Gene
plecb
- ID
- ZDB-GENE-100917-2
- Name
- plectin b
- Symbol
- plecb Nomenclature History
- Previous Names
-
- si:ch211-24c14.1 (1)
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to have ankyrin binding activity and structural molecule activity. Involved in locomotory behavior; myofibril assembly; and skeletal muscle tissue development. Predicted to colocalize with intermediate filament. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2Q; epidermolysis bullosa simplex; epidermolysis bullosa simplex Ogna type; and epidermolysis bullosa simplex with muscular dystrophy. Orthologous to human PLEC (plectin).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Bührdel et al., 2015
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
ct110bGt | Transgenic insertion | Unknown | Unknown | DNA | |
la027789Tg | Transgenic insertion | Unknown | Unknown | DNA | |
sa12243 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa14270 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa14343 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa15190 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa16747 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa28576 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa36029 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa36030 | Allele with one point mutation | Unknown | Premature Stop | ENU |
1 - 10 of 14
Show
Targeting Reagent | Created Alleles | Citations |
---|---|---|
CRISPR1-plecb | Giera et al., 2018 | |
MO1-plecb | N/A | (2) |
1 - 2 of 2
Show
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
autosomal recessive limb-girdle muscular dystrophy type 2Q | Alliance | Muscular dystrophy, limb-girdle, autosomal recessive 17 | 613723 |
epidermolysis bullosa simplex Ogna type | Alliance | Epidermolysis bullosa simplex 5A, Ogna type | 131950 |
epidermolysis bullosa simplex with muscular dystrophy | Alliance | Epidermolysis bullosa simplex 5B, with muscular dystrophy | 226670 |
Epidermolysis bullosa simplex 5C, with pyloric atresia | 612138 | ||
?Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive | 616487 |
1 - 5 of 5
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Actinin-type actin-binding domain, conserved site | Calponin homology domain | CH domain superfamily | Desmoplakin, SH3 domain | Desmoplakin, spectrin-like domain | Plakin | Plakin repeat superfamily | Plectin/eS10, N-terminal | Plectin-like, spectrin-like repeat | Plectin repeat | SH3 domain | Spectrin/alpha-actinin | Spectrin repeat | Winged helix-like DNA-binding domain superfamily |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M9PDF4
|
4519 | ||||||||||||||
UniProtKB:A0A8M9PDE5
|
4483 | ||||||||||||||
UniProtKB:A0A8M9NZI8
|
4499 | ||||||||||||||
UniProtKB:A0A8M9PDD2
|
5897 | ||||||||||||||
UniProtKB:A0A8M9P867
|
4507 |
1 - 5 of 32 Show all
Interactions and Pathways
No data available
Plasmids
No data available
No data available
Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | CH211-24C14 | ZFIN Curated Data | |
Contained in | BAC | CH211-151O1 | ZFIN Curated Data | |
Contained in | BAC | DKEY-283B15 | ZFIN Curated Data |
1 - 3 of 3
Show
Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:XM_021466814 (1) | 19773 nt | ||
Genomic | GenBank:CR848788 (2) | 189441 nt | ||
Polypeptide | UniProtKB:A0A8M9PDC8 (1) | 5908 aa |
- Zhang, T., Xu, Z., Zheng, D., Wang, X., He, J., Zhang, L., Zallocchi, M. (2023) Novel biallelic variants in the PLEC gene are associated with severe hearing loss. Hearing Research. 436:108831108831
- Giera, S., Luo, R., Ying, Y., Ackerman, S.D., Jeong, S.J., Stoveken, H.M., Folts, C.J., Welsh, C.A., Tall, G.G., Stevens, B., Monk, K.R., Piao, X. (2018) Microglial transglutaminase-2 drives myelination and myelin repair via GPR56/ADGRG1 in oligodendrocyte precursor cells. eLIFE. 7
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Fukuda, R., Gunawan, F., Beisaw, A., Jimenez-Amilburu, V., Maischein, H.M., Kostin, S., Kawakami, K., Stainier, D.Y. (2017) Proteolysis regulates cardiomyocyte maturation and tissue integration. Nature communications. 8:14495
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
- Bührdel, J.B., Hirth, S., Keßler, M., Westphal, S., Forster, M., Manta, L., Wiche, G., Schoser, B., Schessl, J., Schröder, R., Clemen, C.S., Eichinger, L., Fürst, D.O., van der Ven, P.F., Rottbauer, W., Just, S. (2015) In vivo characterization of human myofibrillar myopathy genes in zebrafish. Biochemical and Biophysical Research Communications. 461(2):217-23
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Balciuniene, J., Nagelberg, D., Walsh, K., Camerota, D., Georlette, D., Biemar, F., Bellipanni, G., and Balciunas, D. (2013) Efficient disruption of Zebrafish genes using a Gal4-containing gene trap. BMC Genomics. 14(1):619
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- Trinh, A., Hochgreb, T., Graham, M., Wu, D., Ruf-Zamojski, F., Jayasena, C.S., Saxena, A., Hawk, R., Gonzalez-Serricchio, A., Dixson, A., Chow, E., Gonzales, C., Leung, H.Y., Solomon, I., Bronner-Fraser, M., Megason, S.G., and Fraser, S.E. (2011) A versatile gene trap to visualize and interrogate the function of the vertebrate proteome. Genes & Development. 25(21):2306-20
1 - 10 of 11
Show