ADNP
Identifiers
Aliases	ADNP, ADNP1, MRD28, HVDAS, activity-dependent neuroprotector homeobox, activity dependent neuroprotector homeobox
External IDs	OMIM: 611386 MGI: 1338758 HomoloGene: 7617 GeneCards: ADNP
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20q13.13 Start 50,888,916 bp[1] End 50,931,437 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 H3 Start 168,022,906 bp[2] End 168,049,032 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence germinal epithelium corpus epididymis caput epididymis palpebral conjunctiva retinal pigment epithelium amniotic fluid lactiferous duct sperm parotid gland Top expressed in ganglionic eminence spermatocyte spermatid uterus thymus cerebellar cortex hippocampus proper superior frontal gyrus morula olfactory bulb More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding peptide binding chromatin binding metal ion binding protein binding copper ion binding nucleic acid binding DNA-binding transcription factor activity, RNA polymerase II-specific beta-tubulin binding Cellular component cytoplasm axon neuronal cell body dendrite nucleus extracellular space Biological process cellular response to extracellular stimulus negative regulation of neuron apoptotic process regulation of protein ADP-ribosylation regulation of transcription, DNA-templated estrous cycle nitric oxide homeostasis negative regulation of synaptic transmission negative regulation of protein binding negative regulation of gene expression transcription, DNA-templated short-term memory response to inorganic substance positive regulation of neuron projection development positive regulation of peptidyl-tyrosine phosphorylation positive regulation of axon extension response to carbohydrate activation of protein kinase activity positive regulation of synapse assembly regulation of transcription by RNA polymerase II cGMP-mediated signaling Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23394 11538 Ensembl ENSG00000101126 ENSMUSG00000051149 UniProt Q9H2P0 Q9Z103 RefSeq (mRNA) NM_001282531 NM_001282532 NM_015339 NM_181442 NM_001347511 NM_009628 NM_001310086 NM_001310088 RefSeq (protein) NP_001269460 NP_001269461 NP_001334440 NP_056154 NP_852107 NP_001297015 NP_001297017 NP_033758 Location (UCSC) Chr 20: 50.89 – 50.93 Mb Chr 2: 168.02 – 168.05 Mb PubMed search [3] [4]
Wikidata
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Activity-dependent neuroprotector homeobox is a protein that in humans is encoded by the ADNP gene.^[5]

Function

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.^[5]

Clinical significance

Mutations in ADNP are the cause of ADNP syndrome.^[6] Although it is unclear how mutations in the ADNP gene affect ADNP protein function, researchers suggest that the mutations result in abnormal chromatin remodeling. Disturbance of this process alters the activity of many genes and disrupts development or function of several of the body's tissues and organs, including the brain.^[7]

References

External links

• Human ADNP genome location and ADNP gene details page in the UCSC Genome Browser.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.