ADNP Chromosome 20

Activity dependent neuroprotector homeobox

181 variants 181 Health Risk

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What This Gene Does

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]

Gene Info

Gene Group

"Zinc fingers C2H2-type|ZF class homeoboxes and pseudogenes"

Locus Type

gene with protein product

Location

20q13.13

Ensembl

ENSG00000101126

Associated Conditions (13)

Inborn genetic diseases

ADNP-related disorder

ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

See cases

Autism spectrum disorder

Neurodevelopmental delay

Intellectual disability

Autism

severe

intellectual deficiency

Global developmental delay

Neurodevelopmental disorder

8 conditions

Key Variants

RS1005810029

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS1055988910

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS1251589256

Conflicting classifications of pathogenicity

Health Risk

RS1279657093

Conflicting classifications of pathogenicity

Health Risk

RS1282824691

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS1392946940

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS140023121

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS1409671867

Conflicting classifications of pathogenicity

Health Risk

RS141535413

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS1421203572

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS1464452152

Conflicting classifications of pathogenicity

Health Risk

RS147299402

Conflicting classifications of pathogenicity

Health Risk

All Variants (181)

RSID	Category	Clinical Significance	Conditions
RS2515580879	Health Risk	Pathogenic	—
RS2515581836	Health Risk	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2515581917	Health Risk	Pathogenic	—
RS2515585006	Health Risk	Pathogenic	—
RS2515586557	Health Risk	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2515589365	Health Risk	Pathogenic	—
RS2515621342	Health Risk	Pathogenic	—
RS2515621585	Health Risk	Pathogenic	—
RS2515621708	Health Risk	Pathogenic	—
RS2515621745	Health Risk	Pathogenic	—
RS2515621772	Health Risk	Pathogenic	—
RS587777523	Health Risk	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, Inborn genetic diseases, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS587777524	Health Risk	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS587777525	Health Risk	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS587777526	Health Risk	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, Inborn genetic diseases, ADNP-related disorder
RS779340209	Health Risk	Pathogenic	Inborn genetic diseases, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, See cases
RS886039649	Health Risk	Pathogenic	—
RS886041449	Health Risk	Pathogenic	—
RS886041498	Health Risk	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS886041722	Health Risk	Pathogenic	—
RS886041741	Health Risk	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS886042001	Health Risk	Pathogenic	—
RS886042003	Health Risk	Pathogenic	—
RS886042026	Health Risk	Pathogenic	—
RS886056775	Health Risk	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS1057518991	Health Risk	Pathogenic/Likely pathogenic	Autism, severe, intellectual deficiency
RS1135401808	Health Risk	Pathogenic/Likely pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, Intellectual disability, Neurodevelopmental disorder
RS1980777288	Health Risk	Pathogenic/Likely pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, Inborn genetic diseases, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS1982229334	Health Risk	Pathogenic/Likely pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, See cases, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS587777522	Health Risk	Pathogenic/Likely pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, Intellectual disability, Inborn genetic diseases
RS886041116	Health Risk	Pathogenic/Likely pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, 8 conditions, Inborn genetic diseases

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