ADNP Chromosome 20

Activity dependent neuroprotector homeobox

181 variants 181 Health Risk

Upload your DNA to see your personal genotypes for variants in ADNP.

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
RS1555809953	Health Risk	Pathogenic	—
RS1555809957	Health Risk	Pathogenic	—
RS1555809984	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
RS1555809987	Health Risk	Pathogenic	—
RS1555810001	Health Risk	Pathogenic	—
RS1555810093	Health Risk	Pathogenic	—
RS1555810308	Health Risk	Pathogenic	Inborn genetic diseases, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, Inborn genetic diseases
RS1555810335	Health Risk	Pathogenic	—
RS1555810794	Health Risk	Pathogenic	—
RS1568710501	Health Risk	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS1568722170	Health Risk	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS1600930118	Health Risk	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS1600930164	Health Risk	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS1600934347	Health Risk	Pathogenic	—
RS1600956591	Health Risk	Pathogenic	—
RS1980870018	Health Risk	Pathogenic	—
RS1980968803	Health Risk	Pathogenic	—
RS1980971358	Health Risk	Pathogenic	—
RS1980973531	Health Risk	Pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS1981021559	Health Risk	Pathogenic	Intellectual disability, ADNP-related disorder, Intellectual disability
RS1981038382	Health Risk	Pathogenic	Intellectual disability, Intellectual disability
RS1981049319	Health Risk	Pathogenic	—
RS1981068436	Health Risk	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS1981083173	Health Risk	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS1981115656	Health Risk	Pathogenic	—
RS1981125064	Health Risk	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS1981147033	Health Risk	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS1981170986	Health Risk	Pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS1982228705	Health Risk	Pathogenic	Intellectual disability, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, Intellectual disability
RS2122741062	Health Risk	Pathogenic	—
RS2122742586	Health Risk	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2122743080	Health Risk	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2122743279	Health Risk	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2122743549	Health Risk	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2122746230	Health Risk	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2122746625	Health Risk	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2122749829	Health Risk	Pathogenic	—
RS2122759209	Health Risk	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2122761731	Health Risk	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2122840340	Health Risk	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2122840680	Health Risk	Pathogenic	—
RS2489790262	Health Risk	Pathogenic	ADNP-related disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related disorder
RS2515578092	Health Risk	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2515578388	Health Risk	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2515578564	Health Risk	Pathogenic	—
RS2515579143	Health Risk	Pathogenic	—
RS2515579173	Health Risk	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2515579204	Health Risk	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2515579850	Health Risk	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2515580826	Health Risk	Pathogenic	—

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