PTCH2

Chr 1p34.1

patched 2

Aliases:: SLC65B2
MANE:: ENST00000372192.4

OMIM: 603673 ↗NCBI: 8643 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

PTCH2 · Q9Y6C5

v62025-08-01

Predicted Aligned Error matrix for PTCH2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

78.9/ 100

Confident

1,203 residues

Confidence breakdown

Very high(≥ 90)41%
Confident(70–90)38%
Low(50–70)4%
Very low(< 50)17%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Genodermatoses with malignancies
Hydrocephalus
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Multiple monogenic benign skin tumours
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

nevoid basal cell carcinoma syndrome
0.54
neurodegenerative disease
0.43
basal cell carcinoma
0.39
lateral facial cleft
0.37
commissural facial cleft
0.37
hypothyroidism
0.32
Abnormality of the skeletal system
0.32
stroke disorder
0.30
alcohol drinking
0.30
hereditary breast carcinoma
0.27

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

Protein function (UniProt)

Protein patched homolog 2

Negative regulator of the smoothened signaling pathway, which acts as a receptor for hedgehog (SHH, IHH and DHH) morphogens (PubMed:9811851). In absence of hedgehog, acts as an inhibitor of smoothened protein (SMO) by preventing SMO access to cholesterol: mechanistically, acts as a cholesterol transporter, which depeletes cholesterol from the outer leaflet of plasma membrane, thereby preventing cholesterol-binding to the extracellular CRD region of SMO. Hedgehog-binding inhibits PTCH1 cholesterol transporter activity, promoting SMO activation by cholesterol and transduction of the smoothened signaling pathway. Molecular mechanism governing cholesterol transport are still unclear: may move cholesterol from the outer to the inner leaflet of the membrane in exchange for potassium or sodium ion export in the opposite direction (By similarity). In contrast to PTCH1 ortholog, PTCH2 is not essential for viability and plays a more limited role. Plays a role in epidermal homeostasis in mature skin (By similarity). Plays a role in the control of cellular growth (PubMed:18285427)