KEGG T01001: 26608

Homo sapiens (human): 26608

Entry

26608 CDS T01001

Gene name

TBL2, WBSCR13, WS-betaTRP

Definition

(RefSeq) transducin beta like 2

Organism

hsa Homo sapiens (human)

Disease

H01439

Williams-Beuren syndrome

SSDB

Motif

Pfam:

WD40 ANAPC4_WD40 eIF2A FdsD RMI1_C

Other DBs

NCBI-GeneID:

NCBI-ProteinID:

OMIM:

HGNC:

Ensembl:

Vega:

Pharos:

Q9Y4P3(Tbio)

UniProt:

Q9Y4P3

Position

7q11.23

AA seq 447 aa
MELSQMSELMGLSVLLGLLALMATAAVARGWLRAGEERSGRPACQKANGFPPDKSSGSKK
QKQYQRIRKEKPQQHNFTHRLLAAALKSHSGNISCMDFSSNGKYLATCADDRTIRIWSTK
DFLQREHRSMRANVELDHATLVRFSPDCRAFIVWLANGDTLRVFKMTKREDGGYTFTATP
EDFPKKHKAPVIDIGIANTGKFIMTASSDTTVLIWSLKGQVLSTINTNQMNNTHAAVSPC
GRFVASCGFTPDVKVWEVCFGKKGEFQEVVRAFELKGHSAAVHSFAFSNDSRRMASVSKD
GTWKLWDTDVEYKKKQDPYLLKTGRFEEAAGAAPCRLALSPNAQVLALASGSSIHLYNTR
RGEKEECFERVHGECIANLSFDITGRFLASCGDRAVRLFHNTPGHRAMVEEMQGHLKRAS
NESTRQRLQQQLTQAQETLKSLGALKK

NT seq 1344 nt +upstreamnt +downstreamnt
atggagctctcgcagatgtcggagctcatggggctgtcggtgttgcttgggctgctggcc
ctgatggcgacggcggcggtagcgcgggggtggctgcgcgcgggggaggagaggagcggc
cggcccgcctgccaaaaagcaaatggatttccacctgacaaatcttcgggatccaagaag
cagaaacaatatcagcggattcggaaggagaagcctcaacaacacaacttcacccaccgc
ctcctggctgcagctctgaagagccacagcgggaacatatcttgcatggactttagcagc
aatggcaaatacctggctacctgtgcagatgatcgcaccatccgcatctggagcaccaag
gacttcctgcagcgagagcaccgcagcatgagagccaacgtggagctggaccacgccacc
ctggtgcgcttcagccctgactgcagagccttcatcgtctggctggccaacggggacacc
ctccgtgtcttcaagatgaccaagcgggaggatgggggctacaccttcacagccacccca
gaggacttccctaaaaagcacaaggcgcctgtcatcgacattggcattgctaacacaggg
aagtttatcatgactgcctccagtgacaccactgtcctcatctggagcctgaagggtcaa
gtgctgtctaccatcaacaccaaccagatgaacaacacacacgctgctgtatctccctgt
ggcagatttgtagcctcgtgtggcttcaccccagatgtgaaggtttgggaagtctgcttt
ggaaagaagggggagttccaggaggtggtgcgagccttcgaactaaagggccactccgcg
gctgtgcactcgtttgctttctccaacgactcacggaggatggcttctgtctccaaggat
ggtacatggaaactgtgggacacagatgtggaatacaagaagaagcaggacccctacttg
ctgaagacaggccgctttgaagaggcggcgggtgccgcgccgtgccgcctggccctctcc
cccaacgcccaggtcttggccttggccagtggcagtagtattcatctctacaatacccgg
cggggcgagaaggaggagtgctttgagcgggtccatggcgagtgtatcgccaacttgtcc
tttgacatcactggccgctttctggcctcctgtggggaccgggcggtgcggctgtttcac
aacactcctggccaccgagccatggtggaggagatgcagggccacctgaagcgggcctcc
aacgagagcacccgccagaggctgcagcagcagctgacccaggcccaagagaccctgaag
agcctgggtgccctgaagaagtga

All links

Disease (2)   
   KEGG DISEASE (1)   
   OMIM (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (14)   
   RefGene (1)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   UniGene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (5)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (5)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (47)   
   RefSeq(nuc) (5)   
   GenBank (21)   
   EMBL (21)   
Protein domain (5)   
   Pfam (5)   
All databases (74)   

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