SOHLH2 - spermatogenesis and oogenesis specific basic helix-loop-helix 2 Gene

Also Known as TEB1; SOSF2; SPATA28; bHLHe81

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54937

About SOHLH2

Cytogenetic location: 13q13.3 Genomic coordinates (GRCh38): 13:36,168,217-36,214,556 (from NCBI)

This gene has 2 transcripts (splice variants), 85 orthologues, 1 paralogue and is associated with 1 phenotype. Restricted expression toward testis (RPKM 13.1).

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]

SOHLH2 Products (2)

mRNA	Protein	Name
NM_001282147.2	NP_001269076.1	spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2 isoform 2
NM_017826.3	NP_060296.2	spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2 isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SOHLH2 Protein Structure

HLH

0
100
200
300
400
425 a.a.

Protein Preferred Names	Protein Names
spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2	spermatogenesis associated 28

Related Diseases

Diseases	Alias
Spastic Paraplegia 24, Autosomal Recessive	SPG24 Spastic Paraplegia 24 Hereditary Spastic Paraplegia 24 Autosomal Recessive Spastic Paraplegia Type 24 Autosomal Recessive Spastic Paraplegia 24
Atrophy Of Testis	Atrophic Testicle Atrophy Of Testicle Testicular Atrophy
Hereditary Spastic Paraplegia 56	Autosomal Recessive Spastic Paraplegia Type 56 Spg56 Autosomal Recessive Spastic Paraplegia 56
Spastic Paraplegia 16, X-Linked	SPG16 Hereditary Spastic Paraplegia 16 X-Linked Spastic Paraplegia Type 16 Spastic Paraplegia 16, X-Linked, Complicated X-Linked Spastic Paraplegia 16 Spastic Paraplegia 16 Spastic Paraplegia-16, X-Linked, Complicated
Premature Menopause	Primary Ovarian Insufficiency Premature Ovarian Failure Hypergonadotropic Hypogonadism Premature Ovarian Insufficiency Menopause - Premature Menopause Praecox Menopause Premature Menopause, Premature Female Hypergonadotropic Hypogonadism Hypergonadotrophic Ovarian Failure Primary Female Hypogonadism Pof - [Premature Ovarian Failure] Ovarian Failure Ovarian Secretion Suppression Ovary Hyposecretion Ovary Secretion Deficiency Premature Menopause Nos
Spermatogenic Failure	Azoospermia Spgf Spermatogenic Failure, Susceptibility To Absent Sperm Aspermatogenesis Infertility Due To Azoospermia Hypospermatogenesis Azoospermatism
Perrault Syndrome	Gonadal Dysgenesis, Xx Type, With Deafness Ovarian Dysgenesis With Sensorineural Deafness Gonadal Dysgenesis, Xx Type Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance Xx Gonodal Dysgenesis-Deafness Syndrome Xx Gonodal Dysgenesis-Hearing Loss Syndrome Gonadal Dysgenesis Xx Type Deafness

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13565	SOHLH2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SOHLH2	RGD	RGD:1589577
Mus musculus	SOHLH2	MGD	MGI:1921684