protein
Activity-dependent neuroprotector homeobox protein
Gene
ADNP
Organism
Homo sapiens(9606)
Length
1102 aa
Mass
123,563 Da
ADNP (Activity-dependent neuroprotector homeobox protein) is a transcriptional regulator that plays a role in neuroprotection and developmental signaling (UniProt: Q9H2P0). The protein mediates neuroprotective effects associated with the VIP peptide and positively modulates WNT-beta-catenin signaling by stabilizing CTNNB1 through phosphorylation regulation. It is implicated in neural induction, neuronal differentiation, and erythroid differentiation.
ADNP is expressed during neural development and is associated with Helsmoortel-van der Aa syndrome (HVDAS), a disorder characterized by intellectual disability, autism spectrum disorder, and distinctive dysmorphic facial features including a prominent forehead, high hairline, downslanting palpebral fissures, notched eyelids, broad nasal bridge, thin upper lip, and smooth philtrum (UniProt: Q9H2P0).
ADNP is classified as SFARI Category 1 and syndromic (SFARI Cat 1), indicating strong evidence for autism risk association. Mutations in ADNP are recognized as a significant genetic cause of syndromic autism spectrum disorder linked to neurodevelopmental dysfunction.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
High confidence — strong genetic evidence from multiple studies
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
Function
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)
Disease associations
Helsmoortel-van der Aa syndromeHVDAS
A disorder characterized by intellectual disability, autism spectrum disorder, and dysmorphic facial features including prominent forehead, high hairline, downslanting palpebral fissures, notched eyelids, broad nasal bridge, thin upper lip, and smooth philtrum.
Sources
Last updated 5/6/2026, 5:25:51 AM