ARAF

Chr Xp11.3

A-Raf proto-oncogene, serine/threonine kinase

Aliases:: A-Raf
MANE:: ENST00000377045.9

OMIM: 311010 ↗NCBI: 369 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

ARAF · P10398

v62025-08-01

Predicted Aligned Error matrix for ARAF — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

70.1/ 100

Confident

606 residues

Confidence breakdown

Very high(≥ 90)32%
Confident(70–90)28%
Low(50–70)8%
Very low(< 50)32%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Segmental overgrowth disorders - Deep sequencing
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mosaic skin disorders - deep sequencing
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

cancer
0.56
Noonan syndrome
0.54
Costello syndrome
0.54
hypertrophic cardiomyopathy
0.54
low grade glioma
0.50
lymphatic malformation 12
0.42
glioma
0.38
colorectal adenocarcinoma
0.28
lung adenocarcinoma
0.24
small cell lung carcinoma
0.22

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Serine/threonine-protein kinase A-Raf

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)