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

    Gene ID: 54937, updated on 27-Nov-2024

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See SOHLH2 in Genome Data Viewer
    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_000013.11Genomic 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 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:36728605-36729169 Neighboring gene uncharacterized LOC107984604 Neighboring gene MPRA-validated peak2068 silencer Neighboring gene coiled-coil domain containing 169 Neighboring gene Sharpr-MPRA regulatory region 14903 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:36872540-36873502 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:36871578-36872539 Neighboring gene RNA, U6 small nuclear 71, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr13:36887598-36888362 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:36890200-36891034 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:36891035-36891868 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:36894061-36894764 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:36895467-36896169 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:36896170-36896871 Neighboring gene Sharpr-MPRA regulatory region 3304 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5263 Neighboring gene spartin Neighboring gene SPART antisense RNA 1

    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?

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Readthrough CCDC169-SOHLH2

    Readthrough gene: CCDC169-SOHLH2, Included gene: CCDC169

    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
     
    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

    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)

    NEW Try the new Transcript table

    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
      B4DX90, Q5EGC3, Q8TC74, Q96QX4, Q9NX45
      UniProtKB/TrEMBL
      A0A140VK50
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      35387717..35434075 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)