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,... See more...

Aliases for ADNP Gene

Aliases for ADNP Gene

  • Activity Dependent Neuroprotector Homeobox 2 3 5
  • Activity-Dependent Neuroprotector Homeobox Protein 3 4
  • Activity-Dependent Neuroprotective Protein 3 4
  • Activity-Dependent Neuroprotector 2 3
  • ADNP Homeobox 1 2 3
  • ADNP1 3 4
  • KIAA0784 4
  • HVDAS 3
  • MRD28 3

External Ids for ADNP Gene

Previous GeneCards Identifiers for ADNP Gene

  • GC20M049235
  • GC20M050145
  • GC20M050192
  • GC20M048940
  • GC20M049505
  • GC20M046255

Summaries for ADNP Gene

Entrez Gene Summary for ADNP Gene

  • 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]

GeneCards Summary for ADNP Gene

ADNP (Activity Dependent Neuroprotector Homeobox) is a Protein Coding gene. Diseases associated with ADNP include Helsmoortel-Van Der Aa Syndrome and Growth Hormone Deficiency. Gene Ontology (GO) annotations related to this gene include chromatin binding. An important paralog of this gene is ADNP2.

UniProtKB/Swiss-Prot Summary for ADNP Gene

  • Potential transcription factor. May mediate some of the neuroprotective peptide VIP-associated effects involving normal growth and cancer proliferation.

Additional gene information for ADNP Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ADNP Gene

Genomics for ADNP Gene

GeneHancer (GH) Regulatory Elements for ADNP Gene

Promoters and enhancers for ADNP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J050928 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 536.4 +1.0 958 5 EP300 RXRA HNRNPK ZBTB40 ZNF217 CTCF TCF12 SIN3A MYC NRF1 ADNP ADNP-AS1 CEBPB BCAS4 DPM1 ENSG00000232043 PSMD10P1 PTPN1
GH20J050186 Promoter/Enhancer 2.4 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 137.3 +740.1 740061 10.1 EP300 HNRNPK FOXK2 ZNF217 CTCF ZSCAN5C TCF12 MYC NRF1 POLR2G CEBPB CEBPB-AS1 NONHSAG031997.2 DDX27 ADNP DPM1 PSMD10P1 ENSG00000232043 SNORD12B PTPN1
GH20J050905 Promoter 0.6 EPDnew 500.3 +25.9 25862 0.1 ZNF316 CEBPG CEBPB ADNP PSMD10P1 piR-44011
GH20J050109 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 63 +818.2 818239 7 ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 USF1 POLR2G GTF2E2 PHF8 UBE2V1 TMEM189-UBE2V1 DDX27 ADNP DPM1 LINC01273 PSMD10P1 ENSG00000232043 PTPN1 SNORD12B
GH20J049934 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 62.3 +994.4 994401 4.7 FOXK2 ZBTB40 ZNF217 EP300 CTCF ZSCAN5C TCF12 SIN3A NRF1 USF1 RNF114 DDX27 ADNP SPATA2 ENSG00000232043 SNORD12B PSMD10P1 PTPN1 SNORD12 KRT18P4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADNP on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ADNP

Top Transcription factor binding sites by QIAGEN in the ADNP gene promoter:
  • AML1a
  • AREB6
  • NF-1
  • NF-1/L
  • Pax-3
  • POU2F1
  • POU2F1a
  • Roaz
  • USF-1
  • USF1

Genomic Locations for ADNP Gene

Genomic Locations for ADNP Gene
chr20:50,888,916-50,931,437
(GRCh38/hg38)
Size:
42,522 bases
Orientation:
Minus strand
chr20:49,505,585-49,547,958
(GRCh37/hg19)
Size:
42,374 bases
Orientation:
Minus strand

Genomic View for ADNP Gene

Genes around ADNP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADNP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADNP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADNP Gene

Proteins for ADNP Gene

  • Protein details for ADNP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H2P0-ADNP_HUMAN
    Recommended name:
    Activity-dependent neuroprotector homeobox protein
    Protein Accession:
    Q9H2P0
    Secondary Accessions:
    • E1P5Y2
    • O94881
    • Q5BKU2
    • Q9UG34

    Protein attributes for ADNP Gene

    Size:
    1102 amino acids
    Molecular mass:
    123563 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • When isolated from the sequence, neuroprotective peptide (NAP) provides neuroprotection against the amyloid-beta peptide.

neXtProt entry for ADNP Gene

Post-translational modifications for ADNP Gene

  • Glycosylation at Asn315
  • Ubiquitination at Lys126, Lys773, and Lys777
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

No data available for DME Specific Peptides for ADNP Gene

Domains & Families for ADNP Gene

Gene Families for ADNP Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ADNP Gene

Suggested Antigen Peptide Sequences for ADNP Gene

GenScript: Design optimal peptide antigens:
  • Activity-dependent neuroprotective protein (ADNP_HUMAN)
  • Activity-dependent neuroprotector homeobox (Q6DHZ8_HUMAN)
genes like me logo Genes that share domains with ADNP: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ADNP Gene

Function for ADNP Gene

Molecular function for ADNP Gene

UniProtKB/Swiss-Prot Function:
Potential transcription factor. May mediate some of the neuroprotective peptide VIP-associated effects involving normal growth and cancer proliferation.

Phenotypes From GWAS Catalog for ADNP Gene

Gene Ontology (GO) - Molecular Function for ADNP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
GO:0005507 copper ion binding IEA --
genes like me logo Genes that share ontologies with ADNP: view
genes like me logo Genes that share phenotypes with ADNP: view

Human Phenotype Ontology for ADNP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ADNP Gene

MGI Knock Outs for ADNP:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADNP

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ADNP Gene

Localization for ADNP Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADNP Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADNP gene
Compartment Confidence
nucleus 5
extracellular 3
cytoskeleton 3
cytosol 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ADNP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005615 extracellular space IEA --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0030424 axon IEA --
genes like me logo Genes that share ontologies with ADNP: view

Pathways & Interactions for ADNP Gene

PathCards logo

SuperPathways for ADNP Gene

No Data Available

Gene Ontology (GO) - Biological Process for ADNP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0007614 short-term memory IEA --
GO:0009743 response to carbohydrate IEA --
GO:0010035 response to inorganic substance IEA --
GO:0010629 negative regulation of gene expression IEA --
genes like me logo Genes that share ontologies with ADNP: view

No data available for Pathways by source and SIGNOR curated interactions for ADNP Gene

Drugs & Compounds for ADNP Gene

(1) Drugs for ADNP Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for ADNP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ADNP: view

Transcripts for ADNP Gene

mRNA/cDNA for ADNP Gene

5 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADNP

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADNP Gene

No ASD Table

Relevant External Links for ADNP Gene

GeneLoc Exon Structure for
ADNP

Expression for ADNP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ADNP Gene

Protein differential expression in normal tissues from HIPED for ADNP Gene

This gene is overexpressed in Peripheral blood mononuclear cells (13.5), Fetal testis (7.0), and CD8 Tcells (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ADNP Gene



Protein tissue co-expression partners for ADNP Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ADNP

SOURCE GeneReport for Unigene cluster for ADNP Gene:

Hs.570355

mRNA Expression by UniProt/SwissProt for ADNP Gene:

Q9H2P0-ADNP_HUMAN
Tissue specificity: Widely expressed. Strong expression in heart, skeletal muscle, kidney and placenta. In brain, expression is stronger in the cerebellum and cortex regions. No expression detected in the colon. Strong increase of expression in colon and breast cancer tissues.

Evidence on tissue expression from TISSUES for ADNP Gene

  • Nervous system(4.9)
  • Liver(4.3)
  • Intestine(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ADNP Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • immune
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • eyelid
  • face
  • forehead
  • head
  • lip
  • nose
  • skull
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • peripheral nervous system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with ADNP: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ADNP Gene

Orthologs for ADNP Gene

This gene was present in the common ancestor of chordates.

Orthologs for ADNP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADNP 31 30
  • 99.67 (n)
OneToOne
cow
(Bos Taurus)
Mammalia bta-mir-6527 31
  • 97 (a)
OneToOne
ADNP 30
  • 92.13 (n)
dog
(Canis familiaris)
Mammalia ADNP 31 30
  • 94.46 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ADNP 31
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Adnp 30
  • 90.25 (n)
mouse
(Mus musculus)
Mammalia Adnp 17 31 30
  • 90.12 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ADNP 31
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADNP 31 30
  • 80.78 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADNP 31
  • 19 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia adnp 30
  • 69.87 (n)
Str.4445 30
zebrafish
(Danio rerio)
Actinopterygii adnp 30
  • 63.34 (n)
adnpb 31
  • 54 (a)
OneToMany
adnpa 31
  • 48 (a)
OneToMany
wufi72f04 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4117 30
Species where no ortholog for ADNP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ADNP Gene

ENSEMBL:
Gene Tree for ADNP (if available)
TreeFam:
Gene Tree for ADNP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ADNP: view image

Paralogs for ADNP Gene

Paralogs for ADNP Gene

(1) SIMAP similar genes for ADNP Gene using alignment to 3 proteins:

  • ADNP_HUMAN
  • E9PQK8_HUMAN
  • Q6DHZ8_HUMAN
genes like me logo Genes that share paralogs with ADNP: view

Variants for ADNP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ADNP Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
587808 Benign: History of neurodevelopmental disorder 50,892,647(-) G/A SYNONYMOUS_VARIANT
587838 Benign: History of neurodevelopmental disorder 50,892,638(-) C/T SYNONYMOUS_VARIANT
587839 Benign: History of neurodevelopmental disorder 50,892,146(-) G/A SYNONYMOUS_VARIANT
587880 Benign: History of neurodevelopmental disorder 50,892,239(-) C/A SYNONYMOUS_VARIANT
587993 Likely Benign: History of neurodevelopmental disorder 50,892,782(-) T/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ADNP Gene

Structural Variations from Database of Genomic Variants (DGV) for ADNP Gene

Variant ID Type Subtype PubMed ID
nsv1072547 CNV deletion 25765185
nsv1143987 CNV deletion 24896259
nsv834002 CNV loss 17160897
nsv954057 CNV deletion 24416366

Variation tolerance for ADNP Gene

Residual Variation Intolerance Score: 3.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.16; 39.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADNP Gene

Human Gene Mutation Database (HGMD)
ADNP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADNP

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADNP Gene

Disorders for ADNP Gene

MalaCards: The human disease database

(20) MalaCards diseases for ADNP Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
helsmoortel-van der aa syndrome
  • hvdas
growth hormone deficiency
  • isolated somatotropin deficiency
rare hypothyroidism
corpus callosum, agenesis of
  • acc
hypothyroidism
  • thyroid deficiency
- elite association - COSMIC cancer census association via MalaCards
Search ADNP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ADNP_HUMAN
  • Helsmoortel-van der Aa syndrome (HVDAS) [MIM:615873]: A disorder characterized by intellectual disability, autism spectrum disorder, and dysmorphic facial features including prominent forehead, high hairline, downslanting palpebral fissures, notched eyelids, broad nasal bridge, thin upper lip, and smooth philtrum. {ECO:0000269 PubMed:24531329}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ADNP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ADNP: view

No data available for Genatlas for ADNP Gene

Publications for ADNP Gene

  1. Cloning and characterization of the human activity-dependent neuroprotective protein. (PMID: 11013255) Zamostiano R … Gozes I (The Journal of biological chemistry 2001) 2 3 4 23 54
  2. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9872452) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 54
  3. A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. (PMID: 24531329) Helsmoortel C … Van der Aa N (Nature genetics 2014) 3 4 54
  4. Expression of activity-dependent neuroprotective protein in the immune system: possible functions and relevance to multiple sclerosis. (PMID: 19923857) Braitch M … Constantinescu CS (Neuroimmunomodulation 2010) 3 23 54
  5. Activity-dependent neuroprotective protein constitutes a novel element in the SWI/SNF chromatin remodeling complex. (PMID: 17878164) Mandel S … Gozes I (The Journal of biological chemistry 2007) 3 23 54

Products for ADNP Gene

Sources for ADNP Gene