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SPAG11B

Synonyms
EDDM2B, EP2, EP2C, EP2D, HE2, HE2C, SPAG11, SPAG11A
External resources
Summary
This gene encodes several androgen-dependent, epididymis-specific secretory proteins. The specific functions of these proteins have not been determined, but they are thought to be involved in sperm maturation. Some of the isoforms contain regions of similarity to beta-defensins, a family of antimicrobial peptides. The gene is located on chromosome 8p23 near the defensin gene cluster. Alternative splicing of this gene results in seven transcript variants encoding different isoforms. Two different N-terminal and five different C-terminal protein sequences are encoded by the splice variants. Two additional variants have been described, but their full length sequences have not been determined.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
24,936
Likely benign
176
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SPAG11B gene.

Phenotype class
Patients in 3billion (%)

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