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

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

SOHLH2 Protein Structure

HLH

HLH: Helix-loop-helix DNA-binding domain (206 - 252)

  • 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

Orthologs Information

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