FGF4
entrez
2249
canonical
uniprot
P08620
canonical
ensembl
ENSG00000075388
resolver
ensp
ENSP00000168712
resolver
genesymbol
FGF4
resolver
genesymbol_syn
HST
resolver
genesymbol_syn
HSTF1
resolver
genesymbol_syn
KS3
resolver
hgnc
HGNC:3682
resolver
uniprot
B7U994
resolver
uniprot_entry
FGF4_HUMAN
resolver
uniprot_sec
B7U994
resolver
amino_acid_sequence
MSGPGTAAVALLPAVLLALLAPWAGRGGAAAPTAPNGTLEAELERRWESLVALSLARLPVAAQPKEAAVQSGAGDYLLGIKRLRRLYCNVGIGFHLQALPDGRIGGAHADTRDSLLELSPVERGVVSIFGVASRFFVAMSSKGKLYGSPFFTDECTFKEILLPNNYNAYESYKYPGMFIALSKNGKTKKGNRVSPTMKVTHFLPRL
uniprot
proteins
disease_involvement
DISEASE: Short-rib thoracic dysplasia 22 without polydactyly (SRTD22) [MIM:621260]: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. SRTD22 is a form characterized by short ribs, abnormally narrow chest, and respiratory insufficiency, without other diagnostic clinical or radiological signs. {ECO:0000269|PubMed:40259859}. Note=The disease may be 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 limb and cardiac valve development during embryogenesis. May play a role in embryonic molar tooth bud development via inducing the expression of MSX1, MSX2 and MSX1-mediated expression of SDC1 in dental mesenchyme cells (By similarity). {ECO:0000250|UniProtKB:P11403, ECO:0000269|PubMed:8663044}.
uniprot
proteins
mass_dalton
22048
uniprot
proteins
protein_family
Heparin-binding growth factors family
uniprot
proteins
pubmed
11486033
uniprot
proteins
pubmed
18192227
uniprot
proteins
pubmed
20094046
uniprot
proteins
pubmed
2953031
uniprot
proteins
pubmed
2957062
uniprot
proteins
pubmed
2959959
uniprot
proteins
pubmed
40259859
uniprot
proteins
pubmed
8663044
uniprot
proteins
sequence_length
206
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
uniprot
proteins