Gene Gene information from NCBI Gene database.
Entrez ID 3268
Gene name ArfGAP with FG repeats 2
Gene symbol AGFG2
Synonyms (NCBI Gene)
HRBLRABR
Chromosome 7
Chromosome location 7q22.1
Summary This gene is a member of the HIV-1 Rev binding protein (HRB) family and encodes a protein with one Arf-GAP zinc finger domain, several phe-gly (FG) motifs, and four asn-pro-phe (NPF) motifs. This protein interacts with Eps15 homology (EH) domains and play
miRNA miRNA information provided by mirtarbase database.
247
miRTarBase ID miRNA Experiments Reference
MIRT018284 hsa-miR-335-5p Microarray 18185580
MIRT052062 hsa-let-7b-5p CLASH 23622248
MIRT042987 hsa-miR-324-3p CLASH 23622248
MIRT169669 hsa-miR-106b-5p HITS-CLIP 22473208
MIRT169663 hsa-miR-20a-5p HITS-CLIP 22473208
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0001675 Process Acrosome assembly IBA
GO:0005096 Function GTPase activator activity IEA
GO:0005737 Component Cytoplasm IBA
GO:0007289 Process Spermatid nucleus differentiation IBA
GO:0008270 Function Zinc ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604019 5177 ENSG00000106351
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95081
Protein name Arf-GAP domain and FG repeat-containing protein 2 (HIV-1 Rev-binding protein-like protein) (Rev/Rex activation domain-binding protein related) (RAB-R)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01412 ArfGap 32 148 Putative GTPase activating protein for Arf Domain
Sequence
MVMAAKKGPGPGGGVSGGKAEAEAASEVWCRRVRELGGCSQAGNRHCFECAQRGVTYVDI
TVGSFVCTTCSGLLRGLNPPHRVKSISMTTFTEPEVVFLQSRGNEVCRKIWLGLFDARTS
LVPDSRDPQKVKEFLQEKYEKKRWYVPP
DQVKGPTYTKGSASTPVQGSIPEGKPLRTLLG
DPAPSLSVAASTSSQPVSQSHARTSQARSTQPPPHSSVKKASTDLLADIGGDPFAAPQMA
PAFAAFPAFGGQTPSQGGFANFDAFSSGPSSSVFGSLPPAGQASFQAQPTPAGSSQGTPF
GATPLAPASQPNSLADVGSFLGPGVPAAGVPSSLFGMAGQVPPLQSVTMGGGGGSSTGLA
FGAFTNPFTAPAAQSPLPSTNPFQPNGLAPGPGFGMSSAGPGFPQAVPPTGAFASSFPAP
LFPPQTPLVQQQNGSSFGDLGSAKLGQRPLSQPAGISTNPFMTGPSSSPFASKPPTTNPF
L
Sequence length 481
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Achalasia Addisonianism Alacrimia syndrome Associate 37331934
★☆☆☆☆
Found in Text Mining only
Acute Febrile Encephalopathy Associate 31178128
★☆☆☆☆
Found in Text Mining only
Anaplasia Associate 30036517
★☆☆☆☆
Found in Text Mining only
Endometriosis Associate 31256999
★☆☆☆☆
Found in Text Mining only
Familial Glucocorticoid Deficiency 1 Associate 37331934
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Associate 34494102
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Acute Associate 10908574, 9050861
★☆☆☆☆
Found in Text Mining only
Myelodysplastic Syndromes Associate 10830185
★☆☆☆☆
Found in Text Mining only
Ovarian Neoplasms Associate 22074739
★☆☆☆☆
Found in Text Mining only
Pena Shokeir syndrome type 1 Associate 33168876
★☆☆☆☆
Found in Text Mining only