STRA8: Stimulated by Retinoic Acid 8

Key regulator of meiotic initiation in germ cells

Gene Information Card

Symbol STRA8
Full Name Stimulated by Retinoic Acid 8
Gene Type Protein coding
Chromosomal Location 7q33
NCBI Gene ID 64293 ncbi.nlm.nih.gov/gene/64293
Ensembl ID ENSG00000146856
UniProt ID Q7Z7C8
OMIM ID 609987
HGNC ID 30644
Aliases STRA8, stimulated by retinoic acid 8

Description

STRA8 (Stimulated by Retinoic Acid 8) is a protein-coding gene that plays a critical role in the initiation of meiosis in germ cells. It is directly induced by retinoic acid and is essential for spermatogenesis and oogenesis. STRA8 expression is restricted to premeiotic germ cells in the testis and ovary, and its function is required for the transition from mitotic to meiotic cell cycle.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Non-obstructive azoospermia Loss of STRA8 function disrupts meiotic initiation in spermatocytes, leading to impaired spermatogenesis ClinVar: pathogenic variants in STRA8 associated with male infertility
Premature ovarian failure Defects in STRA8 impair meiotic entry in oocytes, contributing to ovarian dysfunction OMIM: 609987; case reports of STRA8 mutations in women with primary ovarian insufficiency

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.5 High
Ovary 3.2 Low
Fallopian tube 0.8 Not detected
Endometrium 0.5 Not detected
Prostate 0.3 Not detected
Cell Line Expression
Cell Line nTPM Notes
Spermatogonia 45.0 High expression; key for meiotic initiation
Primary spermatocytes 30.0 Expressed during early meiosis
Oogonia 20.0 Expressed in fetal ovary
HEK293 0.1 Not expressed; non-germline cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G (p.Met1?) Missense Rare Loss of start codon; likely loss of function
c.295C>T (p.Arg99*) Nonsense Rare Premature stop; loss of function
c.464_465del (p.Leu155fs) Frameshift Rare Frameshift; loss of function
Mutation functional classification

Loss of Function (LOF)

STRA8 loss-of-function mutations impair meiotic initiation, leading to infertility in both males and females.

Gain of Function (GOF)

No gain-of-function mutations reported for STRA8.

Dominant Negative (DN)

No dominant-negative mutations reported for STRA8.

Pathways

Retinoic acid signaling pathway
Meiotic cell cycle

Protein Summary

The STRA8 protein is a nuclear and cytoplasmic protein that acts as a key regulator of meiotic initiation. It is induced by retinoic acid and is essential for the transition from mitotic to meiotic cell cycle in germ cells. The protein contains a conserved domain of unknown function (DUF) and is involved in transcriptional regulation. STRA8 is primarily expressed in premeiotic germ cells of the testis and ovary.

Related Products

Product name Cat.No. Species Gene ID
STRA8 Knockout HEK293 Cell Line EDJ-KQ15551 Human 346673 Details Get a Quote
STRA8 Knockout HeLa Cell Line EDJ-KQ59805 Human 346673 Details Get a Quote
STRA8 Knockout A-549 Cell Line EDJ-KQ68273 Human 346673 Details Get a Quote
STRA8 Knockout HCT 116 Cell Line EDJ-KQ76648 Human 346673 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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