Gene
tspearb
- ID
- ZDB-GENE-030131-4270
- Name
- thrombospondin-type laminin G domain and EAR repeats b
- Symbol
- tspearb Nomenclature History
- Previous Names
-
- tspear
- fc86e12
- si:ch211-244a17.4 (1)
- wu:fc86e12
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Acts upstream of or within bone morphogenesis and regulation of odontogenesis. Predicted to be located in stereocilium. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 98; ectodermal dysplasia 14; and tooth agenesis. Orthologous to human TSPEAR (thrombospondin type laminin G domain and EAR repeats).
- 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
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
autosomal recessive nonsyndromic deafness 98 | Alliance | ?Deafness, autosomal recessive 98 | 614861 |
ectodermal dysplasia 14 | Alliance | Ectodermal dysplasia 14, hypohidrotic/hair/tooth/nail type | 618180 |
Tooth agenesis, selective, 10 | 620173 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | Concanavalin A-like lectin/glucanase domain superfamily | EAR | Leucine-rich glioma-inactivated , EPTP repeat | Thrombospondin-like, N-terminal domain |
---|---|---|---|---|---|---|
UniProtKB:E7F9F5 | InterPro | 666 |
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Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
tspearb-201
(1)
|
Ensembl | 5,043 nt | ||
mRNA |
tspearb-202
(1)
|
Ensembl | 2,234 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 | CH211-244A17 | ZFIN Curated Data | |
Encodes | EST | fc86e12 |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:XM_677678 (1) | 3556 nt | ||
Genomic | GenBank:BX511126 (1) | 156247 nt | ||
Polypeptide | UniProtKB:E7F9F5 (1) | 666 aa |
- Jackson, A., Lin, S.J., Jones, E.A., Chandler, K.E., Orr, D., Moss, C., Haider, Z., Ryan, G., Holden, S., Harrison, M., Burrows, N., Jones, W.D., Loveless, M., Petree, C., Stewart, H., Low, K., Donnelly, D., Lovell, S., Drosou, K., Genomics England Research Consortium, Solve-RD consortium, Varshney, G.K., Banka, S. (2023) Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14. HGG advances. 4:100186100186
- 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
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