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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
18
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Uncertain significance; Benign rs576771926, rs114371790 RCV005927204
RCV005933601
ARFGAP2-related disorder Likely benign; Benign rs751176662, rs138040761, rs117324352, rs34662994, rs138370539, rs575856978, rs142683966, rs34580829, rs568596407, rs116818981, rs35950498, rs201392297, rs114371790 RCV003903925
RCV003914251
RCV003911634
RCV003952221
RCV003914334
RCV003924429
RCV003939412
RCV003934422
RCV003924214
RCV003926967
RCV003942269
RCV003944630
RCV003976320
RCV003976456
Colorectal cancer Uncertain significance rs576771926 RCV005927205
Ovarian serous cystadenocarcinoma Benign rs114371790 RCV005933602
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Crohn Disease Associate 36833379