FGF13
entrez
2258
canonical
uniprot
Q92913
canonical
ensembl
ENSG00000129682
resolver
ensp
ENSP00000303391
resolver
ensp
ENSP00000322390
resolver
ensp
ENSP00000396198
resolver
ensp
ENSP00000409276
resolver
ensp
ENSP00000487411
resolver
genesymbol
FGF13
resolver
genesymbol_syn
FHF2
resolver
hgnc
HGNC:3670
resolver
uniprot
A8K1P5
resolver
uniprot
B1AK18
resolver
uniprot
B7Z4M7
resolver
uniprot
B7Z8N0
resolver
uniprot
D3DWH4
resolver
uniprot
O95830
resolver
uniprot
Q9NZH9
resolver
uniprot
Q9NZI0
resolver
uniprot_entry
A8K1P5_HUMAN
resolver
uniprot_entry
FGF13_HUMAN
resolver
uniprot_sec
B1AK18
resolver
uniprot_sec
B7Z4M7
resolver
uniprot_sec
B7Z8N0
resolver
uniprot_sec
D3DWH4
resolver
uniprot_sec
O95830
resolver
uniprot_sec
Q9NZH9
resolver
uniprot_sec
Q9NZI0
resolver
amino_acid_sequence
MAAAIASSLIRQKRQAREREKSNACKCVSSPSKGKTSCDKNKLNVFSRVKLFGSKKRRRRRPEPQLKGIVTKLYSRQGYHLQLQADGTIDGTKDEDSTYTLFNLIPVGLRVVAIQGVQTKLYLAMNSEGYLYTSELFTPECKFKESVFENYYVTYSSMIYRQQQSGRGWYLGLNKEGEIMKGNHVKKNKPAAHFLPKPLKVAMYKEPSLHDLTEFSRSGSGTPTKSRSVSGVLNGGKSMSHNEST
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 90 (DEE90) [MIM:301058]: A form of epileptic encephalopathy, a heterogeneous group of 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. DEE90 is an X-linked form characterized by onset of refractory seizures in the first days or months of life. {ECO:0000269|PubMed:33245860, ECO:0000269|PubMed:34871784}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Intellectual developmental disorder, X-linked 110 (XLID110) [MIM:301095]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:34184986}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Microtubule-binding protein which directly binds tubulin and is involved in both polymerization and stabilization of microtubules (By similarity). Through its action on microtubules, may participate in the refinement of axons by negatively regulating axonal and leading processes branching (By similarity). Plays a crucial role in neuron polarization and migration in the cerebral cortex and the hippocampus (By similarity). Regulates voltage-gated sodium channel transport and function (PubMed:15282281, PubMed:33245860, PubMed:36696443). May also play a role in MAPK signaling (By similarity). Required for the development of axonal initial segment-targeting inhibitory GABAergic synapses made by chandelier neurons (By similarity). {ECO:0000250|UniProtKB:P70377, ECO:0000269|PubMed:15282281, ECO:0000269|PubMed:33245860, ECO:0000269|PubMed:36696443}.
uniprot
proteins
mass_dalton
27564
uniprot
proteins
mutagenesis
MUTAGEN 207; /note="P->Q: Loss of interaction with SCN1A."; /evidence="ECO:0000269|PubMed:21566136
uniprot
proteins
post_translational_modification
PTM: May be phosphorylated. {ECO:0000250}.
uniprot
proteins
protein_family
Heparin-binding growth factors family
uniprot
proteins
pubmed
10071193
uniprot
proteins
pubmed
10644718
uniprot
proteins
pubmed
11378392
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15282281
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
19406745
uniprot
proteins
pubmed
21566136
uniprot
proteins
pubmed
21817159
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
33245860
uniprot
proteins
pubmed
34184986
uniprot
proteins
pubmed
34871784
uniprot
proteins
pubmed
36696443
uniprot
proteins
pubmed
8790420
uniprot
proteins
pubmed
9232594
uniprot
proteins
sequence_length
245
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Nucleus {ECO:0000269|PubMed:10644718}.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm {ECO:0000269|PubMed:10644718}. Nucleus {ECO:0000269|PubMed:10644718}.; SUBCELLULAR LOCATION: [Isoform 3]: Cytoplasm {ECO:0000305|PubMed:10644718}. Nucleus {ECO:0000305|PubMed:10644718}.; SUBCELLULAR LOCATION: [Isoform 4]: Cytoplasm {ECO:0000250|UniProtKB:P61329}. Nucleus {ECO:0000250|UniProtKB:P61329}.; SUBCELLULAR LOCATION: [Isoform 5]: Cytoplasm {ECO:0000250|UniProtKB:P61329}. Nucleus {ECO:0000250|UniProtKB:P61329}.; SUBCELLULAR LOCATION: Cell projection, filopodium {ECO:0000250|UniProtKB:P70377}. Cell projection, growth cone {ECO:0000250|UniProtKB:P70377}. Cell projection, dendrite {ECO:0000250|UniProtKB:P70377}. Cell membrane, sarcolemma {ECO:0000250|UniProtKB:P70377}. Cytoplasm {ECO:0000250|UniProtKB:P70377}. Note=Not secreted. Localizes to the lateral membrane and intercalated disks of myocytes. {ECO:0000250|UniProtKB:P70377}.
uniprot
proteins