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ADNP (gene)

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ADNP
Identifiers
AliasesADNP, ADNP1, MRD28, HVDAS, activity-dependent neuroprotector homeobox, activity dependent neuroprotector homeobox
External IDsOMIM: 611386; MGI: 1338758; HomoloGene: 7617; GeneCards: ADNP; OMA:ADNP - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 2: 168.02 – 168.05 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Activity-dependent neuroprotector homeobox is a protein that in humans is encoded by the ADNP gene.[5]

Function

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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

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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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000101126Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000051149Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: Activity-dependent neuroprotector homeobox". Retrieved 2014-05-20.
  6. ^ Helsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, Rooms L, van den Ende J, Schuurs-Hoeijmakers JH, Marcelis CL, Willemsen MH, Vissers LE, Yntema HG, Bakshi M, Wilson M, Witherspoon KT, Malmgren H, Nordgren A, Annerén G, Fichera M, Bosco P, Romano C, de Vries BB, Kleefstra T, Kooy RF, Eichler EE, Van der Aa N (2014). "A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP". Nature Genetics. 46 (4): 380–4. doi:10.1038/ng.2899. PMC 3990853. PMID 24531329.
  7. ^ "ADNP syndrome: MedlinePlus Genetics". medlineplus.gov. Retrieved 2023-04-19.
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Further reading

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