Entry - *612610 - LATE CORNIFIED ENVELOPE PROTEIN 2B; LCE2B - OMIM

 
 
* 612610

LATE CORNIFIED ENVELOPE PROTEIN 2B; LCE2B


Alternative titles; symbols

LATE ENVELOPE PROTEIN 10; LEP10
XP5


HGNC Approved Gene Symbol: LCE2B

Cytogenetic location: 1q21.3     Genomic coordinates (GRCh38): 1:152,686,123-152,687,397 (from NCBI)


▼ TEXT

For background information on the LCE gene cluster, see 612603.

▼ Cloning and Expression

Using a selection cloning method to identify genes within the epidermal differentiation complex (EDC) on chromosome 1, Zhao and Elder (1997) identified LCE2B, which they called XP5. The deduced protein contains 110 amino acids. Northern blot analysis detected XP5 expression in normal and psoriatic skin, but not in other tissues and cell lines examined, including normal keratinocytes and dermal fibroblasts.

By database analysis to identify human orthologs of mouse genes encoding late envelope proteins (LEPs), Marshall et al. (2001) identified LCE2B, which they called LEP10. RT-PCR detected high LEP10 expression in skin.

Using real-time PCR, Jackson et al. (2005) detected LCE2B expression in human fetal, arm, penal, and abdominal skin. Little to no expression was detected in vulva, tongue, and esophagus.


▼ Gene Function

Jackson et al. (2005) showed that expression of LCE2 genes, including LCE2B, was upregulated in cultured normal human keratinocytes by both ultraviolet irradiation and calcium.


▼ Gene Structure

Jackson et al. (2005) determined that the LCE2B gene contains 2 exons. Exon 1 is noncoding.


▼ Mapping

Using FISH, Zhao and Elder (1997) mapped the LCE2B gene to chromosome 1q21. By genomic sequence analysis, Marshall et al. (2001) mapped the LCE2B gene within the LCE gene cluster on chromosome 1q21. Jackson et al. (2005) stated that the mouse Lce2b gene maps to a syntenic LCE gene cluster on chromosome 3F1.


▼ REFERENCES

  1. Jackson, B., Tilli, C. M. L. J., Hardman, M. J., Avilion, A. A., MacLeod, M. C., Ashcroft, G. S., Byrne, C. Late cornified envelope family in differentiating epithelia--response to calcium and ultraviolet irradiation. J. Invest. Derm. 124: 1062-1070, 2005. [PubMed: 15854049, related citations] [Full Text]

  2. Marshall, D., Hardman, M. J., Nield, K. M., Byrne, C. Differentially expressed late constituents of the epidermal cornified envelope. Proc. Nat. Acad. Sci. 98: 13031-13036, 2001. [PubMed: 11698679, images, related citations] [Full Text]

  3. Zhao, X. P., Elder, J. T. Positional cloning of novel skin-specific genes from the human epidermal differentiation complex. Genomics 45: 250-258, 1997. [PubMed: 9344646, related citations] [Full Text]


Creation Date:
Patricia A. Hartz : 2/11/2009
Edit History:
mgross : 02/12/2009
mgross : 2/12/2009

* 612610

LATE CORNIFIED ENVELOPE PROTEIN 2B; LCE2B


Alternative titles; symbols

LATE ENVELOPE PROTEIN 10; LEP10
XP5


HGNC Approved Gene Symbol: LCE2B

Cytogenetic location: 1q21.3     Genomic coordinates (GRCh38): 1:152,686,123-152,687,397 (from NCBI)


TEXT

For background information on the LCE gene cluster, see 612603.

Cloning and Expression

Using a selection cloning method to identify genes within the epidermal differentiation complex (EDC) on chromosome 1, Zhao and Elder (1997) identified LCE2B, which they called XP5. The deduced protein contains 110 amino acids. Northern blot analysis detected XP5 expression in normal and psoriatic skin, but not in other tissues and cell lines examined, including normal keratinocytes and dermal fibroblasts.

By database analysis to identify human orthologs of mouse genes encoding late envelope proteins (LEPs), Marshall et al. (2001) identified LCE2B, which they called LEP10. RT-PCR detected high LEP10 expression in skin.

Using real-time PCR, Jackson et al. (2005) detected LCE2B expression in human fetal, arm, penal, and abdominal skin. Little to no expression was detected in vulva, tongue, and esophagus.


Gene Function

Jackson et al. (2005) showed that expression of LCE2 genes, including LCE2B, was upregulated in cultured normal human keratinocytes by both ultraviolet irradiation and calcium.


Gene Structure

Jackson et al. (2005) determined that the LCE2B gene contains 2 exons. Exon 1 is noncoding.


Mapping

Using FISH, Zhao and Elder (1997) mapped the LCE2B gene to chromosome 1q21. By genomic sequence analysis, Marshall et al. (2001) mapped the LCE2B gene within the LCE gene cluster on chromosome 1q21. Jackson et al. (2005) stated that the mouse Lce2b gene maps to a syntenic LCE gene cluster on chromosome 3F1.


REFERENCES

  1. Jackson, B., Tilli, C. M. L. J., Hardman, M. J., Avilion, A. A., MacLeod, M. C., Ashcroft, G. S., Byrne, C. Late cornified envelope family in differentiating epithelia--response to calcium and ultraviolet irradiation. J. Invest. Derm. 124: 1062-1070, 2005. [PubMed: 15854049] [Full Text: https://doi.org/10.1111/j.0022-202X.2005.23699.x]

  2. Marshall, D., Hardman, M. J., Nield, K. M., Byrne, C. Differentially expressed late constituents of the epidermal cornified envelope. Proc. Nat. Acad. Sci. 98: 13031-13036, 2001. [PubMed: 11698679] [Full Text: https://doi.org/10.1073/pnas.231489198]

  3. Zhao, X. P., Elder, J. T. Positional cloning of novel skin-specific genes from the human epidermal differentiation complex. Genomics 45: 250-258, 1997. [PubMed: 9344646] [Full Text: https://doi.org/10.1006/geno.1997.4952]


Creation Date:
Patricia A. Hartz : 2/11/2009

Edit History:
mgross : 02/12/2009
mgross : 2/12/2009



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: June 11, 2024