SOHLH2 spermatogenesis and oogenesis specific basic helix-loop-helix 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SOHLH2provided by HGNC
Official Full Name: spermatogenesis and oogenesis specific basic helix-loop-helix 2provided by HGNC
Primary source: HGNC:HGNC:26026
See related: Ensembl:ENSG00000120669 MIM:616066; AllianceGenome:HGNC:26026
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TEB1; SOSF2; SPATA28; bHLHe81
Summary: This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 13. The proteins encoded by this gene and another testis-specific transcription factor, SOHLH1, can form heterodimers, in addition to homodimers. There is a read-through locus (GeneID: 100526761) that shares sequence identity with this gene and the upstream CCDC169 (GeneID: 728591). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]
Expression: Restricted expression toward testis (RPKM 13.1) See more
Orthologs: mouse all
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Genomic context

Location:: 13q13.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (36168217..36214556, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (35387717..35434075, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (36742354..36788693, complement)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Sohlh2 Regulates the Stemness and Differentiation of Colon Cancer Stem Cells by Downregulating LncRNA-H19 Transcription.
Title: Sohlh2 Regulates the Stemness and Differentiation of Colon Cancer Stem Cells by Downregulating LncRNA-H19 Transcription.
SOHLH2 Suppresses Angiogenesis by Downregulating HIF1alpha Expression in Breast Cancer.
Title: SOHLH2 Suppresses Angiogenesis by Downregulating HIF1α Expression in Breast Cancer.
Germline variants at SOHLH2 influence multiple myeloma risk.
Title: Germline variants at SOHLH2 influence multiple myeloma risk.
Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment.
Title: Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment.
Sohlh2 alleviates malignancy of EOC cells under hypoxia via inhibiting the HIF1alpha/CA9 signaling pathway.
Title: Sohlh2 alleviates malignancy of EOC cells under hypoxia via inhibiting the HIF1α/CA9 signaling pathway.
Data found that sohlh2 overexpression inhibited breast cancer cell proliferation in vitro and tumor growth in vivo. In contrast, sohlh2 silencing induced the opposite effects. These functional effects of sohlh2 were exerted through inhibiting Wnt/beta- catenin signaling by the increase of APC expression. These findings provide a novel mechanistic role of sohlh2 in breast tumorigenesis.
Title: Sohlh2 inhibits breast cancer cell proliferation by suppressing Wnt/β-catenin signaling pathway.
sohlh2 functions as a tumor metastasis suppressor via suppressing IL-8 expression in breast cancer
Title: Sohlh2 suppresses epithelial to mesenchymal transition in breast cancer via downregulation of IL-8.
Results identified MMP9 as a novel target for transcriptional inactivation by Sohlh2 and demonstrated that the Sohlh2 downregulation of MMP9 is critical for inhibiting human ovarian cancer cell invasion.
Title: Sohlh2 inhibits human ovarian cancer cell invasion and metastasis by transcriptional inactivation of MMP9.
the expression of Sohlh genes in human tissues
Title: Immunohistochemical Study of Expression of Sohlh1 and Sohlh2 in Normal Adult Human Tissues.
The polymorphisms rs1328626 and rs6563386 of the SOHLH2 gene would be the genetic risk factors for nonobstructive azoospermia in the Chinese population. The SNP rs1328641 might influence testes development in the NOA patients.
Title: Association of genetic variants in SOHLH1 and SOHLH2 with non-obstructive azoospermia risk in the Chinese population.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
The genetic architecture of economic and political preferences. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Readthrough CCDC169-SOHLH2

Readthrough gene: CCDC169-SOHLH2, Included gene: CCDC169

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein heterodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in oocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in spermatogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
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

Names: spermatogenesis associated 28; testicular secretory protein Li 50; testicular secretory protein Li 51

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.

Genomic

NG_033786.1 RefSeqGene

Range

5060..51399

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001282147.2 → NP_001269076.1 spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2 isoform 2

See identical proteins and their annotated locations for NP_001269076.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks several exons but has an alternate 3' terminal exon, compared to variant 1. The resulting isoform (2) is much shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AL160392, BC025383

Consensus CDS

CCDS61309.1

UniProtKB/Swiss-Prot

Q9NX45

Related

ENSP00000326838.6, ENST00000317764.6
NM_017826.3 → NP_060296.2 spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2 isoform 1

See identical proteins and their annotated locations for NP_060296.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (2).

Source sequence(s)

AI368806, AK000456, AL160392, DB022954

Consensus CDS

CCDS9355.1

UniProtKB/Swiss-Prot

B4DX90, Q5EGC3, Q8TC74, Q96QX4, Q9NX45

UniProtKB/TrEMBL

A0A140VK50

Related

ENSP00000369210.3, ENST00000379881.8

Conserved Domains (1) summary

cd00083
Location:197 → 257

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, ...