Aliases for ARFGAP2 Gene

Aliases for ARFGAP2 Gene

  • ADP Ribosylation Factor GTPase Activating Protein 2 2 3 5
  • ADP-Ribosylation Factor GTPase-Activating Protein 2 3 4
  • Zinc Finger Protein 289, ID1 Regulated 2 3
  • GTPase-Activating Protein ZNF289 3 4
  • ZNF289 3 4
  • IRZ 2 3
  • Zinc Finger Protein 289 4
  • NBLA10535 3
  • ARF GAP 2 4
  • FLJ14576 2
  • ARFGAP2 5
  • ZFP289 3
  • Zfp289 2

External Ids for ARFGAP2 Gene

Previous HGNC Symbols for ARFGAP2 Gene

  • ZNF289

Previous GeneCards Identifiers for ARFGAP2 Gene

  • GC11M047143
  • GC11M046884
  • GC11M047185
  • GC11M047280
  • GC11M047937
  • GC11M055803
  • GC11M056025
  • GC11M056167
  • GC11M059684
  • GC11M050790
  • GC11M051585
  • GC11M052247
  • GC11M052907
  • GC11M053575
  • GC11M054241
  • GC11M054907
  • GC11M055606

Summaries for ARFGAP2 Gene

GeneCards Summary for ARFGAP2 Gene

ARFGAP2 (ADP Ribosylation Factor GTPase Activating Protein 2) is a Protein Coding gene. Diseases associated with ARFGAP2 include Autoimmune Lymphoproliferative Syndrome. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is ARFGAP3.

UniProtKB/Swiss-Prot Summary for ARFGAP2 Gene

  • GTPase-activating protein (GAP) for ADP ribosylation factor 1 (ARF1). Implicated in coatomer-mediated protein transport between the Golgi complex and the endoplasmic reticulum. Hydrolysis of ARF1-bound GTP may lead to dissociation of coatomer from Golgi-derived membranes to allow fusion with target membranes.

Additional gene information for ARFGAP2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARFGAP2 Gene

Genomics for ARFGAP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ARFGAP2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARFGAP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARFGAP2

Top Transcription factor binding sites by QIAGEN in the ARFGAP2 gene promoter:
  • AhR
  • AREB6
  • Arnt
  • GR
  • GR-alpha
  • GR-beta
  • NF-1
  • NF-1/L
  • RP58
  • STAT1beta

Genomic Locations for ARFGAP2 Gene

Genomic Locations for ARFGAP2 Gene
chr11:47,164,298-47,177,125
(GRCh38/hg38)
Size:
12,828 bases
Orientation:
Minus strand
chr11:47,185,848-47,198,676
(GRCh37/hg19)
Size:
12,829 bases
Orientation:
Minus strand

Genomic View for ARFGAP2 Gene

Genes around ARFGAP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARFGAP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARFGAP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARFGAP2 Gene

Proteins for ARFGAP2 Gene

  • Protein details for ARFGAP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N6H7-ARFG2_HUMAN
    Recommended name:
    ADP-ribosylation factor GTPase-activating protein 2
    Protein Accession:
    Q8N6H7
    Secondary Accessions:
    • B4DX29
    • B7Z9M7
    • D3DQQ9
    • Q3LIF2
    • Q8N3I1
    • Q96SX7

    Protein attributes for ARFGAP2 Gene

    Size:
    521 amino acids
    Molecular mass:
    56720 Da
    Quaternary structure:
    • Interacts with the coatomer complex. Interacts with the C-terminal appendage domain of COPG1.
    Miscellaneous:
    • Vero cells overexpressing truncated ARFGAP2 show accumulation of cholera toxin A subunit in the Golgi complex rather than the endoplasmic reticulum.

    Three dimensional structures from OCA and Proteopedia for ARFGAP2 Gene

    Alternative splice isoforms for ARFGAP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARFGAP2 Gene

Post-translational modifications for ARFGAP2 Gene

  • Ubiquitination at Lys429
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ARFGAP2 Gene

Domains & Families for ARFGAP2 Gene

Gene Families for ARFGAP2 Gene

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

Protein Domains for ARFGAP2 Gene

InterPro:
Blocks:
  • HIV Rev interacting protein signature
ProtoNet:

Suggested Antigen Peptide Sequences for ARFGAP2 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein 289 (ARFG2_HUMAN)
  • cDNA FLJ53674, highly similar to Homo sapiens zinc finger protein 289, ID1 regulated (ZNF289), mRNA (B4DX29_HUMAN)
  • cDNA FLJ58830, highly similar to Homo sapiens zinc finger protein 289, ID1 regulated (ZNF289), mRNA (B4E327_HUMAN)
genes like me logo Genes that share domains with ARFGAP2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ARFGAP2 Gene

Function for ARFGAP2 Gene

Molecular function for ARFGAP2 Gene

UniProtKB/Swiss-Prot Function:
GTPase-activating protein (GAP) for ADP ribosylation factor 1 (ARF1). Implicated in coatomer-mediated protein transport between the Golgi complex and the endoplasmic reticulum. Hydrolysis of ARF1-bound GTP may lead to dissociation of coatomer from Golgi-derived membranes to allow fusion with target membranes.

Phenotypes From GWAS Catalog for ARFGAP2 Gene

Gene Ontology (GO) - Molecular Function for ARFGAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA,IBA 21873635
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ARFGAP2: view
genes like me logo Genes that share phenotypes with ARFGAP2: view

Animal Model Products

CRISPR Products

miRNA for ARFGAP2 Gene

miRTarBase miRNAs that target ARFGAP2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARFGAP2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ARFGAP2 Gene

Localization for ARFGAP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARFGAP2 Gene

Cytoplasm. Golgi apparatus membrane. Peripheral membrane protein. Cytoplasmic side. Note=Also found on peripheral punctate structures likely to be endoplasmic reticulum-Golgi intermediate compartment.

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 ARFGAP2 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
plasma membrane 4
nucleus 4
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ARFGAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IDA --
GO:0005829 cytosol IDA,TAS --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with ARFGAP2: view

Pathways & Interactions for ARFGAP2 Gene

genes like me logo Genes that share pathways with ARFGAP2: view

Gene Ontology (GO) - Biological Process for ARFGAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER TAS --
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with ARFGAP2: view

No data available for SIGNOR curated interactions for ARFGAP2 Gene

Drugs & Compounds for ARFGAP2 Gene

(1) Drugs for ARFGAP2 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 ARFGAP2: view

Transcripts for ARFGAP2 Gene

mRNA/cDNA for ARFGAP2 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
30 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARFGAP2

Alternative Splicing Database (ASD) splice patterns (SP) for ARFGAP2 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: - - - - - - -
SP2: - - -
SP3: - -
SP4: -
SP5:
SP6:
SP7:

Relevant External Links for ARFGAP2 Gene

GeneLoc Exon Structure for
ARFGAP2

Expression for ARFGAP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARFGAP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ARFGAP2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (17.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARFGAP2 Gene



Protein tissue co-expression partners for ARFGAP2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARFGAP2

SOURCE GeneReport for Unigene cluster for ARFGAP2 Gene:

Hs.436204

Evidence on tissue expression from TISSUES for ARFGAP2 Gene

  • Nervous system(5)
  • Eye(4.5)
  • Liver(4.4)
  • Lung(3.4)
  • Intestine(3.2)
  • Kidney(2.9)
  • Skin(2.9)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with ARFGAP2: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARFGAP2 Gene

Orthologs for ARFGAP2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ARFGAP2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ARFGAP2 30 31
  • 99.87 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ARFGAP2 30 31
  • 91.41 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ARFGAP2 30 31
  • 90.45 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Arfgap2 30
  • 89.17 (n)
Oppossum
(Monodelphis domestica)
Mammalia ARFGAP2 31
  • 89 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Arfgap2 30 17 31
  • 88.97 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ARFGAP2 31
  • 84 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ARFGAP2 30 31
  • 77.24 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 73 (a)
OneToMany
-- 31
  • 66 (a)
OneToMany
-- 31
  • 63 (a)
OneToMany
-- 31
  • 63 (a)
OneToMany
-- 31
  • 63 (a)
OneToMany
-- 31
  • 63 (a)
OneToMany
-- 31
  • 63 (a)
OneToMany
-- 31
  • 63 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia arfgap2 30
  • 70.72 (n)
Str.6000 30
Zebrafish
(Danio rerio)
Actinopterygii arfgap2 30 31
  • 70.47 (n)
OneToOne
wufa11e07 30
Fruit Fly
(Drosophila melanogaster)
Insecta ArfGAP3 30 31
  • 50.43 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005609 30
  • 50.1 (n)
Worm
(Caenorhabditis elegans)
Secernentea F07F6.4 30 31
  • 48.01 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GLO3 31
  • 22 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons RPA 30
  • 51.34 (n)
Barley
(Hordeum vulgare)
Liliopsida Hv.5106 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 40 (a)
ManyToMany
-- 31
  • 31 (a)
ManyToMany
Species where no ortholog for ARFGAP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ARFGAP2 Gene

ENSEMBL:
Gene Tree for ARFGAP2 (if available)
TreeFam:
Gene Tree for ARFGAP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARFGAP2: view image

Paralogs for ARFGAP2 Gene

(8) SIMAP similar genes for ARFGAP2 Gene using alignment to 19 proteins:

  • ARFG2_HUMAN
  • B4DX29_HUMAN
  • B7Z9M7_HUMAN
  • E9PIY6_HUMAN
  • E9PJT7_HUMAN
  • E9PK28_HUMAN
  • E9PM18_HUMAN
  • E9PM63_HUMAN
  • E9PMR9_HUMAN
  • E9PMU9_HUMAN
  • E9PN48_HUMAN
  • E9PNY8_HUMAN
  • E9PQP3_HUMAN
  • G5E9L0_HUMAN
  • H0YCA3_HUMAN
  • H0YCL1_HUMAN
  • H0YDN9_HUMAN
  • H0YDX1_HUMAN
  • H0YF45_HUMAN
genes like me logo Genes that share paralogs with ARFGAP2: view

Variants for ARFGAP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARFGAP2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs11542793 - p.Pro143Arg
rs34662994 - p.Arg339His
rs35950498 - p.Arg406Trp
rs3740691 - p.Ser411Asn

Additional dbSNP identifiers (rs#s) for ARFGAP2 Gene

Variation tolerance for ARFGAP2 Gene

Residual Variation Intolerance Score: 59.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.35; 92.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARFGAP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARFGAP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ARFGAP2 Gene

Disorders for ARFGAP2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ARFGAP2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
autoimmune lymphoproliferative syndrome
  • css
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with ARFGAP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ARFGAP2 Gene

Publications for ARFGAP2 Gene

  1. Gamma-COP appendage domain - structure and function. (PMID: 14690497) Watson PJ … Owen DJ (Traffic (Copenhagen, Denmark) 2004) 2 3 4
  2. Two human ARFGAPs associated with COP-I-coated vesicles. (PMID: 17760859) Frigerio G … Duden R (Traffic (Copenhagen, Denmark) 2007) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Neuroblastoma oligo-capping cDNA project: toward the understanding of the genesis and biology of neuroblastoma. (PMID: 12880961) Ohira M … Nakagawara A (Cancer letters 2003) 3 4

Products for ARFGAP2 Gene

Sources for ARFGAP2 Gene