ENSMUSG00000035152


Mus musculus

Features
Gene ID: ENSMUSG00000035152
  
Biological name :Ap2b1
  
Synonyms : Ap2b1 / AP-2 complex subunit beta / Q9DBG3
  
Possible biological names infered from orthology : adaptor related protein complex 2 beta 1 subunit / P63010
  
Species: Mus musculus
  
Chr. number: 11
Strand: 1
Band: C
Gene start: 83299024
Gene end: 83405035
  
Corresponding Affymetrix probe sets: 10379654 (MoGene1.0st)   1427077_a_at (Mouse Genome 430 2.0 Array)   1427696_at (Mouse Genome 430 2.0 Array)   1445142_at (Mouse Genome 430 2.0 Array)   1452292_at (Mouse Genome 430 2.0 Array)   1458971_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000116562
Ensembl peptide - ENSMUSP00000018875
Ensembl peptide - ENSMUSP00000070714
Ensembl peptide - ENSMUSP00000135445
Ensembl peptide - ENSMUSP00000134779
Ensembl peptide - ENSMUSP00000134798
NCBI entrez gene - 71770     See in Manteia.
MGI - MGI:1919020
RefSeq - NM_027915
RefSeq - XM_017314772
RefSeq - XM_006534258
RefSeq - NM_001035854
RefSeq Peptide - NP_082191
RefSeq Peptide - NP_001030931
swissprot - H3BJ06
swissprot - Q5SWR0
swissprot - Q5SWR1
swissprot - Q9DBG3
swissprot - H3BIY9
swissprot - H3BKM0
Ensembl - ENSMUSG00000035152
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ap2b1ENSDARG00000035152Danio rerio
 AP2B1ENSGALG00000042125Gallus gallus
 AP2B1ENSG00000006125Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Ap1b1 / O35643 / Mus musculus adaptor protein complex AP-1, beta 1 subunit (Ap1b1), transcript variant 4, mRNA. / Q10567* / adaptor related protein complex 1 beta 1 subunit*ENSMUSG0000000909083
Ap4b1 / Q9WV76 / AP-4 complex subunit beta-1 / Q9Y6B7* / adaptor related protein complex 4 beta 1 subunit*ENSMUSG0000003295221
Gm43064 / AP4B1* / Q9Y6B7* / adaptor related protein complex 4 beta 1 subunit*ENSMUSG0000010505318


Protein motifs (from Interpro)
Interpro ID Name
 IPR000225  Armadillo
 IPR002553  Clathrin/coatomer adaptor, adaptin-like, N-terminal
 IPR008152  Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain
 IPR009028  Coatomer/calthrin adaptor appendage, C-terminal subdomain
 IPR011989  Armadillo-like helical
 IPR013037  Clathrin adaptor, beta-adaptin, appendage, Ig-like subdomain
 IPR013041  Clathrin adaptor, appendage, Ig-like subdomain superfamily
 IPR015151  Beta-adaptin appendage, C-terminal subdomain
 IPR016024  Armadillo-type fold
 IPR016342  AP-1/2/4 complex subunit beta
 IPR026739  AP complex subunit beta


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003279 cardiac septum development IMP
 biological_processGO:0003281 ventricular septum development IMP
 biological_processGO:0006886 intracellular protein transport IEA
 biological_processGO:0006897 endocytosis IEA
 biological_processGO:0007507 heart development IMP
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0016192 vesicle-mediated transport IEA
 biological_processGO:0035904 aorta development IMP
 biological_processGO:0045807 positive regulation of endocytosis IEA
 biological_processGO:0048268 clathrin coat assembly IEA
 biological_processGO:0060976 coronary vasculature development IMP
 biological_processGO:0099590 neurotransmitter receptor internalization IMP
 biological_processGO:1901215 negative regulation of neuron death IEA
 biological_processGO:1905477 positive regulation of protein localization to membrane IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005802 trans-Golgi network IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005905 clathrin-coated pit IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030117 membrane coat IEA
 cellular_componentGO:0030118 clathrin coat IEA
 cellular_componentGO:0030122 AP-2 adaptor complex IEA
 cellular_componentGO:0030131 clathrin adaptor complex IEA
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0030276 clathrin binding IEA


Pathways (from Reactome)
Pathway description
Retrograde neurotrophin signalling
MHC class II antigen presentation
Trafficking of GluR2-containing AMPA receptors
Recycling pathway of L1
WNT5A-dependent internalization of FZD4
WNT5A-dependent internalization of FZD2, FZD5 and ROR2
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
VLDLR internalisation and degradation
LDL clearance


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000111 cleft palate "congenital fissure of the tissues normally uniting to form the palate" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
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Allelic Composition: Lmx1atm1Ics/Lmx1atm1Ics,Lmx1btm1Rjo/Lmx1b+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Ap2b1Tg(Tyr)427Ove/Ap2b1Tg(Tyr)427Ove
Genetic Background: FVB/NJ-Ap2b1Tg(Tyr)427Ove

Allelic Composition: Ap2b1b2b2321Clo/Ap2b1b2b2321Clo
Genetic Background: C57BL/6J-Ap2b1b2b2321Clo

 MP:0000273 overriding aorta "congenitally mispositioned aorta where the origin straddles the ventral septum and so receives ejected blood from the right ventricle as well as the left." [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cml, J:67826]
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Allelic Composition: Ap2b1b2b2321Clo/Ap2b1b2b2321Clo
Genetic Background: C57BL/6J-Ap2b1b2b2321Clo

 MP:0000276 right ventricle hypertrophy "increased size of the right ventricle" [J:33629]
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Allelic Composition: Ap2b1b2b2321Clo/Ap2b1b2b2321Clo
Genetic Background: C57BL/6J-Ap2b1b2b2321Clo

 MP:0001399 hyperactivity "general restlessness or excessive movement; more frequent movement from one place to another" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409, J:57125]
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Allelic Composition: Adgrv1mpc188H/Adgrv1mpc188H
Genetic Background: involves: BALB/c * C3H/HeH * C57BL/6J

 MP:0001823 thymus hypoplasia "small size due to reduced cell number in the thymus" [J:23255]
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Allelic Composition: Ap2b1b2b2321Clo/Ap2b1b2b2321Clo
Genetic Background: C57BL/6J-Ap2b1b2b2321Clo

 MP:0002625 left ventricle hypertrophy "increased size of the left ventricle" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Ap2b1b2b2321Clo/Ap2b1b2b2321Clo
Genetic Background: C57BL/6J-Ap2b1b2b2321Clo

 MP:0002639 micrognathia "abnormally reduced size of the jaws, especially of the mandible" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Ap2b1b2b2321Clo/Ap2b1b2b2321Clo
Genetic Background: C57BL/6J-Ap2b1b2b2321Clo

 MP:0004113 abnormal aortic arch morphology "structural anomoly of the portion of the descending aorta proceeding from the arch of the aorta and extending to the diaphragm " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Ap2b1b2b2321Clo/Ap2b1b2b2321Clo
Genetic Background: C57BL/6J-Ap2b1b2b2321Clo

 MP:0004158 right aortic arch "the aortic arch lies to the right of the trachea and esophagus; results from persistance of the entire right dorsal arch and involution of a segment of the left arch" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Ap2b1b2b2321Clo/Ap2b1b2b2321Clo
Genetic Background: C57BL/6J-Ap2b1b2b2321Clo

 MP:0009887 abnormal palatal shelf fusion at midline "any anomaly in the process in which the palatal shelves grow toward the midline and adhere along the medial edge epithelia, forming the midline epithelial seam which disappears in later stages" [PMID:16942766]
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Allelic Composition: Ap2b1Tg(Tyr)427Ove/Ap2b1Tg(Tyr)427Ove
Genetic Background: FVB/NJ-Ap2b1Tg(Tyr)427Ove

 MP:0010412 atrioventricular septal defect "defects in the thin membranous structure between the right atrium and left ventricle that arise from faulty development of the embryonic endocardial cushions; the spectrum ranges from a primum atrial septal defect and cleft mitral valve, known as a partial atrioventricular septal defect (partial AVSD), to defects of both the primum atrial septum and inlet ventricular septum and the presence of a common atrioventricular valve, referred to as complete atrioventricular septal defect (complete AVSD)" [http://emedicine.medscape.com]
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Allelic Composition: Ap2b1b2b2321Clo/Ap2b1b2b2321Clo
Genetic Background: C57BL/6J-Ap2b1b2b2321Clo

 MP:0010418 perimembraneous ventricular septal defect "abnormal communications between the two lower chambers of the heart, occurring in the membranous septum with defects in the adjacent muscular portion of the septum; it is generally located in the LV outflow tract just below the aortic valve, associated with pouches or aneurysms of the septal leaflet of the tricuspid valve, which may partially or completely close the defect; an LV-to-RA shunt may also be associated with this defect" [http://emedicine.medscape.com]
Show

Allelic Composition: Ap2b1b2b2321Clo/Ap2b1b2b2321Clo
Genetic Background: C57BL/6J-Ap2b1b2b2321Clo

 MP:0011667 double outlet right ventricle with atrioventricular septal defect "a form of DORV in which there is also a complete atrioventricular canal" [MGI:csmith]
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Allelic Composition: Ap2b1b2b2321Clo/Ap2b1b2b2321Clo
Genetic Background: C57BL/6J-Ap2b1b2b2321Clo

 MP:0011668 double outlet right ventricle, Taussig bing type "a form of DORV in which blood from the left ventricle passes through a ventricular septal defect to the pulmonary artery, and blood from the right ventricle is directed to the aorta" [MGI:csmith]
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Allelic Composition: Ap2b1b2b2321Clo/Ap2b1b2b2321Clo
Genetic Background: C57BL/6J-Ap2b1b2b2321Clo

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000002957 Ap2a2 / P17427 / Mus musculus adaptor-related protein complex 2, alpha 2 subunit (Ap2a2), transcript variant 1, mRNA. / O94973* / adaptor related protein complex 2 alpha 2 subunit*  / complex
 ENSMUSG00000022841 Ap2m1 / P84091 / AP-2 complex subunit mu / Q96CW1* / adaptor related protein complex 2 mu 1 subunit*  / complex
 ENSMUSG00000020888 Dvl2 / Q60838 / Segment polarity DVL-2 / O14641* / dishevelled segment polarity protein 2*  / complex / reaction
 ENSMUSG00000024610 Cd74 / P04441 / CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated) / P04233* / CD74 molecule*  / complex / reaction
 ENSMUSG00000073421 H2-Ab1 / P14483 / histocompatibility 2, class II antigen A, beta 1 / P05538* / HLA-DQB1* / HLA-DQB2* / major histocompatibility complex, class II, DQ beta 1* / major histocompatibility comp...  / complex / reaction
 ENSMUSG00000049791 Fzd4 / Q61088 / Frizzled-4 / Q9ULV1* / frizzled class receptor 4*  / reaction / complex
 ENSMUSG00000036594 H2-Aa / P14434 / H-2 class II histocompatibility antigen, A-B alpha chain / P01909* / P01906* / HLA-DQA2* / HLA-DQA1* / major histocompatibility complex, class II, DQ alpha 2* / major hist...  / complex / reaction
 ENSMUSG00000008036 Ap2s1 / P62743 / AP-2 complex subunit sigma / P53680* / adaptor related protein complex 2 sigma 1 subunit*  / complex
 ENSMUSG00000028488 Q62420 / Sh3gl2 / SH3-domain GRB2-like 2 / Q99962* / SH3 domain containing GRB2 like 2, endophilin A1*  / complex / reaction
 ENSMUSG00000021994 Wnt5a / P22725 / wingless-type MMTV integration site family, member 5A / P41221* / Wnt family member 5A*  / reaction / complex
 ENSMUSG00000001986 Gria3 / Q9Z2W9 / Mus musculus glutamate receptor, ionotropic, AMPA3 (alpha 3) (Gria3), transcript variant 5, mRNA. / P42263* / glutamate ionotropic receptor AMPA type subunit 3*  / reaction
 ENSMUSG00000060216 Arrb2 / Q91YI4 / Beta-arrestin-2 / P32121* / arrestin beta 2*  / complex / reaction
 ENSMUSG00000047547 Cltb / Q6IRU5 / Clathrin light chain B / P09497*  / complex
 ENSMUSG00000025892 Gria4 / Q9Z2W8 / glutamate receptor, ionotropic, AMPA4 (alpha 4) / P48058* / glutamate ionotropic receptor AMPA type subunit 4*  / reaction
 ENSMUSG00000035152 Ap2b1 / Q9DBG3 / AP-2 complex subunit beta / P63010* / adaptor related protein complex 2 beta 1 subunit*  / complex
 ENSMUSG00000060279 Ap2a1 / P17426 / AP-2 complex subunit alpha-1 / O95782* / adaptor related protein complex 2 alpha 1 subunit*  / complex
 ENSMUSG00000020524 Gria1 / P23818 / Glutamate receptor 1 / P42261* / glutamate ionotropic receptor AMPA type subunit 1*  / reaction
 ENSMUSG00000060586 H2-Eb1 / Q9GIY3* / P01911* / P04229* / Q29974* / Q30154* / HLA-DRB5* / HLA-DRB1* / major histocompatibility complex, class II, DR beta 1* / major histocompatibility complex, class II, DR beta 5*  / complex / reaction
 ENSMUSG00000067341 H2-Eb2 / Q9GIY3* / P01911* / P04229* / Q29974* / Q30154* / HLA-DRB5* / HLA-DRB1* / major histocompatibility complex, class II, DR beta 1* / major histocompatibility complex, class II, DR beta 5*  / complex / reaction
 ENSMUSG00000068206 Pick1 / protein interacting with C kinase 1 / Q9NRD5* / protein interacting with PRKCA 1*  / reaction
 ENSMUSG00000022420 Dnal4 / Q9DCM4 / Dynein light chain 4, axonemal / O96015* / dynein axonemal light chain 4*  / reaction
 ENSMUSG00000024924 Vldlr / P98156 / very low density lipoprotein receptor / P98155*  / reaction / complex
 ENSMUSG00000032193 Ldlr / P35951 / Low-density lipoprotein receptor / P01130*  / complex / reaction
 ENSMUSG00000028072 Ntrk1 / Q3UFB7 / High affinity nerve growth factor receptor / P04629* / neurotrophic receptor tyrosine kinase 1*  / complex
 ENSMUSG00000027859 Ngf / P01139 / Beta-nerve growth factor / P01138* / nerve growth factor*  / complex
 ENSMUSG00000034813 Grip1 / Q925T6 / Glutamate receptor-interacting protein 1 / Q9Y3R0*  / reaction
 ENSMUSG00000034311 Kif4 / P33174 / Chromosome-associated kinesin KIF4 / KIF4A* / KIF4B* / Q2VIQ3* / O95239* / kinesin family member 4B* / kinesin family member 4A*  / complex
 ENSMUSG00000063358 Mapk1 / P63085 / Mus musculus mitogen-activated protein kinase 1 (Mapk1), transcript variant 3, mRNA. / P28482* / mitogen-activated protein kinase 1*  / reaction / complex
 ENSMUSG00000044254 Pcsk9 / Q80W65 / Proprotein convertase subtilisin/kexin type 9 / Q8NBP7*  / reaction / complex






 

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