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FLASH GENE
Symbol ADNP contributors: mct - updated : 16-10-2015
HGNC name activity-dependent neuroprotector
HGNC id 15766
Corresponding disease
HVDAS Helsmoortel-van der Aa syndrome
Location 20q13.2      Physical location : 49.506.882 - 49.547.527
Synonym symbol(s) KIAA0784, ADNP1
DNA
TYPE functioning gene
STRUCTURE 42.07 kb     5 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
B4GALT5 20q13.1-q13.2 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5 SNRPFP1 20 small nuclear ribonucleoprotein polypeptide F pseudogene 1 SLC9A8 20q13.13 solute carrier family 9 (sodium/hydrogen exchanger), isoform 8 SPATA2 20q13.1-q13.2 spermatogenesis associated 2 ZNF313 20q13.13 zinc finger protein 313 LOC391256 20 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) SNAI1 20q13.2 snail homolog 1 (Drosophila) LOC149738 20q13.13 hypothetical LOC149738 UBE2V1 20q13.2 ubiquitin-conjugating enzyme E2 variant 1 CEBPB 20q13.1 CCAAT/enhancer binding protein (C/EBP), beta COX6CP2 20 cytochrome c oxidase subunit VIc pseudogene 2 PTPN1 20q13.1-q13.2 protein tyrosine phosphatase, non-receptor type 1 LOC200230 20q13.13 similar to KIAA0386 C20orf175 20 chromosome 20 open reading frame 175 RPL36P2 20q13.1 ribosomal protein L36 pseudogene 2 PARD6B 20q13.13 par-6 partitioning defective 6 homolog beta (C. elegans) BCAS4 20q13.13-q13.2 breast carcinoma amplified sequence 4 TMSL6 20 thymosin-like 6 ADNP 20q13.3-q13.2 activity-dependent neuroprotector PSMD10P 20q13.13 proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 pseudogene DPM1 20q13.13 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit MOCS3 20 molybdenum cofactor synthesis 3 KCNG1 20q13 potassium voltage-gated channel, subfamily G, member 1 LAMR1P1 20q13.3 laminin receptor 1 pseudogene 1 NFATC2 20q13.2-q13.31 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 ATP9A 20q13.1-q13.2 ATPase, class II, type 9A SALL4 20q13.13-q13.2 sal-like 4 (Drosophila)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 splicing 5983 - 1102 - 2001 11013255
5 - 6158 - 1102 - 2001 11013255
5 - 6242 - 1102 - 2001 11013255
4 - 6110 - 1102 - 2001 11013255
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Nervousbrain    
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousoligodendrocyte Homo sapiens
cell lineage
cell lines highly expressed in malignant cells
fluid/secretion
at STAGE
physiological period fetal
Text brain
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • nine zinc fingers,
  • a proline-rich region,
  • a nuclear bipartite localization signal (NLS) and
  • a helix-turn-helix (homeo box) domain,including a neuroprotective peptide
  • HOMOLOGY
    interspecies homolog to murine Adnp
    intraspecies homolog to ADNP2
    Homologene
    FAMILY
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • potential neuroprotective protein
  • may be involved in the stimulatory effect of VIP on certain tumor cells
  • is essential for brain formation, proper brain development and neuronal plasticity
  • CELLULAR PROCESS cell life, antiapoptosis
    PHYSIOLOGICAL PROCESS
    text cell survival,perhaps through modulation of p53
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • VIP regulated brain ADNP expression in a regionally specific manner and both maternal and offspring VIP genotype may influence ADNP expression in the brain
  • imbalance in ADNP/ADNP2 expression in the brain may impact disease progression in schizophrenia
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HVDAS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    affects social interactions, a major hallmark of schizophrenia
    constitutional     --over  
    associated with the initial stages of the disease, possibly reflecting a compensatory effect
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Adnp haploinsufficiency in mice, results in age-related neuronal death, cognitive and social dysfunction, exhibited reduced hippocampal Becn1 and increased Bcl2 expression