TMEM240
entrez
339453
canonical
uniprot
Q5SV17
canonical
ensembl
ENSG00000205090
resolver
ensp
ENSP00000368007
resolver
enst
ENST00000378733
resolver
genesymbol
TMEM240
resolver
genesymbol_syn
C1orf70
resolver
hgnc
HGNC:25186
resolver
uniprot
B9EJG7
resolver
uniprot_entry
TM240_HUMAN
resolver
uniprot_sec
B9EJG7
resolver
amino_acid_sequence
MSMSANTMIFMILGASVVMAIACLMDMNALLDRFHNYILPHLRGEDRVCHCNCGRHHIHYVIPYDGDQSVVDASENYFVTDSVTKQEIDLMLGLLLGFCISWFLVWMDGVLHCAVRAWRAGRRYDGSWTWLPKLCSLRELGRRPHRPFEEAAGNMVHVKQKLYHNGHPSPRHL
uniprot
proteins
disease_involvement
DISEASE: Spinocerebellar ataxia 21 (SCA21) [MIM:607454]: 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. SCA21 is characterized by onset in the first decades of life of slowly progressive relatively mild cerebellar ataxia associated with slight extrapyramidal features predominant in older patients and cognitive impairment predominant in younger patients. {ECO:0000269|PubMed:25070513, ECO:0000269|PubMed:29053796}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
mass_dalton
19908
uniprot
proteins
protein_family
TMEM240 family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
25070513
uniprot
proteins
pubmed
29053796
uniprot
proteins
sequence_length
173
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Synapse {ECO:0000250|UniProtKB:B2RWJ3}. Cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 5..25; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 90..110; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins