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

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

Location:: 13q13.3

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (36168217..36297814, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (35387717..35517321, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (36742354..36871951, complement)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

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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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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General protein information

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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)

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)