KEGG   Homo sapiens (human): 23102
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)
SSDB
Motif
Pfam: RabGAP-TBC PH KRAB NBP1 PH_11 PH_8 HIP1_clath_bdg
Other DBs
NCBI-GeneID: 23102
NCBI-ProteinID: NP_653173
OMIM: 619152
HGNC: 29183
Ensembl: ENSG00000167202
UniProt: Q9UPU7 B2RTQ2
Position
15:complement(77994985..78077711)
AA seq 963 aa
MPGAGARAEEGGGGGEGAAQGAAAEPGAGPAREPARLCGYLQKLSGKGPLRGYRSRWFVF
DARRCYLYYFKSPQDALPLGHLDIADACFSYQGPDEAAEPGTEPPAHFQVHSAGAVTVLK
APNRQLMTYWLQELQQKRWEYCNSLDMVKWDSRTSPTPGDFPKGLVARDNTDLIYPHPNA
SAEKARNVLAVETVPGELVGEQAANQPAPGHPNSINFYSLKQWGNELKNSMSSFRPGRGH
NDSRRTVFYTNEEWELLDPTPKDLEESIVQEEKKKLTPEGNKGVTGSGFPFDFGRNPYKG
KRPLKDIIGSYKNRHSSGDPSSEGTSGSGSVSIRKPASEMQLQVQSQQEELEQLKKDLSS
QKELVRLLQQTVRSSQYDKYFTSSRLCEGVPKDTLELLHQKDDQILGLTSQLERFSLEKE
SLQQEVRTLKSKVGELNEQLGMLMETIQAKDEVIIKLSEGEGNGPPPTVAPSSPSVVPVA
RDQLELDRLKDNLQGYKTQNKFLNKEILELSALRRNAERRERDLMAKYSSLEAKLCQIES
KYLILLQEMKTPVCSEDQGPTREVIAQLLEDALQVESQEQPEQAFVKPHLVSEYDIYGFR
TVPEDDEEEKLVAKVRALDLKTLYLTENQEVSTGVKWENYFASTVNREMMCSPELKNLIR
AGIPHEHRSKVWKWCVDRHTRKFKDNTEPGHFQTLLQKALEKQNPASKQIELDLLRTLPN
NKHYSCPTSEGIQKLRNVLLAFSWRNPDIGYCQGLNRLVAVALLYLEQEDAFWCLVTIVE
VFMPRDYYTKTLLGSQVDQRVFRDLMSEKLPRLHGHFEQYKVDYTLITFNWFLVVFVDSV
VSDILFKIWDSFLYEGPKVIFRFALALFKYKEEEILKLQDSMSIFKYLRYFTRTILDARK
LISISFGDLNPFPLRQIRNRRAYHLEKVRLELTELEAIREDFLRERDTSPDKGELVSDEE
EDT
NT seq 2892 nt   +upstreamnt  +downstreamnt
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

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (17)   
   KEGG ORTHOLOGY (1)   
   RefGene (11)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (25)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (22)   
DNA sequence (50)   
   RefSeq(nuc) (22)   
   GenBank (14)   
   EMBL (14)   
Protein domain (7)   
   Pfam (7)   
All databases (105)   

Download RDF
DBGET integrated database retrieval system