FGF14
entrez
2259
canonical
uniprot
Q92915
canonical
ensembl
ENSG00000102466
resolver
ensp
ENSP00000365301
resolver
ensp
ENSP00000365313
resolver
ensp
ENSP00000516414
resolver
ensp
ENSP00000516417
resolver
enst
ENST00000418923
resolver
enst
ENST00000706494
resolver
genesymbol
FGF14
resolver
genesymbol_syn
FHF4
resolver
hgnc
HGNC:3671
resolver
uniprot
A0A9L9PX77
resolver
uniprot
A0A9L9PXK7
resolver
uniprot
Q86YN7
resolver
uniprot
Q96QX6
resolver
uniprot_entry
A0A9L9PX77_HUMAN
resolver
uniprot_entry
A0A9L9PXK7_HUMAN
resolver
uniprot_entry
FGF14_HUMAN
resolver
uniprot_sec
Q86YN7
resolver
uniprot_sec
Q96QX6
resolver
amino_acid_sequence
MAAAIASGLIRQKRQAREQHWDRPSASRRRSSPSKNRGLCNGNLVDIFSKVRIFGLKKRRLRRQDPQLKGIVTRLYCRQGYYLQMHPDGALDGTKDDSTNSTLFNLIPVGLRVVAIQGVKTGLYIAMNGEGYLYPSELFTPECKFKESVFENYYVIYSSMLYRQQESGRAWFLGLNKEGQAMKGNRVKKTKPAAHFLPKPLEVAMYREPSLHDVGETVPKPGVTPSKSTSASAIMNGGKPVNKSKTT
uniprot
proteins
disease_involvement
DISEASE: Spinocerebellar ataxia 27A (SCA27A) [MIM:193003]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA27A is an autosomal dominant, slowly progressive form characterized by gait disturbances, ataxia with tremor, dysarthria, orofacial dyskinesia, gaze-evoked nystagmus, and learning disabilities. There is significant variability, and patients show various combinations of neurologic features. {ECO:0000269|PubMed:12489043, ECO:0000269|PubMed:32162847}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Spinocerebellar ataxia 27B, late-onset (SCA27B) [MIM:620174]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA27B is an autosomal dominant, slowly progressive form characterized by the onset of gait and appendicular ataxia in adulthood. {ECO:0000269|PubMed:36493768, ECO:0000269|PubMed:36516086}. Note=The disease is caused by variants affecting the gene represented in this entry. SCA27B is caused by GAA(n) trinucleotide repeat expansions with a size above 250 repeats in FGF14 intron 1. Expansions ranging from 250 to 300 repeats are pathogenic albeit with reduced penetrance, whereas those above 300 are fully penetrant. {ECO:0000269|PubMed:36493768, ECO:0000269|PubMed:36516086}.
uniprot
proteins
function
FUNCTION: Probably involved in nervous system development and function.
uniprot
proteins
mass_dalton
27702
uniprot
proteins
protein_family
Heparin-binding growth factors family
uniprot
proteins
pubmed
12364586
uniprot
proteins
pubmed
12489043
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15470364
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
26900580
uniprot
proteins
pubmed
32162847
uniprot
proteins
pubmed
36493768
uniprot
proteins
pubmed
36516086
uniprot
proteins
pubmed
8790420
uniprot
proteins
sequence_length
247
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
uniprot
proteins