large Chain 3 4
  • Plasma Membrane Adaptor HA2/AP2 Adaptin Beta Subunit 3 4
  • Adaptor Related Protein Complex 2 Beta 1 Subunit 2 3
  • Adaptor-Related Protein Complex 2 Subunit Beta 3 4
  • Adaptor Protein Complex AP-2 Subunit Beta 3 4
  • AP-2 Complex Subunit Beta 3 4
  • Beta-2-Adaptin 3 4
  • Beta-Adaptin 3 4
  • CLAPB1 3 4
  • AP105B 3 4
  • ADTB2 3 4
  • Clathrin-Associated/Assembly/Adaptor Protein, Large, Beta 1 3
  • Adapter-Related Protein Complex 2 Beta Subunit 3
  • Adapter-Related Protein Complex 2 Subunit Beta 3
  • Testicular Tissue Protein Li 22 3
  • Adaptin, Beta 2 (Beta) 3
  • AP2-BETA 3

External Ids for AP2B1 Gene

Previous HGNC Symbols for AP2B1 Gene

  • ADTB2
  • CLAPB1

Previous GeneCards Identifiers for AP2B1 Gene

  • GC17P033684
  • GC17P035950
  • GC17P033762
  • GC17P034059
  • GC17P030938
  • GC17P033914
  • GC17P030099

Summaries for AP2B1 Gene

Entrez Gene Summary for AP2B1 Gene

  • 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]

GeneCards Summary for AP2B1 Gene

AP2B1 (Adaptor Related Protein Complex 2 Subunit Beta 1) is a Protein Coding gene. Diseases associated with AP2B1 include Cerebellar Degeneration and Char Syndrome. Among its related pathways are Lipoprotein metabolism and ADP signalling through P2Y purinoceptor 1. Gene Ontology (GO) annotations related to this gene include binding and clathrin binding. An important paralog of this gene is AP1B1.

UniProtKB/Swiss-Prot Summary for AP2B1 Gene

  • Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. During long-term potentiation in hippocampal neurons, AP-2 is responsible for the endocytosis of ADAM10 (PubMed:23676497). The AP-2 beta subunit acts via its C-terminal appendage domain as a scaffolding platform for endocytic accessory proteins; at least some clathrin-associated sorting proteins (CLASPs) are recognized by their [DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif. The AP-2 beta subunit binds to clathrin heavy chain, promoting clathrin lattice assembly; clathrin displaces at least some CLASPs from AP2B1 which probably then can be positioned for further coat assembly.

Gene Wiki entry for AP2B1 Gene

Additional gene information for AP2B1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AP2B1 Gene

Genomics for AP2B1 Gene

GeneHancer (GH) Regulatory Elements for AP2B1 Gene

Promoters and enhancers for AP2B1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J035586 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 528 +11.1 11127 5.5 ZBTB40 ZNF217 EP300 ZSCAN5C TCF12 NRF1 USF1 POLR2G SP1 NCOR1 AP2B1 NONHSAG021558.2 lnc-PEX12-2 RASL10B PEX12 LIG3 SNHG30 C17orf50 SLFN12L ENSG00000267592
GH17J035576 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 519.7 +0.1 127 3.3 ZBTB40 ZNF217 EP300 TCF12 SIN3A POLR2G GTF2E2 PHF8 SIX5 ZFX AP2B1 PEX12 lnc-TAF15-6 LIG3 ZNF830 ENSG00000267592 GAS2L2
GH17J035716 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 518.4 +139.2 139155 1.2 MXI1 ZBTB33 JUND GATA3 RXRA HNF4A ESR1 MAX YY1 NR3C1 AP2B1 C17orf50 MMP28 TAF15 lnc-RASL10B-1
GH17J035567 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 36.4 -9.5 -9545 3 ZNF217 SIN3A NRF1 USF1 POLR2G SP1 RBAK GTF2E2 PHF8 FOS SNHG30 ENSG00000242660 LIG3 ZNF830 PEX12 AP2B1 RAD51D ENSG00000267592 GAS2L2 SNORD7
GH17J035763 Promoter/Enhancer 1.9 EPDnew ENCODE CraniofacialAtlas 19.6 +187.2 187156 2.9 EP300 CTCF MYC RBAK PHF8 TEAD4 ZNF639 ZNF354C ZIC2 ZBTB10 C17orf50 GAS2L2 lnc-GAS2L2-2 LIG3 ZNF830 SNHG30 PEX12 AP2B1 CCT6B RAD51D
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AP2B1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AP2B1

Top Transcription factor binding sites by QIAGEN in the AP2B1 gene promoter:
  • AML1a
  • AP-2gamma
  • AREB6
  • ATF-2
  • Brachyury
  • Cdc5
  • Elk-1
  • En-1
  • LCR-F1

Genomic Locations for AP2B1 Gene

Genomic Locations for AP2B1 Gene
chr17:35,578,046-35,726,417
(GRCh38/hg38)
Size:
148,372 bases
Orientation:
Plus strand
chr17:33,905,065-34,053,436
(GRCh37/hg19)
Size:
148,372 bases
Orientation:
Plus strand

Genomic View for AP2B1 Gene

Genes around AP2B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AP2B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AP2B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AP2B1 Gene

Proteins for AP2B1 Gene

  • Protein details for AP2B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P63010-AP2B1_HUMAN
    Recommended name:
    AP-2 complex subunit beta
    Protein Accession:
    P63010
    Secondary Accessions:
    • A6NJP3
    • P21851
    • Q7Z451
    • Q96J19

    Protein attributes for AP2B1 Gene

    Size:
    937 amino acids
    Molecular mass:
    104553 Da
    Quaternary structure:
    • Adaptor protein complex 2 (AP-2) is a heterotetramer composed of two large adaptins (alpha-type subunit AP2A1 or AP2A2 and beta-type subunit AP2B1), a medium adaptin (mu-type subunit AP2M1) and a small adaptin (sigma-type subunit AP2S1) (PubMed:12086608, PubMed:19140243). Interacts with EPN1 (PubMed:10944104, PubMed:16516836). Interacts with EPS15; clathrin competes with EPS15 (PubMed:10944104, PubMed:16903783). Interacts with SNAP91; clathrin competes with SNAP91 (PubMed:10944104, PubMed:16516836, PubMed:16903783). Interacts with CLTC; clathrin competes with EPS15, SNAP91 and PIP5K1C (PubMed:10944104). Interacts with LDLRAP1 (PubMed:15728179, PubMed:16516836, PubMed:16903783). Interacts with AMPH and BIN1 (PubMed:16516836, PubMed:16903783). Interacts with ARF6 (GDP-bound) (PubMed:17719203). Interacts (dephosphorylated at Tyr-737) with ARRB1; phosphorylation of AP2B1 at Tyr-737 disrupts the interaction (PubMed:11777907, PubMed:17456551, PubMed:16516836, PubMed:16903783). Interacts with SLC2A8 (PubMed:16723738). Interacts with SCYL1 and SCYL2 (PubMed:16903783). Interacts with TGFBR1 and TGFBR2 (PubMed:12429842). Interacts with PIP5K1C; clathrin competes with PIP5K1C (By similarity). Interacts with DENND1B, but not with DENND1A, nor DENND1C (PubMed:20154091). Interacts with FCHO1 (PubMed:22484487). Interacts with RFTN1 (PubMed:27022195). Interacts with KIAA1107 (PubMed:29262337). Together with AP2A1 or AP2A2 and AP2M1, it interacts with ADAM10; this interaction facilitates ADAM10 endocytosis from the plasma membrane during long-term potentiation in hippocampal neurons (PubMed:23676497).
    Miscellaneous:
    • [Isoform 3]: Highly expressed in the testis, spleen, thymus, prostate, ovary, blood leukocyte and brain, but not in the heart, placenta, lung, liver, skeletal muscle, kidney and pancreas. Testis expression is restricted to germ cells and is about 3-fold higher in adults than in embryos.

    Three dimensional structures from OCA and Proteopedia for AP2B1 Gene

    Alternative splice isoforms for AP2B1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AP2B1 Gene

Post-translational modifications for AP2B1 Gene

  • Phosphorylation at Tyr-737 by SRC occurs at the plasma membrane in clathrin-coated vesicles (CCVs).
  • Ubiquitination at Lys538 and Lys917
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AP2B1 Gene

Domains & Families for AP2B1 Gene

Gene Families for AP2B1 Gene

Protein Domains for AP2B1 Gene

Blocks:
  • 2-oxo acid dehydrogenase, acyltransferase component, lipoyl-binding
  • Armadillo repeat
  • Adaptin, N-terminal
  • Alpha/gamma adaptin, C-terminal
  • HEAT repeat
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AP2B1 Gene

GenScript: Design optimal peptide antigens:
  • Plasma membrane adaptor HA2/AP2 adaptin beta subunit (AP2B1_HUMAN)
  • Adaptor-related protein complex 2, beta 1 subunit, isoform CRA_d (E1P646_HUMAN)
  • Adaptor-related protein complex 2, beta 1 subunit, isoform CRA_b (E1P647_HUMAN)
  • Adaptor-related protein complex 2, beta 1 subunit, isoform CRA_c (E1P648_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P63010

UniProtKB/Swiss-Prot:

AP2B1_HUMAN :
  • Belongs to the adaptor complexes large subunit family.
Family:
  • Belongs to the adaptor complexes large subunit family.
genes like me logo Genes that share domains with AP2B1: view

Function for AP2B1 Gene

Molecular function for AP2B1 Gene

UniProtKB/Swiss-Prot Function:
Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. During long-term potentiation in hippocampal neurons, AP-2 is responsible for the endocytosis of ADAM10 (PubMed:23676497). The AP-2 beta subunit acts via its C-terminal appendage domain as a scaffolding platform for endocytic accessory proteins; at least some clathrin-associated sorting proteins (CLASPs) are recognized by their [DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif. The AP-2 beta subunit binds to clathrin heavy chain, promoting clathrin lattice assembly; clathrin displaces at least some CLASPs from AP2B1 which probably then can be positioned for further coat assembly.

Phenotypes From GWAS Catalog for AP2B1 Gene

Gene Ontology (GO) - Molecular Function for AP2B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005048 signal sequence binding TAS 12121421
GO:0005515 protein binding IEA,IPI 9341158
GO:0030276 clathrin binding TAS 12121421
GO:0035615 contributes_to clathrin adaptor activity TAS 12121421
GO:0044877 protein-containing complex binding IEA --
genes like me logo Genes that share ontologies with AP2B1: view
genes like me logo Genes that share phenotypes with AP2B1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for AP2B1

CRISPR Products

Clone Products

  • Addgene plasmids for AP2B1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AP2B1 Gene

Localization for AP2B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AP2B1 Gene

Cell membrane. Membrane, coated pit; Peripheral membrane protein; Cytoplasmic side. Note=AP-2 appears to be excluded from internalizing CCVs and to disengage from sites of endocytosis seconds before internalization of the nascent CCV.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AP2B1 gene
Compartment Confidence
plasma membrane 5
cytosol 5
endosome 4
lysosome 4
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for AP2B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0005905 clathrin-coated pit IEA --
GO:0016020 membrane IEA,HDA 19946888
genes like me logo Genes that share ontologies with AP2B1: view

Pathways & Interactions for AP2B1 Gene

genes like me logo Genes that share pathways with AP2B1: view

Pathways by source for AP2B1 Gene

5 GeneGo (Thomson Reuters) pathways for AP2B1 Gene
  • Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)
  • Development Angiotensin signaling via beta-Arrestin
  • Transport Clathrin-coated vesicle cycle
  • wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
  • wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
2 Qiagen pathways for AP2B1 Gene
  • CTLA4 Signaling
  • Endocytic Trafficking of EGFR

SIGNOR curated interactions for AP2B1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for AP2B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003281 ventricular septum development IEA --
GO:0006886 intracellular protein transport IEA --
GO:0006897 endocytosis IEA --
GO:0007507 heart development IEA --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with AP2B1: view

Drugs & Compounds for AP2B1 Gene

(2) Drugs for AP2B1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with AP2B1: view

Transcripts for AP2B1 Gene

mRNA/cDNA for AP2B1 Gene

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
22 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for AP2B1

Alternative Splicing Database (ASD) splice patterns (SP) for AP2B1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ·
SP1: - - - -
SP2: - - - - -
SP3: - - -
SP4: - -
SP5: - - - -
SP6: - - -
SP7: -
SP8:
SP9:

ExUns: 16c ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b · 27c
SP1: - - -
SP2: - -
SP3: - - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: -

Relevant External Links for AP2B1 Gene

GeneLoc Exon Structure for
AP2B1

Expression for AP2B1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AP2B1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AP2B1 Gene

This gene is overexpressed in Brain (11.8) and Frontal cortex (10.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AP2B1 Gene



Protein tissue co-expression partners for AP2B1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AP2B1

SOURCE GeneReport for Unigene cluster for AP2B1 Gene:

Hs.514819

mRNA Expression by UniProt/SwissProt for AP2B1 Gene:

P63010-AP2B1_HUMAN
Tissue specificity: Expressed in the brain (at protein level).

Evidence on tissue expression from TISSUES for AP2B1 Gene

  • Nervous system(5)
  • Liver(4.4)
  • Muscle(4.4)
  • Kidney(3.4)
  • Lung(3.4)
  • Heart(2.9)
  • Intestine(2.7)
  • Eye(2.4)
  • Adrenal gland(2.1)
  • Blood(2)
genes like me logo Genes that share expression patterns with AP2B1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for AP2B1 Gene

Orthologs for AP2B1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AP2B1 Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Ap2b1 31
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AP2B1 31 30
  • 99.68 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AP2B1 31 30
  • 94.6 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AP2B1 31 30
  • 94.36 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AP2B1 31
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ap2b1 30
  • 92.6 (n)
oppossum
(Monodelphis domestica)
Mammalia AP2B1 31
  • 38 (a)
OneToOne
chicken
(Gallus gallus)
Aves AP2B1 31 30
  • 83.07 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ap2b1 30
  • 80.51 (n)
MGC75877 30
African clawed frog
(Xenopus laevis)
Amphibia ap2b1-prov 30
zebrafish
(Danio rerio)
Actinopterygii ap2b1 31 30
  • 79.64 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Bap 31 32
  • 74 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea apb-1 31
  • 63 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APL2 31
  • 36 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os.5414 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 73 (a)
ManyToMany
CSA.9795 31
  • 54 (a)
ManyToMany
Species where no ortholog for AP2B1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AP2B1 Gene

ENSEMBL:
Gene Tree for AP2B1 (if available)
TreeFam:
Gene Tree for AP2B1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AP2B1: view image

Paralogs for AP2B1 Gene

Paralogs for AP2B1 Gene

(5) SIMAP similar genes for AP2B1 Gene using alignment to 12 proteins:

  • AP2B1_HUMAN
  • H0UID3_HUMAN
  • H0UID4_HUMAN
  • H0UID5_HUMAN
  • K7EJ01_HUMAN
  • K7EJT8_HUMAN
  • K7EJX1_HUMAN
  • K7EKZ5_HUMAN
  • K7EMN7_HUMAN
  • K7EN71_HUMAN
  • K7ERB2_HUMAN
  • K7ERE4_HUMAN

Pseudogenes.org Pseudogenes for AP2B1 Gene

genes like me logo Genes that share paralogs with AP2B1: view

Variants for AP2B1 Gene

Additional dbSNP identifiers (rs#s) for AP2B1 Gene

Structural Variations from Database of Genomic Variants (DGV) for AP2B1 Gene

Variant ID Type Subtype PubMed ID
dgv52n17 CNV loss 16327808
esv2647158 CNV deletion 19546169
esv3361978 CNV insertion 20981092
esv3640454 CNV loss 21293372
esv3640456 CNV loss 21293372
esv3892999 CNV loss 25118596
nsv1062793 CNV loss 25217958
nsv1123124 CNV deletion 24896259
nsv1134643 CNV deletion 24896259
nsv2038 CNV insertion 18451855
nsv438273 CNV loss 16468122
nsv960466 CNV duplication 23825009

Variation tolerance for AP2B1 Gene

Residual Variation Intolerance Score: 4.07% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.28; 6.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AP2B1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AP2B1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AP2B1 Gene

Disorders for AP2B1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for AP2B1 Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search AP2B1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AP2B1

genes like me logo Genes that share disorders with AP2B1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AP2B1 Gene

Publications for AP2B1 Gene

  1. The AP-2 complex is excluded from the dynamic population of plasma membrane-associated clathrin. (PMID: 14530274) Rappoport JZ … Simon SM (The Journal of biological chemistry 2003) 3 4 23 54
  2. beta-Arrestin/AP-2 interaction in G protein-coupled receptor internalization: identification of a beta-arrestin binging site in beta 2-adaptin. (PMID: 11777907) Laporte SA … Caron MG (The Journal of biological chemistry 2002) 3 4 23 54
  3. The structure and function of the beta 2-adaptin appendage domain. (PMID: 10944104) Owen DJ … Evans PR (The EMBO journal 2000) 3 4 23 54
  4. Conservation and diversity in families of coated vesicle adaptins. (PMID: 1969413) Ponnambalam S … Parham P (The Journal of biological chemistry 1990) 3 4 23 54
  5. Endocytosis of synaptic ADAM10 in neuronal plasticity and Alzheimer's disease. (PMID: 23676497) Marcello E … Di Luca M (The Journal of clinical investigation 2013) 3 4 54

Products for AP2B1 Gene

  • Boster Bio Antibodies for AP2B1