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

Expression

All Expression Data

19 figures from 10 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

cssl:d811 (23 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 1 Figure from Leerberg et al., 2019
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
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	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:A0A8M9QKR2 InterPro	510
UniProtKB:A0A8M2BGG7 InterPro	738
UniProtKB:A0A8M9QC50 InterPro	740
UniProtKB:A0A8M1NUM7 InterPro	740
UniProtKB:A0A8M3B3N4 InterPro	731