ADAM23

ADAM metallopeptidase domain 23, the group of ADAM metallopeptidase domain containing

Basic information

Region (hg38): 2:206443532-206621127

Links

ENSG00000114948 ∙ NCBI:8745 ∙ OMIM:603710 ∙ HGNC:202 ∙ Uniprot:O75077 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ADAM23 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADAM23 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			38	4	1	43
nonsense						0
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				3	1	4
non coding					1	1
Total	0	0	39	6	2

Variants in ADAM23

This is a list of pathogenic ClinVar variants found in the ADAM23 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-206443879-G-C		not specified	Uncertain significance (Jan 30, 2024)
2-206443933-T-C		not specified	Uncertain significance (Jan 24, 2024)
2-206443945-C-T		not specified	Uncertain significance (Apr 08, 2024)
2-206443976-C-T		not specified	Uncertain significance (Dec 20, 2023)
2-206443999-C-T		not specified	Uncertain significance (Sep 09, 2021)
2-206444047-C-T		not specified	Uncertain significance (Oct 20, 2023)
2-206444078-G-A		not specified	Uncertain significance (Aug 04, 2023)
2-206445313-A-T		not specified	Uncertain significance (Oct 25, 2023)
2-206445340-T-C		not specified	Uncertain significance (Oct 26, 2021)
2-206445377-G-T		not specified	Uncertain significance (Dec 16, 2023)
2-206445411-A-G			Likely benign (Dec 31, 2019)
2-206445445-T-C		not specified	Uncertain significance (May 20, 2024)
2-206445446-A-G			Likely benign (Nov 06, 2018)
2-206445450-T-A		not specified	Uncertain significance (May 20, 2024)
2-206445453-A-C		not specified	Uncertain significance (Dec 20, 2021)
2-206445465-T-G			Likely benign (Dec 31, 2019)
2-206445486-C-A		not specified	Uncertain significance (Feb 01, 2023)
2-206481233-C-G		not specified	Uncertain significance (Apr 08, 2024)
2-206481273-C-T			Likely benign (Apr 17, 2018)
2-206530914-T-G		not specified	Uncertain significance (Nov 07, 2022)
2-206542074-A-G		not specified	Uncertain significance (May 24, 2023)
2-206542104-A-G		not specified	Likely benign (May 26, 2022)
2-206543300-A-C		not specified	Uncertain significance (Dec 14, 2022)
2-206547451-T-C		not specified	Uncertain significance (Jul 12, 2023)
2-206550091-G-A			Likely benign (Jul 16, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADAM23	protein_coding	protein_coding	ENST00000264377	26	177589

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.997	0.00291	125736	0	12	125748	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.90	329	441	0.746	0.0000235	5453
Missense in Polyphen		104	195.69	0.53145		2311
Synonymous	2.45	120	159	0.753	0.00000907	1522
Loss of Function	5.69	8	52.4	0.153	0.00000261	635

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000124	0.000123
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000545	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000528	0.0000527
Middle Eastern	0.0000545	0.0000544
South Asian	0.0000654	0.0000653
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in cell-cell and cell-matrix interactions. This is a non-catalytic metalloprotease-like protein.
• Pathway: Developmental Biology;LGI-ADAM interactions (Consensus)

Recessive Scores

• pRec: 0.0859

Intolerance Scores

• loftool: 0.511
• rvis_EVS: -0.04
• rvis_percentile_EVS: 50.45

Haploinsufficiency Scores

• pHI: 0.616
• hipred: Y
• hipred_score: 0.736
• ghis: 0.528

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.256

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Adam23
• Phenotype: skeleton phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); craniofacial phenotype; growth/size/body region phenotype

Gene ontology

• Biological process: proteolysis;cell adhesion;central nervous system development;cellular response to leukemia inhibitory factor
• Cellular component: extracellular region;plasma membrane;integral component of plasma membrane;glutamatergic synapse;integral component of presynaptic membrane
• Molecular function: metalloendopeptidase activity;integrin binding;protein binding;metallopeptidase activity