Gene
tspeara
- ID
- ZDB-GENE-120215-12
- Name
- thrombospondin-type laminin G domain and EAR repeats a
- Symbol
- tspeara Nomenclature History
- Previous Names
-
- si:ch73-267f5.4
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to be involved in signal transduction. Predicted to be located in membrane. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 98 and ectodermal dysplasia 14. 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, hair/tooth type with or without hypohidrosis | 618180 |
| Tooth agenesis, selective, 10 | 620173 |
1 - 3 of 3
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Concanavalin A-like lectin/glucanase domain superfamily | EAR | Laminin G domain | Leucine-rich glioma-inactivated , EPTP repeat | Thrombospondin-like, N-terminal domain |
|---|---|---|---|---|---|---|
|
UniProtKB:E7EY40
|
676 |
1 - 1 of 1
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
tspeara-201
(1)
|
Ensembl | 2,031 nt | ||
| mRNA |
tspeara-202
(1)
|
Ensembl | 2,010 nt | ||
| mRNA |
tspeara-203
(1)
|
Ensembl | 2,013 nt | ||
| mRNA |
tspeara-204
(1)
|
Ensembl | 1,596 nt |
1 - 4 of 4
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-217D24 | ZFIN Curated Data |
1 - 1 of 1
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_693899 (1) | |||
| Genomic | GenBank:CR388009 (1) | 223237 nt | ||
| Polypeptide | UniProtKB:E7EY40 (1) | 676 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
- 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
1 - 3 of 3
Show