IHH

Chr 2q35

Indian hedgehog signaling molecule

Aliases:: HHG2, BDA1
MANE:: ENST00000295731.7

OMIM: 600726 ↗NCBI: 3549 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

IHH · Q14623

v62025-08-01

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

Mean pLDDT

84.3/ 100

Confident

411 residues

Confidence breakdown

Very high(≥ 90)54%
Confident(70–90)30%
Low(50–70)9%
Very low(< 50)7%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rare syndromic craniosynostosis or isolated multisuture synostosis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
VACTERL-like phenotypes
Osteogenesis imperfecta

Disease associations (Open Targets)

brachydactyly type A1
0.78
acrocapitofemoral dysplasia
0.75
brachydactyly type A1A
0.46
brachydactyly
0.41
syndactyly type 1
0.39
acromesomelic dysplasia 1, Maroteaux type
0.28
osteoarthritis, knee
0.25
medical procedure
0.22
hypothyroidism
0.21
liver disorder
0.20

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

Protein function (UniProt)

Indian hedgehog protein

Precursor of indian hedgehog, a morphogen that activates the smoothened signaling pathway, and which is essential for bone and cartilage development (By similarity). The C-terminal part of the precursor displays an autoproteolysis and a cholesterol transferase activity, resulting (1) in the cleavage of the full-length protein into two parts, indian hedgehog protein N-product and C-product and (2) covalent attachment of a cholesterol moiety to the C-terminus of the newly generated N-product (By similarity). Both autoproteolysis and a cholesterol transferase activities occur in the endoplasmic reticulum (By similarity). Following additional lipidation, N-product acts as a morphogen, while C-product is degraded in the endoplasmic reticulum (By similarity)