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    ADNP2 ADNP homeobox 2 [ Homo sapiens (human) ]

    Gene ID: 22850, updated on 14-Nov-2024

    Summary

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    Official Symbol
    ADNP2provided by HGNC
    Official Full Name
    ADNP homeobox 2provided by HGNC
    Primary source
    HGNC:HGNC:23803
    See related
    Ensembl:ENSG00000101544 MIM:617422; AllianceGenome:HGNC:23803
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ZNF508
    Summary
    Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific. Predicted to be involved in nervous system development and regulation of gene expression. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in bone marrow (RPKM 13.5), testis (RPKM 13.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ADNP2 in Genome Data Viewer
    Location:
    18q23
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (80109262..80140346)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (80385719..80416803)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (77867146..77898229)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9590 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:77808538-77809737 Neighboring gene ribosome binding factor A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:77825575-77826076 Neighboring gene RBFA downstream neighbor Neighboring gene solute carrier family 25 member 6 pseudogene 4 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:77861530-77862273 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:77865569-77866070 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:77866897-77867398 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9592 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr18:77876558-77877483 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9593 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13549 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13550 Neighboring gene PARD6G antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9594 Neighboring gene par-6 family cell polarity regulator gamma Neighboring gene uncharacterized LOC124904337

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Activity-dependent neuroprotective protein (ADNP) expression level is correlated with the expression of the sister protein ADNP2: deregulation in schizophrenia. Dresner E, et al. Eur Neuropsychopharmacol, 2011 May. PMID 20598862
    2. Autophagy has a key role in the pathophysiology of schizophrenia. Merenlender-Wagner A, et al. Mol Psychiatry, 2015 Feb. PMID 24365867, Free PMC Article
    3. Silencing of the ADNP-family member, ADNP2, results in changes in cellular viability under oxidative stress. Kushnir M, et al. J Neurochem, 2008 Apr. PMID 18179478
    4. Analysis of the human HP1 interactome reveals novel binding partners. Rosnoblet C, et al. Biochem Biophys Res Commun, 2011 Sep 23. PMID 21888893
    5. Cross-linking mass spectrometry reveals the structural topology of peripheral NuRD subunits relative to the core complex. Spruijt CG, et al. FEBS J, 2021 May. PMID 33283408, Free PMC Article

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0863

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in nervous system development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of gene expression IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    activity-dependent neuroprotector homeobox protein 2
    Names
    ADNP homeobox protein 2
    zinc finger protein 508

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_014913.4 → NP_055728.1  activity-dependent neuroprotector homeobox protein 2

      See identical proteins and their annotated locations for NP_055728.1

      Status: VALIDATED

      Source sequence(s)
      AC139100, KC877689
      Consensus CDS
      CCDS32853.1
      UniProtKB/Swiss-Prot
      A8K951, O94943, Q6IQ32, Q9H9P3
      Related
      ENSP00000262198.3, ENST00000262198.9
      Conserved Domains (3) summary
      smart00389
      Location:1043 → 1096
      HOX; Homeodomain
      TIGR03437
      Location:465 → 667
      Soli_cterm; Solibacter uncharacterized C-terminal domain
      pfam07793
      Location:238 → 341
      DUF1631; Protein of unknown function (DUF1631)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      80109262..80140346
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525883.3 → XP_011524185.1  activity-dependent neuroprotector homeobox protein 2 isoform X1

      Conserved Domains (3) summary
      smart00389
      Location:1021 → 1074
      HOX; Homeodomain
      TIGR03437
      Location:443 → 645
      Soli_cterm; Solibacter uncharacterized C-terminal domain
      pfam07793
      Location:216 → 319
      DUF1631; Protein of unknown function (DUF1631)

    2. XM_047437350.1 → XP_047293306.1  activity-dependent neuroprotector homeobox protein 2 isoform X1

    3. XM_047437351.1 → XP_047293307.1  activity-dependent neuroprotector homeobox protein 2 isoform X2

    4. XM_047437352.1 → XP_047293308.1  activity-dependent neuroprotector homeobox protein 2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      80385719..80416803
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318291.1 → XP_054174266.1  activity-dependent neuroprotector homeobox protein 2 isoform X1

    2. XM_054318290.1 → XP_054174265.1  activity-dependent neuroprotector homeobox protein 2 isoform X1

    3. XM_054318292.1 → XP_054174267.1  activity-dependent neuroprotector homeobox protein 2 isoform X2

    4. XM_054318293.1 → XP_054174268.1  activity-dependent neuroprotector homeobox protein 2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6IQ32.1 GenPept UniProtKB/Swiss-Prot:Q6IQ32

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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