Human Gene ADNP (ENST00000621696.5_7) from GENCODE V47lift37
  Description: activity dependent neuroprotector homeobox, transcript variant 5 (from RefSeq NM_001347511.2)
Gencode Transcript: ENST00000621696.5_7
Gencode Gene: ENSG00000101126.18_13
Transcript (Including UTRs)
   Position: hg19 chr20:49,505,455-49,547,974 Size: 42,520 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr20:49,507,942-49,520,533 Size: 12,592 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:49,505,455-49,547,974)mRNA (may differ from genome)Protein (1102 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ADNP_HUMAN
DESCRIPTION: RecName: Full=Activity-dependent neuroprotector homeobox protein; AltName: Full=Activity-dependent neuroprotective protein;
FUNCTION: Potential transcription factor. May mediate some of the neuroprotective peptide VIP-associated effects involving normal growth and cancer proliferation.
INTERACTION: P83916:CBX1; NbExp=2; IntAct=EBI-1764854, EBI-78129; Q13185:CBX3; NbExp=2; IntAct=EBI-1764854, EBI-78176; P45973:CBX5; NbExp=2; IntAct=EBI-1764854, EBI-78219;
SUBCELLULAR LOCATION: Nucleus (Potential).
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.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
MISCELLANEOUS: When isolated from the sequence, neuroprotective peptide (NAP) provides neuroprotection against the beta-amyloid peptide.
SIMILARITY: Contains 9 C2H2-type zinc fingers.
SIMILARITY: Contains 1 homeobox DNA-binding domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ADNP
Diseases sorted by gene-association score: helsmoortel-van der aa syndrome* (1370), adnp-related intellectual disability and autism spectrum disorder* (400), adnp syndrome* (400), autism spectrum disorder (9), duane-radial ray syndrome (6), fetal alcohol spectrum disorder (5), fetal alcohol syndrome (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • C006253 pirinixic acid
  • C028474 1,4-bis(2-(3,5-dichloropyridyloxy))benzene
  • D015632 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine
  • C095284 1H-(1,2,4)oxadiazolo(4,3-a)quinoxalin-1-one
  • C111118 2',3,3',4',5-pentachloro-4-hydroxybiphenyl
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • C080122 7-nitroindazole
  • D000082 Acetaminophen
  • D016604 Aflatoxin B1
  • D000643 Ammonium Chloride
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -336.50876-0.384 Picture PostScript Text
3' UTR -673.702487-0.271 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001356 - Homeodomain
IPR009057 - Homeodomain-like
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

Pfam Domains:
PF00046 - Homeodomain
PF19627 - Activity-dependent neuroprotector homeobox protein N-terminal

SCOP Domains:
46689 - Homeodomain-like
57667 - beta-beta-alpha zinc fingers
57850 - RING/U-box

ModBase Predicted Comparative 3D Structure on Q9H2P0
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0005507 copper ion binding
GO:0005515 protein binding
GO:0042277 peptide binding
GO:0046872 metal ion binding
GO:0048487 beta-tubulin binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007614 short-term memory
GO:0009743 response to carbohydrate
GO:0010035 response to inorganic substance
GO:0010629 negative regulation of gene expression
GO:0010835 regulation of protein ADP-ribosylation
GO:0010976 positive regulation of neuron projection development
GO:0030828 positive regulation of cGMP biosynthetic process
GO:0031668 cellular response to extracellular stimulus
GO:0032091 negative regulation of protein binding
GO:0032147 activation of protein kinase activity
GO:0033484 nitric oxide homeostasis
GO:0043524 negative regulation of neuron apoptotic process
GO:0044849 estrous cycle
GO:0045773 positive regulation of axon extension
GO:0050731 positive regulation of peptidyl-tyrosine phosphorylation
GO:0050805 negative regulation of synaptic transmission
GO:0051965 positive regulation of synapse assembly

Cellular Component:
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0030424 axon
GO:0030425 dendrite
GO:0043025 neuronal cell body


-  Descriptions from all associated GenBank mRNAs
  AF250860 - Homo sapiens activity-dependent neuroprotective protein mRNA, complete cds.
BC075794 - Homo sapiens activity-dependent neuroprotector homeobox, mRNA (cDNA clone MGC:87273 IMAGE:30342099), complete cds.
AK314734 - Homo sapiens cDNA, FLJ95596, highly similar to Homo sapiens activity-dependent neuroprotector (ADNP), mRNA.
JD410998 - Sequence 392022 from Patent EP1572962.
JD349979 - Sequence 331003 from Patent EP1572962.
JD234865 - Sequence 215889 from Patent EP1572962.
JD190407 - Sequence 171431 from Patent EP1572962.
JD563546 - Sequence 544570 from Patent EP1572962.
JD102386 - Sequence 83410 from Patent EP1572962.
JD373562 - Sequence 354586 from Patent EP1572962.
JD301950 - Sequence 282974 from Patent EP1572962.
JD243669 - Sequence 224693 from Patent EP1572962.
DQ600395 - Homo sapiens piRNA piR-38461, complete sequence.
BC015554 - Homo sapiens activity-dependent neuroprotector homeobox, mRNA (cDNA clone IMAGE:3848923), with apparent retained intron.
AL080163 - Homo sapiens mRNA; cDNA DKFZp586K2120 (from clone DKFZp586K2120).
AK074926 - Homo sapiens cDNA FLJ90445 fis, clone NT2RP3001170.
AB018327 - Homo sapiens mRNA for KIAA0784 protein, partial cds.
BC090933 - Homo sapiens activity-dependent neuroprotector homeobox, mRNA (cDNA clone MGC:104969 IMAGE:3066721), complete cds.
JD432992 - Sequence 414016 from Patent EP1572962.
JD297062 - Sequence 278086 from Patent EP1572962.
JD244561 - Sequence 225585 from Patent EP1572962.
JD048808 - Sequence 29832 from Patent EP1572962.
JD286485 - Sequence 267509 from Patent EP1572962.
JD276394 - Sequence 257418 from Patent EP1572962.
JD560052 - Sequence 541076 from Patent EP1572962.
JD354685 - Sequence 335709 from Patent EP1572962.
JD075970 - Sequence 56994 from Patent EP1572962.
DQ575899 - Homo sapiens piRNA piR-44011, complete sequence.
JD379335 - Sequence 360359 from Patent EP1572962.
JD224634 - Sequence 205658 from Patent EP1572962.
JD243714 - Sequence 224738 from Patent EP1572962.
JD394473 - Sequence 375497 from Patent EP1572962.
JD354269 - Sequence 335293 from Patent EP1572962.
JD271260 - Sequence 252284 from Patent EP1572962.
JD200332 - Sequence 181356 from Patent EP1572962.
JD129854 - Sequence 110878 from Patent EP1572962.
JD416030 - Sequence 397054 from Patent EP1572962.
JD407009 - Sequence 388033 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ADNP1, ADNP_HUMAN, E1P5Y2, ENST00000621696.1, ENST00000621696.2, ENST00000621696.3, ENST00000621696.4, KIAA0784, NM_001347511, O94881, Q5BKU2, Q9H2P0, Q9UG34, uc327tun.1, uc327tun.2
UCSC ID: ENST00000621696.5_7
RefSeq Accession: NM_001282531.3
Protein: Q9H2P0 (aka ADNP_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ADNP:
adnp-dis (ADNP-Related Disorder)

-  Gene Model Information
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.