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

    Gene ID: 8745, updated on 17-Jun-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
    mouse all
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    Genomic context

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    See ADAM23 in Genome Data Viewer
    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
    		  

    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

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