Human Gene AP2A2 (ENST00000448903.7_11) from GENCODE V47lift37
  Description: adaptor related protein complex 2 subunit alpha 2, transcript variant 2 (from RefSeq NM_012305.4)
Gencode Transcript: ENST00000448903.7_11
Gencode Gene: ENSG00000183020.15_19
Transcript (Including UTRs)
   Position: hg19 chr11:925,870-1,012,240 Size: 86,371 Total Exon Count: 22 Strand: +
Coding Region
   Position: hg19 chr11:926,022-1,010,625 Size: 84,604 Coding Exon Count: 22 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:925,870-1,012,240)mRNA (may differ from genome)Protein (939 aa)
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-  Comments and Description Text from UniProtKB
  ID: AP2A2_HUMAN
DESCRIPTION: RecName: Full=AP-2 complex subunit alpha-2; AltName: Full=100 kDa coated vesicle protein C; AltName: Full=Adapter-related protein complex 2 alpha-2 subunit; AltName: Full=Adaptor protein complex AP-2 subunit alpha-2; AltName: Full=Alpha-adaptin C; AltName: Full=Alpha2-adaptin; AltName: Full=Clathrin assembly protein complex 2 alpha-C large chain; AltName: Full=Huntingtin yeast partner J; AltName: Full=Huntingtin-interacting protein 9; Short=HIP-9; AltName: Full=Huntingtin-interacting protein J; AltName: Full=Plasma membrane adaptor HA2/AP2 adaptin alpha C subunit;
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. The AP-2 alpha subunit binds polyphosphoinositide-containing lipids, positioning AP-2 on the membrane. The AP-2 alpha subunit acts via its C- terminal appendage domain as a scaffolding platform for endocytic accessory proteins. The AP-2 alpha and AP-2 sigma subunits are thought to contribute to the recognition of the [ED]-X-X-X-L-[LI] motif (By similarity).
SUBUNIT: 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). Binds EPN1, EPS15, AMPH, SNAP91 and BIN1. Interacts with HIP1. Interacts with DGKD isoform 2 (By similarity). Interacts with DENND1A, DENND1B and DENND1C (By similarity). Interacts with FCHO1 and DAB2.
INTERACTION: P98078:Dab2 (xeno); NbExp=2; IntAct=EBI-1642835, EBI-1391846;
SUBCELLULAR LOCATION: Cell membrane (By similarity). Membrane, coated pit; Peripheral membrane protein; Cytoplasmic side (By similarity). Note=AP-2 appears to be excluded from internalizing CCVs and to disengage from sites of endocytosis seconds before internalization of the nascent CCV (By similarity).
SIMILARITY: Belongs to the adaptor complexes large subunit family.

-  Primer design for this transcript
 

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-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 55.81 RPKM in Brain - Cerebellum
Total median expression: 948.46 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -83.70152-0.551 Picture PostScript Text
3' UTR -729.401615-0.452 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017104 - AP2_complex_asu
IPR011989 - ARM-like
IPR016024 - ARM-type_fold
IPR002553 - Clathrin/coatomer_adapt-like_N
IPR013038 - Clathrin_a-adaptin_app_Ig-like
IPR003164 - Clathrin_a-adaptin_app_sub_C
IPR008152 - Clathrin_a/b/g-adaptin_app_Ig
IPR015873 - Clathrin_a/coatomer_app_sub_C
IPR009028 - Coatomer/calthrin_app_sub_C
IPR013041 - Coatomer/clathrin_app_Ig-like

Pfam Domains:
PF01602 - Adaptin N terminal region
PF02296 - Alpha adaptin AP2, C-terminal domain
PF02883 - Adaptin C-terminal domain
PF12717 - non-SMC mitotic condensation complex subunit 1

SCOP Domains:
48371 - ARM repeat
48431 - Lipovitellin-phosvitin complex, superhelical domain
48464 - ENTH/VHS domain
49348 - Clathrin adaptor appendage domain
55711 - Subdomain of clathrin and coatomer appendage domain

ModBase Predicted Comparative 3D Structure on O94973
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0005515 protein binding
GO:0008289 lipid binding
GO:0019901 protein kinase binding
GO:0019904 protein domain specific binding
GO:0035615 clathrin adaptor activity
GO:0097718 disordered domain specific binding

Biological Process:
GO:0006886 intracellular protein transport
GO:0006897 endocytosis
GO:0015031 protein transport
GO:0016192 vesicle-mediated transport
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II
GO:0032802 low-density lipoprotein particle receptor catabolic process
GO:0034383 low-density lipoprotein particle clearance
GO:0043312 neutrophil degranulation
GO:0048013 ephrin receptor signaling pathway
GO:0050690 regulation of defense response to virus by virus
GO:0060071 Wnt signaling pathway, planar cell polarity pathway
GO:0061024 membrane organization
GO:0072583 clathrin-dependent endocytosis

Cellular Component:
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005905 clathrin-coated pit
GO:0016020 membrane
GO:0030117 membrane coat
GO:0030122 AP-2 adaptor complex
GO:0030131 clathrin adaptor complex
GO:0030666 endocytic vesicle membrane
GO:0030667 secretory granule membrane
GO:0030669 clathrin-coated endocytic vesicle membrane
GO:0031410 cytoplasmic vesicle
GO:0036020 endolysosome membrane
GO:0045334 clathrin-coated endocytic vesicle
GO:0101003 ficolin-1-rich granule membrane


-  Descriptions from all associated GenBank mRNAs
  AK001986 - Homo sapiens cDNA FLJ11124 fis, clone PLACE1006170, highly similar to Adapter-related protein complex 2 alpha- 2 subunit.
AK223558 - Homo sapiens mRNA for adaptor-related protein complex 2, alpha 2 subunit variant, clone: FCC127E07.
BC006155 - Homo sapiens adaptor-related protein complex 2, alpha 2 subunit, mRNA (cDNA clone MGC:13188 IMAGE:3627239), complete cds.
AK027891 - Homo sapiens cDNA FLJ14985 fis, clone Y79AA1000560, highly similar to ALPHA-ADAPTIN C.
AK293763 - Homo sapiens cDNA FLJ57955 complete cds, highly similar to Adapter-relatedprotein complex 2 alpha- 2 subunit.
CU675277 - Synthetic construct Homo sapiens gateway clone IMAGE:100017854 5' read AP2A2 mRNA.
DQ896779 - Synthetic construct Homo sapiens clone IMAGE:100011239; FLH199439.01L; RZPDo839H0581D adaptor-related protein complex 2, alpha 2 subunit (AP2A2) gene, encodes complete protein.
AB384039 - Synthetic construct DNA, clone: pF1KSDA0899, Homo sapiens AP2A2 gene for AP-2 complex subunit alpha-2, complete cds, without stop codon, in Flexi system.
KJ896394 - Synthetic construct Homo sapiens clone ccsbBroadEn_05788 AP2A2 gene, encodes complete protein.
DQ893441 - Synthetic construct clone IMAGE:100006071; FLH199532.01X; RZPDo839H0582D adaptor-related protein complex 2, alpha 2 subunit (AP2A2) gene, encodes complete protein.
AB020706 - Homo sapiens KIAA0899 mRNA for KIAA0899 protein.
AK299364 - Homo sapiens cDNA FLJ61359 complete cds, highly similar to Adapter-relatedprotein complex 2 alpha- 2 subunit.
AK075497 - Homo sapiens cDNA PSEC0195 fis, clone HEMBA1001322, highly similar to ALPHA-ADAPTIN C.
AB209422 - Homo sapiens mRNA for adaptor-related protein complex 2, alpha 2 subunit variant protein.
LF207972 - JP 2014500723-A/15475: Polycomb-Associated Non-Coding RNAs.
AF049527 - Homo sapiens alpha-adaptin C mRNA, partial cds.
LF370610 - JP 2014500723-A/178113: Polycomb-Associated Non-Coding RNAs.
AK027640 - Homo sapiens cDNA FLJ14734 fis, clone NT2RP3002045, highly similar to ALPHA-ADAPTIN C.
LF370611 - JP 2014500723-A/178114: Polycomb-Associated Non-Coding RNAs.
AL117614 - Homo sapiens mRNA; cDNA DKFZp564D1864 (from clone DKFZp564D1864).
AK095725 - Homo sapiens cDNA FLJ38406 fis, clone FEBRA2008836.
AK094496 - Homo sapiens cDNA FLJ37177 fis, clone BRACE2028636.
JD207253 - Sequence 188277 from Patent EP1572962.
JD233728 - Sequence 214752 from Patent EP1572962.
JD461676 - Sequence 442700 from Patent EP1572962.
JD405659 - Sequence 386683 from Patent EP1572962.
JD407976 - Sequence 389000 from Patent EP1572962.
MA606187 - JP 2018138019-A/178113: Polycomb-Associated Non-Coding RNAs.
MA606188 - JP 2018138019-A/178114: Polycomb-Associated Non-Coding RNAs.
MA443549 - JP 2018138019-A/15475: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O94973 (Reactome details) participates in the following event(s):

R-HSA-6800426 Exocytosis of ficolin-rich granule membrane proteins
R-HSA-6798743 Exocytosis of secretory granule membrane proteins
R-HSA-443783 Interaction of NUMB with L1
R-HSA-167537 Formation of CD4:Nef:AP-2 Complex:v-ATPase Complex
R-HSA-182186 Formation of CD8:Nef:AP-2 Complex:v-ATPase Complex
R-HSA-8856808 Recruitment of AP-2 complex and clathrin
R-HSA-8866277 AP-2 directly binds some endocytic cargo
R-HSA-8871196 Initial binding of AP-2 and clathrin to PI(4,5)P2
R-HSA-177491 Formation of clathrin-coated vesicle
R-HSA-392748 L1 binds to AP-2 Clathrin complex
R-HSA-2130640 Recruitment of clathrin coated vesicle by Ii
R-HSA-6784735 PCSK9:LDLR bind to Clathrin
R-HSA-8855131 VLDLR:PCSK9 binds Clathrin-coated vesicles
R-HSA-445071 Reinsertion of L1 into the plasma membrane
R-HSA-167597 Internalization of the CD4:Nef:AP-2 Complex:v-ATPase Complex
R-HSA-182198 Internalization of the CD8:Nef:AP-2 Complex:v-ATPase Complex
R-HSA-5138433 p-DVL2 recruits AP-2 and beta-arrestin 2 to promote clathrin-mediated endocytosis
R-HSA-8856813 AAK1 phosphorylates AP-2 mu subunit at T156
R-HSA-8862280 FCHo proteins bind nascent clathrin-coated pit
R-HSA-8866283 ARBB recruits GPCRs into clathrin-coated pits
R-HSA-8867756 CLASP proteins and cargo are recruited to the nascent clathrin-coated pit
R-HSA-8871194 RAB5 and GAPVD1 bind AP-2
R-HSA-8868658 HSPA8-mediated ATP hydrolysis promotes vesicle uncoating
R-HSA-8868659 Clathrin recruits auxilins to the clathrin-coated vesicle
R-HSA-8868661 Dynamin-mediated GTP hydrolysis promotes vesicle scission
R-HSA-8868660 Auxilin recruits HSPA8:ATP to the clathrin-coated vesicle
R-HSA-8868648 SYNJ hydrolyze PI(4,5)P2 to PI(4)P
R-HSA-2130486 Uncoating of clathrin-coated vesicles and fusion with endosomes
R-HSA-177479 Axonal transport of NGF:Trk complexes
R-HSA-177501 Endocytosis (internalization) of clathrin-coated vesicle
R-HSA-374696 Phosphorylation of L1 by p90rsk
R-HSA-392749 Transport of L1 into endosomes
R-HSA-555065 Formation of clathrin coated vesicle
R-HSA-445077 Transport of L1 from C-domain to P-domain
R-HSA-445079 Phosphorylation of L1 by ERK
R-HSA-6784729 PCSK9:LDLR:Clathrin-coated vesicle transport from plasma membrane to endolysosome
R-HSA-8868071 Clathrin recruits PIK3C2A
R-HSA-8868230 SNX9 recruits components of the actin polymerizing machinery
R-HSA-8867754 F- and N- BAR domain proteins bind the clathrin-coated pit
R-HSA-8866279 Epsin family proteins bind ubiquitinated cargo
R-HSA-8868236 BAR domain proteins recruit dynamin
R-HSA-8868072 Clathrin-associated PIK3C2A phosphorylates PI(4)P to PI(3,4)P2
R-HSA-8868651 Endophilins recruit synaptojanins to the clathrin-coated pit
R-HSA-6798695 Neutrophil degranulation
R-HSA-437239 Recycling pathway of L1
R-HSA-168249 Innate Immune System
R-HSA-167590 Nef Mediated CD4 Down-regulation
R-HSA-182218 Nef Mediated CD8 Down-regulation
R-HSA-3928665 EPH-ephrin mediated repulsion of cells
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-177504 Retrograde neurotrophin signalling
R-HSA-2132295 MHC class II antigen presentation
R-HSA-8964038 LDL clearance
R-HSA-8866427 VLDLR internalisation and degradation
R-HSA-373760 L1CAM interactions
R-HSA-168256 Immune System
R-HSA-5099900 WNT5A-dependent internalization of FZD4
R-HSA-164938 Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters
R-HSA-2682334 EPH-Ephrin signaling
R-HSA-199991 Membrane Trafficking
R-HSA-187037 Signaling by NTRK1 (TRKA)
R-HSA-1280218 Adaptive Immune System
R-HSA-8964043 Plasma lipoprotein clearance
R-HSA-422475 Axon guidance
R-HSA-4086400 PCP/CE pathway
R-HSA-164952 The role of Nef in HIV-1 replication and disease pathogenesis
R-HSA-5653656 Vesicle-mediated transport
R-HSA-166520 Signaling by NTRKs
R-HSA-174824 Plasma lipoprotein assembly, remodeling, and clearance
R-HSA-1266738 Developmental Biology
R-HSA-3858494 Beta-catenin independent WNT signaling
R-HSA-162909 Host Interactions of HIV factors
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-382551 Transport of small molecules
R-HSA-195721 Signaling by WNT
R-HSA-162906 HIV Infection
R-HSA-162582 Signal Transduction
R-HSA-5663205 Infectious disease
R-HSA-1643685 Disease
R-HSA-421007 Endocytosis of Ca impermeable AMPA receptors
R-HSA-416639 Trafficking of GluR2-containing AMPA receptors to extrasynaptic sites
R-HSA-416993 Trafficking of GluR2-containing AMPA receptors
R-HSA-399719 Trafficking of AMPA receptors
R-HSA-399721 Glutamate binding, activation of AMPA receptors and synaptic plasticity
R-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: ADTAB, AP2A2_HUMAN, CLAPA2, ENST00000448903.1, ENST00000448903.2, ENST00000448903.3, ENST00000448903.4, ENST00000448903.5, ENST00000448903.6, HIP9, HYPJ, KIAA0899, NM_012305, O75403, O94973, Q53ET1, Q96SI8, uc320qko.1, uc320qko.2
UCSC ID: ENST00000448903.7_11
RefSeq Accession: NM_012305.4
Protein: O94973 (aka AP2A2_HUMAN or A2A2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.