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

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: mouse all
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Genomic context

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_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
[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].
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.
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.
Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism.
Title: Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism.
Modulatory activity of ADNP on the hypoxiainduced angiogenic process in glioblastoma.
Title: Modulatory activity of ADNP on the hypoxia‑induced angiogenic process in glioblastoma.
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.
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

Associated conditions

Description	Tests
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder MedGen: C4014538 OMIM: 615873 GeneReviews: ADNP-Related Disorder	not available

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 EBI GWAS CatalogPubMed

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

D1S1984E (e-PCR)
- UniSTS:151309

D20S560E (e-PCR)
- UniSTS:52749

D20S772 (e-PCR)
- UniSTS:8216

RH69297 (e-PCR)
- UniSTS:54836

SHGC-57240 (e-PCR)
- UniSTS:43343

Z94544 (e-PCR)
- UniSTS:13411

RH11804 (e-PCR)
- UniSTS:29802

RH68738 (e-PCR)
- UniSTS:76417

D20S953 (e-PCR)
- UniSTS:50575

D20S689 (e-PCR)
- UniSTS:153552

SHGC-36586 (e-PCR)
- UniSTS:12497

RH18366 (e-PCR)
- UniSTS:59374

SHGC-52475 (e-PCR)
- UniSTS:41722

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

NG_034200.2 RefSeqGene

Range

5000..47519

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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]
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]
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
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]
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

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

50888918..50931437 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0A2R8Y6X0

Related

ENSP00000495540.1, ENST00000645081.1
XM_047440074.1 → XP_047296030.1 activity-dependent neuroprotector homeobox protein isoform X1

UniProtKB/TrEMBL

A0A669KBJ7

Related

ENSP00000501294.1, ENST00000673732.1
XM_047440077.1 → XP_047296033.1 activity-dependent neuroprotector homeobox protein isoform X3

UniProtKB/Swiss-Prot

E1P5Y2, O94881, Q5BKU2, Q9H2P0, Q9UG34
XM_047440075.1 → XP_047296031.1 activity-dependent neuroprotector homeobox protein isoform X3

UniProtKB/Swiss-Prot

E1P5Y2, O94881, Q5BKU2, Q9H2P0, Q9UG34
XM_047440076.1 → XP_047296032.1 activity-dependent neuroprotector homeobox protein isoform X3

UniProtKB/Swiss-Prot

E1P5Y2, O94881, Q5BKU2, Q9H2P0, Q9UG34
XM_011528747.3 → XP_011527049.2 activity-dependent neuroprotector homeobox protein isoform X1

UniProtKB/TrEMBL

A0A669KBJ7
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

NC_060944.1 Alternate T2T-CHM13v2.0

Range

52659514..52702036 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0A2R8Y6X0
XM_054323293.1 → XP_054179268.1 activity-dependent neuroprotector homeobox protein isoform X1

UniProtKB/TrEMBL

A0A669KBJ7
XM_054323297.1 → XP_054179272.1 activity-dependent neuroprotector homeobox protein isoform X3

UniProtKB/Swiss-Prot

E1P5Y2, O94881, Q5BKU2, Q9H2P0, Q9UG34
XM_054323295.1 → XP_054179270.1 activity-dependent neuroprotector homeobox protein isoform X3

UniProtKB/Swiss-Prot

E1P5Y2, O94881, Q5BKU2, Q9H2P0, Q9UG34
XM_054323296.1 → XP_054179271.1 activity-dependent neuroprotector homeobox protein isoform X3

UniProtKB/Swiss-Prot

E1P5Y2, O94881, Q5BKU2, Q9H2P0, Q9UG34
XM_054323292.1 → XP_054179267.1 activity-dependent neuroprotector homeobox protein isoform X1

UniProtKB/TrEMBL

A0A669KBJ7
XM_054323294.1 → XP_054179269.1 activity-dependent neuroprotector homeobox protein isoform X2