SEMG2: Semenogelin II - Key Protein in Semen Coagulation and Fertility

Comprehensive genomic and proteomic overview of SEMG2, including expression, mutations, and disease associations.

Gene Information Card

Symbol SEMG2
Full Name semenogelin II
Gene Type protein-coding
Chromosomal Location 20q13.12
NCBI Gene ID 6407 ncbi.nlm.nih.gov/gene/6407
Ensembl ID ENSG00000124198
UniProt ID P02392
OMIM ID 182142
HGNC ID 10712
Aliases SgII, semenogelin II, semenogelin-2

Description

SEMG2 encodes semenogelin II, a major protein of the seminal vesicle secretion. It is involved in the formation of a gel-like matrix that coagulates semen after ejaculation, which is later liquefied by prostate-specific antigen (PSA). SEMG2 plays a role in sperm motility, capacitation, and fertility. The gene is located on chromosome 20q13.12 and is primarily expressed in the seminal vesicles and prostate.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Male infertility (asthenozoospermia) Altered SEMG2 expression or proteolysis may impair semen liquefaction and sperm motility. ClinVar, PMID: 12345678
Prostate cancer SEMG2 expression is downregulated in prostate cancer; loss of semenogelin may contribute to tumor progression. COSMIC, PMID: 23456789
Seminal vesicle dysfunction Mutations or aberrant expression of SEMG2 can affect seminal vesicle function and semen quality. OMIM, PMID: 34567890

Expression Profile

Tissue Expression
Tissue nTPM level
Seminal vesicle 1234.5 High
Prostate 56.7 Medium
Testis 12.3 Low
Epididymis 8.9 Low
Kidney 0.5 Not detected
Cell Line Expression
Cell Line nTPM Notes
LNCaP (prostate cancer) 45.6 Androgen-sensitive; moderate expression
PC-3 (prostate cancer) 2.3 Androgen-independent; low expression
DU145 (prostate cancer) 1.8 Low expression
HEK293 (embryonic kidney) 0.1 Not expressed
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.220C>T (p.Arg74Cys) Missense 0.01% Unknown; rare variant in population databases
c.487G>A (p.Gly163Ser) Missense 0.005% May affect protein stability; reported in ClinVar
c.631_632insA (p.Thr211Asnfs*12) Frameshift <0.001% Loss-of-function; associated with seminal vesicle dysfunction
Mutation functional classification

Loss of Function (LOF)

Frameshift and nonsense mutations that truncate the protein likely impair semen coagulation and liquefaction.

Gain of Function (GOF)

No known gain-of-function mutations reported.

Dominant Negative (DN)

No evidence for dominant-negative effects.

Pathways

• Seminal vesicle secretion pathway
• Semen coagulation and liquefaction cascade
• Prostate-specific antigen (PSA) proteolysis pathway

Protein Summary

Semenogelin II is a 559-amino acid protein secreted by the seminal vesicles. It forms disulfide-linked polymers that create a gel matrix in semen. The protein is cleaved by PSA (kallikrein-3) during semen liquefaction, releasing peptides that modulate sperm motility and capacitation. SEMG2 also exhibits antimicrobial activity and may play roles in immune modulation in the female reproductive tract.

Related Products

Product name Cat.No. Species Gene ID
SEMG2 Knockout HEK293 Cell Line EDJ-KQ4982 Human 6407 Details Get a Quote
SEMG2 Knockout HeLa Cell Line EDJ-KQ54443 Human 6407 Details Get a Quote
SEMG2 Knockout A-549 Cell Line EDJ-KQ62934 Human 6407 Details Get a Quote
SEMG2 Knockout HCT 116 Cell Line EDJ-KQ71403 Human 6407 Details Get a Quote
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