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

Gene ID: 23394, updated on 10-Dec-2024

Summary

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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
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Genomic context

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See ADNP in Genome Data Viewer
Location:
20q13.13
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (50888918..50931437, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (52659514..52702036, complement)
RS_2024_09 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Modulatory activity of ADNP on the hypoxia‑induced angiogenic process in glioblastoma. D'Amico AG, et al. Int J Oncol, 2023 Jan. PMID 36484392
  2. Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children. Gozes I, et al. Transl Psychiatry, 2017 Feb 21. PMID 28221363, Free PMC Article
  3. ADNP Is a Therapeutically Inducible Repressor of WNT Signaling in Colorectal Cancer. Blaj C, et al. Clin Cancer Res, 2017 Jun 1. PMID 27903678
  4. Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene. Takenouchi T, et al. Am J Med Genet A, 2017 Jun. PMID 28407407
  5. ADNP encoding a transcription factor interacting with BAF complexes exhibits frameshift mutations in gastric and colorectal cancers. Jo YS, et al. Scand J Gastroenterol, 2016 Oct. PMID 27308845

See all (153) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions.
    Title: Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions.
  2. Longitudinal Genotype-Phenotype (Vineland Questionnaire) Characterization of 15 ADNP Syndrome Cases Highlights Mutated Protein Length and Structural Characteristics Correlation with Communicative Abilities Accentuated in Males.
    Title: Longitudinal Genotype-Phenotype (Vineland Questionnaire) Characterization of 15 ADNP Syndrome Cases Highlights Mutated Protein Length and Structural Characteristics Correlation with Communicative Abilities Accentuated in Males.
  3. Clinical impact and in vitro characterization of ADNP variants in pediatric patients.
    Title: Clinical impact and in vitro characterization of ADNP variants in pediatric patients.
  4. [Helsmoortel-Van der Aa syndrome due to hotspot mutation of ADNP gene and a literature review].
    Title: [Helsmoortel-Van der Aa syndrome due to hotspot mutation of ADNP gene and a literature review].
  5. ADNP is associated with immune infiltration and radiosensitivity in hepatocellular carcinoma for predicting the prognosis.
    Title: ADNP is associated with immune infiltration and radiosensitivity in hepatocellular carcinoma for predicting the prognosis.
  6. A novel davunetide (NAPVSIPQQ to NAPVSIPQE) point mutation in activity-dependent neuroprotective protein (ADNP) causes a mild developmental syndrome.
    Title: A novel davunetide (NAPVSIPQQ to NAPVSIPQE) point mutation in activity-dependent neuroprotective protein (ADNP) causes a mild developmental syndrome.
  7. Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism.
    Title: Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism.
  8. Modulatory activity of ADNP on the hypoxiainduced angiogenic process in glioblastoma.
    Title: Modulatory activity of ADNP on the hypoxia‑induced angiogenic process in glioblastoma.
  9. Activity-Dependent Neuroprotective Protein (ADNP): An Overview of Its Role in the Eye.
    Title: Activity-Dependent Neuroprotective Protein (ADNP): An Overview of Its Role in the Eye.
  10. Distinct Impairments Characterizing Different ADNP Mutants Reveal Aberrant Cytoplasmic-Nuclear Crosstalk.
    Title: Distinct Impairments Characterizing Different ADNP Mutants Reveal Aberrant Cytoplasmic-Nuclear Crosstalk.
Submit: New GeneRIF Correction See all GeneRIFs (40)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

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

  • 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 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 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 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
  
located_in 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

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

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.

Genomic

  1. NG_034200.2 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001282531.3 → NP_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:768 → 811
    HOX; Homeodomain
    sd00020
    Location:491 → 510
    ZF_C2H2; C2H2 Zn finger [structural motif]

  2. NM_001282532.2 → NP_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:768 → 811
    HOX; Homeodomain
    sd00020
    Location:491 → 510
    ZF_C2H2; C2H2 Zn finger [structural motif]

  3. NM_001347511.2 → NP_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_015339.5 → NP_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:768 → 811
    HOX; Homeodomain
    sd00020
    Location:491 → 510
    ZF_C2H2; C2H2 Zn finger [structural motif]

  5. NM_181442.4 → NP_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:768 → 811
    HOX; Homeodomain
    sd00020
    Location:491 → 510
    ZF_C2H2; C2H2 Zn finger [structural motif]

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_000020.11 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    A0A2R8Y6X0
    Related
    ENSP00000495540.1, ENST00000645081.1

  2. XM_047440074.1 → XP_047296030.1  activity-dependent neuroprotector homeobox protein isoform X1

    UniProtKB/TrEMBL
    A0A669KBJ7, B2RBM8
    Related
    ENSP00000501294.1, ENST00000673732.1

  3. XM_047440077.1 → XP_047296033.1  activity-dependent neuroprotector homeobox protein isoform X3

    UniProtKB/Swiss-Prot
    E1P5Y2, O94881, Q5BKU2, Q9H2P0, Q9UG34
    UniProtKB/TrEMBL
    B2RBM8

  4. XM_047440075.1 → XP_047296031.1  activity-dependent neuroprotector homeobox protein isoform X3

    UniProtKB/Swiss-Prot
    E1P5Y2, O94881, Q5BKU2, Q9H2P0, Q9UG34
    UniProtKB/TrEMBL
    B2RBM8

  5. XM_047440076.1 → XP_047296032.1  activity-dependent neuroprotector homeobox protein isoform X3

    UniProtKB/Swiss-Prot
    E1P5Y2, O94881, Q5BKU2, Q9H2P0, Q9UG34
    UniProtKB/TrEMBL
    B2RBM8

  6. XM_011528747.3 → XP_011527049.2  activity-dependent neuroprotector homeobox protein isoform X1

    UniProtKB/TrEMBL
    A0A669KBJ7, B2RBM8

  7. XM_011528748.3 → XP_011527050.1  activity-dependent neuroprotector homeobox protein isoform X2

    UniProtKB/TrEMBL
    B2RBM8
    Conserved Domains (2) summary
    smart00389
    Location:777 → 820
    HOX; Homeodomain
    sd00020
    Location:500 → 519
    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_054323298.1 → XP_054179273.1  activity-dependent neuroprotector homeobox protein isoform X4

    UniProtKB/TrEMBL
    A0A2R8Y6X0

  2. XM_054323293.1 → XP_054179268.1  activity-dependent neuroprotector homeobox protein isoform X1

    UniProtKB/TrEMBL
    A0A669KBJ7, B2RBM8

  3. XM_054323297.1 → XP_054179272.1  activity-dependent neuroprotector homeobox protein isoform X3

    UniProtKB/Swiss-Prot
    E1P5Y2, O94881, Q5BKU2, Q9H2P0, Q9UG34
    UniProtKB/TrEMBL
    B2RBM8

  4. XM_054323295.1 → XP_054179270.1  activity-dependent neuroprotector homeobox protein isoform X3

    UniProtKB/Swiss-Prot
    E1P5Y2, O94881, Q5BKU2, Q9H2P0, Q9UG34
    UniProtKB/TrEMBL
    B2RBM8

  5. XM_054323296.1 → XP_054179271.1  activity-dependent neuroprotector homeobox protein isoform X3

    UniProtKB/Swiss-Prot
    E1P5Y2, O94881, Q5BKU2, Q9H2P0, Q9UG34
    UniProtKB/TrEMBL
    B2RBM8

  6. XM_054323292.1 → XP_054179267.1  activity-dependent neuroprotector homeobox protein isoform X1

    UniProtKB/TrEMBL
    A0A669KBJ7, B2RBM8

  7. XM_054323294.1 → XP_054179269.1  activity-dependent neuroprotector homeobox protein isoform X2

    UniProtKB/TrEMBL
    B2RBM8
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H2P0.1 GenPept UniProtKB/Swiss-Prot:Q9H2P0

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