Gene Gene information from NCBI Gene database.
Entrez ID 377
Gene name ARF GTPase 3
Gene symbol ARF3
Synonyms (NCBI Gene)
-
Chromosome 12
Chromosome location 12q13.12
Summary ADP-ribosylation factor 3 (ARF3) is a member of the human ARF gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as act
miRNA miRNA information provided by mirtarbase database.
1430
miRTarBase ID miRNA Experiments Reference
MIRT002742 hsa-miR-1-3p Microarray 15685193
MIRT002742 hsa-miR-1-3p Microarray;Other 15685193
MIRT047965 hsa-miR-30c-5p CLASH 23622248
MIRT047633 hsa-miR-10a-5p CLASH 23622248
MIRT045938 hsa-miR-125b-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0000166 Function Nucleotide binding IEA
GO:0003924 Function GTPase activity IEA
GO:0003924 Function GTPase activity TAS 1744102
GO:0005515 Function Protein binding IPI 32296183, 32814053
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
103190 654 ENSG00000134287
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P61204
Protein name ADP-ribosylation factor 3
Protein function GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP-ribosyltransferase. Involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus.
PDB 6II6 , 8P50
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00025 Arf 5 177 ADP-ribosylation factor family Domain
Sequence
Sequence length 181
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Endocytosis   Synthesis of PIPs at the Golgi membrane
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.).
21
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Atrophy/Degeneration affecting the central nervous system Likely pathogenic; Pathogenic rs1940246962, rs2498897479, rs2498894678, rs2498893389 RCV002280591
RCV002280592
RCV002280594
RCV002280595
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dystonic disorder Likely pathogenic; Pathogenic rs1940246962, rs2498894678 RCV002280591
RCV002280594
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay Likely pathogenic; Pathogenic rs2498893389 RCV005424835
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypotonia Likely pathogenic; Pathogenic rs2498893389 RCV002280595
★★★★☆
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
AUTISTIC DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIFID UVULA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CLINODACTYLY Disgenet
★★☆☆☆
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
Breast Carcinoma Breast Carcinoma BEFREE 19074886, 31539530
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 31171715 Associate
★☆☆☆☆
Found in Text Mining only
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) Capillary Malformation-Arteriovenous Malformation BEFREE 28530642
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 19074886, 31539530
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 15940260
★☆☆☆☆
Found in Text Mining only
Myasthenia Gravis Myasthenia gravis Pubtator 35802752 Associate
★☆☆☆☆
Found in Text Mining only
Myotonic Dystrophy Myotonic dystrophy BEFREE 8617235
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 29371698
★☆☆☆☆
Found in Text Mining only
Neuroblastoma Neuroblastoma BEFREE 15485492
★☆☆☆☆
Found in Text Mining only
Parkinson Disease Parkinson disease BEFREE 17260967
★☆☆☆☆
Found in Text Mining only