Fibroblast Growth Factor Receptor 3

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OMIM Number

134934

NCBI Gene ID

2261

Uniprot ID

P22607

Length

15,574 bases

No. of Exons

19

No. of isoforms

4

Protein Name

Fibroblast growth factor receptor 3

Molecular Mass

87710

Amino Acid Count

806

Genomic Location

4:1,793,299-1,808,872

Gene Map Locus
4p16.3

Description

The FGFR3 gene encodes a tyrosine kinase protein that functions as a cell-surface receptor for fibroblast growth factors. The receptor plays a key role in the differentiation, proliferation and apoptosis of chondrocytes and is hence essential for normal skeletal development. 

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_000142.4:c.1138G>AArab; Saudi Arabia; Un...NC_000004.12:g.1804392G>APathogenic,Uncertain SignificanceAchondroplasiaNG_012632.1:g.16081G>A; NM_000142.4:c.1138G>A; NP_000133.1:p.Gly380Arg2893161416327
NM_000142.4:c.1138G>CArab; Algeria; Iraq; M...Chr4: 1804392PathogenicAchondroplasiaNG_012632.1:g.16081G>C; NM_000142.4:c.1138G>C; NP_000133.1:p.Gly380Arg2893161416328
NM_000142.4:c.2419T>GLebanonchr4:1807260PathogenicAchondroplasiaNG_012632.1:g.18949T>G; NM_000142.4:c.2419T>G; NP_001341738.1:p.Ter808Arg12191310116334
NM_000142.4:c.742C>TSaudi Arabia; United A...NC_000004.12:g.1801837C>TLikely Pathogenic,PathogenicThanatophoric Dysplasia, Type ING_012632.1:g.13526C>T; NM_000142.4:c.742C>T; NP_000133.1:p.Arg248Cys12191348216332
NM_000142.5:c.1172C>ASaudi ArabiaNC_000004.12:g.1804426C>ALikely Pathogenic,PathogenicCrouzon Syndrome with Acanthosis NigricansNG_012632.1:g.16115C>A; NM_000142.5:c.1172C>A; NP_000133.1:p.Ala391Glu2893161516329
NM_000142.5:c.1620C>ASaudi ArabiaNC_000004.12:g.1805644C>APathogenicHypochondroplasiaNG_012632.1:g.17333C>A; NM_000142.5:c.1620C>A; NP_000133.1:p.Asn540Lys2893306816337
NM_000142.5:c.1620C>GSaudi ArabiaNC_000004.12:g.1805644C>GPathogenicHypochondroplasiaNG_012632.1:g.17333C>G; NM_000142.5:c.1620C>G; NP_000133.1:p.Asn540Lys2893306816338

Other Reports

Egypt

Pusch et al. (2004) reported the screening of ancient bone samples for diagnostic achondroplasia mutations. The FGFR3 mutation c.1138G>A was detected in a dry mummy of short stature from the Semerchet tomb, dating approximately 4890-5050 BP.  

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