• Gene id: 346673

Gene Summary

• Gene Symbol: STRA8   Gene   UCSC   Ensembl
• Gene name: stimulated by retinoic acid 8
• Alternate names: stimulated by retinoic acid gene 8 protein homolog, stimulated by retinoic acid 8 homolog, stimulated by retinoic acid gene 8 homolog,
• Gene location: 7q33 (135231978: 135258660)     Exons: 11     NC_000007.14
• Gene summary(Entrez): This gene encodes a retinoic acid-responsive protein. A homologous protein in mouse has been shown to be involved in the regulation of meiotic initiation in both spermatogenesis and oogenesis, though feature differences between the mouse and human protein
• OMIM: 609987

SNPs

rs10269148

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.135230056C>A
NC_000007.14   g.135230056C>G
NC_000007.13   g.134914808C>A
NC_000007.13   g.134914808C>G|SEQ=[C/A/G]|GENE=STRA8

rs17168319

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.135230201A>G
NC_000007.13   g.134914953A>G|SEQ=[A/G]|GENE=STRA8

rs17168337

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.135258880C>G
NC_000007.13   g.134943632C>G|SEQ=[C/G]|GENE=STRA8

Protein Summary

• Protein general information: Q7Z7C7  
  • Name: Stimulated by retinoic acid gene 8 protein homolog
  • Length: 330  
  • Mass: 36,908
• Sequence:

  MGKIDVDKILFFNQEIRLWQLIMATPEENSNPHDRATPQLPAQLQELEHRVARRRLSQARHRATLAALFNNLRKT
  VYSQSDLIASKWQVLNKAKSHIPELEQTLDNLLKLKASFNLEDGHASSLEEVKKEYASMYSGNDSFPQNGSSPWY
  LNFYKQTMDLLTGSGIITPQEAALPIVSAAISHLWQNLSEERKASLRQAWAQKHRGPATLAEACREPACAEGSVK
  DSGVDSQGASCSLVSTPEEILFEDAFDVASFLDKSEVPSTSSSSSVLASCNPENPEEKFQLYMQIINFFKGLSCA
  NTQVKQEASFPVDEEMIMLQCTETFDDEDL

• Structural information:
  • Interpro: IPR036638  IPR033537  
  • STRING: ENSP00000275764
• Other Databases: GeneCards:  STRA8  Malacards:  STRA8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001541	ovarian follicle development	IEA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006260	DNA replication	IEA	biological process
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007066	female meiosis sister chromatid cohesion	IEA	biological process
GO:0007129	synapsis	IEA	biological process
GO:0007131	reciprocal meiotic recombination	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0009566	fertilization	IEA	biological process
GO:0010032	meiotic chromosome condensation	IEA	biological process
GO:0033315	meiotic DNA replication checkpoint	IEA	biological process
GO:0042138	meiotic DNA double-strand break formation	IEA	biological process
GO:0046620	regulation of organ growth	IEA	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0048599	oocyte development	IEA	biological process
GO:0071300	cellular response to retinoic acid	IEA	biological process
GO:0001541	ovarian follicle development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006260	DNA replication	IEA	biological process
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007066	female meiosis sister chromatid cohesion	IEA	biological process
GO:0007129	synapsis	IEA	biological process
GO:0007131	reciprocal meiotic recombination	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0009566	fertilization	IEA	biological process
GO:0010032	meiotic chromosome condensation	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0033315	meiotic DNA replication checkpoint	IEA	biological process
GO:0042138	meiotic DNA double-strand break formation	IEA	biological process
GO:0046620	regulation of organ growth	IEA	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0048477	oogenesis	IEA	biological process
GO:0048599	oocyte development	IEA	biological process
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0071300	cellular response to retinoic acid	IEA	biological process
GO:0005634	nucleus	IDA	cellular component

Diseases

Associated diseases	References
Spermatogenesis defects	MIK: 23320086
Oligozoospermia	MIK: 23320086
Azoospermia	MIK: 23320086
Cryptorchidism	MIK: 28606200
Non-obstructive azoospermia	MIK: 28718531
Spermatogenic defects	MIK: 23320086
Azoospermia	MIK: 23320086
Oligozoospermia	MIK: 23320086

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
23320086	Spermatogenic impairment, azoospermia, oligozoospermia	Cyp26b1 (rs2241057, rs707718), Nanos2 (rs1422627, rs9304651, rs2015728), Stra8 (rs10269148, rs17168319, rs17168337)	Han Chi nese	1102 (719 idiopathic infertile cases (201 azoospermia patients (no sperm in the ejaculate even after centrifugation), 155 oligozoospermia patients (sperm counts <20×10(6)/ml) and 363 infertility/normozoospermia subjects (sperm counts >20×10(6)/ml)), 383 c	Male infertility	CYP26B1 NANOS1 and STRA8
28718531	Non-obstructive azoospermia	c.C74T, p.(Thr25Ile)	Japanes e	40 patients with idiopathic non-obstructive azoospermia	Male infertility	NGS
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq