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    ADNP activity dependent neuroprotector homeobox [ Homo sapiens (human) ]

    Gene ID: 23394, updated on 19-Feb-2024

    Summary

    Official Symbol
    ADNPprovided by HGNC
    Official Full Name
    activity dependent neuroprotector homeoboxprovided by HGNC
    Primary source
    HGNC:HGNC:15766
    See related
    Ensembl:ENSG00000101126 MIM:611386; AllianceGenome:HGNC:15766
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ADNP1; HVDAS; MRD28
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 11.8), ovary (RPKM 8.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ADNP in Genome Data Viewer
    Location:
    20q13.13
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (50888918..50931437, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (52659514..52702036, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (49505455..49547974, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene breast carcinoma amplified sequence 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18106 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49464983-49465591 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49465592-49466199 Neighboring gene TMSB4X pseudogene 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49477383-49477904 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:49479088-49479680 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49480032-49480778 Neighboring gene uncharacterized LOC124904929 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:49486444-49487157 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:49487158-49487870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:49488585-49489297 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49491439-49492150 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49492678-49493258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49495917-49496418 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49496419-49496918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13031 Neighboring gene proteasome 26S subunit, non-ATPase, 10 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49541986-49542486 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49542487-49542987 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13032 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13033 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:49546803-49547593 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13036 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18107 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:49548232-49548419 Neighboring gene ADNP antisense RNA 1 Neighboring gene dolichyl-phosphate mannosyltransferase subunit 1, catalytic Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18108 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:49575528-49576138 Neighboring gene molybdenum cofactor synthesis 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2017-11-22)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2017-11-22)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0784

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables beta-catenin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables beta-tubulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables copper ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables peptide 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 cGMP-mediated signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to extracellular stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in estrous cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular nitric oxide homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of axon extension IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of neuron projection development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of peptidyl-tyrosine phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of synapse assembly IEA
    Inferred from Electronic Annotation
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to carbohydrate IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to inorganic substance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in short-term memory IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of RNA polymerase II transcription regulator complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
     
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    activity-dependent neuroprotector homeobox protein
    Names
    ADNP homeobox 1
    activity-dependent neuroprotective protein
    activity-dependent neuroprotector

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_034200.2 RefSeqGene

      Range
      5000..47519
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001282531.3NP_001269460.1  activity-dependent neuroprotector homeobox protein

      See identical proteins and their annotated locations for NP_001269460.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript. All five variants encode the same protein.
      Source sequence(s)
      AL034553
      Consensus CDS
      CCDS13433.1
      UniProtKB/Swiss-Prot
      E1P5Y2, O94881, Q5BKU2, Q9H2P0, Q9UG34
      UniProtKB/TrEMBL
      B2RBM8
      Related
      ENSP00000483881.1, ENST00000621696.5
      Conserved Domains (2) summary
      smart00389
      Location:768811
      HOX; Homeodomain
      sd00020
      Location:491510
      ZF_C2H2; C2H2 Zn finger [structural motif]
    2. NM_001282532.2NP_001269461.1  activity-dependent neuroprotector homeobox protein

      See identical proteins and their annotated locations for NP_001269461.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 3. All five variants encode the same protein.
      Source sequence(s)
      AL034553
      Consensus CDS
      CCDS13433.1
      UniProtKB/Swiss-Prot
      E1P5Y2, O94881, Q5BKU2, Q9H2P0, Q9UG34
      UniProtKB/TrEMBL
      B2RBM8
      Related
      ENSP00000342905.3, ENST00000349014.8
      Conserved Domains (2) summary
      smart00389
      Location:768811
      HOX; Homeodomain
      sd00020
      Location:491510
      ZF_C2H2; C2H2 Zn finger [structural motif]
    3. NM_001347511.2NP_001334440.1  activity-dependent neuroprotector homeobox protein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 3. All five variants encode the same protein.
      Source sequence(s)
      AL034553
      Consensus CDS
      CCDS13433.1
      UniProtKB/Swiss-Prot
      E1P5Y2, O94881, Q5BKU2, Q9H2P0, Q9UG34
      UniProtKB/TrEMBL
      B2RBM8
    4. NM_015339.5NP_056154.1  activity-dependent neuroprotector homeobox protein

      See identical proteins and their annotated locations for NP_056154.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 3. All five variants encode the same protein.
      Source sequence(s)
      AL034553
      Consensus CDS
      CCDS13433.1
      UniProtKB/Swiss-Prot
      E1P5Y2, O94881, Q5BKU2, Q9H2P0, Q9UG34
      UniProtKB/TrEMBL
      B2RBM8
      Related
      ENSP00000379346.3, ENST00000396029.8
      Conserved Domains (2) summary
      smart00389
      Location:768811
      HOX; Homeodomain
      sd00020
      Location:491510
      ZF_C2H2; C2H2 Zn finger [structural motif]
    5. NM_181442.4NP_852107.1  activity-dependent neuroprotector homeobox protein

      See identical proteins and their annotated locations for NP_852107.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 3. All five variants encode the same protein.
      Source sequence(s)
      AL034553
      Consensus CDS
      CCDS13433.1
      UniProtKB/Swiss-Prot
      E1P5Y2, O94881, Q5BKU2, Q9H2P0, Q9UG34
      UniProtKB/TrEMBL
      B2RBM8
      Related
      ENSP00000379349.2, ENST00000396032.8
      Conserved Domains (2) summary
      smart00389
      Location:768811
      HOX; Homeodomain
      sd00020
      Location:491510
      ZF_C2H2; C2H2 Zn finger [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      50888918..50931437 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047440078.1XP_047296034.1  activity-dependent neuroprotector homeobox protein isoform X4

      UniProtKB/TrEMBL
      A0A2R8Y6X0
      Related
      ENSP00000495540.1, ENST00000645081.1
    2. XM_047440074.1XP_047296030.1  activity-dependent neuroprotector homeobox protein isoform X1

      UniProtKB/TrEMBL
      A0A669KBJ7, B2RBM8
      Related
      ENSP00000501294.1, ENST00000673732.1
    3. XM_047440077.1XP_047296033.1  activity-dependent neuroprotector homeobox protein isoform X3

      UniProtKB/Swiss-Prot
      E1P5Y2, O94881, Q5BKU2, Q9H2P0, Q9UG34
      UniProtKB/TrEMBL
      B2RBM8
    4. XM_047440075.1XP_047296031.1  activity-dependent neuroprotector homeobox protein isoform X3

      UniProtKB/Swiss-Prot
      E1P5Y2, O94881, Q5BKU2, Q9H2P0, Q9UG34
      UniProtKB/TrEMBL
      B2RBM8
    5. XM_047440076.1XP_047296032.1  activity-dependent neuroprotector homeobox protein isoform X3

      UniProtKB/Swiss-Prot
      E1P5Y2, O94881, Q5BKU2, Q9H2P0, Q9UG34
      UniProtKB/TrEMBL
      B2RBM8
    6. XM_011528747.3XP_011527049.2  activity-dependent neuroprotector homeobox protein isoform X1

      UniProtKB/TrEMBL
      A0A669KBJ7, B2RBM8
    7. XM_011528748.3XP_011527050.1  activity-dependent neuroprotector homeobox protein isoform X2

      UniProtKB/TrEMBL
      B2RBM8
      Conserved Domains (2) summary
      smart00389
      Location:777820
      HOX; Homeodomain
      sd00020
      Location:500519
      ZF_C2H2; C2H2 Zn finger [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      52659514..52702036 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323298.1XP_054179273.1  activity-dependent neuroprotector homeobox protein isoform X4

      UniProtKB/TrEMBL
      A0A2R8Y6X0
    2. XM_054323293.1XP_054179268.1  activity-dependent neuroprotector homeobox protein isoform X1

      UniProtKB/TrEMBL
      A0A669KBJ7, B2RBM8
    3. XM_054323297.1XP_054179272.1  activity-dependent neuroprotector homeobox protein isoform X3

      UniProtKB/Swiss-Prot
      E1P5Y2, O94881, Q5BKU2, Q9H2P0, Q9UG34
      UniProtKB/TrEMBL
      B2RBM8
    4. XM_054323295.1XP_054179270.1  activity-dependent neuroprotector homeobox protein isoform X3

      UniProtKB/Swiss-Prot
      E1P5Y2, O94881, Q5BKU2, Q9H2P0, Q9UG34
      UniProtKB/TrEMBL
      B2RBM8
    5. XM_054323296.1XP_054179271.1  activity-dependent neuroprotector homeobox protein isoform X3

      UniProtKB/Swiss-Prot
      E1P5Y2, O94881, Q5BKU2, Q9H2P0, Q9UG34
      UniProtKB/TrEMBL
      B2RBM8
    6. XM_054323292.1XP_054179267.1  activity-dependent neuroprotector homeobox protein isoform X1

      UniProtKB/TrEMBL
      A0A669KBJ7, B2RBM8
    7. XM_054323294.1XP_054179269.1  activity-dependent neuroprotector homeobox protein isoform X2

      UniProtKB/TrEMBL
      B2RBM8