FGF12
entrez
2257
canonical
uniprot
P61328
canonical
ensembl
ENSG00000114279
resolver
ensp
ENSP00000393686
resolver
ensp
ENSP00000410125
resolver
ensp
ENSP00000412904
resolver
ensp
ENSP00000413496
resolver
ensp
ENSP00000506839
resolver
ensp
ENSP00000507149
resolver
enst
ENST00000430714
resolver
enst
ENST00000684282
resolver
enst
ENST00000684728
resolver
genesymbol
FGF12
resolver
genesymbol_syn
FGF12B
resolver
genesymbol_syn
FHF1
resolver
hgnc
HGNC:3668
resolver
uniprot
A0A804HIN2
resolver
uniprot
B2R6B7
resolver
uniprot
B2R976
resolver
uniprot
C9JEN8
resolver
uniprot
O35339
resolver
uniprot
P70376
resolver
uniprot
Q8TBG5
resolver
uniprot
Q92912
resolver
uniprot
Q93001
resolver
uniprot_entry
A0A804HIN2_HUMAN
resolver
uniprot_entry
C9JEN8_HUMAN
resolver
uniprot_entry
FGF12_HUMAN
resolver
uniprot_sec
B2R6B7
resolver
uniprot_sec
B2R976
resolver
uniprot_sec
O35339
resolver
uniprot_sec
P70376
resolver
uniprot_sec
Q8TBG5
resolver
uniprot_sec
Q92912
resolver
uniprot_sec
Q93001
resolver
amino_acid_sequence
MAAAIASSLIRQKRQARESNSDRVSASKRRSSPSKDGRSLCERHVLGVFSKVRFCSGRKRPVRRRPEPQLKGIVTRLFSQQGYFLQMHPDGTIDGTKDENSDYTLFNLIPVGLRVVAIQGVKASLYVAMNGEGYLYSSDVFTPECKFKESVFENYYVIYSSTLYRQQESGRAWFLGLNKEGQIMKGNRVKKTKPSSHFVPKPIEVCMYREPSLHEIGEKQGRSRKSSGTPTMNGGKVVNQDST
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 47 (DEE47) [MIM:617166]: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. {ECO:0000269|PubMed:27164707}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in nervous system development and function. Involved in the positive regulation of voltage-gated sodium channel activity. Promotes neuronal excitability by elevating the voltage dependence of neuronal sodium channel SCN8A fast inactivation. {ECO:0000269|PubMed:27164707}.
uniprot
proteins
mass_dalton
27399
uniprot
proteins
mutagenesis
MUTAGEN 114; /note="R->A: Gain of function, affects voltage dependence of SCN8A fast inactivation."; /evidence="ECO:0000269|PubMed:27164707"; MUTAGEN 114; /note="R->G: Gain of function, affects voltage dependence of SCN8A fast inactivation."; /evidence="ECO:0000269|PubMed:27164707
uniprot
proteins
protein_family
Heparin-binding growth factors family
uniprot
proteins
pubmed
10049777
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
27164707
uniprot
proteins
pubmed
8790420
uniprot
proteins
sequence_length
243
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
uniprot
proteins