TBC1D2B
entrez
23102
canonical
uniprot
Q9UPU7
canonical
ensembl
ENSG00000167202
resolver
ensp
ENSP00000300584
resolver
ensp
ENSP00000387165
resolver
ensp
ENSP00000606559
resolver
ensp
ENSP00000689629
resolver
genesymbol
TBC1D2B
resolver
genesymbol_syn
KIAA1055
resolver
hgnc
HGNC:29183
resolver
uniprot
A7MD42
resolver
uniprot
B2RTQ2
resolver
uniprot
Q8N1F9
resolver
uniprot
Q9NXM0
resolver
uniprot_entry
B2RTQ2_HUMAN
resolver
uniprot_entry
TBD2B_HUMAN
resolver
uniprot_sec
A7MD42
resolver
uniprot_sec
Q8N1F9
resolver
uniprot_sec
Q9NXM0
resolver
amino_acid_sequence
MPGAGARAEEGGGGGEGAAQGAAAEPGAGPAREPARLCGYLQKLSGKGPLRGYRSRWFVFDARRCYLYYFKSPQDALPLGHLDIADACFSYQGPDEAAEPGTEPPAHFQVHSAGAVTVLKAPNRQLMTYWLQELQQKRWEYCNSLDMVKWDSRTSPTPGDFPKGLVARDNTDLIYPHPNASAEKARNVLAVETVPGELVGEQAANQPAPGHPNSINFYSLKQWGNELKNSMSSFRPGRGHNDSRRTVFYTNEEWELLDPTPKDLEESIVQEEKKKLTPEGNKGVTGSGFPFDFGRNPYKGKRPLKDIIGSYKNRHSSGDPSSEGTSGSGSVSIRKPASEMQLQVQSQQEELEQLKKDLSSQKELVRLLQQTVRSSQYDKYFTSSRLCEGVPKDTLELLHQKDDQILGLTSQLERFSLEKESLQQEVRTLKSKVGELNEQLGMLMETIQAKDEVIIKLSEGEGNGPPPTVAPSSPSVVPVARDQLELDRLKDNLQGYKTQNKFLNKEILELSALRRNAERRERDLMAKYSSLEAKLCQIESKYLILLQEMKTPVCSEDQGPTREVIAQLLEDALQVESQEQPEQAFVKPHLVSEYDIYGFRTVPEDDEEEKLVAKVRALDLKTLYLTENQEVSTGVKWENYFASTVNREMMCSPELKNLIRAGIPHEHRSKVWKWCVDRHTRKFKDNTEPGHFQTLLQKALEKQNPASKQIELDLLRTLPNNKHYSCPTSEGIQKLRNVLLAFSWRNPDIGYCQGLNRLVAVALLYLEQEDAFWCLVTIVEVFMPRDYYTKTLLGSQVDQRVFRDLMSEKLPRLHGHFEQYKVDYTLITFNWFLVVFVDSVVSDILFKIWDSFLYEGPKVIFRFALALFKYKEEEILKLQDSMSIFKYLRYFTRTILDARKLISISFGDLNPFPLRQIRNRRAYHLEKVRLELTELEAIREDFLRERDTSPDKGELVSDEEEDT
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO) [MIM:619323]: An autosomal recessive disorder with variable clinical manifestations including delayed development, hypotonia, seizures, gingival hypertrophy associated with a prominent mandible or cherubism in the first years of life. Some patients have early normal development followed by developmental regression. Additional variable features are coarse facial features, optic atrophy, sensorineural hearing loss, and ataxia. Brain imaging may show cerebellar or cerebral atrophy and enlarged ventricles. {ECO:0000269|PubMed:32623794, ECO:0000269|PubMed:38374468}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: GTPase-activating protein that plays a role in the early steps of endocytosis (PubMed:32623794). {ECO:0000269|PubMed:32623794}.
uniprot
proteins
mass_dalton
109880
uniprot
proteins
pubmed
10470851
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
18318008
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
32623794
uniprot
proteins
pubmed
38374468
uniprot
proteins
sequence_length
963
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Early endosome {ECO:0000269|PubMed:32623794}.
uniprot
proteins