Human Gene GGA2 (ENST00000309859.8) from GENCODE V44
  Description: Homo sapiens golgi associated, gamma adaptin ear containing, ARF binding protein 2 (GGA2), mRNA. (from RefSeq NM_015044)
RefSeq Summary (NM_015044): This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. This family member may play a significant role in cargo molecules regulation and clathrin-coated vesicle assembly. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Gencode Transcript: ENST00000309859.8
Gencode Gene: ENSG00000103365.15
Transcript (Including UTRs)
   Position: hg38 chr16:23,463,542-23,510,494 Size: 46,953 Total Exon Count: 17 Strand: -
Coding Region
   Position: hg38 chr16:23,467,590-23,510,411 Size: 42,822 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:23,463,542-23,510,494)mRNA (may differ from genome)Protein (613 aa)
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-  Comments and Description Text from UniProtKB
  ID: GGA2_HUMAN
DESCRIPTION: RecName: Full=ADP-ribosylation factor-binding protein GGA2; AltName: Full=Gamma-adaptin-related protein 2; AltName: Full=Golgi-localized, gamma ear-containing, ARF-binding protein 2; AltName: Full=VHS domain and ear domain of gamma-adaptin; Short=Vear;
FUNCTION: Plays a role in protein sorting and trafficking between the trans-Golgi network (TGN) and endosomes. Mediates the ARF- dependent recruitment of clathrin to the TGN and binds ubiquitinated proteins and membrane cargo molecules with a cytosolic acidic cluster-dileucine (AC-LL) motif.
SUBUNIT: Monomer. Interacts with NECAP1, TSG101, UBC and AFTPH/aftiphilin. Interacts with CNST (By similarity). Interacts with GGA1 and GGA3. Binds to clathrin and activated ARFs. Binds RABEP1 and RABGEF1. Interacts with the type-I membrane proteins SORT1, SORL1, LRP3, M6PR/CD-MPR, IGF2R/CI-MPR and BACE1. Binds the accessory proteins CCDC91, P200, SYNRG, EPN4 and NECAP2.
INTERACTION: Q15276:RABEP1; NbExp=6; IntAct=EBI-447646, EBI-447043;
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein. Endosome membrane; Peripheral membrane protein.
TISSUE SPECIFICITY: Ubiquitously expressed.
DOMAIN: The VHS domain functions as a recognition module for sorting signals composed of an acidic cluster followed by two leucines (AC-LL motif).
DOMAIN: The GAT domain is responsible for interaction with ARF- GTP, UBC and RABEP1. Required for recruitment to the TGN it prevents ARF-GTP hydrolysis.
DOMAIN: The unstructured hinge region contains clathrin-binding but no autoinhibitory (AC-LL) motifs.
DOMAIN: The GAE domain binds accessory proteins regulating GGAs function.
PTM: Ubiquitinated (By similarity).
SIMILARITY: Belongs to the GGA protein family.
SIMILARITY: Contains 1 GAE domain.
SIMILARITY: Contains 1 GAT domain.
SIMILARITY: Contains 1 VHS domain.
SEQUENCE CAUTION: Sequence=AAK38634.1; Type=Frameshift; Positions=193;

-  Primer design for this transcript
 

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-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 40.25 RPKM in Spleen
Total median expression: 851.51 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 -36.2083-0.436 Picture PostScript Text
3' UTR -1366.804048-0.338 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
IPR008152 - Clathrin_a/b/g-adaptin_app_Ig
IPR008153 - Clathrin_g-adaptin_app
IPR013041 - Coatomer/clathrin_app_Ig-like
IPR008942 - ENTH_VHS
IPR004152 - GAT
IPR002014 - VHS
IPR018205 - VHS_subgr

Pfam Domains:
PF02883 - Adaptin C-terminal domain
PF03127 - GAT domain
PF00790 - VHS domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1MHQ - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9UJY4
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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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0030306 ADP-ribosylation factor binding

Biological Process:
GO:0006886 intracellular protein transport
GO:0015031 protein transport
GO:0016192 vesicle-mediated transport
GO:0044267 cellular protein metabolic process

Cellular Component:
GO:0005622 intracellular
GO:0005768 endosome
GO:0005794 Golgi apparatus
GO:0005802 trans-Golgi network
GO:0010008 endosome membrane
GO:0016020 membrane
GO:0030131 clathrin adaptor complex
GO:0030136 clathrin-coated vesicle
GO:0031901 early endosome membrane


-  Descriptions from all associated GenBank mRNAs
  JD477195 - Sequence 458219 from Patent EP1572962.
BC050620 - Homo sapiens golgi associated, gamma adaptin ear containing, ARF binding protein 2, mRNA (cDNA clone IMAGE:5217397), with apparent retained intron.
AB029003 - Homo sapiens mRNA for KIAA1080 protein, partial cds.
JD063317 - Sequence 44341 from Patent EP1572962.
JD515787 - Sequence 496811 from Patent EP1572962.
JD488958 - Sequence 469982 from Patent EP1572962.
JD227543 - Sequence 208567 from Patent EP1572962.
JD224921 - Sequence 205945 from Patent EP1572962.
JD050568 - Sequence 31592 from Patent EP1572962.
JD265404 - Sequence 246428 from Patent EP1572962.
JD550118 - Sequence 531142 from Patent EP1572962.
JD428194 - Sequence 409218 from Patent EP1572962.
JD557603 - Sequence 538627 from Patent EP1572962.
JD452542 - Sequence 433566 from Patent EP1572962.
JD288457 - Sequence 269481 from Patent EP1572962.
JD364275 - Sequence 345299 from Patent EP1572962.
JD530424 - Sequence 511448 from Patent EP1572962.
JD046622 - Sequence 27646 from Patent EP1572962.
JD512052 - Sequence 493076 from Patent EP1572962.
JD287030 - Sequence 268054 from Patent EP1572962.
JD319637 - Sequence 300661 from Patent EP1572962.
JD517755 - Sequence 498779 from Patent EP1572962.
JD074290 - Sequence 55314 from Patent EP1572962.
JD362580 - Sequence 343604 from Patent EP1572962.
JD287029 - Sequence 268053 from Patent EP1572962.
JD335449 - Sequence 316473 from Patent EP1572962.
JD431060 - Sequence 412084 from Patent EP1572962.
JD422227 - Sequence 403251 from Patent EP1572962.
JD498369 - Sequence 479393 from Patent EP1572962.
JD199736 - Sequence 180760 from Patent EP1572962.
JD472654 - Sequence 453678 from Patent EP1572962.
JD296460 - Sequence 277484 from Patent EP1572962.
JD182170 - Sequence 163194 from Patent EP1572962.
JD317982 - Sequence 299006 from Patent EP1572962.
JD202434 - Sequence 183458 from Patent EP1572962.
JD253508 - Sequence 234532 from Patent EP1572962.
JD107665 - Sequence 88689 from Patent EP1572962.
JD505980 - Sequence 487004 from Patent EP1572962.
JD058803 - Sequence 39827 from Patent EP1572962.
JD070730 - Sequence 51754 from Patent EP1572962.
JD070731 - Sequence 51755 from Patent EP1572962.
JD308414 - Sequence 289438 from Patent EP1572962.
JD515270 - Sequence 496294 from Patent EP1572962.
JD247321 - Sequence 228345 from Patent EP1572962.
JD161037 - Sequence 142061 from Patent EP1572962.
JD153131 - Sequence 134155 from Patent EP1572962.
JD325911 - Sequence 306935 from Patent EP1572962.
AF323754 - Homo sapiens ADP-ribosylation factor binding protein GGA2s (GGA2) mRNA, complete cds, alternatively spliced.
JD326668 - Sequence 307692 from Patent EP1572962.
JD080370 - Sequence 61394 from Patent EP1572962.
JD353477 - Sequence 334501 from Patent EP1572962.
JD429064 - Sequence 410088 from Patent EP1572962.
AK026350 - Homo sapiens cDNA: FLJ22697 fis, clone HSI11994.
JD298164 - Sequence 279188 from Patent EP1572962.
JD170072 - Sequence 151096 from Patent EP1572962.
JD450039 - Sequence 431063 from Patent EP1572962.
JD557865 - Sequence 538889 from Patent EP1572962.
JD260384 - Sequence 241408 from Patent EP1572962.
JD082406 - Sequence 63430 from Patent EP1572962.
AK024619 - Homo sapiens cDNA: FLJ20966 fis, clone ADSH01726, highly similar to AF165531 Homo sapiens VEAR protein mRNA.
AK093769 - Homo sapiens cDNA FLJ36450 fis, clone THYMU2013705.
AX748295 - Sequence 1820 from Patent EP1308459.
JD182061 - Sequence 163085 from Patent EP1572962.
JD193094 - Sequence 174118 from Patent EP1572962.
JD351904 - Sequence 332928 from Patent EP1572962.
JD132010 - Sequence 113034 from Patent EP1572962.
JD368974 - Sequence 349998 from Patent EP1572962.
JD348259 - Sequence 329283 from Patent EP1572962.
JD539680 - Sequence 520704 from Patent EP1572962.
BC000284 - Homo sapiens golgi associated, gamma adaptin ear containing, ARF binding protein 2, mRNA (cDNA clone MGC:1002 IMAGE:3356490), complete cds.
JD019604 - Sequence 628 from Patent EP1572962.
JD035674 - Sequence 16698 from Patent EP1572962.
JD279687 - Sequence 260711 from Patent EP1572962.
JD289425 - Sequence 270449 from Patent EP1572962.
JD249025 - Sequence 230049 from Patent EP1572962.
JD111186 - Sequence 92210 from Patent EP1572962.
JD289939 - Sequence 270963 from Patent EP1572962.
JD510447 - Sequence 491471 from Patent EP1572962.
AF165531 - Homo sapiens VEAR protein mRNA, complete cds.
AF233522 - Homo sapiens Golgi-associated, gamma-adaptin ear containing, ARF-binding protein 2 (GGA2) gene, complete cds.
AF190863 - Homo sapiens ADP-ribosylation factor binding protein GGA2 (GGA2) mRNA, complete cds.
DQ892534 - Synthetic construct clone IMAGE:100005164; FLH187241.01X; RZPDo839F0372D golgi associated, gamma adaptin ear containing, ARF binding protein 2 (GGA2) gene, encodes complete protein.
KJ898440 - Synthetic construct Homo sapiens clone ccsbBroadEn_07834 GGA2 gene, encodes complete protein.
DQ895745 - Synthetic construct Homo sapiens clone IMAGE:100010205; FLH187237.01L; RZPDo839F0362D golgi associated, gamma adaptin ear containing, ARF binding protein 2 (GGA2) gene, encodes complete protein.
AB384559 - Synthetic construct DNA, clone: pF1KA1080, Homo sapiens GGA2 gene for ADP-ribosylation factor-binding protein GGA2, complete cds, without stop codon, in Flexi system.
JD524607 - Sequence 505631 from Patent EP1572962.
JD410829 - Sequence 391853 from Patent EP1572962.
AK130752 - Homo sapiens cDNA FLJ27242 fis, clone SYN08010.
AK308425 - Homo sapiens cDNA, FLJ98373.
JD047282 - Sequence 28306 from Patent EP1572962.
JD399891 - Sequence 380915 from Patent EP1572962.
JD183756 - Sequence 164780 from Patent EP1572962.
JD398382 - Sequence 379406 from Patent EP1572962.
CU674130 - Synthetic construct Homo sapiens gateway clone IMAGE:100017740 5' read GGA2 mRNA.
JD191223 - Sequence 172247 from Patent EP1572962.
JD222581 - Sequence 203605 from Patent EP1572962.
JD492793 - Sequence 473817 from Patent EP1572962.
JD170744 - Sequence 151768 from Patent EP1572962.
JD115879 - Sequence 96903 from Patent EP1572962.
JD095002 - Sequence 76026 from Patent EP1572962.
JD187484 - Sequence 168508 from Patent EP1572962.
JD128472 - Sequence 109496 from Patent EP1572962.
JD407003 - Sequence 388027 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04142 - Lysosome

Reactome (by CSHL, EBI, and GO)

Protein Q9UJY4 (Reactome details) participates in the following event(s):

R-HSA-5692934 BACE1 binds GGA1,2,3
R-HSA-5692941 BACE1:GGA1,2,3 translocates from plasma membrane to endosome
R-HSA-8854222 TBC1D3 associates with RAB5
R-HSA-977225 Amyloid fiber formation
R-HSA-392499 Metabolism of proteins
R-HSA-8854214 TBC/RABGAPs
R-HSA-9007101 Rab regulation of trafficking
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: D3DWF0, ENST00000309859.1, ENST00000309859.2, ENST00000309859.3, ENST00000309859.4, ENST00000309859.5, ENST00000309859.6, ENST00000309859.7, GGA2_HUMAN, KIAA1080, NM_015044, O14564, Q9NYN2, Q9UJY4, Q9UPS2, uc002dlq.1, uc002dlq.2, uc002dlq.3
UCSC ID: ENST00000309859.8
RefSeq Accession: NM_015044
Protein: Q9UJY4 (aka GGA2_HUMAN)
CCDS: CCDS10611.1

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