Gene
hspb8
- ID
- ZDB-GENE-030131-2480
- Name
- heat shock protein b8
- Symbol
- hspb8 Nomenclature History
- Previous Names
-
- fc09c11
- wu:fc04b04
- wu:fc09c11
- zgc:64202
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable protein homodimerization activity. Predicted to be involved in cellular response to unfolded protein. Predicted to be part of protein folding chaperone complex. Predicted to be active in cytoplasm and nucleus. Is expressed in several structures, including cephalic musculature; immature eye; midbrain hindbrain boundary neural rod; nervous system; and pericardial region. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2L; autosomal dominant distal hereditary motor neuronopathy 2; and myofibrillar myopathy 13 with rimmed vacuoles. Orthologous to human HSPB8 (heat shock protein family B (small) member 8).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa20369 | Allele with one point mutation | Unknown | Splice Site | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-hspb8 | N/A | Dubińska-Magiera et al., 2020 |
| MO2-hspb8 | N/A | Dubińska-Magiera et al., 2020 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant distal hereditary motor neuronopathy 2 | Alliance | Neuronopathy, distal hereditary motor, autosomal dominant 2 | 158590 |
| Charcot-Marie-Tooth disease axonal type 2L | Alliance | Charcot-Marie-Tooth disease, axonal, type 2L | 608673 |
| myofibrillar myopathy 13 with rimmed vacuoles | Alliance | Myopathy, myofibrillar, 13, with rimmed vacuoles | 621078 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR002068 | Alpha crystallin/Hsp20 domain |
| Domain | IPR042790 | Heat shock protein beta-8, alpha-crystallin domain (ACD) |
| Family | IPR001436 | Alpha crystallin/Small heat shock protein, animal type |
| Family | IPR043254 | Heat shock protein beta-8 |
| Homologous_superfamily | IPR008978 | HSP20-like chaperone |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Alpha crystallin/Hsp20 domain | Alpha crystallin/Small heat shock protein, animal type | Heat shock protein beta-8 | Heat shock protein beta-8, alpha-crystallin domain (ACD) | HSP20-like chaperone |
|---|---|---|---|---|---|---|---|
| UniProtKB:Q6PFS1 | InterPro | 216 |
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Interactions and Pathways
No data available
Plasmids
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-1K23 | ZFIN Curated Data | |
| Encodes | EST | fc04b04 | ZFIN Curated Data | |
| Encodes | EST | fc09c11 | ||
| Encodes | cDNA | MGC:64202 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001100957 (1) | 3110 nt | ||
| Genomic | GenBank:BX649391 (1) | 133337 nt | ||
| Polypeptide | UniProtKB:Q6PFS1 (1) | 216 aa |
- Dubińska-Magiera, M., Niedbalska-Tarnowska, J., Migocka-Patrzałek, M., Posyniak, E., Daczewska, M. (2020) Characterization of Hspb8 in Zebrafish. Cells. 9(6):
- Gong, L., Zhang, Q., Pan, X., Chen, S., Yang, L., Liu, B., Yang, W., Yu, L., Xiao, Z.X., Feng, X.H., Wang, H., Yuan, Z.M., Peng, J., Tan, W.Q., Chen, J. (2019) p53 Protects Cells from Death at the Heatstroke Threshold Temperature. Cell Reports. 29:3693-3707.e5
- Mercer, E.J., Lin, Y.F., Cohen-Gould, L., Evans, T. (2018) Hspb7 is a Cardioprotective Chaperone Facilitating Sarcomeric Proteostasis. Developmental Biology. 435(1):41-55
- Marvin, M., O'Rourke, D., Kurihara, T., Juliano, C.E., Harrison, K.L., and Hutson, L.D. (2008) Developmental expression patterns of the zebrafish small heat shock proteins. Developmental Dynamics : an official publication of the American Association of Anatomists. 237(2):454-463
- Elicker, K.S., and Hutson, L.D. (2007) Genome-wide analysis and expression profiling of the small heat shock proteins in zebrafish. Gene. 403(1-2):60-69
- 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
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