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    CCDC169-SOHLH2 CCDC169-SOHLH2 readthrough [ Homo sapiens (human) ]

    Gene ID: 100526761, updated on 28-Oct-2024

    Summary

    Official Symbol
    CCDC169-SOHLH2provided by HGNC
    Official Full Name
    CCDC169-SOHLH2 readthroughprovided by HGNC
    Primary source
    HGNC:HGNC:38866
    See related
    Ensembl:ENSG00000250709 AllianceGenome:HGNC:38866
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TEB1; SOHLH2; C13orf38-SOHLH2
    Summary
    This locus represents naturally occurring read-through transcription between the neighboring C13orf38 (chromosome 13 open reading frame 38) and SOHLH2 (spermatogenesis and oogenesis specific basic helix-loop-helix 2) genes. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Nov 2010]
    Expression
    Restricted expression toward testis (RPKM 27.1) See more
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    Genomic context

    See CCDC169-SOHLH2 in Genome Data Viewer
    Location:
    13q13.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (36168217..36297814, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (35387717..35517321, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (36742354..36871951, 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 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:36728605-36729169 Neighboring gene uncharacterized LOC107984604 Neighboring gene MPRA-validated peak2068 silencer Neighboring gene spermatogenesis and oogenesis specific basic helix-loop-helix 2 Neighboring gene coiled-coil domain containing 169 Neighboring gene Sharpr-MPRA regulatory region 14903 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:36871578-36872539 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:36872540-36873502 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 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:36962882-36963065 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5264 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5265 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5266 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:37011626-37012825 Neighboring gene cyclin A1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    General protein information

    Preferred Names
    CCDC169-SOHLH2 protein
    Names
    C13orf38-SOHLH2 readthrough
    Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2

    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.

    mRNA and Protein(s)

    1. NM_001198910.2NP_001185839.1  CCDC169-SOHLH2 protein

      See identical proteins and their annotated locations for NP_001185839.1

      Status: VALIDATED

      Source sequence(s)
      AK301863, AL160392
      UniProtKB/TrEMBL
      A0A140VK50
      Related
      ENSP00000421868.1, ENST00000511166.1
      Conserved Domains (2) summary
      cd00083
      Location:283334
      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, ...
      pfam15372
      Location:681
      DUF4600; Domain of unknown function (DUF4600)

    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..36297814 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      35387717..35517321 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)