TEX15 testis expressed 15, meiosis and synapsis associated [Homo sapiens (human)] - Gene

Summary

Official Symbol: TEX15provided by HGNC
Official Full Name: testis expressed 15, meiosis and synapsis associatedprovided by HGNC
Primary source: HGNC:HGNC:11738
See related: Ensembl:ENSG00000133863 MIM:605795; AllianceGenome:HGNC:11738
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: CT42; SPGF25
Summary: This gene encodes a protein that is required for DNA double-strand break repair, chromosome synapsis, and meiotic recombination in spermatocytes. Male mice with a knockout of the orthologous gene are viable but sterile. Loss-of-function mutations in the orthologous mouse gene cause early meiotic arrest in spermatocytes, before the mid-pachytene stage. Naturally occurring mutations in this gene are associated with nonobstructive azoospermia. [provided by RefSeq, Apr 2017]
Expression: Biased expression in testis (RPKM 7.9) and endometrium (RPKM 3.5) See more
Orthologs: mouse all
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Genomic context

Location:: 8p12

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (30831544..30913008, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (31112556..31194025, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (30689060..30770524, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

This result suggests that regular expression of TEX11, TEX12, TEX14 and TEX15 is essential for the early stages of spermatogenesis.
Title: Expression analysis of genes encoding TEX11, TEX12, TEX14 and TEX15 in testis tissues of men with non-obstructive azoospermia.
TEX15 could become a clinical marker for detection of nonobstructive azoospermia or cryptozoospermia--{CASE REPORT}
Title: Case study of a patient with cryptozoospermia associated with a recessive TEX15 nonsense mutation.
Our results indicate a potential role in breast cancer predisposition for heterozygous truncating mutations in FANCD2 and TEX15. Based on our results, FANCD2 c.2715 + 1G > A might act as a moderate breast cancer risk allele, adding FANCD2 to the list of shared genes between FA and breast cancer.
Title: Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility.
In Han Chinese, the rare variant, Q1631H in DNA repair gene, TEX15, is associated with prostate cancer risk.
Title: TEX15: A DNA repair gene associated with prostate cancer risk in Han Chinese.
Data identified nonsense mutation in TEX15 gene co-segregating with the infertility phenotype, as the cause of spermatogenic defects.
Title: Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family.
the polymorphisms rs323346 and rs323347 of the TEX15 gene could be considered the genetic risk factors for spermatogenic failure in the Chinese Han population
Title: Genetic variants in TEX15 gene conferred susceptibility to spermatogenic failure in the Chinese Han population.
Observational study of gene-disease association. (HuGE Navigator)
Title: Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent.

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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

Associated conditions

Description	Tests
Spermatogenic failure 25 MedGen: C4693765 OMIM: 617960 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G65776 (e-PCR)
- UniSTS:225921

RH118489 (e-PCR)
- UniSTS:137884

SHGC-106564 (e-PCR)
- UniSTS:169924

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
acts_upstream_of_or_within_positive_effect DNA methylation-dependent heterochromatin formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in male meiotic nuclear division	IBA Inferred from Biological aspect of Ancestor more info
NOT involved_in piRNA processing	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of double-strand break repair via homologous recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in retrotransposon silencing	ISS Inferred from Sequence or Structural Similarity more info
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info
involved_in synaptonemal complex assembly	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: testis-expressed protein 15

Names: cancer/testis antigen 42; testis-expressed sequence 15 protein

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.

Genomic

NG_053141.1 RefSeqGene

Range

5005..86469

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001350162.2 → NP_001337091.1 testis-expressed protein 15

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the functional protein.

Source sequence(s)

AC090281, AF285605, AL133653, BC141841

Consensus CDS

CCDS87593.1

UniProtKB/TrEMBL

A0A1W2PS94, A0A2R8Y358

Related

ENSP00000493555.1, ENST00000643185.2

Conserved Domains (2) summary

pfam12509
Location:103 → 250

DUF3715; Protein of unknown function (DUF3715)

pfam15326
Location:1921 → 2153

TEX15; Testis expressed sequence 15

RNA

NR_146525.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate 5' and 3' exon structure, compared to variant 1. This variant is represented as non-coding because the polyadenylated site occurs disrupts the open reading frame, suggesting that the transcript may be a candidate for non-stop decay.

Source sequence(s)

AC090281, BC141841