Gene
shox
- ID
- ZDB-GENE-051030-21
- Name
- shox homeobox
- Symbol
- shox Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Acts upstream of or within bone mineralization; cell population proliferation; and pectoral fin development. Predicted to be active in nucleus. Is expressed in several structures, including digestive system; nervous system; pericardial region; pharyngeal arch; and pleuroperitoneal region. Used to study Werner syndrome. Human ortholog(s) of this gene implicated in Leri-Weill dyschondrosteosis and SHOX-related short stature. Orthologous to human SHOX (SHOX homeobox).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Leri-Weill dyschondrosteosis | Alliance | Leri-Weill dyschondrosteosis | 127300 |
| SHOX-related short stature | Alliance | Short stature, idiopathic familial | 300582 |
| Langer mesomelic dysplasia | 249700 |
1 - 3 of 3
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Werner syndrome | shoxsa41471/sa41471 | standard conditions | Tian et al., 2022 |
1 - 1 of 1
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Helix-turn-helix motif | Homedomain-like superfamily | Homeobox, conserved site | Homeodomain | OAR domain | Paired homeobox Bicoid subfamily |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M2BFC1 | InterPro | 304 | ||||||
| UniProtKB:B0S5T0 | InterPro | 285 |
1 - 2 of 2
Interactions and Pathways
No data available
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(shox-Mmu.Fos:GFP) |
|
| 1 | Lin et al., 2016 |
1 - 1 of 1
Show
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-134K13 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:123182 | ZFIN Curated Data |
1 - 2 of 2
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001126411 (1) | 1072 nt | ||
| Genomic | GenBank:BX294669 (2) | 180734 nt | ||
| Polypeptide | UniProtKB:A0A8M2BFC1 (1) | 304 aa |
- Martin, K.E., Ravisankar, P., Beerens, M., MacRae, C.A., Waxman, J.S. (2023) Nr2f1a maintains atrial nkx2.5 expression to repress pacemaker identity within venous atrial cardiomyocytes of zebrafish. eLIFE. 12:
- Tian, Y., Wang, W., Lautrup, S., Zhao, H., Li, X., Law, P.W.N., Dinh, N.D., Fang, E.F., Cheung, H.H., Chan, W.Y. (2022) WRN promotes bone development and growth by unwinding SHOX-G-quadruplexes via its helicase activity in Werner Syndrome. Nature communications. 13:5456
- Hoffmann, S., Roeth, R., Diebold, S., Gogel, J., Hassel, D., Just, S., Rappold, G.A. (2021) Identification and Tissue-Specific Characterization of Novel SHOX-Regulated Genes in Zebrafish Highlights SOX Family Members Among Other Genes. Frontiers in genetics. 12:688808
- Askary, A., Xu, P., Barske, L., Bay, M., Bump, P., Balczerski, B., Bonaguidi, M.A., Crump, J.G. (2017) Genome-wide analysis of facial skeletal regionalization in zebrafish. Development (Cambridge, England). 144(16):2994-3005
- Yokokura, T., Kamei, H., Shibano, T., Yamanaka, D., Sawada-Yamaguchi, R., Hakuno, F., Takahashi, S.I., Shimizu, T. (2017) The Short-Stature Homeobox-Containing Gene (shox/SHOX) Is Required for the Regulation of Cell Proliferation and Bone Differentiation in Zebrafish Embryo and Human Mesenchymal Stem Cells.. Frontiers in endocrinology. 8:125
- Lin, Q., Fan, S., Zhang, Y., Xu, M., Zhang, H., Yang, Y., Lee, A.P., Woltering, J.M., Ravi, V., Gunter, H.M., Luo, W., Gao, Z., Lim, Z.W., Qin, G., Schneider, R.F., Wang, X., Xiong, P., Li, G., Wang, K., Min, J., Zhang, C., Qiu, Y., Bai, J., He, W., Bian, C., Zhang, X., Shan, D., Qu, H., Sun, Y., Gao, Q., Huang, L., Shi, Q., Meyer, A., Venkatesh, B. (2016) The seahorse genome and the evolution of its specialized morphology. Nature. 540:395-399
- Montalbano, A., Juergensen, L., Roeth, R., Weiss, B., Fukami, M., Fricke-Otto, S., Binder, G., Ogata, T., Decker, E., Nuernberg, G., Hassel, D., Rappold, G.A. (2016) Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency. EMBO Molecular Medicine. 8(12):1455-1469
- Poon, K.L., Liebling, M., Kondrychyn, I., Brand, T., Korzh, V. (2016) Development of the cardiac conduction system in zebrafish. Gene expression patterns : GEP. 21(2):89-96
- 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
- Sawada, R., Kamei, H., Hakuno, F., Takahashi, S.I., Shimizu, T. (2015) In vivo loss of function study reveals the short stature homeobox-containing (shox) gene plays indispensable roles in early embryonic growth and bone formation in zebrafish. Developmental Dynamics : an official publication of the American Association of Anatomists. 244(2):146-56
1 - 10 of 12
Show