FGF3
entrez
2248
canonical
uniprot
P11487
canonical
ensembl
ENSG00000186895
resolver
ensp
ENSP00000334122
resolver
enst
ENST00000334134
resolver
genesymbol
FGF3
resolver
genesymbol_syn
INT2
resolver
hgnc
HGNC:3681
resolver
uniprot
Q0VG69
resolver
uniprot_entry
FGF3_HUMAN
resolver
uniprot_sec
Q0VG69
resolver
amino_acid_sequence
MGLIWLLLLSLLEPGWPAAGPGARLRRDAGGRGGVYEHLGGAPRRRKLYCATKYHLQLHPSGRVNGSLENSAYSILEITAVEVGIVAIRGLFSGRYLAMNKRGRLYASEHYSAECEFVERIHELGYNTYASRLYRTVSSTPGARRQPSAERLWYVSVNGKGRPRRGFKTRRTQKSSLFLPRVLDHRDHEMVRQLQSGLPRPPGKGVQPRRRRQKQSPDNLEPSHVQASRLGSQLEASAH
uniprot
proteins
disease_involvement
DISEASE: Deafness with labyrinthine aplasia, microtia and microdontia (LAMM) [MIM:610706]: Unique autosomal recessive syndrome characterized by type I microtia, microdontia, and profound congenital deafness associated with a complete absence of inner ear structures (Michel aplasia). {ECO:0000269|PubMed:17236138, ECO:0000269|PubMed:18435799}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays an important role in the regulation of embryonic development, cell proliferation, and cell differentiation. Required for normal ear development. {ECO:0000269|PubMed:8663044}.
uniprot
proteins
mass_dalton
26887
uniprot
proteins
protein_family
Heparin-binding growth factors family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17236138
uniprot
proteins
pubmed
18435799
uniprot
proteins
pubmed
20094046
uniprot
proteins
pubmed
2470007
uniprot
proteins
pubmed
8663044
uniprot
proteins
sequence_length
239
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
uniprot
proteins