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. 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); cleft lip; hematologic cancer (multiple); and hypogonadotropic hypogonadism (multiple). Orthologous to human FGFR1 (fibroblast growth factor receptor 1).
Genome Resources
Note
None
Expression
All Expression Data
15 figures from 8 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With fgfr1b Human Ortholog
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
Associated With fgfr1b Via Experimental Models
No data available
Gene Ontology
Protein Domains
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 subtype
Domain IPR007110 Immunoglobulin-like domain
Domain IPR013098 Immunoglobulin I-set
Domain IPR020635 Tyrosine-protein kinase, catalytic domain
Domain IPR041159 Fibroblast growth factor receptor, transmembrane domain
Family IPR016248 Fibroblast growth factor receptor family
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 Fibroblast growth factor receptor, transmembrane domain Immunoglobulin I-set Immunoglobulin-like domain Immunoglobulin-like domain superfamily Immunoglobulin-like fold Immunoglobulin subtype Immunoglobulin subtype 2 Protein kinase, ATP binding site Protein kinase domain Protein kinase-like domain superfamily Serine-threonine/tyrosine-protein kinase, catalytic domain Tyrosine-protein kinase, active site Tyrosine-protein kinase, catalytic domain
UniProtKB:G1K2P7 766
UniProtKB:C8XT57 738
UniProtKB:A4JYF3 283
UniProtKB:F1Q5T3 280
UniProtKB:G1K2P2 740
Transcripts
Genome Browsers
Interactions and Pathways
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations