Gene
fgfr1b
- ID
- ZDB-GENE-060503-14
- Name
- fibroblast growth factor receptor 1b
- Symbol
- fgfr1b Nomenclature History
- Previous Names
-
- si:ch211-180b9.1
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Predicted to enable fibroblast growth factor binding activity and fibroblast growth factor receptor activity. Acts upstream of or within several processes, including fibroblast growth factor receptor signaling pathway; pectoral fin development; and post-anal tail morphogenesis. Predicted to be located in plasma membrane. Predicted to be part of receptor complex. Is expressed in several structures, including basal plate midbrain region; forebrain neural keel; forebrain neural rod; head; and nervous system. Human ortholog(s) of this gene implicated in several diseases, including Jackson-Weiss syndrome; bone disease (multiple); carcinoma (multiple); hematologic cancer (multiple); and hypogonadotropic hypogonadism (multiple). Orthologous to human FGFR1 (fibroblast growth factor receptor 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 17 figures from 9 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cssl:d811 (23 images)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Leerberg et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
hypogonadotropic hypogonadism 2 with or without anosmia | Alliance | Hypogonadotropic hypogonadism 2 with or without anosmia | 147950 |
Jackson-Weiss syndrome | Alliance | Jackson-Weiss syndrome | 123150 |
osteoglophonic dysplasia | Alliance | Osteoglophonic dysplasia | 166250 |
Pfeiffer syndrome | Alliance | Pfeiffer syndrome | 101600 |
Encephalocraniocutaneous lipomatosis, somatic mosaic | 613001 | ||
Hartsfield syndrome | 615465 | ||
Trigonocephaly 1 | 190440 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
Protein | Length |
---|---|
UniProtKB:A0A8M9QKR2
|
510 |
UniProtKB:A0A8M2BGG7
|
738 |
UniProtKB:A0A8M9QC50
|
740 |
UniProtKB:A0A8M1NUM7
|
740 |
UniProtKB:A0A8M3B3N4
|
731 |
Type | Name | Length (nt) | Analysis |
---|---|---|---|
mRNA |
fgfr1b-203
(1)
|
1038 nt |
Interactions and Pathways
Plasmids
No data available