ADNP2 ADNP homeobox 2 [Homo sapiens (human)] - Gene

Summary

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, Dec 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

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_000018.10 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

This study showed ADNP2 that deregulated in postmortem hippocampal samples from schizophrenia patients, but that now showed a significantly increased expression in lymphocytes from related patients.
Title: Autophagy has a key role in the pathophysiology of schizophrenia.
In the prefrontal cortex of schizophrenia patients the correlation between ADNP and ADNP2 mRNA levels was apparently higher than in the hippocampus (r=0.854, p<0.001), but did not reach a significant difference (p=0.25).
Title: Activity-dependent neuroprotective protein (ADNP) expression level is correlated with the expression of the sister protein ADNP2: deregulation in schizophrenia.

Submit: New GeneRIF Correction

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

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

D17S1639 (e-PCR)
- UniSTS:153696

RH65773 (e-PCR)
- UniSTS:30562

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)

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

NC_000018.10 Reference GRCh38.p14 Primary Assembly

Range

80109262..80140346

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
XM_047437350.1 → XP_047293306.1 activity-dependent neuroprotector homeobox protein 2 isoform X1
XM_047437351.1 → XP_047293307.1 activity-dependent neuroprotector homeobox protein 2 isoform X2
XM_047437352.1 → XP_047293308.1 activity-dependent neuroprotector homeobox protein 2 isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060942.1 Alternate T2T-CHM13v2.0

Range

80385719..80416803

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054318291.1 → XP_054174266.1 activity-dependent neuroprotector homeobox protein 2 isoform X1
XM_054318290.1 → XP_054174265.1 activity-dependent neuroprotector homeobox protein 2 isoform X1
XM_054318292.1 → XP_054174267.1 activity-dependent neuroprotector homeobox protein 2 isoform X2
XM_054318293.1 → XP_054174268.1 activity-dependent neuroprotector homeobox protein 2 isoform X2