Gene Gene information from NCBI Gene database.
Entrez ID 369
Gene name A-Raf proto-oncogene, serine/threonine kinase
Gene symbol ARAF
Synonyms (NCBI Gene)
A-RAFARAF1PKS2RAFA1
Chromosome X
Chromosome location Xp11.3
Summary This proto-oncogene belongs to the RAF subfamily of the Ser/Thr protein kinase family, and maybe involved in cell growth and development. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefS
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs1057519786 C>G,T Not-provided, likely-pathogenic Missense variant, coding sequence variant, genic downstream transcript variant
rs1057519876 T>G Likely-pathogenic Missense variant, coding sequence variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
130
miRTarBase ID miRNA Experiments Reference
MIRT004929 hsa-miR-124-3p Microarray 15685193
MIRT004929 hsa-miR-124-3p Microarray 18668037
MIRT004929 hsa-miR-124-3p Microarray 15685193
MIRT043358 hsa-miR-331-3p CLASH 23622248
MIRT791615 hsa-miR-103a CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade IBA
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004672 Function Protein kinase activity TAS 3029685
GO:0004674 Function Protein serine/threonine kinase activity IDA 19667065
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
311010 646 ENSG00000078061
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P10398
Protein name Serine/threonine-protein kinase A-Raf (EC 2.7.11.1) (Proto-oncogene A-Raf) (Proto-oncogene A-Raf-1) (Proto-oncogene Pks)
Protein function Involved in the transduction of mitogenic signals from the cell membrane to the nucleus. May also regulate the TOR signaling cascade. Phosphorylates PFKFB2 (PubMed:36402789). ; FUNCTION:
PDB 1WXM , 2MSE , 9AXM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02196 RBD 20 89 Raf-like Ras-binding domain Domain
PF00130 C1_1 99 147 Phorbol esters/diacylglycerol binding domain (C1 domain) Domain
PF07714 PK_Tyr_Ser-Thr 310 567 Protein tyrosine and serine/threonine kinase Domain
Tissue specificity TISSUE SPECIFICITY: Predominantly in urogenital tissues.
Sequence
Sequence length 606
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ARAF-related disorder Uncertain significance rs143311445 RCV003459008
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Habitual Inhibit 30206208
Adenocarcinoma of Lung Associate 24569458, 26486077
Autistic Disorder Associate 21848643
Breast Neoplasms Inhibit 26891695
Carcinoma Non Small Cell Lung Associate 26486077, 33629637
Colorectal Neoplasms Associate 26222778
Glioblastoma Associate 25943352
Glioma Inhibit 27852048
Herpes Simplex Associate 34308964
Histiocytosis Associate 26566875