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 Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 25510432
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 29777097
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 30036517
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia Pubtator 30036517 Associate
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 30488537
★☆☆☆☆
Found in Text Mining only
Endometriosis Endometriosis BEFREE 31256999
★☆☆☆☆
Found in Text Mining only
Endometriosis Endometriosis Pubtator 31256999 Associate
★☆☆☆☆
Found in Text Mining only
Familial Glucocorticoid Deficiency 1 Glucocorticoid deficiency Pubtator 37331934 Associate
★☆☆☆☆
Found in Text Mining only
Glucocorticoid deficiency with achalasia Glucocorticoid Deficiency With Achalasia BEFREE 31600784
★☆☆☆☆
Found in Text Mining only
Hematologic Neoplasms Hematologic Neoplasms BEFREE 11782354, 12112533, 12810632, 27060678
★☆☆☆☆
Found in Text Mining only