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HOXB13

From Wikipedia, the free encyclopedia

HOXB13
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesHOXB13, PSGD, homeobox B13, HPC9
External IDsOMIM: 604607; MGI: 107730; HomoloGene: 4640; GeneCards: HOXB13; OMA:HOXB13 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006361

NM_008267

RefSeq (protein)

NP_006352

NP_032293

Location (UCSC)Chr 17: 48.72 – 48.73 Mbn/a
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

Homeobox protein Hox-B13 is a protein that in humans is encoded by the HOXB13 gene.[4][5][6]

Function

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This gene encodes a transcription factor that belongs to the homeobox gene family. Genes of this family are highly conserved among vertebrates and essential for vertebrate embryonic development. This gene has been implicated in fetal skin development and cutaneous regeneration. In mice, a similar gene was shown to exhibit temporal and spatial colinearity in the main body axis of the embryo, but was not expressed in the secondary axes, which suggests functions in body patterning along the axis. This gene and other HOXB genes form a gene cluster on chromosome 17 in the 17q21.32 region.[6] Men who inherit a rare (<0.1% in a selected group of patients without clinical signs of prostate cancer) genetic variant in HOXB13 (G84E or rs138213197) have a 10-20-fold increased risk of prostate cancer.[7][8]

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000159184Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ Zeltser L, Desplan C, Heintz N (Aug 1996). "Hoxb-13: a new Hox gene in a distant region of the HOXB cluster maintains colinearity". Development. 122 (8): 2475–84. doi:10.1242/dev.122.8.2475. PMID 8756292.
  5. ^ Stelnicki EJ, Arbeit J, Cass DL, Saner C, Harrison M, Largman C (Jul 1998). "Modulation of the human homeobox genes PRX-2 and HOXB13 in scarless fetal wounds". The Journal of Investigative Dermatology. 111 (1): 57–63. doi:10.1046/j.1523-1747.1998.00238.x. PMID 9665387.
  6. ^ a b "Entrez Gene: HOXB13 homeobox B13".
  7. ^ Ewing CM, Ray AM, Lange EM, Zuhlke KA, Robbins CM, Tembe WD, Wiley KE, Isaacs SD, Johng D, Wang Y, Bizon C, Yan G, Gielzak M, Partin AW, Shanmugam V, Izatt T, Sinari S, Craig DW, Zheng SL, Walsh PC, Montie JE, Xu J, Carpten JD, Isaacs WB, Cooney KA (Jan 2012). "Germline mutations in HOXB13 and prostate-cancer risk". The New England Journal of Medicine. 366 (2): 141–9. doi:10.1056/NEJMoa1110000. PMC 3779870. PMID 22236224.
  8. ^ Dupont WD, Breyer J, Johnson SH, Plummer WD, Smith JR (May 2021). "Prostate cancer risk variants of the HOXB genetic locus". Scientific Reports. 11 (1): 11385. Bibcode:2021NatSR..1111385D. doi:10.1038/s41598-021-89399-7. PMC 8167119. PMID 34059701. S2CID 235269663.

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.