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ADAM23 ADAM metallopeptidase domain 23 [ Homo sapiens (human) ]

Gene ID: 8745, updated on 11-Apr-2024

Summary

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Official Symbol
ADAM23provided by HGNC
Official Full Name
ADAM metallopeptidase domain 23provided by HGNC
Primary source
HGNC:HGNC:202
See related
Ensembl:ENSG00000114948 MIM:603710; AllianceGenome:HGNC:202
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
MDC3; MDC-3
Summary
This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. It is reported that inactivation of this gene is associated with tumorigenesis in human cancers. [provided by RefSeq, May 2013]
Expression
Biased expression in brain (RPKM 14.8), heart (RPKM 6.7) and 6 other tissues See more
Orthologs
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Genomic context

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Location:
2q33.3
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (206443532..206621127)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (206925637..207103230)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (207308256..207485851)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:207280066-207280566 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 51 Neighboring gene ACER2 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12269 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:207448893-207450092 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:207479308-207480507 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:207506401-207506982 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:207506983-207507562 Neighboring gene family with sequence similarity 237 member A Neighboring gene dystrotelin Neighboring gene VPS26C pseudogene 1

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. Endocytosis of the non-catalytic ADAM23: Recycling and long half-life properties. Souza ILM, et al. Exp Cell Res, 2021 Jan 15. PMID 33296662
  2. A disintegrin and metalloprotease 23 hypermethylation predicts decreased disease-free survival in low-risk breast cancer patients. Zmetakova I, et al. Cancer Sci, 2019 May. PMID 30815959, Free PMC Article
  3. Low levels of ADAM23 expression in epithelial ovarian cancer are associated with poor survival. Ma R, et al. Pathol Res Pract, 2018 Aug. PMID 29921495
  4. ADAM23 promotes neuronal differentiation of human neural progenitor cells. Markus-Koch A, et al. Cell Mol Biol Lett, 2017. PMID 28828010, Free PMC Article
  5. ADAM23, a Gene Related to LGI1, Is Not Linked to Autosomal Dominant Lateral Temporal Epilepsy. Rigon L, et al. Epilepsy Res Treat, 2011. PMID 22937229, Free PMC Article

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Endocytosis of the non-catalytic ADAM23: Recycling and long half-life properties.
    Title: Endocytosis of the non-catalytic ADAM23: Recycling and long half-life properties.
  2. Results indicate that ADAM23 is likely involved in breast cancer (BC) progression and dissemination of mesenchymal circulating tumor cells. ADAM23 methylation has the potential to function as a novel prognostic marker.
    Title: A disintegrin and metalloprotease 23 hypermethylation predicts decreased disease-free survival in low-risk breast cancer patients.
  3. The relationships between the decreased methylation levels of the SNAI2 and ADAM23 genes and cancer de-differentiation and haematogenous dissemination, respectively, indicate novel functions of those genes in the invasive processes.
    Title: Decreased methylation in the SNAI2 and ADAM23 genes associated with de-differentiation and haematogenous dissemination in breast cancers.
  4. Our results demonstrate that ADAM23 expression is likely involved in the progression of epithelial ovarian cancer
    Title: Low levels of ADAM23 expression in epithelial ovarian cancer are associated with poor survival.
  5. ADAM23 regulates neuronal differentiation by triggering specific signaling pathways during human neural progenitor cells differentiation.
    Title: ADAM23 promotes neuronal differentiation of human neural progenitor cells.
  6. these results support the existence of a second mechanism, alternative to inhibition of protein secretion, by which ADLTE-causing LGI1 mutations exert their loss-of-function effect extracellularly, and suggest that interactions of LGI1 with both ADAM22 and ADAM23 play an important role in the molecular mechanisms leading to utosomal dominant lateral temporal epilepsy
    Title: Secretion-Positive LGI1 Mutations Linked to Lateral Temporal Epilepsy Impair Binding to ADAM22 and ADAM23 Receptors.
  7. Our data provide evidence that ADAM23 plays a role in suppression of cancer cell progression through interaction with aVb3 integrin, and suggest that downregulation of ADAM23 in SP cells may contribute toward providing a cancer stem cell phenotype
    Title: ADAM23 is downregulated in side population and suppresses lung metastasis of lung carcinoma cells.
  8. High ADAM23 gene methylation is associated with gastric tumor aggressiveness.
    Title: Epigenetic clustering of gastric carcinomas based on DNA methylation profiles at the precancerous stage: its correlation with tumor aggressiveness and patient outcome.
  9. quantification of CXCL12 and ADAM23 methylation could be useful for the prediction of advanced stage of BC
    Title: CXCL12 and ADAM23 hypermethylation are associated with advanced breast cancers.
  10. Intratumoral heterogeneity of ADAM23 promotes tumor growth and metastasis through LGI4 and nitric oxide signals.
    Title: Intratumoral heterogeneity of ADAM23 promotes tumor growth and metastasis through LGI4 and nitric oxide signals.
Submit: New GeneRIF Correction See all GeneRIFs (19)

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

EBI GWAS Catalog

Description
Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
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)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat downregulates the expression of ADAM metallopeptidase domain 23 (ADAM23) in human primary T cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ34481

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables integrin binding TAS
Traceable Author Statement
more info
 PubMed 
enables metalloendopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables metallopeptidase activity TAS
Traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to leukemia inhibitory factor IEA
Inferred from Electronic Annotation
more info
  
involved_in central nervous system development TAS
Traceable Author Statement
more info
 PubMed 
involved_in proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
is_active_in presynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in presynaptic membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
disintegrin and metalloproteinase domain-containing protein 23
Names
metalloproteinase-like, disintegrin-like, and cysteine-rich protein 3

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_029874.2 RefSeqGene

    Range
    4889..182484
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001410985.1 → NP_001397914.1  disintegrin and metalloproteinase domain-containing protein 23 isoform 2 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: Variants 1 and 2 encode isoforms that are the same length, but have distinct protein sequences.
    Source sequence(s)
    AC009225, AC010731, AC079136
    Consensus CDS
    CCDS92936.1
    UniProtKB/TrEMBL
    E7EWD3
    Related
    ENSP00000363536.3, ENST00000374415.7

  2. NM_003812.4 → NP_003803.1  disintegrin and metalloproteinase domain-containing protein 23 isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_003803.1

    Status: REVIEWED

    Description
    Transcript Variant: Variants 1 and 2 encode isoforms that are the same length, but have distinct protein sequences.
    Source sequence(s)
    AB009672, AC009225, AC010731, CN399765, R43984
    Consensus CDS
    CCDS2369.1
    UniProtKB/Swiss-Prot
    A2RU59, O75077
    Related
    ENSP00000264377.3, ENST00000264377.8
    Conserved Domains (4) summary
    smart00050
    Location:511 → 585
    DISIN; Homologues of snake disintegrins
    smart00608
    Location:587 → 726
    ACR; ADAM Cysteine-Rich Domain
    pfam01421
    Location:299 → 496
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:127 → 249
    Pep_M12B_propep; Reprolysin family propeptide

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    206443532..206621127
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005246932.4 → XP_005246989.1  disintegrin and metalloproteinase domain-containing protein 23 isoform X1

    See identical proteins and their annotated locations for XP_005246989.1

    UniProtKB/Swiss-Prot
    O75077
    Conserved Domains (4) summary
    smart00050
    Location:511 → 585
    DISIN; Homologues of snake disintegrins
    smart00608
    Location:587 → 726
    ACR; ADAM Cysteine-Rich Domain
    pfam01421
    Location:299 → 496
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:127 → 249
    Pep_M12B_propep; Reprolysin family propeptide

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    206925637..207103230
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054344339.1 → XP_054200314.1  disintegrin and metalloproteinase domain-containing protein 23 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75077.1 GenPept UniProtKB/Swiss-Prot:O75077

Gene LinkOut

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