ADAM21

ADAM metallopeptidase domain 21, the group of ADAM metallopeptidase domain containing

Basic information

Region (hg38): 14:70417107-70460427

Links

ENSG00000139985 ∙ NCBI:8747 ∙ OMIM:603713 ∙ HGNC:200 ∙ Uniprot:Q9UKJ8 ∙ 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 ADAM21 gene.

• not_specified (98 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADAM21 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000003813.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			90	8		98
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	90	8	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADAM21	protein_coding	protein_coding	ENST00000603540	1	7749

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.58e-12	0.0465	125651	1	96	125748	0.000386

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.311	360	377	0.955	0.0000187	4767
Missense in Polyphen		86	91.087	0.94416		1245
Synonymous	-1.54	159	136	1.17	0.00000698	1349
Loss of Function	0.140	18	18.7	0.965	8.07e-7	263

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00121	0.00120
Ashkenazi Jewish	0.000397	0.000397
East Asian	0.000426	0.000381
Finnish	0.0000963	0.0000924
European (Non-Finnish)	0.000239	0.000237
Middle Eastern	0.000426	0.000381
South Asian	0.000686	0.000686
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in sperm maturation and/or fertilization. May also be involved in epithelia functions associated with establishing and maintaining gradients of ions or nutrients.
• Pathway: Interaction With The Zona Pellucida;Fertilization;Reproduction (Consensus)

Recessive Scores

• pRec: 0.0921

Intolerance Scores

• loftool: 0.728
• rvis_EVS: -0.11
• rvis_percentile_EVS: 45.57

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.255

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adam21
• Phenotype: normal phenotype

Gene ontology

• Biological process: proteolysis;single fertilization;binding of sperm to zona pellucida
• Cellular component: plasma membrane;integral component of membrane;axon;neuronal cell body
• Molecular function: metalloendopeptidase activity;metallopeptidase activity;metal ion binding