Fgfr3 Gene Summary [Mouse]

This gene encodes a member of the fibroblast growth factor receptor family. Members of this family are highly conserved proteins that differ from one another in their ligand affinities and tissue distribution. A representative protein consists of an extracellular region composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment, and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene may be associated with craniosynostosis and multiple types of skeletal dysplasia. A pseudogene of this gene is located on chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2011]

Details

Type
Protein Coding
Official Symbol
Fgfr3
Official Name
fibroblast growth factor receptor 3 [Source:MGI Symbol;Acc:MGI:95524]
Ensembl ID
ENSMUSG00000054252
Bio databases IDs NCBI: 14184 Ensembl: ENSMUSG00000054252
Aliases fibroblast growth factor receptor 3
Synonyms ACH, CD333, CEK2, Fgfr3 iiib, fibroblast growth factor receptor 3, Flg-2, FR3, HBGFR, HSFGFR3EX, JTK4, Mfr3, sam3
Species
Mouse, Mus musculus
OrthologiesHumanRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Fgfr3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • protein-tyrosine kinase
  • Protein kinase domain
  • identical protein binding
  • activation loop
  • Immunoglobulin like
  • intracellular domain
  • immunoglobulin-like protein domain
  • extracellular loop
  • membrane-proximal domain
  • Tyrosine kinase, catalytic domain
  • Immunoglobulin V-set domain
  • transmembrane receptor
  • extracellular domain
  • Protein kinase (unclassified specificity)
  • Protein tyrosine and serine/threonine kinase
  • immunoglobulin domain
  • Immunoglobulin I-set domain
  • protein binding
  • RNA binding
  • kinase
  • Serine/Threonine protein kinases, catalytic domain
  • kinase domain
  • fibroblast growth factor receptor
  • Protein Kinases, catalytic domain
  • fibroblast growth factor binding
  • transmembrane domain
  • tyrosine kinase domain

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
regulates
regulated by
disease
  • urothelial carcinoma
  • urothelial cancer
  • metastatic renal clear cell adenocarcinoma
  • renal cancer
  • primary peritoneal cancer
  • non-small cell lung cancer
  • metastatic urothelial carcinoma
  • ovarian cancer
  • advanced renal clear cell adenocarcinoma
  • epithelial ovarian cancer
phenotypes
  • abnormal Deiters cell morphology
  • abnormal axial skeleton morphology
  • abnormal behavior
  • abnormal bone ossification
  • abnormal bone structure
  • abnormal breathing pattern
  • abnormal cervical vertebrae morphology
  • abnormal chondrocyte differentiation
  • abnormal chondrocyte morphology
  • abnormal chondrocyte physiology
  • abnormal chondrocyte proliferation
  • abnormal cochlea morphology
  • abnormal cochlear OHC efferent innervation pattern
  • abnormal cochlear hair cell morphology
  • abnormal cochlear outer hair cell morphology
  • abnormal cochlear sensory epithelium morphology
  • abnormal coronal suture morphology
  • abnormal costal cartilage morphology
  • abnormal cranial suture morphology
  • abnormal craniofacial morphology
  • abnormal cranium morphology
  • abnormal endochondral bone ossification
  • abnormal epiphyseal plate morphology
  • abnormal femur morphology
  • abnormal fibula morphology
  • abnormal foramen magnum morphology
  • abnormal gait
  • abnormal head size
  • abnormal humerus morphology
  • abnormal hyaline cartilage morphology
  • abnormal incus morphology
  • abnormal intervertebral disk morphology
  • abnormal intramembranous bone ossification
  • abnormal lambdoid suture morphology
  • abnormal long bone diaphysis morphology
  • abnormal long bone epiphyseal plate morphology
  • abnormal long bone epiphyseal plate proliferative zone
  • abnormal long bone hypertrophic chondrocyte zone
  • abnormal long bone metaphysis morphology
  • abnormal long bone morphology
  • abnormal malleus morphology
  • abnormal maxilla morphology
  • abnormal maxillary zygomatic process morphology
  • abnormal middle ear ossicle morphology
  • abnormal neurocranium morphology
  • abnormal occipital bone morphology
  • abnormal organ of Corti morphology
  • abnormal organ of Corti supporting cell differentiation
  • abnormal osteoblast physiology
  • abnormal osteoclast physiology
  • abnormal palatine bone horizontal plate morphology
  • abnormal parietal bone morphology
  • abnormal patterning of the organ of Corti
  • abnormal pillar cell differentiation
  • abnormal pillar cell morphology
  • abnormal postnatal growth/weight/body size
  • abnormal premaxilla morphology
  • abnormal rib morphology
  • abnormal sagittal suture morphology
  • abnormal skeleton morphology
  • abnormal snout morphology
  • abnormal spine curvature
  • abnormal stapes morphology
  • abnormal sternum ossification
  • abnormal synchondrosis
  • abnormal tail morphology
  • abnormal tail position or orientation
  • abnormal temporal bone morphology
  • abnormal thoracic cage morphology
  • abnormal thoracic cage shape
  • abnormal thoracic vertebrae morphology
  • abnormal tibia morphology
  • abnormal trabecular bone morphology
  • abnormal ulna morphology
  • abnormal vertebrae morphology
  • abnormal vertebral column morphology
  • abnormal vertebral epiphyseal plate morphology
  • abnormal zygomatic bone morphology
  • absent gastric milk in neonates
  • absent jugum limitans
  • absent pillar cells
  • absent tunnel of Corti
  • bowed femur
  • bowed fibula
  • bowed humerus
  • bowed radius
  • bowed tibia
  • bowed ulna
  • deafness
  • decreased body length
  • decreased body size
  • decreased body weight
  • decreased bone mineral density
  • decreased bone trabecula number
  • decreased bone volume
  • decreased chondrocyte number
  • decreased chondrocyte proliferation
  • decreased compact bone thickness
  • decreased cranium height
  • decreased length of long bones
  • decreased long bone epiphyseal plate size
  • decreased osteoblast cell number
  • decreased osteoclast cell number
  • decreased survivor rate
  • decreased trabecular bone thickness
  • decreased trabecular bone volume
  • decreased width of hypertrophic chondrocyte zone
  • delayed bone ossification
  • delayed endochondral bone ossification
  • disorganized long bone epiphyseal plate
  • disproportionate dwarf
  • domed cranium
  • elongated vertebral body
  • enhanced osteoblast differentiation
  • enlarged interparietal bone
  • enlarged vertebral body
  • failure of sternum ossification
  • foramen magnum stenosis
  • impaired hearing
  • impaired lung alveolus development
  • increased Deiters cell number
  • increased bone ossification
  • increased bone trabecular spacing
  • increased chondrocyte proliferation
  • increased cochlear outer hair cell number
  • increased cranium width
  • increased diameter of femur
  • increased diameter of long bones
  • increased fibroblast proliferation
  • increased hyoid bone size
  • increased long bone epiphyseal plate size
  • increased or absent threshold for auditory brainstem response
  • increased osteoclast cell number
  • increased width of hypertrophic chondrocyte zone
  • kinked tail
  • kyphoscoliosis
  • kyphosis
  • large femur head
  • lethality at weaning complete penetrance
  • lethality at weaning incomplete penetrance
  • long femur
  • long humerus
  • long incisors
  • long limbs
  • long radius
  • long tail
  • long tibia
  • long ulna
  • male infertility
  • malocclusion
  • maxillary retrognathia
  • megacephaly
  • midface hypoplasia
  • misaligned incisors
  • neonatal lethality complete penetrance
  • neonatal lethality incomplete penetrance
  • no abnormal phenotype detected
  • ocular hypertelorism
  • perinatal lethality complete penetrance
  • postnatal lethality incomplete penetrance
  • premature cranial synchondrosis closure
  • premature craniofacial suture closure
  • premature death
  • premature endochondral bone ossification
  • premature metopic suture closure
  • prenatal lethality complete penetrance
  • prognathia
  • reduced female fertility
  • respiratory distress
  • round head
  • scoliosis
  • sensorineural hearing loss
  • short basicranium
  • short femur
  • short frontal bone
  • short humerus
  • short limbs
  • short lumbar vertebrae
  • short nasal bone
  • short ribs
  • short snout
  • short tail
  • short tibia
  • short ulna
  • short vertebral body
  • short vertebral column
  • small caudal vertebrae
  • small interparietal bone
  • small occipital bone
  • small presphenoid bone
  • small snout
  • small thoracic cage
  • small thoracic cavity
  • small vertebrae
  • synostosis
  • thin frontal bone
  • thin parietal bone
  • vertebral compression
  • wavy tail
  • wide sternum
role in cell
  • apoptosis
  • activation in
  • expression in
  • growth
  • proliferation
  • differentiation
  • phosphorylation in
  • cell viability
  • migration
  • quantity

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • Cytoplasm
  • cell surface
  • perinuclear region
  • cellular membrane
  • focal adhesions
  • Nucleus
  • vesicles
  • lysosome
  • Golgi Apparatus
  • Endoplasmic Reticulum
  • cytoplasmic face of plasma membrane
  • neuromuscular junctions
  • transport vesicles
  • secretory granules

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Fgfr3 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • bone mineralization
  • multicellular organismal development
  • positive regulation of cell proliferation
  • cell-cell signaling
  • bone morphogenesis
  • chondrocyte differentiation
  • fibroblast growth factor receptor signaling pathway
  • transmembrane receptor protein tyrosine kinase signaling pathway
  • positive regulation of MAPK cascade
  • positive regulation of tyrosine phosphorylation of STAT protein
  • JAK-STAT cascade
  • MAPK cascade
  • skeletal system development
  • endochondral bone growth
  • positive regulation of phospholipase activity
  • negative regulation of developmental growth
  • positive regulation of ERK1 and ERK2 cascade
  • endochondral ossification
  • chondrocyte proliferation
  • positive regulation of kinase activity
  • bone maturation
  • positive regulation of protein kinase B signaling cascade

Cellular Component

Where in the cell the gene product is active
  • focal adhesion
  • endoplasmic reticulum
  • Golgi apparatus
  • receptor complex
  • transport vesicle
  • extracellular region
  • plasma membrane
  • cell surface

Molecular Function

What the gene product does at the molecular level
  • ATP binding
  • fibroblast growth factor-activated receptor activity
  • identical protein binding
  • protein tyrosine kinase activity
  • protein binding
  • fibroblast growth factor binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.