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Aliases for GGA2 Gene

Aliases for GGA2 Gene

  • 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
  • Golgi-Associated, Gamma Adaptin Ear Containing, ARF Binding Protein 2 2
  • ADP-Ribosylation Factor-Binding Protein GGA2 3
  • VHS Domain And Ear Domain-Containing Protein 3
  • KIAA1080 4
  • VEAR 3
  • Vear 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. Diseases associated with GGA2 include 3-Methylglutaconic Aciduria, Type Iii. Among its related pathways are Metabolism of proteins and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include ADP-ribosylation factor binding. An important paralog of this gene is GGA1.

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

Additional gene information for GGA2 Gene

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

Genomics for GGA2 Gene

GeneHancer (GH) Regulatory Elements for GGA2 Gene

Promoters and enhancers for GGA2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J023508 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 657.5 +12.2 12183 2.6 HDGF PKNOX1 CLOCK SMAD1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A GGA2 PALB2 ENSG00000260905 DCTN5 LOC100419017 ENSG00000260751 COG7 NDUFAB1 UBFD1 PIR42085
GH16J023520 Enhancer 0.8 Ensembl ENCODE dbSUPER 658 +1.0 959 1.5 ZNF121 ZNF362 GGA2 DCTN5 PIR42085
GH16J023452 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 12.1 +69.1 69094 1.8 HDGF FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 E2F8 ZNF143 COG7 ENSG00000260136 PALB2 NPIPB5 ENSG00000261723 DCTN5 SCNN1B ENSG00000260751 GGA2 ENSG00000260905
GH16J023639 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10 -119.4 -119362 3.2 PKNOX1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 IRF4 YY1 SLC30A9 POLR2B DCTN5 PALB2 PLK1 ENSG00000260751 RBBP6 ENSG00000261723 SCNN1B GGA2
GH16J023676 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10 -156.6 -156615 3.8 PKNOX1 CLOCK SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B PIR39200 PLK1 DCTN5 ENSG00000260751 PALB2 ERN2 ENSG00000261723 NDUFAB1 RBBP6 SCNN1B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GGA2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GGA2 gene promoter:
  • FOXF2
  • C/EBPalpha
  • USF1
  • USF-1
  • TBP
  • Max1
  • c-Myc
  • MRF-2
  • GR-alpha
  • GR

Genomic Locations for GGA2 Gene

Genomic Locations for GGA2 Gene
chr16:23,463,542-23,521,995
(GRCh38/hg38)
Size:
58,454 bases
Orientation:
Minus strand
chr16:23,474,863-23,533,316
(GRCh37/hg19)
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

Post-translational modifications for GGA2 Gene

No data available for DME Specific Peptides for GGA2 Gene

Domains & Families for GGA2 Gene

Gene Families for GGA2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

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.
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.

Phenotypes From GWAS Catalog for GGA2 Gene

Gene Ontology (GO) - Molecular Function for GGA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10747088
GO:0030306 ADP-ribosylation factor binding IDA 10749927
genes like me logo Genes that share ontologies with GGA2: view
genes like me logo Genes that share phenotypes with GGA2: view

Animal Model Products

CRISPR Products

miRNA for GGA2 Gene

miRTarBase miRNAs that target GGA2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GGA2

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GGA2 gene
Compartment Confidence
golgi apparatus 5
endosome 5
cytosol 3
lysosome 2
extracellular 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GGA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005768 endosome IEA --
GO:0005794 Golgi apparatus IEA,IDA --
GO:0005802 trans-Golgi network IDA 10749927
GO:0010008 endosome membrane TAS,IEA --
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

Gene Ontology (GO) - Biological Process for GGA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IEA,NAS 10749927
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA --
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

mRNA/cDNA for GGA2 Gene

Unigene Clusters for GGA2 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GGA2

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for GGA2 Gene



Protein tissue co-expression partners for GGA2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GGA2 Gene:

GGA2

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.

Evidence on tissue expression from TISSUES for GGA2 Gene

  • Nervous system(4.8)
  • Eye(4.4)
  • Lung(2.1)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with GGA2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 33
  • 99.44 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GGA2 34 33
  • 90.05 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GGA2 34 33
  • 89.7 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gga2 33
  • 85.2 (n)
mouse
(Mus musculus)
Mammalia Gga2 16 34 33
  • 84.1 (n)
oppossum
(Monodelphis domestica)
Mammalia GGA2 34
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 53 (a)
OneToMany
-- 34
  • 53 (a)
OneToMany
chicken
(Gallus gallus)
Aves GGA2 34 33
  • 61.5 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GGA2 34
  • 68 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG3002 35
  • 32 (a)
Gga 34
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea apt-9 34
  • 20 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GGA2 34
  • 18 (a)
ManyToMany
GGA1 34
  • 17 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 32 (a)
OneToMany
Cin.8997 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8997 33
Species where no ortholog for GGA2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GGA2: view image

Paralogs for GGA2 Gene

Paralogs for GGA2 Gene

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

  • GGA2_HUMAN
  • H3BMM6_HUMAN
  • H3BMN6_HUMAN
  • H3BPF4_HUMAN
  • H3BPI3_HUMAN
  • I3L263_HUMAN
  • I3L2C4_HUMAN
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 Variation AA Info Type
rs1000000592 -- 23,498,618(-) G/A intron_variant
rs1000052242 -- 23,510,554(-) C/A upstream_transcript_variant
rs1000073036 -- 23,489,797(-) G/T intron_variant
rs1000209509 -- 23,463,555(-) TTTTATTTT/TTTT 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000210905 -- 23,507,182(-) C/T genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv2826n100 CNV gain 25217958
dgv485e199 CNV deletion 23128226
esv2536944 CNV deletion 19546169
esv275554 CNV gain+loss 21479260
esv3553238 CNV deletion 23714750
esv3582101 CNV loss 25503493
esv3638228 CNV loss 21293372
nsv1066078 CNV gain 25217958
nsv1108993 CNV deletion 24896259
nsv1116121 CNV deletion 24896259
nsv1768 CNV insertion 18451855

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)

Additional Variant Information for GGA2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GGA2

SNP Genotyping and Copy Number Assay Products

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

Disorders for GGA2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GGA2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
3-methylglutaconic aciduria, type iii
  • mgca3
- elite association - COSMIC cancer census association via MalaCards
Search GGA2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GGA2

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

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

Publications for GGA2 Gene

  1. Crystal structure of GGA2 VHS domain and its implication in plasticity in the ligand binding pocket. (PMID: 12606052) Zhu G … Zhang XC (FEBS letters 2003) 3 4 22 58
  2. 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 4 22 58
  3. 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 MS (The Journal of cell biology 2000) 2 3 4 58
  4. A family of ADP-ribosylation factor effectors that can alter membrane transport through the trans-Golgi. (PMID: 10749927) Boman AL … Kahn RA (Molecular biology of the cell 2000) 2 3 4 58
  5. Specific depletion of GGA2 causes cathepsin D missorting in HeLa cells. (PMID: 18431031) Hida T … Waguri S (Archives of histology and cytology 2007) 3 22 58

Products for GGA2 Gene

Sources for GGA2 Gene

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