GenTIGS

Fibroblast growth factor receptor 3 (FGFR3) Associated conditions: 1. Achondroplasia 2. Thanatophoric dysplasia 3. Muenke syndrome 4. Multiple myeloma 5. Myeloproliferative disorder

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_000142.5	NP_000133.1	NC_000004.12	(1793292..1808866)	Reference GRCh38.p14 Primary Assembly	Q0IJ44
2	REVIEWED	NM_001163213.2	NP_001156685.1	NC_000004.12	(1793292..1808866)	Reference GRCh38.p14 Primary Assembly	Q0IJ44
3	REVIEWED	NM_001354809.2	NP_001341738.1	NC_000004.12	(1793292..1808866)	Reference GRCh38.p14 Primary Assembly	Q0IJ44
4	REVIEWED	NM_001354810.2	NP_001341739.1	NC_000004.12	(1793292..1808866)	Reference GRCh38.p14 Primary Assembly	Q0IJ44
5	REVIEWED	NM_022965.4	NP_075254.1	NC_000004.12	(1793292..1808866)	Reference GRCh38.p14 Primary Assembly	Q0IJ44
6	REVIEWED	NR_148971.2	-	NC_000004.12	(1793292..1808866)	Reference GRCh38.p14 Primary Assembly	Q0IJ44

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1596 reference articles

Variant Information Fibroblast growth factor receptor 3 (FGFR3) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of Fibroblast growth factor receptor 3 (FGFR3)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	TAS	involved_in	MAPK cascade	Process	10918587
2	Homo sapiens	TAS	involved_in	skeletal system development	Process	8601314
3	Homo sapiens	TAS	involved_in	endochondral ossification	Process	15748888
4	Homo sapiens	TAS	involved_in	chondrocyte differentiation	Process	15748888
5	Homo sapiens	TAS	involved_in	endochondral bone growth	Process	15748888
6	Homo sapiens	IDA	enables	protein tyrosine kinase activity	Function	11294897
7	Homo sapiens	IBA	enables	fibroblast growth factor receptor activity	Function	21873635
8	Homo sapiens	IMP	enables	fibroblast growth factor receptor activity	Function	8663044
9	Homo sapiens	IPI	enables	protein binding	Function	14732692 16169070 22939624 25036637 32814053 35384245
10	Homo sapiens	IEA	enables	ATP binding	Function	-
11	Homo sapiens	IEA	located_in	extracellular region	Component	-
12	Homo sapiens	IDA	located_in	endoplasmic reticulum	Component	-
13	Homo sapiens	IDA	located_in	Golgi apparatus	Component	18061161
14	Homo sapiens	IDA	located_in	plasma membrane	Component	8663044 18061161
15	Homo sapiens	TAS	located_in	plasma membrane	Component	-
16	Homo sapiens	TAS	colocalizes_with	focal adhesion	Component	15748888
17	Homo sapiens	IBA	involved_in	transmembrane receptor protein tyrosine kinase signaling pathway	Process	21873635
18	Homo sapiens	IEA	involved_in	cell-cell signaling	Process	-
19	Homo sapiens	IBA	involved_in	multicellular organism development	Process	21873635
20	Homo sapiens	IGI	acts_upstream_of_or_within	positive regulation of cell population proliferation	Process	8663044
21	Homo sapiens	IMP	involved_in	positive regulation of cell population proliferation	Process	8663044 11294897
22	Homo sapiens	IDA	involved_in	fibroblast growth factor receptor signaling pathway	Process	8663044
23	Homo sapiens	IGI	acts_upstream_of_or_within	fibroblast growth factor receptor signaling pathway	Process	8663044
24	Homo sapiens	IEA	located_in	cell surface	Component	-
25	Homo sapiens	IMP	involved_in	positive regulation of phospholipase activity	Process	17561467
26	Homo sapiens	IBA	enables	fibroblast growth factor binding	Function	21873635
27	Homo sapiens	IDA	enables	fibroblast growth factor binding	Function	8663044
28	Homo sapiens	IDA	involved_in	peptidyl-tyrosine phosphorylation	Process	11294897
29	Homo sapiens	IDA	located_in	transport vesicle	Component	18061161
30	Homo sapiens	ISS	involved_in	bone mineralization	Process	20582225
31	Homo sapiens	IBA	involved_in	positive regulation of kinase activity	Process	21873635
32	Homo sapiens	TAS	involved_in	chondrocyte proliferation	Process	15748888
33	Homo sapiens	IMP	involved_in	positive regulation of tyrosine phosphorylation of STAT protein	Process	11294897 17561467
34	Homo sapiens	IPI	enables	identical protein binding	Function	14732692 23972473 24120763
35	Homo sapiens	IBA	part_of	receptor complex	Component	21873635
36	Homo sapiens	IBA	involved_in	positive regulation of MAPK cascade	Process	21873635
37	Homo sapiens	IMP	involved_in	positive regulation of MAPK cascade	Process	11294897
38	Homo sapiens	IMP	involved_in	positive regulation of phosphatidylinositol 3-kinase activity	Process	11294897
39	Homo sapiens	TAS	involved_in	positive regulation of phosphatidylinositol 3-kinase activity	Process	15748888
40	Homo sapiens	IDA	involved_in	protein autophosphorylation	Process	11294897
41	Homo sapiens	ISS	involved_in	negative regulation of developmental growth	Process	20582225
42	Homo sapiens	ISS	involved_in	bone morphogenesis	Process	20582225
43	Homo sapiens	TAS	involved_in	bone morphogenesis	Process	15748888
44	Homo sapiens	IMP	involved_in	positive regulation of ERK1 and ERK2 cascade	Process	11294897
45	Homo sapiens	ISS	involved_in	bone maturation	Process	20582225
46	Homo sapiens	IMP	involved_in	fibroblast growth factor receptor apoptotic signaling pathway	Process	17561467