Fibroblast Growth Factor Receptor 3

Alternative Names

FGFR3

Length

15,574 bases

No. of Exons

No. of isoforms

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

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_000142.4:c.1138G>C	Arab; Algeria; Iraq; M...	Chr4: 1804392	Pathogenic	Pathogenic	Achondroplasia	NG_012632.1:g.16081G>C; NM_000142.4:c.1138G>C; NP_000133.1:p.Gly380Arg	28931614	16328
NM_000142.4:c.2419T>G	Lebanon	chr4:1807260	Pathogenic	Pathogenic	Achondroplasia	NG_012632.1:g.18949T>G; NM_000142.4:c.2419T>G; NP_001341738.1:p.Ter808Arg	121913101	16334
NM_000142.4:c.742C>T	Saudi Arabia; United A...	NC_000004.12:g.1801837C>T	Pathogenic	Pathogenic	Thanatophoric Dysplasia, Type I	NG_012632.1:g.13526C>T; NM_000142.4:c.742C>T; NP_000133.1:p.Arg248Cys	121913482	16332
NM_000142.5:c.1118A>G	Saudi Arabia	NC_000004.12:g.1804372A>G	Pathogenic	Pathogenic	Thanatophoric Dysplasia, Type I	NG_012632.1:g.16061A>G; NM_000142.5:c.1118A>G; NP_000133.1:p.Tyr373Cys	121913485	16342
NM_000142.5:c.1138G>A	Arab; Saudi Arabia; Un...	NC_000004.12:g.1804392G>A	Pathogenic, Uncertain Significance	Pathogenic	Achondroplasia	NG_012632.1:g.16081G>A; NM_000142.5:c.1138G>A; NP_000133.1:p.Gly380Arg	28931614	16327
NM_000142.5:c.1172C>A	Saudi Arabia	NC_000004.12:g.1804426C>A	Likely Pathogenic, Pathogenic	Pathogenic	Crouzon Syndrome with Acanthosis Nigricans	NG_012632.1:g.16115C>A; NM_000142.5:c.1172C>A; NP_000133.1:p.Ala391Glu	28931615	16329
NM_000142.5:c.1620C>A	Saudi Arabia	NC_000004.12:g.1805644C>A	Pathogenic	Pathogenic	Hypochondroplasia	NG_012632.1:g.17333C>A; NM_000142.5:c.1620C>A; NP_000133.1:p.Asn540Lys	28933068	16337
NM_000142.5:c.1620C>G	Saudi Arabia	NC_000004.12:g.1805644C>G	Pathogenic	Pathogenic	Hypochondroplasia	NG_012632.1:g.17333C>G; NM_000142.5:c.1620C>G; NP_000133.1:p.Asn540Lys	28933068	16338
NM_000142.5:c.749C>G	United Arab Emirates	NC_000004.12:g.1801844C>G	Likely Pathogenic, Pathogenic	Pathogenic	FGFR3 Related Neurodevelopmental Disorder	NG_012632.1:g.13533C>G; NM_000142.5:c.749C>G; NP_000133.1:p.Pro250Arg	4647924	16340

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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.

External Links

https://medlineplus.gov/genetics/gene/fgfr3/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR3

Contributors

Asha Deepthi: 14.07.2022
Asha Deepthi: 24.11.2021
Pratibha Nair: 14.09.2021
Pratibha Nair: 25.11.2020
Sayeeda Hana: 18.06.2019
Nada Assaf: 19.06.2013
Pratibha Nair: 02.06.2013
Tasneem Obeid: 06.06.2011
Pratibha Nair: 10.05.2011
Pratibha Nair: 10.12.2007
Eiman Ibrahim: 13.08.2007
Ghazi O. Tadmouri: 17.06.2006
Ghazi O. Tadmouri: 11.06.2005
Ghazi O. Tadmouri: 07.05.2005
Ghazi O. Tadmouri: 02.05.2005

Edit History

Asha Deepthi: 14.07.2022
Sayeeda Hana: 01.07.2022
Asha Deepthi: 24.11.2021
Pratibha Nair: 14.09.2021
Pratibha Nair: 25.11.2020
Sayeeda Hana: 15.09.2020
Sayeeda Hana: 20.06.2019
Sayeeda Hana: 19.06.2019
Sayeeda Hana: 18.06.2019
Pratibha Nair: 14.05.2015
Pratibha Nair: 25.06.2013
Tasneem Obeid: 24.05.2012
Pratibha Nair: 10.05.2011
Pratibha Nair: 01.05.2008
Pratibha Nair: 27.12.2007
Pratibha Nair: 28.12.2006
Pratibha Nair: 17.06.2006
Sarah Al-Haj Ali: 13.07.2005
Sarah Al-Haj Ali: 15.05.2005
Sarah Al-Haj Ali: 03.05.2005

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