Gene
pthlhb
- ID
- ZDB-GENE-110411-206
- Name
- parathyroid hormone-like hormone b
- Symbol
- pthlhb Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Predicted to enable hormone activity and peptide hormone receptor binding activity. Acts upstream of or within embryonic viscerocranium morphogenesis. Predicted to be located in extracellular region. Is expressed in several structures, including head; mesenchymal cell; otic vesicle; pancreas; and thymus. Human ortholog(s) of this gene implicated in brachydactyly type E2. Orthologous to human PTHLH (parathyroid hormone like hormone).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Yan et al., 2012
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| brachydactyly type E2 | Alliance | Brachydactyly, type E2 | 613382 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Parathyroid hormone/parathyroid hormone-related protein | Parathyroid hormone-related protein |
|---|---|---|---|---|
| UniProtKB:Q1L5E7 | InterPro | 162 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
pthlhb-201
(1)
|
Ensembl | 578 nt |
Interactions and Pathways
No data available
Plasmids
No data available