ADNP activity dependent neuroprotector homeobox
Gene ID: 23394, updated on 10-Oct-2024Gene type: protein coding
Also known as: ADNP1; HVDAS; MRD28
- See all available tests in GTR for this gene
- Go to complete Gene record for ADNP
- Go to Variation Viewer for ADNP variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
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A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer. GeneReviews: Not available | |
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | See labs |
Copy number response
Description |
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Copy number response Triplosensitivity No evidence available (Last evaluated 2017-11-22) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2017-11-22) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 20q13.13
- Sequence:
- Chromosome: 20; NC_000020.11 (50888918..50931437, complement)
- Total number of exons:
- 8
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for ADNP variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ADNP database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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