ADNP

Chr 20q13.13

activity dependent neuroprotector homeobox

Aliases:: KIAA0784, ADNP1
MANE:: ENST00000621696.5

OMIM: 611386 ↗NCBI: 23394 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

ADNP · Q9H2P0

v62025-08-01

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

Mean pLDDT

56.2/ 100

Low

1,102 residues

Confidence breakdown

Very high(≥ 90)5%
Confident(70–90)31%
Low(50–70)10%
Very low(< 50)54%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
0.78
ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder
0.74
hereditary disease
0.55
Intellectual disability
0.53
neurodegenerative disease
0.49
prostate carcinoma
0.41
Global developmental delay
0.35
neurodevelopmental disorder
0.35
Seizure
0.29
autism spectrum disorder
0.28

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

Protein function (UniProt)

Activity-dependent neuroprotector homeobox protein

May be involved in transcriptional regulation. May mediate some of the neuroprotective peptide VIP-associated effects involving normal growth and cancer proliferation. Positively modulates WNT-beta-catenin/CTNN1B signaling, acting by regulating phosphorylation of, and thereby stabilizing, CTNNB1. May be required for neural induction and neuronal differentiation. May be involved in erythroid differentiation (By similarity)