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 have fibroblast growth factor binding activity and fibroblast growth factor-activated receptor activity. Involved in fibroblast growth factor receptor signaling pathway and post-anal tail morphogenesis. Predicted to localize to integral component of plasma membrane and receptor complex. Human ortholog(s) of this gene implicated in several diseases, including Jackson-Weiss syndrome; bone disease (multiple); cleft lip; hematologic cancer (multiple); and hypogonadotropic hypogonadism (multiple). Is expressed in several structures, including basal plate midbrain region; forebrain neural keel; forebrain neural rod; head; and nervous system. Orthologous to human FGFR1 (fibroblast growth factor receptor 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 19 figures from 10 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
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR008266 | Tyrosine-protein kinase, active site |
| Binding_site | IPR017441 | Protein kinase, ATP binding site |
| Domain | IPR000719 | Protein kinase domain |
| Domain | IPR001245 | Serine-threonine/tyrosine-protein kinase, catalytic domain |
| Domain | IPR003598 | Immunoglobulin subtype 2 |
| Domain | IPR003599 | Immunoglobulin domain subtype |
| Domain | IPR007110 | Immunoglobulin-like domain |
| Domain | IPR013098 | Immunoglobulin I-set |
| Domain | IPR020635 | Tyrosine-protein kinase, catalytic domain |
| Family | IPR016248 | Fibroblast growth factor receptor family |
| Family | IPR050122 | Receptor Tyrosine Kinase |
| Homologous_superfamily | IPR011009 | Protein kinase-like domain superfamily |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR036179 | Immunoglobulin-like domain superfamily |
Domain Details Per Protein
| Protein | Length | Fibroblast growth factor receptor family | Immunoglobulin domain subtype | Immunoglobulin I-set | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin subtype 2 | Protein kinase, ATP binding site | Protein kinase domain | Protein kinase-like domain superfamily | Receptor Tyrosine Kinase | Serine-threonine/tyrosine-protein kinase, catalytic domain | Tyrosine-protein kinase, active site | Tyrosine-protein kinase, catalytic domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9QKR2
|
510 | ||||||||||||||
|
UniProtKB:A0A8M2BGG7
|
738 | ||||||||||||||
|
UniProtKB:A0A8M9QC50
|
740 | ||||||||||||||
|
UniProtKB:A0A8M1NUM7
|
740 | ||||||||||||||
|
UniProtKB:A0A8M3B3N4
|
731 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
fgfr1b-201
(1)
|
Ensembl | 2,736 nt | ||
| mRNA |
fgfr1b-202
(1)
|
Ensembl | 2,814 nt | ||
| mRNA |
fgfr1b-203
(1)
|
Ensembl | 1,038 nt |
Interactions and Pathways
Plasmids
No data available