Gene Gene information from NCBI Gene database.
Entrez ID 84364
Gene name ARF GTPase activating protein 2
Gene symbol ARFGAP2
Synonyms (NCBI Gene)
IRZNBLA10535ZFP289ZNF289
Chromosome 11
Chromosome location 11p11.2
miRNA miRNA information provided by mirtarbase database.
527
miRTarBase ID miRNA Experiments Reference
MIRT025024 hsa-miR-183-5p Sequencing 20371350
MIRT043179 hsa-miR-324-5p CLASH 23622248
MIRT792818 hsa-miR-1182 CLIP-seq
MIRT792819 hsa-miR-139-3p CLIP-seq
MIRT792820 hsa-miR-1910 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IEA
GO:0005737 Component Cytoplasm IEA
GO:0005794 Component Golgi apparatus IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606908 13504 ENSG00000149182
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N6H7
Protein name ADP-ribosylation factor GTPase-activating protein 2 (ARF GAP 2) (GTPase-activating protein ZNF289) (Zinc finger protein 289)
Protein 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 fr
PDB 2P57
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01412 ArfGap 11 122 Putative GTPase activating protein for Arf Domain
Sequence
MAAEPNKTEIQTLFKRLRAVPTNKACFDCGAKNPSWASITYGVFLCIDCSGVHRSLGVHL
SFIRSTELDSNWNWFQLRCMQVGGNANATAFFRQHGCTANDANTKYNSRAAQMYREKIRQ
LG
SAALARHGTDLWIDNMSSAVPNHSPEKKDSDFFTEHTQPPAWDAPATEPSGTQQPAPS
TESSGLAQPEHGPNTDLLGTSPKASLELKSSIIGKKKPAAAKKGLGAKKGLGAQKVSSQS
FSEIERQAQVAEKLREQQAADAKKQAEESMVASMRLAYQELQIDRKKEEKKLQNLEGKKR
EQAERLGMGLVSRSSVSHSVLSEMQVIEQETPVSAKSSRSQLDLFDDVGTFASGPPKYKD
NPFSLGESFGSRWDTDAAWGMDRVEEKEPEVTISSIRPISERATNRREVESRSSGLESSE
ARQKFAGAKAISSDMFFGREVDAEYEARSRLQQLSGSSAISSSDLFGDMDGAHGAGSVSL
GNVLPTADIAQFKQGVKSVAGKMAVLANGVMNSLQDRYGSY
Sequence length 521
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Endocytosis   COPI-mediated anterograde transport
COPI-dependent Golgi-to-ER retrograde traffic
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Uncertain significance; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARFGAP2-related disorder Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BONE FRACTURE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Crohn Disease Crohn disease Pubtator 36833379 Associate
★☆☆☆☆
Found in Text Mining only
Hereditary Diffuse Gastric Cancer Gastric Cancer CTD_human_DG 21364753
★☆☆☆☆
Found in Text Mining only
Major Depressive Disorder Mental Depression GWASCAT_DG 29942085
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of stomach Stomach Neoplasms CTD_human_DG 21364753
★☆☆☆☆
Found in Text Mining only
Mood Disorders Mood Disorder GWASCAT_DG 29942085
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach Neoplasms CTD_human_DG 21364753
★★☆☆☆
Found in Text Mining + Unknown/Other Associations