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

Gene ID: 54937, updated on 25-Jan-2022

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
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Genomic context

See SOHLH2 in Genome Data Viewer
Location:
13q13.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (36168217..36214556, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (36742354..36788693, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene doublecortin like kinase 1 Neighboring gene nuclear-encoded mitochondrial tRNA-Gln (TTG) 10-1 Neighboring gene CCDC169-SOHLH2 readthrough Neighboring gene uncharacterized LOC107984604 Neighboring gene coiled-coil domain containing 169 Neighboring gene RNA, U6 small nuclear 71, pseudogene Neighboring gene Sharpr-MPRA regulatory region 3304 Neighboring gene spartin

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Readthrough CCDC169-SOHLH2

Readthrough gene: CCDC169-SOHLH2, Included gene: CCDC169

Homology

Clone Names

  • FLJ20449, FLJ57222

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 

General protein information

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

  1. NG_033786.1 RefSeqGene

    Range
    5060..51399
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001282147.2NP_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
  2. NM_017826.3NP_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
    Q9NX45
    Related
    ENSP00000369210.3, ENST00000379881.8
    Conserved Domains (1) summary
    cd00083
    Location:197257
    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, ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    36168217..36214556 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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