Homo sapiens (human): 23102
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Entry
23102 CDS
T01001
Symbol
TBC1D2B, NEDSGO
Name
(RefSeq) TBC1 domain family member 2B
KO
K20166
TBC1 domain family member 2B
Organism
hsa
Homo sapiens (human)
Disease
H02459
Syndromic neurodevelopmental disorder
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09182 Protein families: genetic information processing
04131 Membrane trafficking [BR:
hsa04131
]
23102 (TBC1D2B)
Membrane trafficking [BR:
hsa04131
]
Protein recycling
Rab GTPases and associated proteins
Other Rab GTPase associated proteins
23102 (TBC1D2B)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
RabGAP-TBC
RabGap-TBC_2
PH
DUF7491
KRAB
NBP1
PH_11
HIP1_clath_bdg
PH_8
XLF_CC
Motif
Other DBs
NCBI-GeneID:
23102
NCBI-ProteinID:
NP_653173
OMIM:
619152
HGNC:
29183
Ensembl:
ENSG00000167202
UniProt:
Q9UPU7
B2RTQ2
LinkDB
All DBs
Position
15:complement(77994985..78077711)
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AA seq
963 aa
AA seq
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MPGAGARAEEGGGGGEGAAQGAAAEPGAGPAREPARLCGYLQKLSGKGPLRGYRSRWFVF
DARRCYLYYFKSPQDALPLGHLDIADACFSYQGPDEAAEPGTEPPAHFQVHSAGAVTVLK
APNRQLMTYWLQELQQKRWEYCNSLDMVKWDSRTSPTPGDFPKGLVARDNTDLIYPHPNA
SAEKARNVLAVETVPGELVGEQAANQPAPGHPNSINFYSLKQWGNELKNSMSSFRPGRGH
NDSRRTVFYTNEEWELLDPTPKDLEESIVQEEKKKLTPEGNKGVTGSGFPFDFGRNPYKG
KRPLKDIIGSYKNRHSSGDPSSEGTSGSGSVSIRKPASEMQLQVQSQQEELEQLKKDLSS
QKELVRLLQQTVRSSQYDKYFTSSRLCEGVPKDTLELLHQKDDQILGLTSQLERFSLEKE
SLQQEVRTLKSKVGELNEQLGMLMETIQAKDEVIIKLSEGEGNGPPPTVAPSSPSVVPVA
RDQLELDRLKDNLQGYKTQNKFLNKEILELSALRRNAERRERDLMAKYSSLEAKLCQIES
KYLILLQEMKTPVCSEDQGPTREVIAQLLEDALQVESQEQPEQAFVKPHLVSEYDIYGFR
TVPEDDEEEKLVAKVRALDLKTLYLTENQEVSTGVKWENYFASTVNREMMCSPELKNLIR
AGIPHEHRSKVWKWCVDRHTRKFKDNTEPGHFQTLLQKALEKQNPASKQIELDLLRTLPN
NKHYSCPTSEGIQKLRNVLLAFSWRNPDIGYCQGLNRLVAVALLYLEQEDAFWCLVTIVE
VFMPRDYYTKTLLGSQVDQRVFRDLMSEKLPRLHGHFEQYKVDYTLITFNWFLVVFVDSV
VSDILFKIWDSFLYEGPKVIFRFALALFKYKEEEILKLQDSMSIFKYLRYFTRTILDARK
LISISFGDLNPFPLRQIRNRRAYHLEKVRLELTELEAIREDFLRERDTSPDKGELVSDEE
EDT
NT seq
2892 nt
NT seq
+upstream
nt +downstream
nt
atgccgggggccggagcccgggcggaggagggcggcggcggcggcgagggcgcggcgcag
ggggcggccgcggagcccggggcgggtccggcgcgggagccagcgcggctgtgtggctat
ctgcagaagctgtcgggcaagggccccctgcgtggctaccgcagccgctggttcgtgttc
gacgcgcgccgctgctacctttactatttcaagagtccgcaggacgcgctgcccctcggc
cacttggacatcgcggacgcctgcttcagctaccagggccccgacgaggcggcggagccg
ggcacggagccgcccgcgcacttccaggtgcacagcgcgggagccgtcacggtgctcaag
gctcccaatcgtcaactcatgacttactggttacaggagcttcagcagaagagatgggaa
tattgtaacagtcttgacatggtcaagtgggacagcaggacctctccaactcccggggat
tttcctaagggtcttgtagccagagataacactgatttaatttacccacacccaaatgct
tctgcagaaaaagccagaaatgtcctagctgtggagactgtgcctggagagctggtggga
gaacaagctgcaaatcagcccgccccagggcatccaaattccattaatttttactctttg
aaacagtggggcaatgagctcaagaattcgatgtcttctttccgtcctgggagaggacat
aatgatagtcggaggactgtgttttataccaatgaagagtgggaacttttagacccaacc
cctaaggacctagaggagtccatagtacaggaagaaaagaagaagctgacccctgaagga
aacaaaggagtaactggctcaggattcccctttgattttggacgtaacccctacaaagga
aagcgccctttgaaagacataattgggtcgtacaaaaatcgtcacagcagtggtgaccct
tcaagtgaaggcacatcaggcagtggcagcgtcagcatcaggaagccggcctccgaaatg
caactgcaggtccagagccagcaggaagagctggaacagttaaagaaagacctgtccagt
cagaaggagcttgttcgactgctccagcagacagtccggtcatcccagtatgacaagtat
ttcacaagcagccggctctgtgagggggtcccaaaggacacgctcgagcttctgcaccaa
aaggatgatcagattctgggccttaccagccagctggagaggttcagcttggagaaggag
agtcttcagcaggaagtaaggacgctgaagagcaaagtgggcgagctcaacgagcagctg
ggaatgctcatggagaccatccaagccaaggacgaggtcatcatcaagctcagcgagggc
gagggcaacgggcctcctcccaccgtggcgcccagctccccttcggttgtgcctgttgcc
agggaccagctggaactggacaggctgaaagataatctacaggggtacaaaacccaaaac
aaatttctaaataaggagattttggaactctcagctctacgaagaaatgcagaaaggaga
gagagggatctgatggcaaagtattctagcctggaagccaagctctgccagatagaaagt
aaatacctgatattgctccaagaaatgaagacaccagtgtgctcagaagaccaggggccc
acccgggaggtcatagcccagttgctggaggatgctctgcaggttgagagccaagagcag
ccggagcaagcatttgttaaacctcatcttgtcagtgaatatgatatttatgggttcagg
actgtacctgaggatgatgaggaagagaaattggttgccaaggtccgcgcgttggatctg
aagactctctacctcacagaaaaccaggaagtctccactggggtcaagtgggaaaactat
tttgcaagtacagtgaacagggagatgatgtgctctccagagttaaaaaacctcatccgt
gcgggcattccccacgagcaccgttccaaggtgtggaagtggtgtgtggaccgtcacacc
aggaagttcaaggacaacactgagcctggccacttccagaccttgctgcagaaggcgctg
gagaaacagaacccagcctccaagcagattgagctggacttgctgcgaactctgcccaac
aacaaacattactcctgccccacctcagaaggcatacagaagttacgcaatgtcctcctc
gccttctcctggcggaatccagatatcggctactgtcaaggcctaaacaggttggtggca
gtggccctcctgtacctggaacaagaagatgctttctggtgtctcgttaccatagtggaa
gttttcatgcctcgagactattatacaaagactcttttaggatcccaggtggaccagcgg
gtgttcagagaccttatgagtgagaagctgcctcggttgcatggccactttgaacagtac
aaagtcgactacactctcatcactttcaactggtttctggtggtatttgtggatagtgtc
gttagtgacatcctctttaaaatatgggactctttcctttatgaaggaccaaaggttatt
ttccgttttgctctggcactttttaagtacaaggaagaggagattttgaaattgcaagat
tcgatgtctatatttaagtatctccgctacttcactcgcactatccttgatgctaggaag
ctgatcagtatctcctttggggacctgaaccctttccccctacgccagatccggaaccga
cgcgcctaccacttggagaaagtccggctggagctgaccgagctggaggccatccgtgag
gacttcctgcgtgagcgggacaccagccctgacaagggtgagctggtcagtgacgaggag
gaggatacctga
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