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Testis expressed 15

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
TEX15
Identifiers
AliasesTEX15, CT42, testis expressed 15, testis expressed 15, meiosis and synapsis associated, SPGF25
External IDsOMIM:605795;MGI:1934816;HomoloGene:12837;GeneCards:TEX15;OMA:TEX15 - orthologs
Gene location (Human)
Chromosome 8 (human)
Chr.Chromosome 8 (human)[1]
Chromosome 8 (human)
Genomic location for TEX15
Genomic location for TEX15
Band8p12Start30,831,544bp[1]
End30,913,008bp[1]
Gene location (Mouse)
Chromosome 8 (mouse)
Chr.Chromosome 8 (mouse)[2]
Chromosome 8 (mouse)
Genomic location for TEX15
Genomic location for TEX15
Band8|8 A4Start34,006,766bp[2]
End34,075,610bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • testicle

  • sperm

  • secondary oocyte

  • gonad

  • right testis

  • left testis

  • body of uterus

  • smooth muscle tissue

  • ventricular zone

  • ganglionic eminence
Top expressed in
  • spermatid

  • lacrimal gland

  • parotid gland

  • cumulus cell

  • Gonadal ridge

  • seminiferous tubule

  • zygote

  • olfactory epithelium

  • secondary oocyte

  • primary oocyte
More reference expression data
BioGPS
n/a
Orthologs
SpeciesHumanMouse
Entrez

56154

104271

Ensembl

ENSG00000133863

ENSMUSG00000009628

UniProt

Q9BXT5

F8VPN2

RefSeq (mRNA)

NM_001350162

NM_031374

RefSeq (protein)

NP_001337091

NP_113551

Location (UCSC)Chr 8: 30.83 – 30.91 MbChr 8: 34.01 – 34.08 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Testis expressed 15 is aprotein that in humans is encoded by the TEX15gene.[5]

TheTEX15 gene displaystestis-specific expression, maps to chromosome 8, contains fourexons and encodes a 2789-amino acid protein.[6] TheTEX15 gene encodes aDNA damage response factor important inmeiosis. TEX15 is also a nuclear effector of the mammalian piRNA pathway, required for silencing of transposable elements within the developing germline.[7]

Animal studies

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In mice, disruption of an ortholog of theTEX15 gene caused a drastic reduction in testis size and meiotic arrest in males.[8] TEX15, in mice, is required forchromosomesynapsis, meiotic recombination andDNA double-strand break repair.[8] Furthermore, TEX15 regulates the loading of recombination proteins (RAD51 andDMC1) onto sites of DNA double-strand breaks, and its absence causes a failure of meiotic recombination.

Clinical significance

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Amutation in theTEX15 gene was found to be associated withmale infertility and meiotic maturation arrest.[6]

Truncation variants of TEX15 are also potentialbreast cancer risk factors.[9]

References

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  1. ^abcGRCh38: Ensembl release 89: ENSG00000133863Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000009628Ensembl, May 2017
  3. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^"Entrez Gene: Testis expressed 15".
  6. ^abOkutman O, Muller J, Baert Y, Serdarogullari M, Gultomruk M, Piton A, Rombaut C, Benkhalifa M, Teletin M, Skory V, Bakircioglu E, Goossens E, Bahceci M, Viville S (October 2015)."Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family".Human Molecular Genetics.24 (19):5581–8.doi:10.1093/hmg/ddv290.PMID 26199321.
  7. ^Schöpp T, Zoch A, Berrens RV, Auchynnikava T, Kabayama Y, Vasiliauskaitė L, Rappsilber J, Allshire RC, O'Carroll D (July 2020)."TEX15 is an essential executor of MIWI2-directed transposon DNA methylation and silencing"(PDF).Nature Communications.11 (1): 3739.doi:10.1038/s41467-020-17372-5.PMID 32620888.
  8. ^abYang F, Eckardt S, Leu NA, McLaughlin KJ, Wang PJ (February 2008)."Mouse TEX15 is essential for DNA double-strand break repair and chromosomal synapsis during male meiosis".The Journal of Cell Biology.180 (4):673–9.doi:10.1083/jcb.200709057.PMC 2265566.PMID 18283110.
  9. ^Mantere T, Tervasmäki A, Nurmi A, Rapakko K, Kauppila S, Tang J, Schleutker J, Kallioniemi A, Hartikainen JM, Mannermaa A, Nieminen P, Hanhisalo R, Lehto S, Suvanto M, Grip M, Jukkola-Vuorinen A, Tengström M, Auvinen P, Kvist A, Borg Å, Blomqvist C, Aittomäki K, Greenberg RA, Winqvist R, Nevanlinna H, Pylkäs K (April 2017)."Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility".Scientific Reports.7 (1): 681.Bibcode:2017NatSR...7..681M.doi:10.1038/s41598-017-00766-9.PMC 5429682.PMID 28386063.

Further reading

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