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

Homo sapiens

Also known as TEB1; SOSF2; SPATA28; bHLHe81

Gene ID: 54937 | Gene type: protein coding

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	Reference	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

Bioactive Molecules (1)

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

Orthologs Information

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

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