Gene
pmp22a
- ID
- ZDB-GENE-030131-6757
- Name
- peripheral myelin protein 22a
- Symbol
- pmp22a Nomenclature History
- Previous Names
-
- pmp22
- wu:fa04d03
- wu:fa08d03
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to be located in several cellular components, including Golgi membrane; apical plasma membrane; and membrane raft. Predicted to be active in plasma membrane. Is expressed in head mesenchyme; myotome; pectoral fin; pharyngeal arch; and somite. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease (multiple); Guillain-Barre syndrome; and hereditary neuropathy with liability to pressure palsies. Orthologous to human PMP22 (peripheral myelin protein 22).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:77801 (14 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
No data available
No data available
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Charcot-Marie-Tooth disease type 1A | Alliance | Charcot-Marie-Tooth disease, type 1A | 118220 |
Charcot-Marie-Tooth disease type 1E | Alliance | Charcot-Marie-Tooth disease, type 1E | 118300 |
Charcot-Marie-Tooth disease type 3 | Alliance | Dejerine-Sottas disease | 145900 |
Guillain-Barre syndrome | Alliance | ?Neuropathy, inflammatory demyelinating | 139393 |
hereditary neuropathy with liability to pressure palsies | Alliance | Neuropathy, recurrent, with pressure palsies | 162500 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | Peripheral myelin protein 22/Epithelial membrane protein-like | PMP-22/EMP/MP20 | PMP-22/EMP/MP20/Claudin |
---|---|---|---|---|---|
UniProtKB:A0A8M2BBU0 | InterPro | 169 | |||
UniProtKB:Q6P608 | InterPro | 157 |
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Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
pmp22a-201
(1)
|
Ensembl | 566 nt | ||
mRNA |
pmp22a-202
(1)
|
Ensembl | 1,183 nt | ||
mRNA |
pmp22a-203
(1)
|
Ensembl | 1,003 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | DKEY-67K15 | ZFIN Curated Data | |
Encodes | EST | fa04d03 | ||
Encodes | EST | fa08d03 | ZFIN Curated Data | |
Encodes | cDNA | MGC:77801 | ZFIN Curated Data | |
Encodes | cDNA | MGC:174475 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_201311 (1) | 1209 nt | ||
Genomic | GenBank:CR848051 (1) | 131370 nt | ||
Polypeptide | UniProtKB:A0A8M2BBU0 (1) | 169 aa |
- Vöcking, O., Famulski, J.K. (2023) A temporal single cell transcriptome atlas of zebrafish anterior segment development. Scientific Reports. 13:56565656
- Lu, S., Lyu, Z., Wang, Z., Kou, Y., Liu, C., Li, S., Hu, M., Zhu, H., Wang, W., Zhang, C., Kuan, Y.S., Liu, Y.W., Chen, J., Tian, J. (2021) Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish. Theranostics. 11:2788-2805
- Won, S.Y., Kwon, S., Jeong, H.S., Chung, K.W., Choi, B.O., Chang, J.W., Lee, J.E. (2020) Fibulin 5, a human Wharton's jelly-derived mesenchymal stem cells-secreted paracrine factor, attenuates peripheral nervous system myelination defects through the Integrin-RAC1 signaling axis. Stem cells (Dayton, Ohio). 38(12):1578-93
- Nagarajan, B., Harder, A., Japp, A., Häberlein, F., Mingardo, E., Kleinert, H., Yilmaz, Ö., Zoons, A., Rau, B., Christ, A., Kubitscheck, U., Eiberger, B., Sandhoff, R., Eckhardt, M., Hartmann, D., Odermatt, B. (2019) CNS myelin protein 36K regulates oligodendrocyte differentiation through Notch. Glia. 68(3):509-527
- Liu, H., Wang, X., Wu, Y., Hou, J., Zhang, S., Zhou, N., Wang, X. (2018) Toxicity responses of different organs of zebrafish (Danio rerio) to silver nanoparticles with different particle sizes and surface coatings. Environmental pollution (Barking, Essex : 1987). 246:414-422
- Tae, H.J., Rahman, M.M., Park, B.Y. (2015) Temporal and spatial expression analysis of peripheral myelin protein 22 (Pmp22) in developing Xenopus. Gene expression patterns : GEP. 17(1):26-30
- Boczonadi, V., Müller, J.S., Pyle, A., Munkley, J., Dor, T., Quartararo, J., Ferrero, I., Karcagi, V., Giunta, M., Polvikoski, T., Birchall, D., Princzinger, A., Cinnamon, Y., Lützkendorf, S., Piko, H., Reza, M., Florez, L., Santibanez-Koref, M., Griffin, H., Schuelke, M., Elpeleg, O., Kalaydjieva, L., Lochmüller, H., Elliott, D.J., Chinnery, P.F., Edvardson, S., Horvath, R. (2014) EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. Nature communications. 5:4287
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
- Woods, I.G., Kelly, P.D., Chu, F., Ngo-Hazelett, P., Yan, Y.-L., Huang, H., Postlethwait, J.H., and Talbot, W.S. (2000) A comparative map of the zebrafish genome. Genome research. 10(12):1903-1914
- Wulf, P., Bernhardt, R.R., and Suter, U. (1999) Characterization of peripheral myelin protein 22 in zebrafish (zPMP22) suggests an early role in the development of the peripheral nervous system. Journal of neuroscience research. 57(4):467-478
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