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

Gene ID: 100526761, updated on 22-Aug-2020

Summary

Official Symbol
CCDC169-SOHLH2provided by HGNC
Official Full Name
CCDC169-SOHLH2 readthroughprovided by HGNC
Primary source
HGNC:HGNC:38866
See related
Ensembl:ENSG00000250709
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

Genomic context

See CCDC169-SOHLH2 in Genome Data Viewer
Location:
13q13.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (36168217..36297814, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (36742345..36871992, 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 uncharacterized LOC107984604 Neighboring gene spermatogenesis and oogenesis specific basic helix-loop-helix 2 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 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

Phenotypes

Associated conditions

Description Tests
The genetic architecture of economic and political preferences.
GeneReviews: Not available

General gene information

Homology

Clone Names

  • FLJ57222, KIAA0369, KIAA0610

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)

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
    Consensus CDS
    CCDS55896.1
    UniProtKB/Swiss-Prot
    Q9NX45
    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: Homo sapiens Updated Annotation Release 109.20200815

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