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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
ARAF-related disorder Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIFFUSE LYMPHATIC MALFORMATION GenCC
★★☆☆☆
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 15676015
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 14688025
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 14688025
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 24569458
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CLINVAR_DG 24569458, 26619011
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CGI_DG
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 15596564
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 21848643 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma CTD_human_DG 12432273
★☆☆☆☆
Found in Text Mining only