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

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
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

Location:: 2q33.3

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
109.20211119	current	GRCh38.p13 (GCF_000001405.39)	2	NC_000002.12 (206443532..206621127)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (207308256..207485851)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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

Associated conditions

Description	Tests
Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder. GeneReviews: Not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-3215 (e-PCR)
- UniSTS:35078

G20399 (e-PCR)
- UniSTS:36109

A005P25 (e-PCR)
- UniSTS:36110

SHGC-105851 (e-PCR)
- UniSTS:169486

AW046396 (e-PCR)
- UniSTS:164117

RH81077 (e-PCR)
- UniSTS:86060

SHGC-1663 (e-PCR)
- UniSTS:173361

RH102758 (e-PCR)
- UniSTS:97092

WI-14343 (e-PCR)
- UniSTS:24400

D2S369 (e-PCR)
- UniSTS:17023

RH66377 (e-PCR)
- UniSTS:67232

SHGC-37606 (e-PCR)
- UniSTS:62635

G20230 (e-PCR)
- UniSTS:76220

A005A43 (e-PCR)
- UniSTS:76221

SHGC-56733 (e-PCR)
- UniSTS:42689

MARC_14763-14764:1032183956:1 (e-PCR)
- UniSTS:267726

D2S422 (e-PCR), detects polymorphism
- UniSTS:50384

SHGC-60293 (e-PCR)
- UniSTS:68049

RH16640 (e-PCR)
- UniSTS:63188

A002R48 (e-PCR)
- UniSTS:1276

Homology

Homologs of the ADAM23 gene: The ADAM23 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 326 organisms have orthologs with human gene ADAM23
Orthologs

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 integral component of plasma membrane	TAS Traceable Author Statement more info	PubMed
is_active_in integral component of presynaptic membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement 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

NG_029874.2 RefSeqGene

Range

4889..182484

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

See identical proteins and their annotated locations for NP_003803.1

Status: REVIEWED

Source sequence(s)

AB009672, AC009225, AC010731, CN399765, R43984

Consensus CDS

CCDS2369.1

UniProtKB/Swiss-Prot

O75077

UniProtKB/TrEMBL

A0A024R3W8

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: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p13 Primary Assembly

Range

206443532..206621127

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011512086.2 → XP_011510388.1 disintegrin and metalloproteinase domain-containing protein 23 isoform X2

See identical proteins and their annotated locations for XP_011510388.1

UniProtKB/TrEMBL

E7EWD3

Related

ENSP00000363536.3, ENST00000374415.7

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
XM_005246932.3 → 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