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

Gene ID: 2261, updated on 13-Apr-2024

Summary

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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; AllianceGenome:HGNC:3690
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
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Genomic context

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See FGFR3 in Genome Data Viewer
Location:
4p16.3
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (1793293..1808867)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (1791772..1807344)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (1795020..1810594)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene transforming acidic coiled-coil containing protein 3 Neighboring gene uncharacterized LOC112268460 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15142 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1755043-1755650 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1767895-1768754 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1769833-1770398 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1770399-1770964 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15143 Neighboring gene uncharacterized LOC124900648 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1779273-1780036 Neighboring gene CRISPRi-validated cis-regulatory element chr4.260 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15144 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15145 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1796986-1797514 Neighboring gene leucine zipper and EF-hand containing transmembrane protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1828066-1828868 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:1844335-1844585 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:1856349-1856525 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:1857091-1857592 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21161 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15148 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1858969-1859764 Neighboring gene RNA, 7SL, cytoplasmic 671, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. [Investigation of the mutational status of the FGFR3 gene in urothelial bladder carcinoma]. Oliushina EM, et al. Arkh Patol, 2023. PMID 37053347
  2. Familial isolated acanthosis nigricans as a result of a recurrent FGFR3 truncating mutation. Pesqué D, et al. Clin Exp Dermatol, 2023 Jun 5. PMID 36848372
  3. Genetic Interference of FGFR3 Impedes Invasion of Upper Tract Urothelial Carcinoma Cells by Alleviating RAS/MAPK Signal Activity. Huang GK, et al. Int J Mol Sci, 2023 Jan 16. PMID 36675289, Free PMC Article
  4. Infiltrating gliomas with FGFR alterations: Histologic features, genetic alterations, and potential clinical implications. Dono A, et al. Cancer Biomark, 2023. PMID 36530080
  5. FGFR3 Mutational Activation Can Induce Luminal-like Papillary Bladder Tumor Formation and Favors a Male Sex Bias. Shi MJ, et al. Eur Urol, 2023 Jan. PMID 36273937

See all (594) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. [Clinical characteristics and prognosis of newly diagnosed multiple myeloma patients with FGFR3 gene mutations].
    Title: [Clinical characteristics and prognosis of newly diagnosed multiple myeloma patients with FGFR3 gene mutations].
  2. Associations of TACSTD2/TROP2 and NECTIN-4/NECTIN-4 with molecular subtypes, PD-L1 expression, and FGFR3 mutational status in two advanced urothelial bladder cancer cohorts.
    Title: Associations of TACSTD2/TROP2 and NECTIN-4/NECTIN-4 with molecular subtypes, PD-L1 expression, and FGFR3 mutational status in two advanced urothelial bladder cancer cohorts.
  3. Exploring FGFR3 Mutations in the Male Germline: Implications for Clonal Germline Expansions and Paternal Age-Related Dysplasias.
    Title: Exploring FGFR3 Mutations in the Male Germline: Implications for Clonal Germline Expansions and Paternal Age-Related Dysplasias.
  4. N-glycan on N262 of FGFR3 regulates the intracellular localization and phosphorylation of the receptor.
    Title: N-glycan on N262 of FGFR3 regulates the intracellular localization and phosphorylation of the receptor.
  5. Non-Small Cell Lung Carcinoma With Clear Cell Features and FGFR3::TACC3 Gene Rearrangement : Clinicopathologic and Next Generation Sequencing Study of 7 Cases.
    Title: Non-Small Cell Lung Carcinoma With Clear Cell Features and FGFR3::TACC3 Gene Rearrangement : Clinicopathologic and Next Generation Sequencing Study of 7 Cases.
  6. FGFR3 Alterations in Bladder Cancer Stimulate Serine Synthesis to Induce Immune-Inert Macrophages That Suppress T-cell Recruitment and Activation.
    Title: FGFR3 Alterations in Bladder Cancer Stimulate Serine Synthesis to Induce Immune-Inert Macrophages That Suppress T-cell Recruitment and Activation.
  7. Unravelling the pathogenesis of foramen magnum stenosis in patients with severe achondroplasia: a CT-based comparison with age-matched controls and FGFR3 craniosynostosis syndromes.
    Title: Unravelling the pathogenesis of foramen magnum stenosis in patients with severe achondroplasia: a CT-based comparison with age-matched controls and FGFR3 craniosynostosis syndromes.
  8. Genome-wide open reading frame profiling identifies fibroblast growth factor signaling as a driver of PD-L1 expression in head and neck squamous cell carcinoma.
    Title: Genome-wide open reading frame profiling identifies fibroblast growth factor signaling as a driver of PD-L1 expression in head and neck squamous cell carcinoma.
  9. Fibroblast growth factor receptor 3 mutation attenuates response to immune checkpoint blockade in metastatic urothelial carcinoma by driving immunosuppressive microenvironment.
    Title: Fibroblast growth factor receptor 3 mutation attenuates response to immune checkpoint blockade in metastatic urothelial carcinoma by driving immunosuppressive microenvironment.
  10. The Association of P53, CK29, and FGFR3 Overexpression with the Characteristics of Urothelial Cell Carcinoma of the Bladder.
    Title: P53, CK20, and FGFR3 Overexpression is Associated with the Characteristics of Urothelial Cell Carcinoma of the Bladder.
Submit: New GeneRIF Correction See all GeneRIFs (452)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
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
Cervix cancer
MedGen: C4048328 OMIM: 603956 GeneReviews: Not available
Compare labs
Colorectal cancer
MedGen: C0346629 OMIM: 114500 GeneReviews: Lynch Syndrome
Compare labs
Crouzon syndrome-acanthosis nigricans syndrome
MedGen: C2677099 OMIM: 612247 GeneReviews: FGFR Craniosynostosis Syndromes Overview
Compare labs
Epidermal nevus
MedGen: C0334082 OMIM: 162900 GeneReviews: PIK3CA-Related Overgrowth Spectrum
Compare labs
Germ cell tumor of testis
MedGen: C1336708 OMIM: 273300 GeneReviews: Not available
Compare labs
Hypochondroplasia
MedGen: C0410529 OMIM: 146000 GeneReviews: Hypochondroplasia
Compare labs
Isolated coronal synostosis
MedGen: CN043619 GeneReviews: FGFR Craniosynostosis Syndromes Overview
Compare labs
Lacrimoauriculodentodigital syndrome 2
MedGen: C5774286 OMIM: 620192 GeneReviews: Not available
not available
Malignant tumor of urinary bladder
MedGen: C0005684 OMIM: 109800 GeneReviews: Not available
Compare labs
Muenke syndrome
MedGen: C1864436 OMIM: 602849 GeneReviews: Muenke Syndrome, FGFR Craniosynostosis Syndromes Overview
Compare labs
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
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

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

EBI GWAS Catalog

Description
A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.
EBI GWAS Catalog
A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer.
EBI GWAS Catalog
Genome-wide association study identifies multiple loci associated with bladder cancer risk.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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Preferred Names
fibroblast growth factor receptor 3
Names
FGFR-3
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
XP_047305776.1
XP_047305777.1
XP_047305778.1
XP_047305779.1
XP_047305780.1
XP_054205236.1
XP_054205237.1
XP_054205238.1
XP_054205239.1
XP_054205240.1
XP_054205241.1
XP_054205242.1
XP_054205243.1

NCBI Reference Sequences (RefSeq)

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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_000142.5 → NP_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
    D3DVP9, D3DVQ0, P22607, Q14308, Q16294, Q16608, Q59FL9
    UniProtKB/TrEMBL
    A0A7I2RW32
    Related
    ENSP00000414914.2, ENST00000440486.8
    Conserved Domains (7) summary
    cd05857
    Location:161 → 245
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    cd05858
    Location:268 → 357
    Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
    smart00408
    Location:53 → 110
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:54 → 125
    IG; Immunoglobulin
    smart00410
    Location:260 → 356
    IG_like; Immunoglobulin like
    pfam07714
    Location:472 → 748
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:459 → 792
    PKc_like; Protein Kinases, catalytic domain

  2. NM_001163213.2 → NP_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/TrEMBL
    Q8NI16
    Related
    ENSP00000339824.4, ENST00000340107.9
    Conserved Domains (7) summary
    cd04974
    Location:268 → 356
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:161 → 245
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00408
    Location:53 → 110
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:54 → 125
    IG; Immunoglobulin
    smart00410
    Location:260 → 355
    IG_like; Immunoglobulin like
    pfam07714
    Location:474 → 750
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:461 → 794
    PKc_like; Protein Kinases, catalytic domain

  3. NM_001354809.2 → NP_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
    UniProtKB/TrEMBL
    A0A7I2RW32, X5D2G8
    Conserved Domains (4) summary
    cd05857
    Location:161 → 245
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    cd05858
    Location:268 → 357
    Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
    smart00408
    Location:53 → 110
    IGc2; Immunoglobulin C-2 Type
    cl21453
    Location:460 → 793
    PKc_like; Protein Kinases, catalytic domain

  4. NM_001354810.2 → NP_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
    UniProtKB/TrEMBL
    A0A7I2RW32, F8W9L4
    Related
    ENSP00000420533.2, ENST00000481110.7
    Conserved Domains (4) summary
    cd05857
    Location:161 → 245
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    cd05858
    Location:268 → 357
    Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
    smart00408
    Location:53 → 110
    IGc2; Immunoglobulin C-2 Type
    cl21453
    Location:460 → 654
    PKc_like; Protein Kinases, catalytic domain

  5. NM_022965.4 → NP_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/TrEMBL
    A0A7I2RW32
    Related
    ENSP00000231803.1, ENST00000352904.6
    Conserved Domains (6) summary
    cd04974
    Location:268 → 357
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:161 → 245
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00408
    Location:53 → 110
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:260 → 289
    IG; Immunoglobulin
    pfam07714
    Location:360 → 636
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:347 → 680
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    1793293..1808867
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713868.2 → XP_006713931.1  fibroblast growth factor receptor 3 isoform X1

    UniProtKB/TrEMBL
    Q8NI16
    Conserved Domains (7) summary
    cd04974
    Location:268 → 356
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:161 → 245
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00408
    Location:53 → 110
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:54 → 125
    IG; Immunoglobulin
    smart00410
    Location:260 → 355
    IG_like; Immunoglobulin like
    pfam07714
    Location:476 → 752
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:463 → 797
    PKc_like; Protein Kinases, catalytic domain

  2. XM_006713869.2 → XP_006713932.1  fibroblast growth factor receptor 3 isoform X3

    UniProtKB/TrEMBL
    Q8NI16
    Conserved Domains (7) summary
    cd04974
    Location:268 → 356
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:161 → 245
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00408
    Location:53 → 110
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:54 → 125
    IG; Immunoglobulin
    smart00410
    Location:260 → 355
    IG_like; Immunoglobulin like
    pfam07714
    Location:476 → 752
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:463 → 796
    PKc_like; Protein Kinases, catalytic domain

  3. XM_006713870.2 → XP_006713933.1  fibroblast growth factor receptor 3 isoform X2

    UniProtKB/TrEMBL
    Q8NI16
    Conserved Domains (7) summary
    cd04974
    Location:268 → 356
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:161 → 245
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00408
    Location:53 → 110
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:54 → 125
    IG; Immunoglobulin
    smart00410
    Location:260 → 355
    IG_like; Immunoglobulin like
    pfam07714
    Location:475 → 751
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:462 → 796
    PKc_like; Protein Kinases, catalytic domain

  4. XM_047449821.1 → XP_047305777.1  fibroblast growth factor receptor 3 isoform X4

  5. XM_006713871.2 → XP_006713934.1  fibroblast growth factor receptor 3 isoform X5

    UniProtKB/TrEMBL
    Q8NI16
    Conserved Domains (7) summary
    cd04974
    Location:268 → 356
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:161 → 245
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00408
    Location:53 → 110
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:54 → 125
    IG; Immunoglobulin
    smart00410
    Location:260 → 355
    IG_like; Immunoglobulin like
    pfam07714
    Location:474 → 750
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:461 → 795
    PKc_like; Protein Kinases, catalytic domain

  6. XM_011513420.2 → XP_011511722.1  fibroblast growth factor receptor 3 isoform X6

    UniProtKB/TrEMBL
    A0A7I2RW32
    Conserved Domains (7) summary
    cd05857
    Location:161 → 245
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    cd05858
    Location:268 → 357
    Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
    smart00408
    Location:53 → 110
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:54 → 125
    IG; Immunoglobulin
    smart00410
    Location:260 → 356
    IG_like; Immunoglobulin like
    pfam07714
    Location:474 → 750
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:461 → 795
    PKc_like; Protein Kinases, catalytic domain

  7. XM_011513422.2 → XP_011511724.1  fibroblast growth factor receptor 3 isoform X7

    UniProtKB/TrEMBL
    A0A7I2RW32
    Conserved Domains (7) summary
    cd05857
    Location:161 → 245
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    cd05858
    Location:268 → 357
    Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
    smart00408
    Location:53 → 110
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:54 → 125
    IG; Immunoglobulin
    smart00410
    Location:260 → 356
    IG_like; Immunoglobulin like
    pfam07714
    Location:473 → 749
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:460 → 794
    PKc_like; Protein Kinases, catalytic domain

  8. XM_006713873.2 → XP_006713936.1  fibroblast growth factor receptor 3 isoform X9

    UniProtKB/TrEMBL
    A0A7I2RW32
    Conserved Domains (7) summary
    cd05857
    Location:161 → 245
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    cd05858
    Location:268 → 357
    Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
    smart00408
    Location:53 → 110
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:54 → 125
    IG; Immunoglobulin
    smart00410
    Location:260 → 356
    IG_like; Immunoglobulin like
    pfam07714
    Location:472 → 748
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:459 → 793
    PKc_like; Protein Kinases, catalytic domain

  9. XM_047449820.1 → XP_047305776.1  fibroblast growth factor receptor 3 isoform X1

  10. XM_047449822.1 → XP_047305778.1  fibroblast growth factor receptor 3 isoform X8

    UniProtKB/TrEMBL
    X5D2G8

  11. XM_047449823.1 → XP_047305779.1  fibroblast growth factor receptor 3 isoform X9

  12. XM_047449824.1 → XP_047305780.1  fibroblast growth factor receptor 3 isoform X10

    UniProtKB/Swiss-Prot
    D3DVP9, D3DVQ0, P22607, Q14308, Q16294, Q16608, Q59FL9

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    1791772..1807344
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054349261.1 → XP_054205236.1  fibroblast growth factor receptor 3 isoform X1

  2. XM_054349263.1 → XP_054205238.1  fibroblast growth factor receptor 3 isoform X3

  3. XM_054349262.1 → XP_054205237.1  fibroblast growth factor receptor 3 isoform X2

  4. XM_054349264.1 → XP_054205239.1  fibroblast growth factor receptor 3 isoform X4

  5. XM_054349265.1 → XP_054205240.1  fibroblast growth factor receptor 3 isoform X5

  6. XM_054349266.1 → XP_054205241.1  fibroblast growth factor receptor 3 isoform X6

  7. XM_054349267.1 → XP_054205242.1  fibroblast growth factor receptor 3 isoform X7

  8. XM_054349268.1 → XP_054205243.1  fibroblast growth factor receptor 3 isoform X9

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P22607.1 GenPept UniProtKB/Swiss-Prot:P22607

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