U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 100526761, updated on 2-Nov-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Bibliography

Go to the top of the pageHelp

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

Go to the top of the page Help

See Variation Viewer (GRCh37.p13)

General gene information

Go to the top of the page Help

Homology

Clone Names

  • FLJ57222, KIAA0369, KIAA0610

General protein information

Go to the top of the page Help
Preferred Names
CCDC169-SOHLH2 protein
Names
C13orf38-SOHLH2 readthrough
Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.

mRNA and Protein(s)

  1. NM_001198910.2 → NP_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:283 → 334
    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:6 → 81
    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)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials