Sohlh2 spermatogenesis and oogenesis specific basic helix-loop-helix 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sohlh2provided by MGI
Official Full Name: spermatogenesis and oogenesis specific basic helix-loop-helix 2provided by MGI
Primary source: MGI:MGI:1921684
See related: Ensembl:ENSMUSG00000027794 AllianceGenome:MGI:1921684
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Sosf2; 4933406N12Rik
Summary: Enables DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II transcription regulatory region sequence-specific DNA binding activity; and protein dimerization activity. Involved in oocyte differentiation; positive regulation of transcription by RNA polymerase II; and spermatogenesis. Acts upstream of or within primary ovarian follicle growth and regulation of gene expression. Predicted to be located in cytoplasm. Predicted to be active in nucleus. Is expressed in early conceptus; eye; genitourinary system; heart; and liver. Orthologous to several human genes including CCDC169-SOHLH2 (CCDC169-SOHLH2 readthrough). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in testis adult (RPKM 4.3), placenta adult (RPKM 0.7) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 3 C; 3 26.53 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (55089465..55117378)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (55182044..55209957)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Sohlh2 promotes pulmonary fibrosis via repression of p62/Keap1/Nrf2 mediated anti-oxidative signaling pathway.
Title: Sohlh2 promotes pulmonary fibrosis via repression of p62/Keap1/Nrf2 mediated anti-oxidative signaling pathway.
Sohlh1 and Sohlh2 are essential regulators of oocyte differentiation but do not affect meiosis I.
Title: Transcription factors SOHLH1 and SOHLH2 coordinate oocyte differentiation without affecting meiosis I.
SOHLH2 is critical for the formation of synaptonemal complexes.
Title: SOHLH2 is essential for synaptonemal complex formation during spermatogenesis in early postnatal mouse testes.
Sohlh2 may inhibit oocyte apoptosis via c-kit/PI3K/Akt/Foxo3a signalling pathway
Title: Sohlh2 inhibits the apoptosis of mouse primordial follicle oocytes via C-kit/PI3K/Akt/Foxo3a signalling pathway.
SOHLH1 and SOHLH2 were able to directly and cooperatively repress STRA8 expression in cell lines in vitro through binding to its promoter.
Title: SOHLH1 and SOHLH2 directly down-regulate STIMULATED BY RETINOIC ACID 8 (STRA8) expression.
Our findings suggest that an SOHLH2/SOHLH1/SP1 ternary complex autonomously and cooperatively regulates Sohlh1 gene transcription through juxtaposed E- and GC-boxes during early spermatogenesis and oogenesis.
Title: Auto-regulation of the Sohlh1 gene by the SOHLH2/SOHLH1/SP1 complex: implications for early spermatogenesis and oogenesis.
Effects of BMP4 on mouse primordial follicle growth were assayed by follicle count and TUNEL labeling. The expression of phospho-SMAD1/5/8, Sohlh2, and c-kit were measured by immunohistochemistry, RT-PCR, and Western blotting.
Title: Effects of BMP4/SMAD signaling pathway on mouse primordial follicle growth and survival via up-regulation of Sohlh2 and c-kit.
SOHLH1 and SOHLH2 directly stimulate Kit transcription in postnatal spermatogonia, thus activating the signaling involved in spermatogonia differentiation and spermatogenetic progression.
Title: SOHLH1 and SOHLH2 control Kit expression during postnatal male germ cell development.
Data suggest that a dynamic DNA CpG methylation in Sohlh2 and Figlalpha promoters, but not in the intron and exon sequences, is linked to regulation of gene expression, even though CpG islands are also present in their introns or exons.
Title: DNA methylation of germ-cell-specific basic helix-loop-helix (HLH) transcription factors, Sohlh2 and Figlα during gametogenesis.
SOHLH1 and SOHLH2 suppress genes involved in spermatogonial stem cell maintenance, and induce genes important for spermatogonial differentiation.
Title: SOHLH1 and SOHLH2 coordinate spermatogonial differentiation.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation
Endonuclease-mediated (3)

General gene information

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Markers

Sohlh2 (e-PCR), detects polymorphism
- UniSTS:498804

Sohlh2 (e-PCR), detects polymorphism
- UniSTS:525720

Sohlh2 (e-PCR), detects polymorphism
- UniSTS:525721

Sohlh2 (e-PCR), detects polymorphism
- UniSTS:496543

AI413378 (e-PCR)
- UniSTS:185535

Sohlh2 (e-PCR), detects polymorphism
- UniSTS:546037

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info
enables protein heterodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
involved_in oocyte differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within oocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within oogenesis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within primary ovarian follicle growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in spermatogenesis	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_028937.3 → NP_083213.2 spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2

See identical proteins and their annotated locations for NP_083213.2

Status: VALIDATED

Source sequence(s)

AI413378, DQ086115

Consensus CDS

CCDS17358.1

UniProtKB/Swiss-Prot

Q4JI40, Q9D489

Related

ENSMUSP00000029369.5, ENSMUST00000029369.5

Conserved Domains (1) summary

cd00083
Location:205 → 256

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...