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 report... See more...

Aliases for ADAM23 Gene

Aliases for ADAM23 Gene

  • ADAM Metallopeptidase Domain 23 2 3 5
  • MDC3 2 3 4
  • Metalloproteinase-Like, Disintegrin-Like, And Cysteine-Rich Protein 3 3 4
  • Disintegrin And Metalloproteinase Domain-Containing Protein 23 3 4
  • MDC-3 3 4
  • A Disintegrin And Metalloproteinase Domain 23 2
  • ADAM 23 4
  • ADAM23 5

External Ids for ADAM23 Gene

Previous GeneCards Identifiers for ADAM23 Gene

  • GC02P205525
  • GC02P206032
  • GC02P207272
  • GC02P207510
  • GC02P207133
  • GC02P207018
  • GC02P199158

Summaries for ADAM23 Gene

Entrez Gene Summary for ADAM23 Gene

  • 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]

GeneCards Summary for ADAM23 Gene

ADAM23 (ADAM Metallopeptidase Domain 23) is a Protein Coding gene. Diseases associated with ADAM23 include Laurence-Moon Syndrome and Epilepsy, Familial Temporal Lobe, 1. Among its related pathways are LGI-ADAM interactions and Developmental Biology. Gene Ontology (GO) annotations related to this gene include metalloendopeptidase activity and metallopeptidase activity. An important paralog of this gene is ADAM22.

UniProtKB/Swiss-Prot Summary for ADAM23 Gene

  • May play a role in cell-cell and cell-matrix interactions. This is a non-catalytic metalloprotease-like protein.

Gene Wiki entry for ADAM23 Gene

Additional gene information for ADAM23 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ADAM23 Gene

Genomics for ADAM23 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ADAM23 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J206443 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 610.3 +0.3 269 2.4 ZNF221 CTCF PRDM10 KDM1A ZIC2 POLR2A PATZ1 EZH2 ZNF600 ZNF341 ADAM23 ZDBF2 ENSG00000227946 piR-31311-017 FAM237A
GH02J207417 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.5 +973.3 973269 2.4 LEF1 JUND PKNOX1 SP1 BRD9 DPF2 SOX6 TCF12 EP300 THRA CREB1 ADAM23 piR-48759-175 lnc-CREB1-7 lnc-CREB1-8 ENSG00000223725 KLF7
GH02J206530 Enhancer 0.6 Ensembl 18.1 +87.8 87769 2.2 PRDM10 SCRT2 ZBTB20 RUNX3 ZSCAN5C ZBTB17 SCRT1 ZNF843 PRDM6 L3MBTL2 ADAM23 piR-31311-017 FAM237A
GH02J206368 Enhancer 0.6 Ensembl ENCODE 10.6 -74.4 -74415 2.2 PKNOX1 RAD21 ATF2 MTA2 ADAM23 GPR1 piR-56088-017 ACER2P1 ZDBF2
GH02J205729 Enhancer 1.4 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.5 -711.5 -711522 6.8 REST CEBPB SP1 JUND EZH2 NFE2 FOXA2 TGIF2 ATF3 NR3C1 ENSG00000225216 NRP2 ADAM23 HSALNG0021744 INO80D
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADAM23 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ADAM23

Top Transcription factor binding sites by QIAGEN in the ADAM23 gene promoter:
  • Brachyury
  • CREB
  • deltaCREB
  • E4BP4
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • USF-1
  • USF1

Genomic Locations for ADAM23 Gene

Genomic Locations for ADAM23 Gene
chr2:206,443,532-206,621,127
(GRCh38/hg38)
Size:
177,596 bases
Orientation:
Plus strand
chr2:207,308,263-207,485,851
(GRCh37/hg19)
Size:
177,589 bases
Orientation:
Plus strand

Genomic View for ADAM23 Gene

Genes around ADAM23 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADAM23 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADAM23 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADAM23 Gene

Proteins for ADAM23 Gene

  • Protein details for ADAM23 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75077-ADA23_HUMAN
    Recommended name:
    Disintegrin and metalloproteinase domain-containing protein 23
    Protein Accession:
    O75077
    Secondary Accessions:
    • A2RU59

    Protein attributes for ADAM23 Gene

    Size:
    832 amino acids
    Molecular mass:
    91926 Da
    Quaternary structure:
    • Can bind to LGI1 and LGI4 (By similarity). Ligand for integrin alpha-V/beta-3.

    Alternative splice isoforms for ADAM23 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADAM23 Gene

Post-translational modifications for ADAM23 Gene

  • Glycosylation at Asn76, Asn96, Asn100, Asn263, Asn547, Asn548, Asn664, and Asn732
  • Modification sites at PhosphoSitePlus

Other Protein References for ADAM23 Gene

No data available for DME Specific Peptides for ADAM23 Gene

Domains & Families for ADAM23 Gene

Gene Families for ADAM23 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ADAM23 Gene

Suggested Antigen Peptide Sequences for ADAM23 Gene

GenScript: Design optimal peptide antigens:
  • Metalloproteinase-like, disintegrin-like, and cysteine-rich protein 3 (ADA23_HUMAN)
  • Metalloproteinase-disintegrin (Q9UKK1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75077

UniProtKB/Swiss-Prot:

ADA23_HUMAN :
  • A conserved motif AVN[ED]CD within the disintegrin-like domain could be involved in the binding to the integrin receptor.
Domain:
  • A conserved motif AVN[ED]CD within the disintegrin-like domain could be involved in the binding to the integrin receptor.
genes like me logo Genes that share domains with ADAM23: view

Function for ADAM23 Gene

Molecular function for ADAM23 Gene

UniProtKB/Swiss-Prot Function:
May play a role in cell-cell and cell-matrix interactions. This is a non-catalytic metalloprotease-like protein.
GENATLAS Biochemistry:
a disintegrin and metalloprotease domain 23,membrane anchored cell surface adhesion protein,expressed in the brain

Phenotypes From GWAS Catalog for ADAM23 Gene

Gene Ontology (GO) - Molecular Function for ADAM23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IEA --
GO:0005178 integrin binding TAS 9693107
GO:0005515 protein binding IPI 20463223
GO:0008237 metallopeptidase activity IEA,TAS 9693107
genes like me logo Genes that share ontologies with ADAM23: view
genes like me logo Genes that share phenotypes with ADAM23: view

Animal Models for ADAM23 Gene

MGI Knock Outs for ADAM23:

Animal Model Products

  • Taconic Biosciences Mouse Models for ADAM23

CRISPR Products

miRNA for ADAM23 Gene

miRTarBase miRNAs that target ADAM23

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADAM23

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ADAM23 Gene

Localization for ADAM23 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADAM23 Gene

Cell membrane. Single-pass type I membrane protein.
[Isoform Gamma]: Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADAM23 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 2
cytosol 2
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ADAM23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 9693107
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ADAM23: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ADAM23 Gene

Pathways & Interactions for ADAM23 Gene

PathCards logo

SuperPathways for ADAM23 Gene

genes like me logo Genes that share pathways with ADAM23: view

Pathways by source for ADAM23 Gene

2 Reactome pathways for ADAM23 Gene

Gene Ontology (GO) - Biological Process for ADAM23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0007155 cell adhesion IEA --
GO:0007417 central nervous system development TAS 9693107
GO:1990830 cellular response to leukemia inhibitory factor IEA --
genes like me logo Genes that share ontologies with ADAM23: view

No data available for SIGNOR curated interactions for ADAM23 Gene

Drugs & Compounds for ADAM23 Gene

(1) Additional Compounds for ADAM23 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ADAM23: view

Transcripts for ADAM23 Gene

mRNA/cDNA for ADAM23 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADAM23

Alternative Splicing Database (ASD) splice patterns (SP) for ADAM23 Gene

No ASD Table

Relevant External Links for ADAM23 Gene

GeneLoc Exon Structure for
ADAM23

Expression for ADAM23 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ADAM23 Gene

mRNA differential expression in normal tissues according to GTEx for ADAM23 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x5.6), Brain - Nucleus accumbens (basal ganglia) (x4.5), Heart - Left Ventricle (x4.4), and Brain - Anterior cingulate cortex (BA24) (x4.1).

Protein differential expression in normal tissues from HIPED for ADAM23 Gene

This gene is overexpressed in Frontal cortex (50.8), Brain (8.8), and Spinal cord (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ADAM23 Gene



Protein tissue co-expression partners for ADAM23 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ADAM23

SOURCE GeneReport for Unigene cluster for ADAM23 Gene:

Hs.591643

mRNA Expression by UniProt/SwissProt for ADAM23 Gene:

O75077-ADA23_HUMAN
Tissue specificity: Highly expressed in the brain and weakly expressed in the heart. In the brain, expressed prominently in the amygdala, caudate nucleus, hypothalamus, thalamus, cerebral cortex and occipital pole.

Evidence on tissue expression from TISSUES for ADAM23 Gene

  • Nervous system(4.7)
  • Heart(2.2)
  • Muscle(2)
genes like me logo Genes that share expression patterns with ADAM23: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ADAM23 Gene

Orthologs for ADAM23 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADAM23 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ADAM23 30 31
  • 99.88 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ADAM23 30 31
  • 92.95 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ADAM23 30 31
  • 92.31 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ADAM23 31
  • 91 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Adam23 30 17 31
  • 88.77 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Adam23 30
  • 87.6 (n)
Oppossum
(Monodelphis domestica)
Mammalia ADAM23 31
  • 85 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ADAM23 30 31
  • 77.97 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ADAM23 31
  • 74 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia adam23 30
  • 71.57 (n)
Str.12051 30
Zebrafish
(Danio rerio)
Actinopterygii ADAM23 (2 of 2) 31
  • 67 (a)
OneToMany
wu:fj40f01 30
  • 65.73 (n)
adam23a 31
  • 63 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta mmd 31 32
  • 16 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea adm-1 32
  • 30 (a)
unc-71 31
  • 19 (a)
OneToMany
Species where no ortholog for ADAM23 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ADAM23 Gene

ENSEMBL:
Gene Tree for ADAM23 (if available)
TreeFam:
Gene Tree for ADAM23 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ADAM23: view image

Paralogs for ADAM23 Gene

(14) SIMAP similar genes for ADAM23 Gene using alignment to 7 proteins:

  • ADA23_HUMAN
  • E7EWD3_HUMAN
  • H7C2M6_HUMAN
  • Q53RX4_HUMAN
  • Q53TC0_HUMAN
  • Q53TK5_HUMAN
  • Q9UKK1_HUMAN
genes like me logo Genes that share paralogs with ADAM23: view

Variants for ADAM23 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ADAM23 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
711352 Benign: not provided 206,588,163(+) C/T INTRON_VARIANT
723172 Likely Benign: not provided 206,481,273(+) C/T SYNONYMOUS_VARIANT
726717 Benign: not provided 206,594,737(+) T/C SYNONYMOUS_VARIANT
741391 Likely Benign: not provided 206,587,351(+) C/T SYNONYMOUS_VARIANT
750292 Likely Benign: not provided 206,550,091(+) G/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ADAM23 Gene

Structural Variations from Database of Genomic Variants (DGV) for ADAM23 Gene

Variant ID Type Subtype PubMed ID
esv3344531 CNV insertion 20981092
esv3594069 CNV loss 21293372
nsv1011347 CNV gain 25217958
nsv1072485 CNV deletion 25765185
nsv1116823 CNV deletion 24896259
nsv1126576 CNV deletion 24896259
nsv1153377 CNV insertion 26484159
nsv472414 CNV novel sequence insertion 20440878
nsv477754 CNV novel sequence insertion 20440878
nsv478360 CNV novel sequence insertion 20440878
nsv584247 CNV gain 21841781
nsv954823 CNV duplication 24416366
nsv954824 CNV duplication 24416366

Variation tolerance for ADAM23 Gene

Residual Variation Intolerance Score: 9.87% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.61; 31.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADAM23 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADAM23

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADAM23 Gene

Disorders for ADAM23 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ADAM23 Gene - From: DISEASES

Disorder Aliases PubMed IDs
laurence-moon syndrome
  • lnms
epilepsy, familial temporal lobe, 1
  • etl1
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ADAM23

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ADAM23: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ADAM23 Gene

Publications for ADAM23 Gene

  1. Metalloproteinase-like, disintegrin-like, cysteine-rich proteins MDC2 and MDC3: novel human cellular disintegrins highly expressed in the brain. (PMID: 9693107) Sagane K … Tanaka I (The Biochemical journal 1998) 2 3 4 23
  2. Two novel isoforms of Adam23 expressed in the developmental process of mouse and human brains. (PMID: 14697522) Sun YP … Zhao S (Gene 2004) 3 4 23
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  4. Association and interaction analyses of eight genes under asthma linkage peaks. (PMID: 19824886) Ferreira MA … Duffy DL (Allergy 2009) 3 41
  5. ADAM 23/MDC3, a human disintegrin that promotes cell adhesion via interaction with the alphavbeta3 integrin through an RGD-independent mechanism. (PMID: 10749942) Cal S … López-Otín C (Molecular biology of the cell 2000) 3 4

Products for ADAM23 Gene

Sources for ADAM23 Gene