• Gene id: 163

Gene Summary

• Gene Symbol: AP2B1   Gene   UCSC   Ensembl
• Aliases: ADTB2, AP105B, AP2-BETA, CLAPB1
• Gene name: adaptor related protein complex 2 subunit beta 1
• Alternate names: AP-2 complex subunit beta, 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 prote,
• Gene location: 17q12 (35587264: 35726412)     Exons: 26     NC_000017.11
• Gene summary(Entrez): 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 m
• OMIM: 601025

SNPs

rs398123027

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.35943953G>A
NC_000006.11   g.35911730G>A
NG_033897.1   g.85684C>T
NM_052961.4   c.2860C>T
NM_052961.3   c.2860C>T
NM_001193476.2   c.2860C>T
NM_001193476.1   c.2860C>T
NM_138718.2   c.2545C>T
XM_011514294.3   c.2782C>T
XM_017010235.1   c.2860C>T
NP_4431  

rs397515622

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.55491203C>A
NC_000015.9   g.55783401C>A
NG_021213.1   g.22032G>T
NM_130810.4   c.325G>T
NM_130810.3   c.325G>T
NM_001033559.2   c.325G>T
NM_001033560.1   c.325G>T
NR_037923.1   n.580G>T
NP_570722.2   p.Glu109Ter
NP_001028731.1   p.Glu109Ter
NP_001028732  

rs142724470

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.35951201C>T
NC_000006.11   g.35918978C>T
NG_033897.1   g.78436G>A
NM_052961.4   c.2434G>A
NM_052961.3   c.2434G>A
NM_001193476.2   c.2434G>A
NM_001193476.1   c.2434G>A
NM_138718.2   c.2119G>A
XM_011514294.3   c.2356G>A
XM_017010235.1   c.2434G>A
NP_4431  

rs140210148

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.36012301C>T
NC_000006.11   g.35980078C>T
NG_033897.1   g.17336G>A
NM_052961.4   c.260G>A
NM_052961.3   c.260G>A
NM_001193476.2   c.260G>A
NM_001193476.1   c.260G>A
NM_138718.2   c.260G>A
XM_011514294.3   c.260G>A
XR_926055.3   n.370G>A
XM_017010235.1   c.

rs498422

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.32318984T>G
NC_000006.11   g.32286761T>G
NT_113891.3   g.3757457T>G
NT_113891.2   g.3757563T>G
NT_167248.2   g.3542362G>T
NT_167248.1   g.3547958G>T
NT_167245.2   g.3560446T>G
NT_167245.1   g.3566031T>G
NT_167249.2   g.3635248T>G
NT_167249.1   g.3634546

Protein Summary

• Protein general information: P63010  
  • Name: AP 2 complex subunit beta (AP105B) (Adaptor protein complex AP 2 subunit beta) (Adaptor related protein complex 2 subunit beta) (Beta 2 adaptin) (Beta adaptin) (Clathrin assembly protein complex 2 beta large chain) (Plasma membrane adaptor HA2/AP2 adaptin
  • Length: 937  
  • Mass: 104553
  • Tissue specificity: Expressed in the brain (at protein level). {ECO
• Sequence:

  MTDSKYFTTNKKGEIFELKAELNNEKKEKRKEAVKKVIAAMTVGKDVSSLFPDVVNCMQTDNLELKKLVYLYLMN
  YAKSQPDMAIMAVNSFVKDCEDPNPLIRALAVRTMGCIRVDKITEYLCEPLRKCLKDEDPYVRKTAAVCVAKLHD
  INAQMVEDQGFLDSLRDLIADSNPMVVANAVAALSEISESHPNSNLLDLNPQNINKLLTALNECTEWGQIFILDC
  LSNYNPKDDREAQSICERVTPRLSHANSAVVLSAVKVLMKFLELLPKDSDYYNMLLKKLAPPLVTLLSGEPEVQY
  VALRNINLIVQKRPEILKQEIKVFFVKYNDPIYVKLEKLDIMIRLASQANIAQVLAELKEYATEVDVDFVRKAVR
  AIGRCAIKVEQSAERCVSTLLDLIQTKVNYVVQEAIVVIRDIFRKYPNKYESIIATLCENLDSLDEPDARAAMIW
  IVGEYAERIDNADELLESFLEGFHDESTQVQLTLLTAIVKLFLKKPSETQELVQQVLSLATQDSDNPDLRDRGYI
  YWRLLSTDPVTAKEVVLSEKPLISEETDLIEPTLLDELICHIGSLASVYHKPPNAFVEGSHGIHRKHLPIHHGST
  DAGDSPVGTTTATNLEQPQVIPSQGDLLGDLLNLDLGPPVNVPQVSSMQMGAVDLLGGGLDSLVGQSFIPSSVPA
  TFAPSPTPAVVSSGLNDLFELSTGIGMAPGGYVAPKAVWLPAVKAKGLEISGTFTHRQGHIYMEMNFTNKALQHM
  TDFAIQFNKNSFGVIPSTPLAIHTPLMPNQSIDVSLPLNTLGPVMKMEPLNNLQVAVKNNIDVFYFSCLIPLNVL
  FVEDGKMERQVFLATWKDIPNENELQFQIKECHLNADTVSSKLQNNNVYTIAKRNVEGQDMLYQSLKLTNGIWIL
  AELRIQPGNPNYTLSLKCRAPEVSQYIYQVYDSILKN

• Structural information:
  • Interpro: IPR026739  IPR016342  IPR011989  IPR016024  IPR000225   IPR015151  IPR002553  IPR008152  IPR013041  IPR013037  IPR009028  IPR012295  
  • PDB: 1E42 2G30 2IV8 2IV9 2JKR 2JKT 2VGL 2XA7 4UQI 5M5R 6QH5 6QH6 6QH7
  • PDBsum: 1E42 2G30 2IV8 2IV9 2JKR 2JKT 2VGL 2XA7 4UQI 5M5R 6QH5 6QH6 6QH7
  • DIP: 33098
  • STRING: ENSP00000482835
• Other Databases: GeneCards:  AP2B1  Malacards:  AP2B1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045334	clathrin-coated endocytic vesicle	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0030276	clathrin binding	IBA	molecular function
GO:0016192	vesicle-mediated transport	IBA	biological process
GO:0030276	clathrin binding	IPI	molecular function
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0006886	intracellular protein transport	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0030117	membrane coat	IEA	cellular component
GO:0030131	clathrin adaptor complex	IEA	cellular component
GO:0030276	clathrin binding	IEA	molecular function
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0030276	clathrin binding	IDA	molecular function
GO:0030131	clathrin adaptor complex	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS	biological process
GO:0030669	clathrin-coated endocytic vesicle membrane	TAS	cellular component
GO:0032802	low-density lipoprotein particle receptor catabolic process	TAS	biological process
GO:0034383	low-density lipoprotein particle clearance	TAS	biological process
GO:0050690	regulation of defense response to virus by virus	TAS	biological process
GO:0050690	regulation of defense response to virus by virus	TAS	biological process
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0030666	endocytic vesicle membrane	TAS	cellular component
GO:0036020	endolysosome membrane	TAS	cellular component
GO:0036020	endolysosome membrane	TAS	cellular component
GO:0036020	endolysosome membrane	TAS	cellular component
GO:0036020	endolysosome membrane	TAS	cellular component
GO:0036020	endolysosome membrane	TAS	cellular component
GO:0048013	ephrin receptor signaling pathway	TAS	biological process
GO:0061024	membrane organization	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003279	cardiac septum development	IEA	biological process
GO:0003281	ventricular septum development	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0035904	aorta development	IEA	biological process
GO:0072583	clathrin-dependent endocytosis	IEA	biological process
GO:0098884	postsynaptic neurotransmitter receptor internalization	IEA	biological process
GO:0099590	neurotransmitter receptor internalization	IEA	biological process
GO:0030118	clathrin coat	IEA	cellular component
GO:0030276	clathrin binding	IEA	molecular function
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0048268	clathrin coat assembly	IEA	biological process
GO:1905477	positive regulation of protein localization to membrane	IEA	biological process
GO:0030122	AP-2 adaptor complex	IEA	cellular component
GO:0060976	coronary vasculature development	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0045807	positive regulation of endocytosis	IEA	biological process
GO:1901215	negative regulation of neuron death	IEA	biological process
GO:0005048	signal sequence binding	TAS	molecular function
GO:0035615	clathrin adaptor activity	TAS	contributes to
GO:0030276	clathrin binding	TAS	molecular function
GO:0030122	AP-2 adaptor complex	TAS	cellular component
GO:0072583	clathrin-dependent endocytosis	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0098794	postsynapse	IEA	cellular component
GO:0030122	AP-2 adaptor complex	IMP	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0072583	clathrin-dependent endocytosis	IDA	biological process
GO:0030122	AP-2 adaptor complex	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05016	Huntington disease
hsa04144	Endocytosis
hsa04721	Synaptic vesicle cycle
hsa04961	Endocrine and other factor-regulated calcium reabsorption

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq