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 have hormone activity and peptide hormone receptor binding activity. Involved in embryonic viscerocranium morphogenesis. Predicted to localize to extracellular region. Human ortholog(s) of this gene implicated in brachydactyly type E2. Is expressed in several structures, including head; mesenchymal cell; otic vesicle; pancreas; and thymus. 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 | Length | Parathyroid hormone/parathyroid hormone-related protein | Parathyroid hormone-related protein |
|---|---|---|---|
|
UniProtKB:Q1L5E7
|
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