SPATA25 (Spermatogenesis Associated 25)

A testis-specific gene implicated in male fertility and spermatogenesis

Gene Information Card

Symbol SPATA25
Full Name Spermatogenesis Associated 25
Gene Type protein-coding
Chromosomal Location 20q13.33
NCBI Gene ID 221468 ncbi.nlm.nih.gov/gene/221468
Ensembl ID ENSG00000196411
UniProt ID Q8N6M3
OMIM ID 614170
HGNC ID 28372
Aliases C20orf75, dJ1042K10.5

Description

SPATA25 (Spermatogenesis Associated 25) is a protein-coding gene located on chromosome 20q13.33. It is predominantly expressed in the testis and is thought to play a role in spermatogenesis. The encoded protein is localized to the cytoplasm and may be involved in sperm development and male fertility. Limited functional studies exist, and its precise molecular mechanism remains under investigation.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Male infertility Potential role in spermatogenesis; reduced expression may impair sperm production Limited; inferred from testis-specific expression and animal models

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.5 Medium
Other tissues <1.0 Not detected
Cell Line Expression
Cell Line nTPM Notes
Testicular germ cells 12.5 Primary cells
Sertoli cells 0.5 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G Missense <0.01% Unknown; predicted to affect protein start
Mutation functional classification

Loss of Function (LOF)

No confirmed loss-of-function mutations reported in ClinVar or COSMIC.

Gain of Function (GOF)

No evidence of gain-of-function mutations.

Dominant Negative (DN)

No evidence of dominant-negative effects.

Gene Ontology (GO)

• spermatogenesis • male gamete generation
• cytoplasm

Pathways

• Spermatogenesis

Protein Summary

The SPATA25 protein (UniProt Q8N6M3) is a 147-amino acid protein with no characterized domains. It is predicted to be cytoplasmic and testis-specific. Its exact biochemical function is unknown, but it is presumed to be involved in the later stages of sperm development.

Related Products

Product name Cat.No. Species Gene ID
SPATA25 Knockout HEK293 Cell Line EDJ-KQ9176 Human 128497 Details Get a Quote
SPATA25 Knockout HeLa Cell Line EDJ-KQ35720 Human 128497 Details Get a Quote
SPATA25 Knockout A-549 Cell Line EDJ-KQ66728 Human 128497 Details Get a Quote
SPATA25 Knockout HCT 116 Cell Line EDJ-KQ75139 Human 128497 Details Get a Quote
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