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

Gene ID: 8745, updated on 4-Nov-2022

Summary

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

See ADAM23 in Genome Data Viewer
Location:
2q33.3
Exon count:
27
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (206443532..206621127)
110 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 heterogeneous nuclear ribonucleoprotein A1 pseudogene 51 Neighboring gene ACER2 pseudogene 1 Neighboring gene family with sequence similarity 237 member A Neighboring gene dystrotelin Neighboring gene VPS26C pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
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
PubMed 

General protein information

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_001410985.1NP_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
  2. NM_003812.4NP_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
    UniProtKB/TrEMBL
    A0A024R3W8
    Related
    ENSP00000264377.3, ENST00000264377.8
    Conserved Domains (4) summary
    smart00050
    Location:511585
    DISIN; Homologues of snake disintegrins
    smart00608
    Location:587726
    ACR; ADAM Cysteine-Rich Domain
    pfam01421
    Location:299496
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:127249
    Pep_M12B_propep; Reprolysin family propeptide

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_011512086.3XP_011510388.1  disintegrin and metalloproteinase domain-containing protein 23 isoform X2

    UniProtKB/TrEMBL
    E7EWD3
    Related
    ENSP00000363536.3, ENST00000374415.7
    Conserved Domains (4) summary
    smart00050
    Location:511585
    DISIN; Homologues of snake disintegrins
    smart00608
    Location:587726
    ACR; ADAM Cysteine-Rich Domain
    pfam01421
    Location:299496
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:127249
    Pep_M12B_propep; Reprolysin family propeptide
  2. XM_005246932.4XP_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:511585
    DISIN; Homologues of snake disintegrins
    smart00608
    Location:587726
    ACR; ADAM Cysteine-Rich Domain
    pfam01421
    Location:299496
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:127249
    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)