ADNP

Chr 20

activity dependent neuroprotector homeobox

Also known as: ADNP1, HVDAS, MRD28

NCBI Gene: 23394ENSG00000101126UniProt: Q9H2P0

Vasoactive intestinal peptide is a neuroprotective factor that has a stimulatory effect on the growth of some tumor cells and an inhibitory effect on others. This gene encodes a protein that is upregulated by vasoactive intestinal peptide and may be involved in its stimulatory effect on certain tumor cells. The encoded protein contains one homeobox and nine zinc finger domains, suggesting that it functions as a transcription factor. This gene is also upregulated in normal proliferative tissues. Finally, the encoded protein may increase the viability of certain cell types through modulation of p53 activity. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtHelsmoortel-van der Aa syndrome

Clinical highlights

Gene-disease validity (ClinGen)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder · ADDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
2
Active trials
65
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.12
LOEUF· LoF intol.
LOF
Mechanism· G2P
📖
GeneReview available — ADNP
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.12LOEUF
pLI 1.000
Z-score 5.61
OE 0.03 (0.01–0.12)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?
2.07Z-score
OE missense 0.76 (0.70–0.82)
439 obs / 579.4 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.03 (0.01–0.12)
0≤0.351.4
Missense OE?0.76 (0.70–0.82)
0≤0.61.4
Synonymous OE?1.34
0≤1.21.6
LoF obs/exp: 1 / 38.7Missense obs/exp: 439 / 579.4Syn Z: -3.92

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ADNP · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients