Gene
shhb
- ID
- ZDB-GENE-980526-41
- Name
- sonic hedgehog signaling molecule b
- Symbol
- shhb Nomenclature History
- Previous Names
-
- tiggy winkle hedgehog
- twh
- twhh
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to enable several functions, including calcium ion binding activity; cholesterol-protein transferase activity; and patched binding activity. Acts upstream of or within several processes, including embryonic cranial skeleton morphogenesis; endocardial cell differentiation; and nervous system development. Predicted to be located in Golgi membrane; endoplasmic reticulum membrane; and plasma membrane. Predicted to be active in extracellular space. Is expressed in several structures, including axis; central nervous system; head; neural keel; and neural plate. Human ortholog(s) of this gene implicated in several diseases, including Hirschsprung's disease; holoprosencephaly (multiple); hypoplastic or aplastic tibia with polydactyly; middle cerebral artery infarction; and polydactyly (multiple). Orthologous to human SHH (sonic hedgehog signaling molecule).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 61 figures from 49 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu390 (30 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| hg127 | Allele with one deletion | Exon 1 | Frameshift | CRISPR | |
| hg128 | Allele with one deletion | Exon 1 | Frameshift | CRISPR | |
| la023573Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la028783Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa2069 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa5719 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa8431 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa25111 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-shhb | (2) | |
| MO1-shhb | N/A | (3) |
| MO2-shhb | N/A | (12) |
| MO3-shhb | N/A | (4) |
| MO4-shhb | N/A | Chalasani et al., 2011 |
| MO5-shhb | N/A | Kaur et al., 2018 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| holoprosencephaly 3 | Alliance | Holoprosencephaly 3 | 142945 |
| solitary median maxillary central incisor | Alliance | Single median maxillary central incisor | 147250 |
| Microphthalmia/coloboma 5 | 611638 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Hedgehog, N-terminal signalling domain | Hedgehog protein | Hedgehog protein, Hint domain | Hedgehog Signaling | Hedgehog signalling/DD-peptidase zinc-binding domain superfamily | Hint domain C-terminal | Hint domain N-terminal | Hint domain superfamily |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q90419
|
416 | ||||||||
|
UniProtKB:Q6DBX7
|
416 |
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Interactions and Pathways
No data available
Plasmids
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Et(shhb:GAL4TA4,UAS:mCherry) |
|
| 1 | (5) | |
| Et(shhb:KALTA4,UAS-E1B:mCherry) |
| 23 | (53) | ||
| Tg(-5.2shhb:GFP) |
|
| 1 | (6) | |
| Tg(shhb:GAL4) |
|
| 1 | (4) | |
| Tg(shhb:GAL4TA4,5xUAS:mRFP) |
|
| 1 | (6) |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-265A7 | ZFIN Curated Data | |
| Encodes | EST | eu390 | Thisse et al., 2005 | |
| Encodes | cDNA | MGC:101003 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_131199 (1) | 1990 nt | ||
| Genomic | GenBank:BX510360 (2) | 213323 nt | ||
| Polypeptide | UniProtKB:Q6DBX7 (1) | 416 aa |
- Bulk, J., Kyrychenko, V., Rensinghoff, P.M., Ghaderi Ardekani, Z., Heermann, S. (2023) Holoprosencephaly with a Special Form of Anophthalmia Result from Experimental Induction of bmp4, Oversaturating BMP Antagonists in Zebrafish. International Journal of Molecular Sciences. 24(9):
- Cao, S., Dong, Z., Dong, X., Jia, W., Zhou, F., Zhao, Q. (2023) Zebrafish sox2 Is Required for the Swim Bladder Inflation by Controlling the Swim-Up Behavior. Zebrafish. 20:101810-18
- Ikeda, T., Inamori, K., Kawanishi, T., Takeda, H. (2022) Reemployment of Kupffer's vesicle cells into axial and paraxial mesoderm via transdifferentiation. Development, growth & differentiation. 64(3):163-177
- Niescierowicz, K., Pryszcz, L., Navarrete, C., Tralle, E., Sulej, A., Abu Nahia, K., Kasprzyk, M.E., Misztal, K., Pateria, A., Pakuła, A., Bochtler, M., Winata, C. (2022) Adar-mediated A-to-I editing is required for embryonic patterning and innate immune response regulation in zebrafish. Nature communications. 13:5520
- Rayrikar, A.Y., Wagh, G.A., Santra, M., Patra, C. (2022) Ccn2a-FGFR1-SHH signaling is necessary for intervertebral disc homeostasis and regeneration in adult zebrafish. Development (Cambridge, England). 150(1):
- Saraswathy, V.M., Kurup, A.J., Sharma, P., Polès, S., Poulain, M., Fürthauer, M. (2022) The E3 Ubiquitin Ligase Mindbomb1 controls planar cell polarity-dependent convergent extension movements during zebrafish gastrulation. eLIFE. 11:
- Hentig, J., Cloghessy, K., Lahne, M., Jung, Y.J., Petersen, R.A., Morris, A.C., Hyde, D.R. (2021) Zebrafish Blunt-Force TBI Induces Heterogenous Injury Pathologies That Mimic Human TBI and Responds with Sonic Hedgehog-Dependent Cell Proliferation across the Neuroaxis. Biomedicines. 9(8):
- Jung, J., Kim, E., Rhee, M. (2021) Kapd Is Essential for Specification of the Dopaminergic Neurogenesis in Zebrafish Embryos. Molecules and cells. 44(4):233-244
- Knickmeyer, M.D., Mateo, J.L., Heermann, S. (2021) BMP Signaling Interferes with Optic Chiasm Formation and Retinal Ganglion Cell Pathfinding in Zebrafish. International Journal of Molecular Sciences. 22(9):
- Hong, S., Hu, P., Jang, J.H., Carrington, B., Sood, R., Berger, S.I., Roessler, E., Muenke, M. (2020) Functional analysis of Sonic Hedgehog variants associated with holoprosencephaly in humans using a CRISPR/Cas9 zebrafish model. Human Mutation. 41(12):2155-2166
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