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Gene Review:

EMP3 - epithelial membrane protein 3

Homo sapiens

Synonyms: EMP-3, Epithelial membrane protein 3, HNMP-1, Hematopoietic neural membrane protein 1, Protein YMP, ...

Bolin, L.M. et al., Taylor, V. et al., Alaminos, M. et al., Li, K.K. et al., Leal, A. et al., et al.

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Disease relevance of EMP3

Screening a large collection of human primary neuroblastomas (n = 116) and gliomas (n = 41), we observed that EMP3 CpG island hypermethylation was present in 24% and 39% of these tumor types, respectively [1].
Thus, EMP3 is a good candidate for being the long-sought tumor suppressor gene located at 19q13 in gliomas and neuroblastomas [1].

High impact information on EMP3

The epithelial membrane protein 3 gene, encoding a PMP22 homologous protein and located on 19q13.3, was ruled out as being responsible for this form of CMT [2].
In the mouse nervous system, HNMP-1 mRNA is temporally expressed by Schwann cells during sciatic nerve myelination [3].
Dorsal root ganglia sensory and spinal cord alpha-motoneurons acquire HNMP-1 protein selectively throughout development [3].
HNMP-1 is constituitively induced in sciatic nerve of Trembler J mice, which are mutant for pmp22 and have a demyelinating/hypomyelinating phenotype [3].
H4(b) is a consequence of a P3 threonine to isoleucine change in the MHC-bound peptide derived from epithelial membrane protein-3 [4].

Biological context of EMP3

EMP3 overexpression is associated with oligodendroglial tumors retaining chromosome arms 1p and 19q [5].
The methylation status of EMP3 was evaluated by bisulfite sequencing in 29 OTs with diverse expression levels [5].

Anatomical context of EMP3

The levels of EMP-3 transcripts are highest in peripheral blood leukocytes, ovary, intestine and various embryonic tissues [6].
In the fiber tracts of the spinal cord and in sciatic nerve, HNMP-1 protein is axon-associated [3].

Other interactions of EMP3

In vitro transcription-translation generates EMP-2 and EMP-3 polypeptides of 18 kDa which is in agreement with their predicted sizes [6].
Epithelial membrane protein-2 and epithelial membrane protein-3: two novel members of the peripheral myelin protein 22 gene family [6].

Analytical, diagnostic and therapeutic context of EMP3

We first investigated the transcript level of EMP3 in a cohort of 57 OTs by quantitative real-time RT-PCR [5].

References

EMP3, a myelin-related gene located in the critical 19q13.3 region, is epigenetically silenced and exhibits features of a candidate tumor suppressor in glioma and neuroblastoma. Alaminos, M., Dávalos, V., Ropero, S., Setién, F., Paz, M.F., Herranz, M., Fraga, M.F., Mora, J., Cheung, N.K., Gerald, W.L., Esteller, M. Cancer Res. (2005) [Pubmed]
A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3. Leal, A., Morera, B., Del Valle G, n.u.l.l., Heuss, D., Kayser, C., Berghoff, M., Villegas, R., Hernández, E., Méndez, M., Hennies, H.C., Neundörfer, B., Barrantes, R., Reis, A., Rautenstrauss, B. Am. J. Hum. Genet. (2001) [Pubmed]
HNMP-1: a novel hematopoietic and neural membrane protein differentially regulated in neural development and injury. Bolin, L.M., McNeil, T., Lucian, L.A., DeVaux, B., Franz-Bacon, K., Gorman, D.M., Zurawski, S., Murray, R., McClanahan, T.K. J. Neurosci. (1997) [Pubmed]
The H4b minor histocompatibility antigen is caused by a combination of genetically determined and posttranslational modifications. Yadav, R., Yoshimura, Y., Boesteanu, A., Christianson, G.J., Ajayi, W.U., Shashidharamurthy, R., Stanic, A.K., Roopenian, D.C., Joyce, S. J. Immunol. (2003) [Pubmed]
EMP3 overexpression is associated with oligodendroglial tumors retaining chromosome arms 1p and 19q. Li, K.K., Pang, J.C., Chung, N.Y., Ng, Y.L., Chan, N.H., Zhou, L., Poon, W.S., Ng, H.K. Int. J. Cancer (2007) [Pubmed]
Epithelial membrane protein-2 and epithelial membrane protein-3: two novel members of the peripheral myelin protein 22 gene family. Taylor, V., Suter, U. Gene (1996) [Pubmed]

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