ADAM28

ADAM metallopeptidase domain 28, the group of ADAM metallopeptidase domain containing

Basic information

Region (hg38): 8:24294069-24359014

Links

ENSG00000042980 ∙ NCBI:10863 ∙ OMIM:606188 ∙ HGNC:206 ∙ Uniprot:Q9UKQ2 ∙ 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 ADAM28 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADAM28 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				3		3
missense			39	8	1	48
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	39	11	1

Variants in ADAM28

This is a list of pathogenic ClinVar variants found in the ADAM28 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-24299977-G-A		not specified	Likely benign (Jan 26, 2022)
8-24299991-C-A		not specified	Uncertain significance (Jun 07, 2024)
8-24311367-T-A		not specified	Uncertain significance (Jun 27, 2023)
8-24311434-T-C		not specified	Uncertain significance (Nov 29, 2023)
8-24313393-A-G		not specified	Uncertain significance (Oct 10, 2023)
8-24313419-T-C		not specified	Uncertain significance (Sep 12, 2023)
8-24313443-C-A			Benign (Apr 17, 2018)
8-24313513-G-A		not specified	Uncertain significance (Mar 31, 2022)
8-24313543-T-G		not specified	Uncertain significance (Feb 28, 2024)
8-24313553-C-G		not specified	Uncertain significance (May 09, 2022)
8-24320275-A-G		not specified	Uncertain significance (Nov 18, 2022)
8-24323862-C-T		not specified	Uncertain significance (Jan 26, 2022)
8-24323873-A-G		not specified	Uncertain significance (Sep 22, 2023)
8-24323874-T-C		not specified	Uncertain significance (Jun 24, 2022)
8-24323991-C-T		not specified	Uncertain significance (Apr 13, 2022)
8-24326567-G-T		not specified	Likely benign (Jan 08, 2024)
8-24326621-G-A		not specified	Uncertain significance (May 17, 2023)
8-24326627-G-A			Likely benign (Dec 31, 2019)
8-24330021-A-T		not specified	Uncertain significance (Aug 17, 2022)
8-24330036-G-C		not specified	Uncertain significance (Jun 06, 2023)
8-24331155-A-G		not specified	Uncertain significance (Oct 22, 2021)
8-24331156-T-C			Likely benign (Nov 01, 2022)
8-24331164-C-T		not specified	Uncertain significance (Oct 27, 2022)
8-24331172-A-G		not specified	Uncertain significance (Jan 26, 2022)
8-24331182-G-T		not specified	Uncertain significance (Jan 02, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADAM28	protein_coding	protein_coding	ENST00000265769	23	64979

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.96e-24	0.00343	125543	1	204	125748	0.000815

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.915	467	415	1.13	0.0000201	5172
Missense in Polyphen		158	151.64	1.042		1972
Synonymous	-0.428	149	143	1.05	0.00000730	1347
Loss of Function	0.676	39	43.8	0.890	0.00000204	580

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00225	0.00221
Ashkenazi Jewish	0.000603	0.000595
East Asian	0.000490	0.000489
Finnish	0.00	0.00
European (Non-Finnish)	0.000538	0.000528
Middle Eastern	0.000490	0.000489
South Asian	0.00256	0.00249
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in the adhesive and proteolytic events that occur during lymphocyte emigration or may function in ectodomain shedding of lymphocyte surface target proteins, such as FASL and CD40L. May be involved in sperm maturation.
• Pathway: Alpha4 beta1 integrin signaling events (Consensus)

Recessive Scores

• pRec: 0.125

Intolerance Scores

• loftool: 0.994
• rvis_EVS: 0.76
• rvis_percentile_EVS: 86.85

Haploinsufficiency Scores

• pHI: 0.145
• hipred: N
• hipred_score: 0.133
• ghis: 0.389

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.122

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adam28

Gene ontology

• Biological process: proteolysis;spermatogenesis
• Cellular component: extracellular region;mitochondrion;plasma membrane;integral component of membrane
• Molecular function: metalloendopeptidase activity;metallopeptidase activity;metal ion binding