Aliases for ADNP2 Gene

Aliases for ADNP2 Gene

  • ADNP Homeobox 2 2 3 5
  • Zinc Finger Protein 508 2 3 4
  • Activity-Dependent Neuroprotector Homeobox Protein 2 3 4
  • ADNP Homeobox Protein 2 3 4
  • KIAA0863 2 4
  • ZNF508 3 4
  • ADNP2 5

External Ids for ADNP2 Gene

Previous HGNC Symbols for ADNP2 Gene

  • ZNF508

Previous GeneCards Identifiers for ADNP2 Gene

  • GC18P075968
  • GC18P077866
  • GC18P074488

Summaries for ADNP2 Gene

GeneCards Summary for ADNP2 Gene

ADNP2 (ADNP Homeobox 2) is a Protein Coding gene. Diseases associated with ADNP2 include Helsmoortel-Van Der Aa Syndrome and Retinitis Pigmentosa 58. An important paralog of this gene is ADNP.

UniProtKB/Swiss-Prot Summary for ADNP2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ADNP2 Gene

Genomics for ADNP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ADNP2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADNP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ADNP2

Top Transcription factor binding sites by QIAGEN in the ADNP2 gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • CBF-C
  • CP1A
  • CP1C
  • LCR-F1
  • NF-Y
  • Pax-4a
  • S8

Genomic Locations for ADNP2 Gene

Genomic Locations for ADNP2 Gene
chr18:80,109,251-80,147,523
(GRCh38/hg38)
Size:
38,273 bases
Orientation:
Plus strand
chr18:77,866,915-77,905,406
(GRCh37/hg19)
Size:
38,492 bases
Orientation:
Plus strand

Genomic View for ADNP2 Gene

Genes around ADNP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADNP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADNP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADNP2 Gene

Proteins for ADNP2 Gene

  • Protein details for ADNP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6IQ32-ADNP2_HUMAN
    Recommended name:
    Activity-dependent neuroprotector homeobox protein 2
    Protein Accession:
    Q6IQ32
    Secondary Accessions:
    • A8K951
    • O94943
    • Q9H9P3

    Protein attributes for ADNP2 Gene

    Size:
    1131 amino acids
    Molecular mass:
    122833 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA74886.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB14180.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for ADNP2 Gene

Post-translational modifications for ADNP2 Gene

  • Ubiquitination at Lys872
  • Modification sites at PhosphoSitePlus

Other Protein References for ADNP2 Gene

No data available for DME Specific Peptides for ADNP2 Gene

Domains & Families for ADNP2 Gene

Gene Families for ADNP2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ADNP2 Gene

Suggested Antigen Peptide Sequences for ADNP2 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein 508 (ADNP2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6IQ32

UniProtKB/Swiss-Prot:

ADNP2_HUMAN :
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with ADNP2: view

Function for ADNP2 Gene

Molecular function for ADNP2 Gene

UniProtKB/Swiss-Prot Function:
May be involved in transcriptional regulation.

Phenotypes From GWAS Catalog for ADNP2 Gene

Gene Ontology (GO) - Molecular Function for ADNP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0003674 molecular_function ND --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 21888893
genes like me logo Genes that share ontologies with ADNP2: view
genes like me logo Genes that share phenotypes with ADNP2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADNP2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ADNP2 Gene

Localization for ADNP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADNP2 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 ADNP2 gene
Compartment Confidence
nucleus 4
mitochondrion 2
cytosol 2
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ADNP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005575 cellular_component ND --
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with ADNP2: view

Pathways & Interactions for ADNP2 Gene

PathCards logo

SuperPathways for ADNP2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ADNP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0030182 neuron differentiation ISS --
GO:0030307 positive regulation of cell growth ISS --
GO:0034599 cellular response to oxidative stress ISS --
GO:0060548 negative regulation of cell death ISS --
genes like me logo Genes that share ontologies with ADNP2: view

No data available for Pathways by source and SIGNOR curated interactions for ADNP2 Gene

Drugs & Compounds for ADNP2 Gene

No Compound Related Data Available

Transcripts for ADNP2 Gene

mRNA/cDNA for ADNP2 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
5 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 ADNP2

Alternative Splicing Database (ASD) splice patterns (SP) for ADNP2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c
SP1:
SP2: - -
SP3: -

Relevant External Links for ADNP2 Gene

GeneLoc Exon Structure for
ADNP2

Expression for ADNP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ADNP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ADNP2 Gene

This gene is overexpressed in Pancreatic juice (66.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ADNP2 Gene



Protein tissue co-expression partners for ADNP2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ADNP2

SOURCE GeneReport for Unigene cluster for ADNP2 Gene:

Hs.131915

Evidence on tissue expression from TISSUES for ADNP2 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with ADNP2: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ADNP2 Gene

Orthologs for ADNP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ADNP2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ADNP2 30 31
  • 99.64 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ADNP2 30 31
  • 85.52 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ADNP2 30 31
  • 84.25 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Adnp2 30 17 31
  • 79.79 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Adnp2 30
  • 79.1 (n)
Oppossum
(Monodelphis domestica)
Mammalia ADNP2 31
  • 70 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ADNP2 30 31
  • 66.76 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ADNP2 31
  • 50 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia adnp2 30
  • 53.3 (n)
Str.12157 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.17180 30
Zebrafish
(Danio rerio)
Actinopterygii adnp2b 31
  • 33 (a)
OneToMany
adnp2a 31
  • 31 (a)
OneToMany
Species where no ortholog for ADNP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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 ADNP2 Gene

ENSEMBL:
Gene Tree for ADNP2 (if available)
TreeFam:
Gene Tree for ADNP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ADNP2: view image

Paralogs for ADNP2 Gene

Paralogs for ADNP2 Gene

(1) SIMAP similar genes for ADNP2 Gene using alignment to 5 proteins:

  • ADNP2_HUMAN
  • H0YLN6_HUMAN
  • H0YM09_HUMAN
  • K7EPG1_HUMAN
  • K7ERT3_HUMAN
genes like me logo Genes that share paralogs with ADNP2: view

Variants for ADNP2 Gene

Additional dbSNP identifiers (rs#s) for ADNP2 Gene

Structural Variations from Database of Genomic Variants (DGV) for ADNP2 Gene

Variant ID Type Subtype PubMed ID
dgv3413n100 CNV gain 25217958
dgv3414n100 CNV gain 25217958
esv275287 CNV gain+loss 21479260
esv3643326 CNV loss 21293372
esv3643330 CNV loss 21293372
esv3643331 CNV gain 21293372
esv3643332 CNV loss 21293372
esv3643333 CNV gain 21293372
nsv1061450 CNV gain 25217958
nsv1062512 CNV gain 25217958
nsv1065902 CNV gain 25217958
nsv1121958 CNV deletion 24896259
nsv1160552 CNV duplication 26073780
nsv428359 CNV gain 18775914
nsv458317 CNV gain 19166990
nsv577958 CNV gain 21841781
nsv577970 CNV gain 21841781
nsv828347 CNV gain 20364138

Variation tolerance for ADNP2 Gene

Residual Variation Intolerance Score: 7.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.71; 46.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADNP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADNP2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ADNP2 Gene

Disorders for ADNP2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ADNP2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
helsmoortel-van der aa syndrome
  • hvdas
retinitis pigmentosa 58
  • rp58
autosomal dominant non-syndromic intellectual disability
  • autosomal dominant mental retardation
- elite association - COSMIC cancer census association via MalaCards
Search ADNP2 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with ADNP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ADNP2 Gene

Publications for ADNP2 Gene

  1. Silencing of the ADNP-family member, ADNP2, results in changes in cellular viability under oxidative stress. (PMID: 18179478) Kushnir M … Gozes I (Journal of neurochemistry 2008) 2 3
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10048485) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for ADNP2 Gene

Sources for ADNP2 Gene