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Aliases for GGA2 Gene

Aliases for GGA2 Gene

  • Golgi Associated, Gamma Adaptin Ear Containing, ARF Binding Protein 2 2 3
  • Golgi-Associated, Gamma Adaptin Ear Containing, ARF Binding Protein 2 2 3 5
  • Golgi-Localized, Gamma Ear-Containing, ARF-Binding Protein 2 3 4
  • VHS Domain And Ear Domain Of Gamma-Adaptin 3 4
  • Gamma-Adaptin-Related Protein 2 3 4
  • VEAR 3 4
  • VHS Domain And Ear Domain-Containing Protein 3
  • KIAA1080 4

External Ids for GGA2 Gene

Previous GeneCards Identifiers for GGA2 Gene

  • GC16M022884
  • GC16M023563
  • GC16M023403
  • GC16M023442
  • GC16M023383
  • GC16M021565

Summaries for GGA2 Gene

Entrez Gene Summary for GGA2 Gene

  • 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]

GeneCards Summary for GGA2 Gene

GGA2 (Golgi Associated, Gamma Adaptin Ear Containing, ARF Binding Protein 2) is a Protein Coding gene. Among its related pathways are Transport to the Golgi and subsequent modification and Lysosome. GO annotations related to this gene include ADP-ribosylation factor binding. An important paralog of this gene is GGA3.

UniProtKB/Swiss-Prot for GGA2 Gene

  • 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.

Gene Wiki entry for GGA2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GGA2 Gene

Genomics for GGA2 Gene

Regulatory Elements for GGA2 Gene

Genomic Location for GGA2 Gene

Chromosome:
16
Start:
23,463,542 bp from pter
End:
23,521,995 bp from pter
Size:
58,454 bases
Orientation:
Minus strand

Genomic View for GGA2 Gene

Genes around GGA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GGA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GGA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GGA2 Gene

Proteins for GGA2 Gene

  • Protein details for GGA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UJY4-GGA2_HUMAN
    Recommended name:
    ADP-ribosylation factor-binding protein GGA2
    Protein Accession:
    Q9UJY4
    Secondary Accessions:
    • D3DWF0
    • O14564
    • Q9NYN2
    • Q9UPS2

    Protein attributes for GGA2 Gene

    Size:
    613 amino acids
    Molecular mass:
    67150 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAK38634.1; Type=Frameshift; Positions=193; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GGA2 Gene

neXtProt entry for GGA2 Gene

Proteomics data for GGA2 Gene at MOPED

Post-translational modifications for GGA2 Gene

Antibody Products

No data available for DME Specific Peptides for GGA2 Gene

Domains & Families for GGA2 Gene

Suggested Antigen Peptide Sequences for GGA2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UJY4

UniProtKB/Swiss-Prot:

GGA2_HUMAN :
  • The VHS domain functions as a recognition module for sorting signals composed of an acidic cluster followed by two leucines (AC-LL motif).
  • Belongs to the GGA protein family.
Domain:
  • The VHS domain functions as a recognition module for sorting signals composed of an acidic cluster followed by two leucines (AC-LL motif).
  • The GAT domain is responsible for interaction with ARF-GTP, UBC and RABEP1. Required for recruitment to the TGN it prevents ARF-GTP hydrolysis.
  • The unstructured hinge region contains clathrin-binding but no autoinhibitory (AC-LL) motifs.
  • The GAE domain binds accessory proteins regulating GGAs function.
  • Contains 1 GAE domain.
  • Contains 1 GAT domain.
  • Contains 1 VHS domain.
Family:
  • Belongs to the GGA protein family.
genes like me logo Genes that share domains with GGA2: view

Function for GGA2 Gene

Molecular function for GGA2 Gene

UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with GGA2: view

Animal Model Products

miRNA for GGA2 Gene

miRTarBase miRNAs that target GGA2

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GGA2 Gene

Localization for GGA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GGA2 Gene

Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein. Endosome membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GGA2 Gene COMPARTMENTS Subcellular localization image for GGA2 gene
Compartment Confidence
endosome 5
golgi apparatus 5
cytosol 3
vacuole 2
endoplasmic reticulum 1
extracellular 1
lysosome 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for GGA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0030136 clathrin-coated vesicle IDA 19478182
genes like me logo Genes that share ontologies with GGA2: view

Pathways & Interactions for GGA2 Gene

genes like me logo Genes that share pathways with GGA2: view

Pathways by source for GGA2 Gene

2 Reactome pathways for GGA2 Gene
1 KEGG pathway for GGA2 Gene

Gene Ontology (GO) - Biological Process for GGA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with GGA2: view

No data available for SIGNOR curated interactions for GGA2 Gene

Drugs & Compounds for GGA2 Gene

(1) Drugs for GGA2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with GGA2: view

Transcripts for GGA2 Gene

Unigene Clusters for GGA2 Gene

Golgi-associated, gamma adaptin ear containing, ARF binding protein 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GGA2 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a ·
SP1: - - - - - - -
SP2: - - - - - -
SP3:
SP4: - - - - -
SP5: - - - -
SP6: - - - -
SP7: -
SP8: - -
SP9: -
SP10:
SP11:

ExUns: 16b · 16c ^ 17a · 17b ^ 18a · 18b ^ 19a · 19b
SP1: -
SP2: - - - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for GGA2 Gene

GeneLoc Exon Structure for
GGA2
ECgene alternative splicing isoforms for
GGA2

Expression for GGA2 Gene

mRNA expression in normal human tissues for GGA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GGA2 Gene

This gene is overexpressed in Fetal gut (11.7), Frontal cortex (8.2), Blymphocyte (6.9), and Pancreas (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for GGA2 Gene



SOURCE GeneReport for Unigene cluster for GGA2 Gene Hs.460336

mRNA Expression by UniProt/SwissProt for GGA2 Gene

Q9UJY4-GGA2_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expression patterns with GGA2: view

Protein tissue co-expression partners for GGA2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for GGA2 Gene

Orthologs for GGA2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GGA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GGA2 35
  • 99.44 (n)
  • 99.26 (a)
GGA2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GGA2 36
  • 88 (a)
OneToOne
GGA2 35
  • 89.7 (n)
  • 90.2 (a)
dog
(Canis familiaris)
Mammalia GGA2 35
  • 90.05 (n)
  • 93.14 (a)
GGA2 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gga2 16
Gga2 35
  • 84.1 (n)
  • 85.74 (a)
Gga2 36
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GGA2 36
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 53 (a)
OneToMany
-- 36
  • 53 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Gga2 35
  • 85.2 (n)
  • 87.29 (a)
chicken
(Gallus gallus)
Aves GGA2 36
  • 44 (a)
OneToOne
GGA2 35
  • 61.5 (n)
  • 55.54 (a)
lizard
(Anolis carolinensis)
Reptilia GGA2 36
  • 68 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Gga 36
  • 21 (a)
OneToMany
CG3002 37
  • 32 (a)
worm
(Caenorhabditis elegans)
Secernentea apt-9 36
  • 20 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GGA1 36
  • 17 (a)
ManyToMany
GGA2 36
  • 18 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8997 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 32 (a)
OneToMany
Species with no ortholog for GGA2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 (Oryza sativa)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for GGA2 Gene

ENSEMBL:
Gene Tree for GGA2 (if available)
TreeFam:
Gene Tree for GGA2 (if available)

Paralogs for GGA2 Gene

Paralogs for GGA2 Gene

(4) SIMAP similar genes for GGA2 Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for GGA2 Gene

genes like me logo Genes that share paralogs with GGA2: view

Variants for GGA2 Gene

Sequence variations from dbSNP and Humsavar for GGA2 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1135045 - 23,478,390(-) TCTCA(C/G)CACAG reference, missense
rs722069 -- 23,495,619(-) CAAGA(C/T)TGTTT intron-variant
rs1071685 -- 23,510,322(-) TGGCT(C/G)AGTGA upstream-variant-2KB, reference, synonymous-codon
rs727238 -- 23,509,745(-) TATAT(A/G)TGTGT intron-variant, upstream-variant-2KB
rs867131 -- 23,505,979(-) TTATA(A/G)CTGCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GGA2 Gene

Variant ID Type Subtype PubMed ID
nsv1768 CNV Insertion 18451855
esv2536944 CNV Deletion 19546169
dgv485e199 CNV Deletion 23128226
esv275554 CNV Gain+Loss 21479260

Variation tolerance for GGA2 Gene

Residual Variation Intolerance Score: 28.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.08; 22.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GGA2 Gene

HapMap Linkage Disequilibrium report
GGA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GGA2 Gene

Disorders for GGA2 Gene

Relevant External Links for GGA2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GGA2

No disorders were found for GGA2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GGA2 Gene

Publications for GGA2 Gene

  1. A family of proteins with gamma-adaptin and VHS domains that facilitate trafficking between the trans-Golgi network and the vacuole/lysosome. (PMID: 10747088) Hirst J. … Robinson M.S. (J. Cell Biol. 2000) 2 3 4 67
  2. Specific depletion of GGA2 causes cathepsin D missorting in HeLa cells. (PMID: 18431031) Hida T. … Waguri S. (Arch. Histol. Cytol. 2007) 3 23
  3. Stabilin-1 localizes to endosomes and the trans-Golgi network in human macrophages and interacts with GGA adaptors. (PMID: 15345724) Kzhyshkowska J. … Goerdt S. (J. Leukoc. Biol. 2004) 3 23
  4. Biochemical and structural characterization of the interaction of memapsin 2 (beta-secretase) cytosolic domain with the VHS domain of GGA proteins. (PMID: 14567678) He X. … Tang J. (Biochemistry 2003) 3 23
  5. Crystal structure of GGA2 VHS domain and its implication in plasticity in the ligand binding pocket. (PMID: 12606052) Zhu G. … Zhang X.C. (FEBS Lett. 2003) 3 23

Products for GGA2 Gene

Sources for GGA2 Gene

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