SPRED2

Chr 2p14

sprouty related EVH1 domain containing 2

Aliases:: Spred-2, FLJ21897, FLJ31917
MANE:: ENST00000356388.9

OMIM: 609292 ↗NCBI: 200734 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

SPRED2 · Q7Z698

v62025-08-01

Predicted Aligned Error matrix for SPRED2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

68.7/ 100

Low

418 residues

Confidence breakdown

Very high(≥ 90)32%
Confident(70–90)22%
Low(50–70)9%
Very low(< 50)37%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Familial non syndromic congenital heart disease
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Monogenic short stature
BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomal
RASopathies
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Noonan syndrome
0.66
Noonan syndrome 14
0.61
Abnormality of the skeletal system
0.58
Global developmental delay
0.53
Short stature
0.53
short stature due to GHSR deficiency
0.53
Intellectual disability
0.53
type 2 diabetes mellitus
0.52
diabetes mellitus
0.46
rheumatoid arthritis
0.45

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

Protein function (UniProt)

Sprouty-related, EVH1 domain-containing protein 2

Negatively regulates Ras signaling pathways and downstream activation of MAP kinases (PubMed:15683364, PubMed:34626534). Recruits and translocates NF1 to the cell membrane, thereby enabling NF1-dependent hydrolysis of active GTP-bound Ras to inactive GDP-bound Ras (PubMed:34626534). Inhibits fibroblast growth factor (FGF)-induced retinal lens fiber differentiation, probably by inhibiting FGF-mediated phosphorylation of ERK1/2 (By similarity). Inhibits TGFB-induced epithelial-to-mesenchymal transition in lens epithelial cells (By similarity)