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FGFR3 fibroblast growth factor receptor 3 [ Homo sapiens (human) ]

Gene ID: 2261, updated on 11-Oct-2020

Summary

Official Symbol
FGFR3provided by HGNC
Official Full Name
fibroblast growth factor receptor 3provided by HGNC
Primary source
HGNC:HGNC:3690
See related
Ensembl:ENSG00000068078 MIM:134934
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ACH; CEK2; JTK4; CD333; HSFGFR3EX
Summary
This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist 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 particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. [provided by RefSeq, Aug 2017]
Expression
Biased expression in skin (RPKM 120.7), esophagus (RPKM 18.0) and 8 other tissues See more
Orthologs

Genomic context

See FGFR3 in Genome Data Viewer
Location:
4p16.3
Exon count:
19
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (1793293..1808872)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (1795039..1810599)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene transforming acidic coiled-coil containing protein 3 Neighboring gene uncharacterized LOC112268460 Neighboring gene CRISPRi-validated cis-regulatory element chr4.260 Neighboring gene leucine zipper and EF-hand containing transmembrane protein 1 Neighboring gene RNA, 7SL, cytoplasmic 671, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.
GeneReviews: Not available
A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer.
GeneReviews: Not available
Achondroplasia
MedGen: C0001080 OMIM: 100800 GeneReviews: Achondroplasia
Compare labs
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
MedGen: C1864852 OMIM: 610474 GeneReviews: Not available
Compare labs
Carcinoma of cervix
MedGen: C0302592 OMIM: 603956 GeneReviews: Not available
Compare labs
Colorectal cancer
MedGen: C1527249 OMIM: 114500 GeneReviews: Lynch Syndrome
Compare labs
Crouzon syndrome with acanthosis nigricans Compare labs
Epidermal nevus
MedGen: C0334082 OMIM: 162900 GeneReviews: Not available
Compare labs
Genome-wide association study identifies multiple loci associated with bladder cancer risk.
GeneReviews: Not available
Hypochondroplasia
MedGen: C0410529 OMIM: 146000 GeneReviews: Hypochondroplasia
Compare labs
Isolated coronal synostosis Compare labs
Levy-Hollister syndrome
MedGen: C0265269 OMIM: 149730 GeneReviews: Not available
Compare labs
Malignant tumor of testis
MedGen: C0153594 OMIM: 273300 GeneReviews: Not available
Compare labs
Muenke syndrome Compare labs
Severe achondroplasia with developmental delay and acanthosis nigricans
MedGen: C2674173 OMIM: 616482 GeneReviews: Not available
Compare labs
Thanatophoric dysplasia type 1
MedGen: C1868678 OMIM: 187600 GeneReviews: Thanatophoric Dysplasia
Compare labs
Thanatophoric dysplasia, type 2
MedGen: C1300257 OMIM: 187601 GeneReviews: Thanatophoric Dysplasia
Compare labs
Urinary bladder cancer
MedGen: C0005684 OMIM: 109800 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2011-11-09)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2011-11-09)

ClinGen Genome Curation PagePubMed

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
fibroblast growth factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fibroblast growth factor binding IDA
Inferred from Direct Assay
more info
PubMed 
fibroblast growth factor-activated receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fibroblast growth factor-activated receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein tyrosine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
transmembrane receptor protein tyrosine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
MAPK cascade TAS
Traceable Author Statement
more info
 
bone maturation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
bone mineralization ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
bone morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
bone morphogenesis TAS
Traceable Author Statement
more info
PubMed 
cell-cell signaling IEA
Inferred from Electronic Annotation
more info
 
chondrocyte differentiation TAS
Traceable Author Statement
more info
PubMed 
chondrocyte proliferation TAS
Traceable Author Statement
more info
PubMed 
endochondral bone growth TAS
Traceable Author Statement
more info
PubMed 
endochondral ossification TAS
Traceable Author Statement
more info
PubMed 
fibroblast growth factor receptor apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
fibroblast growth factor receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
fibroblast growth factor receptor signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
fibroblast growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
multicellular organism development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of developmental growth ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
peptidyl-tyrosine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of ERK1 and ERK2 cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of MAPK cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of MAPK cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell proliferation IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of phosphatidylinositol 3-kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of phosphatidylinositol 3-kinase activity TAS
Traceable Author Statement
more info
PubMed 
positive regulation of phospholipase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein kinase B signaling TAS
Traceable Author Statement
more info
 
positive regulation of tyrosine phosphorylation of STAT protein IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
skeletal system development TAS
Traceable Author Statement
more info
PubMed 
transmembrane receptor protein tyrosine kinase signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
cell surface IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with focal adhesion TAS
Traceable Author Statement
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transport vesicle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
fibroblast growth factor receptor 3
Names
FGFR-3
fibroblast growth factor receptor 3 variant 4
fibroblast growth factor receptor 3-S
hydroxyaryl-protein kinase
tyrosine kinase JTK4
NP_000133.1
NP_001156685.1
NP_001341738.1
NP_001341739.1
NP_075254.1
XP_006713931.1
XP_006713932.1
XP_006713933.1
XP_006713934.1
XP_006713936.1
XP_011511722.1
XP_011511724.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012632.1 RefSeqGene

    Range
    5001..20561
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1021

mRNA and Protein(s)

  1. NM_000142.5NP_000133.1  fibroblast growth factor receptor 3 isoform 1 precursor

    See identical proteins and their annotated locations for NP_000133.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an alternate coding exon and contains another alternate coding exon compared to variant 3. The resulting isoform (1) has the same N- and C-termini but is shorter compared to isoform 3.
    Source sequence(s)
    AC016773
    Consensus CDS
    CCDS3353.1
    UniProtKB/Swiss-Prot
    P22607
    UniProtKB/TrEMBL
    Q0IJ44
    Related
    ENSP00000414914.2, ENST00000440486.7
    Conserved Domains (7) summary
    cd05857
    Location:161245
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    cd05858
    Location:268357
    Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
    smart00408
    Location:53110
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:54125
    IG; Immunoglobulin
    smart00410
    Location:260356
    IG_like; Immunoglobulin like
    pfam07714
    Location:472748
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:459792
    PKc_like; Protein Kinases, catalytic domain
  2. NM_001163213.2NP_001156685.1  fibroblast growth factor receptor 3 isoform 3 precursor

    See identical proteins and their annotated locations for NP_001156685.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), also known as isoform IIIb, encodes the longest isoform (3).
    Source sequence(s)
    AC016773
    Consensus CDS
    CCDS54706.1
    UniProtKB/Swiss-Prot
    P22607
    UniProtKB/TrEMBL
    Q0IJ44
    Related
    ENSP00000339824.4, ENST00000340107.8
    Conserved Domains (7) summary
    cd04974
    Location:268356
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:161245
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00408
    Location:53110
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:54125
    IG; Immunoglobulin
    smart00410
    Location:260355
    IG_like; Immunoglobulin like
    pfam07714
    Location:474750
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:461794
    PKc_like; Protein Kinases, catalytic domain
  3. NM_001354809.2NP_001341738.1  fibroblast growth factor receptor 3 isoform 4 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate coding exon, contains another alternate coding exon, and uses an alternate in-frame splice junction compared to variant 3. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 3.
    Source sequence(s)
    AC016773
    Conserved Domains (4) summary
    cd05857
    Location:161245
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    cd05858
    Location:268357
    Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
    smart00408
    Location:53110
    IGc2; Immunoglobulin C-2 Type
    cl21453
    Location:460793
    PKc_like; Protein Kinases, catalytic domain
  4. NM_001354810.2NP_001341739.1  fibroblast growth factor receptor 3 isoform 5 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks two alternate coding exons, contains another alternate coding exon, and uses an alternate in-frame splice junction compared to variant 3. The resulting isoform (5) has multiple differences compared to isoform 3.
    Source sequence(s)
    AC016773
    Consensus CDS
    CCDS87200.1
    Related
    ENSP00000420533.2, ENST00000481110.6
    Conserved Domains (4) summary
    cd05857
    Location:161245
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    cd05858
    Location:268357
    Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
    smart00408
    Location:53110
    IGc2; Immunoglobulin C-2 Type
    cl21453
    Location:460654
    PKc_like; Protein Kinases, catalytic domain
  5. NM_022965.4NP_075254.1  fibroblast growth factor receptor 3 isoform 2 precursor

    See identical proteins and their annotated locations for NP_075254.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two alternate coding exons compared to variant 3. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 3.
    Source sequence(s)
    AC016773
    Consensus CDS
    CCDS3354.1
    UniProtKB/Swiss-Prot
    P22607
    UniProtKB/TrEMBL
    Q0IJ44
    Related
    ENSP00000231803.1, ENST00000352904.6
    Conserved Domains (6) summary
    cd04974
    Location:268357
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:161245
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00408
    Location:53110
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:260289
    IG; Immunoglobulin
    pfam07714
    Location:360636
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:347680
    PKc_like; Protein Kinases, catalytic domain

RNA

  1. NR_148971.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) contains an alternate exon compared to variant 3. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC016773

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    1793293..1808872
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713868.1XP_006713931.1  fibroblast growth factor receptor 3 isoform X1

    Conserved Domains (7) summary
    cd04974
    Location:268356
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:161245
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00408
    Location:53110
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:54125
    IG; Immunoglobulin
    smart00410
    Location:260355
    IG_like; Immunoglobulin like
    pfam07714
    Location:476752
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:463797
    PKc_like; Protein Kinases, catalytic domain
  2. XM_006713869.1XP_006713932.1  fibroblast growth factor receptor 3 isoform X2

    Conserved Domains (7) summary
    cd04974
    Location:268356
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:161245
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00408
    Location:53110
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:54125
    IG; Immunoglobulin
    smart00410
    Location:260355
    IG_like; Immunoglobulin like
    pfam07714
    Location:476752
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:463796
    PKc_like; Protein Kinases, catalytic domain
  3. XM_006713870.1XP_006713933.1  fibroblast growth factor receptor 3 isoform X3

    Conserved Domains (7) summary
    cd04974
    Location:268356
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:161245
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00408
    Location:53110
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:54125
    IG; Immunoglobulin
    smart00410
    Location:260355
    IG_like; Immunoglobulin like
    pfam07714
    Location:475751
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:462796
    PKc_like; Protein Kinases, catalytic domain
  4. XM_006713871.1XP_006713934.1  fibroblast growth factor receptor 3 isoform X4

    Conserved Domains (7) summary
    cd04974
    Location:268356
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:161245
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00408
    Location:53110
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:54125
    IG; Immunoglobulin
    smart00410
    Location:260355
    IG_like; Immunoglobulin like
    pfam07714
    Location:474750
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:461795
    PKc_like; Protein Kinases, catalytic domain
  5. XM_011513420.1XP_011511722.1  fibroblast growth factor receptor 3 isoform X5

    Conserved Domains (7) summary
    cd05857
    Location:161245
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    cd05858
    Location:268357
    Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
    smart00408
    Location:53110
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:54125
    IG; Immunoglobulin
    smart00410
    Location:260356
    IG_like; Immunoglobulin like
    pfam07714
    Location:474750
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:461795
    PKc_like; Protein Kinases, catalytic domain
  6. XM_011513422.1XP_011511724.1  fibroblast growth factor receptor 3 isoform X6

    Conserved Domains (7) summary
    cd05857
    Location:161245
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    cd05858
    Location:268357
    Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
    smart00408
    Location:53110
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:54125
    IG; Immunoglobulin
    smart00410
    Location:260356
    IG_like; Immunoglobulin like
    pfam07714
    Location:473749
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:460794
    PKc_like; Protein Kinases, catalytic domain
  7. XM_006713873.1XP_006713936.1  fibroblast growth factor receptor 3 isoform X7

    Conserved Domains (7) summary
    cd05857
    Location:161245
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    cd05858
    Location:268357
    Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
    smart00408
    Location:53110
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:54125
    IG; Immunoglobulin
    smart00410
    Location:260356
    IG_like; Immunoglobulin like
    pfam07714
    Location:472748
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:459793
    PKc_like; Protein Kinases, catalytic domain
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