GenTIGS

Fibroblast growth factor receptor 2 (FGFR2) Associated conditions: 1. Acrocephalosyndactyly 2. Pfeiffer syndrome

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_000141.5	NP_000132.3	NC_000010.11	(121478329..121598457, complement)	Reference GRCh38.p14 Primary Assembly	P21802
2	REVIEWED	NM_001144913.1	NP_001138385.1	NC_000010.11	(121478329..121598457, complement)	Reference GRCh38.p14 Primary Assembly	P21802
3	REVIEWED	NM_001144914.1	NP_001138386.1	NC_000010.11	(121478329..121598457, complement)	Reference GRCh38.p14 Primary Assembly	P21802
4	REVIEWED	NM_001144915.2	NP_001138387.1	NC_000010.11	(121478329..121598457, complement)	Reference GRCh38.p14 Primary Assembly	P21802
5	REVIEWED	NM_001144916.2	NP_001138388.1	NC_000010.11	(121478329..121598457, complement)	Reference GRCh38.p14 Primary Assembly	P21802
6	REVIEWED	NM_001144917.2	NP_001138389.1	NC_000010.11	(121478329..121598457, complement)	Reference GRCh38.p14 Primary Assembly	P21802
7	REVIEWED	NM_001144918.2	NP_001138390.1	NC_000010.11	(121478329..121598457, complement)	Reference GRCh38.p14 Primary Assembly	P21802
8	REVIEWED	NM_001144919.2	NP_001138391.1	NC_000010.11	(121478329..121598457, complement)	Reference GRCh38.p14 Primary Assembly	P21802
9	REVIEWED	NM_001320654.2	NP_001307583.1	NC_000010.11	(121478329..121598457, complement)	Reference GRCh38.p14 Primary Assembly	P21802
10	REVIEWED	NM_001320658.2	NP_001307587.1	NC_000010.11	(121478329..121598457, complement)	Reference GRCh38.p14 Primary Assembly	P21802
11	REVIEWED	NM_022970.4	NP_075259.4	NC_000010.11	(121478329..121598457, complement)	Reference GRCh38.p14 Primary Assembly	P21802
12	REVIEWED	NM_023029.2	NP_075418.1	NC_000010.11	(121478329..121598457, complement)	Reference GRCh38.p14 Primary Assembly	P21802
13	REVIEWED	NR_073009.2	-	NC_000010.11	(121478329..121598457, complement)	Reference GRCh38.p14 Primary Assembly	P21802

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 1693 reference articles

Variant Information Fibroblast growth factor receptor 2 (FGFR2) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of Fibroblast growth factor receptor 2 (FGFR2)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	ISS	involved_in	negative regulation of transcription by RNA polymerase II	Process	-
2	Homo sapiens	ISS	involved_in	angiogenesis	Process	-
3	Homo sapiens	ISS	involved_in	ureteric bud development	Process	-
4	Homo sapiens	ISS	involved_in	in utero embryonic development	Process	-
5	Homo sapiens	IEA	involved_in	epithelial to mesenchymal transition	Process	-
6	Homo sapiens	ISS	involved_in	positive regulation of mesenchymal cell proliferation	Process	-
7	Homo sapiens	ISS	involved_in	outflow tract septum morphogenesis	Process	-
8	Homo sapiens	ISS	involved_in	membranous septum morphogenesis	Process	-
9	Homo sapiens	IEA	involved_in	endochondral bone growth	Process	-
10	Homo sapiens	NAS	enables	protein tyrosine kinase activity	Function	1697263
11	Homo sapiens	IBA	enables	fibroblast growth factor receptor activity	Function	21873635
12	Homo sapiens	IDA	enables	fibroblast growth factor receptor activity	Function	8663044 15629145
13	Homo sapiens	IGI	enables	fibroblast growth factor receptor activity	Function	10830168
14	Homo sapiens	NAS	enables	fibroblast growth factor receptor activity	Function	1400433 1697263 8676562
15	Homo sapiens	IPI	enables	protein binding	Function	1309608 10618369 10830168 11390973 12591959 22726438 23597563 25241761 26267536 35384245
16	Homo sapiens	IEA	enables	ATP binding	Function	-
17	Homo sapiens	IEA	located_in	extracellular region	Component	-
18	Homo sapiens	IDA	located_in	nucleus	Component	16597614 17471512
19	Homo sapiens	IDA	located_in	cytoplasm	Component	16597614 17471512
20	Homo sapiens	IEA	located_in	Golgi apparatus	Component	-
21	Homo sapiens	IDA	located_in	plasma membrane	Component	15629145 16844695
22	Homo sapiens	TAS	located_in	plasma membrane	Component	-
23	Homo sapiens	IDA	located_in	cell cortex	Component	17471512
24	Homo sapiens	IEA	involved_in	apoptotic process	Process	-
25	Homo sapiens	IBA	involved_in	transmembrane receptor protein tyrosine kinase signaling pathway	Process	21873635
26	Homo sapiens	ISS	involved_in	cell-cell signaling	Process	-
27	Homo sapiens	IBA	involved_in	multicellular organism development	Process	21873635
28	Homo sapiens	ISS	involved_in	axonogenesis	Process	-
29	Homo sapiens	IEA	enables	heparin binding	Function	-
30	Homo sapiens	IDA	involved_in	positive regulation of cell population proliferation	Process	8663044
31	Homo sapiens	IGI	acts_upstream_of_or_within	positive regulation of cell population proliferation	Process	8663044
32	Homo sapiens	IMP	involved_in	positive regulation of cell population proliferation	Process	15629145
33	Homo sapiens	IDA	involved_in	fibroblast growth factor receptor signaling pathway	Process	8663044 15629145
34	Homo sapiens	IGI	acts_upstream_of_or_within	fibroblast growth factor receptor signaling pathway	Process	8663044
35	Homo sapiens	IPI	acts_upstream_of_or_within	fibroblast growth factor receptor signaling pathway	Process	10830168
36	Homo sapiens	ISS	involved_in	regulation of smoothened signaling pathway	Process	-
37	Homo sapiens	ISS	involved_in	post-embryonic development	Process	-
38	Homo sapiens	ISS	involved_in	embryonic pattern specification	Process	-
39	Homo sapiens	ISS	involved_in	animal organ morphogenesis	Process	-
40	Homo sapiens	IDA	located_in	cell surface	Component	16597614
41	Homo sapiens	IMP	involved_in	positive regulation of phospholipase activity	Process	16844695
42	Homo sapiens	IMP	involved_in	negative regulation of keratinocyte proliferation	Process	21412257
43	Homo sapiens	NAS	located_in	membrane	Component	1697263 8676562
44	Homo sapiens	ISS	involved_in	morphogenesis of embryonic epithelium	Process	-
45	Homo sapiens	IBA	enables	fibroblast growth factor binding	Function	21873635
46	Homo sapiens	IDA	enables	fibroblast growth factor binding	Function	8663044
47	Homo sapiens	IPI	enables	fibroblast growth factor binding	Function	8386828
48	Homo sapiens	IDA	involved_in	peptidyl-tyrosine phosphorylation	Process	15629145 16844695
49	Homo sapiens	ISS	involved_in	orbitofrontal cortex development	Process	-
50	Homo sapiens	ISS	involved_in	ventricular zone neuroblast division	Process	-
51	Homo sapiens	ISS	involved_in	pyramidal neuron development	Process	-
52	Homo sapiens	ISS	involved_in	gland morphogenesis	Process	-
53	Homo sapiens	ISS	involved_in	positive regulation of Wnt signaling pathway	Process	-
54	Homo sapiens	ISS	involved_in	bone mineralization	Process	-
55	Homo sapiens	ISS	involved_in	lung development	Process	-
56	Homo sapiens	ISS	involved_in	epithelial cell differentiation	Process	-
57	Homo sapiens	ISS	involved_in	midbrain development	Process	-
58	Homo sapiens	ISS	involved_in	otic vesicle formation	Process	-
59	Homo sapiens	ISS	involved_in	hair follicle morphogenesis	Process	-
60	Homo sapiens	IEA	located_in	cytoplasmic vesicle	Component	-
61	Homo sapiens	IEA	involved_in	response to lipopolysaccharide	Process	-
62	Homo sapiens	ISS	involved_in	lacrimal gland development	Process	-
63	Homo sapiens	IBA	involved_in	positive regulation of kinase activity	Process	21873635
64	Homo sapiens	TAS	involved_in	regulation of osteoblast proliferation	Process	15190072
65	Homo sapiens	ISS	involved_in	organ growth	Process	-
66	Homo sapiens	ISS	involved_in	fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow cell	Process	-
67	Homo sapiens	ISS	involved_in	fibroblast growth factor receptor signaling pathway involved in hemopoiesis	Process	-
68	Homo sapiens	ISS	involved_in	fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow	Process	-
69	Homo sapiens	ISS	involved_in	fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development	Process	-
70	Homo sapiens	ISS	involved_in	inner ear morphogenesis	Process	-
71	Homo sapiens	ISS	involved_in	odontogenesis	Process	-
72	Homo sapiens	IPI	enables	protein homodimerization activity	Function	16844695
73	Homo sapiens	IBA	part_of	receptor complex	Component	21873635
74	Homo sapiens	IMP	involved_in	positive regulation of MAPK cascade	Process	15629145
75	Homo sapiens	ISS	involved_in	cell fate commitment	Process	-
76	Homo sapiens	IEA	involved_in	response to ethanol	Process	-
77	Homo sapiens	TAS	involved_in	regulation of osteoblast differentiation	Process	15190072
78	Homo sapiens	ISS	involved_in	positive regulation of cell cycle	Process	-
79	Homo sapiens	ISS	involved_in	positive regulation of transcription by RNA polymerase II	Process	-
80	Homo sapiens	IDA	involved_in	protein autophosphorylation	Process	15629145
81	Homo sapiens	ISS	involved_in	lung alveolus development	Process	-
82	Homo sapiens	IEA	involved_in	mesodermal cell differentiation	Process	-
83	Homo sapiens	ISS	involved_in	embryonic digestive tract morphogenesis	Process	-
84	Homo sapiens	ISS	involved_in	embryonic organ morphogenesis	Process	-
85	Homo sapiens	ISS	involved_in	digestive tract development	Process	-
86	Homo sapiens	ISS	involved_in	embryonic organ development	Process	-
87	Homo sapiens	ISS	involved_in	reproductive structure development	Process	-
88	Homo sapiens	IMP	involved_in	embryonic cranial skeleton morphogenesis	Process	7874170 7987400
89	Homo sapiens	TAS	involved_in	skeletal system morphogenesis	Process	15190072
90	Homo sapiens	ISS	involved_in	epidermis morphogenesis	Process	-
91	Homo sapiens	ISS	involved_in	branching morphogenesis of a nerve	Process	-
92	Homo sapiens	ISS	involved_in	mesenchymal cell differentiation	Process	-
93	Homo sapiens	ISS	involved_in	positive regulation of epithelial cell proliferation	Process	-
94	Homo sapiens	ISS	involved_in	regulation of smooth muscle cell differentiation	Process	-
95	Homo sapiens	ISS	involved_in	positive regulation of cell division	Process	-
96	Homo sapiens	ISS	involved_in	ventricular cardiac muscle tissue morphogenesis	Process	-
97	Homo sapiens	ISS	involved_in	positive regulation of cardiac muscle cell proliferation	Process	-
98	Homo sapiens	ISS	located_in	excitatory synapse	Component	-
99	Homo sapiens	ISS	involved_in	limb bud formation	Process	-
100	Homo sapiens	ISS	involved_in	bone development	Process	-
101	Homo sapiens	ISS	involved_in	bone morphogenesis	Process	-
102	Homo sapiens	ISS	involved_in	branching involved in prostate gland morphogenesis	Process	-
103	Homo sapiens	ISS	involved_in	branching involved in salivary gland morphogenesis	Process	-
104	Homo sapiens	ISS	involved_in	bud elongation involved in lung branching	Process	-
105	Homo sapiens	ISS	involved_in	lung lobe morphogenesis	Process	-
106	Homo sapiens	ISS	involved_in	lung-associated mesenchyme development	Process	-
107	Homo sapiens	ISS	involved_in	positive regulation of epithelial cell proliferation involved in lung morphogenesis	Process	-
108	Homo sapiens	ISS	involved_in	prostate gland morphogenesis	Process	-
109	Homo sapiens	ISS	involved_in	prostate epithelial cord elongation	Process	-
110	Homo sapiens	ISS	involved_in	prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis	Process	-
111	Homo sapiens	ISS	involved_in	squamous basal epithelial stem cell differentiation involved in prostate gland acinus development	Process	-
112	Homo sapiens	ISS	involved_in	fibroblast growth factor receptor signaling pathway involved in mammary gland specification	Process	-
113	Homo sapiens	ISS	involved_in	lateral sprouting from an epithelium	Process	-
114	Homo sapiens	ISS	involved_in	mammary gland bud formation	Process	-
115	Homo sapiens	ISS	involved_in	epithelial cell proliferation involved in salivary gland morphogenesis	Process	-
116	Homo sapiens	ISS	involved_in	branch elongation involved in salivary gland morphogenesis	Process	-
117	Homo sapiens	ISS	involved_in	branching involved in labyrinthine layer morphogenesis	Process	-
118	Homo sapiens	ISS	involved_in	regulation of morphogenesis of a branching structure	Process	-
119	Homo sapiens	ISS	involved_in	mesenchymal cell differentiation involved in lung development	Process	-
120	Homo sapiens	ISS	involved_in	mesenchymal cell proliferation involved in lung development	Process	-
121	Homo sapiens	IDA	colocalizes_with	collagen-containing extracellular matrix	Component	17959718
122	Homo sapiens	ISS	involved_in	regulation of ERK1 and ERK2 cascade	Process	-
123	Homo sapiens	ISS	involved_in	positive regulation of ERK1 and ERK2 cascade	Process	-
124	Homo sapiens	IEA	involved_in	cellular response to retinoic acid	Process	-
125	Homo sapiens	IEA	involved_in	cellular response to hypoxia	Process	-
126	Homo sapiens	IEA	involved_in	cellular response to transforming growth factor beta stimulus	Process	-
127	Homo sapiens	ISS	involved_in	positive regulation of canonical Wnt signaling pathway	Process	-
128	Homo sapiens	IEA	involved_in	positive regulation of vascular associated smooth muscle cell proliferation	Process	-