Gene Gene information from NCBI Gene database.
Entrez ID 26608
Gene name Transducin beta like 2
Gene symbol TBL2
Synonyms (NCBI Gene)
WBSCR13WS-betaTRP
Chromosome 7
Chromosome location 7q11.23
Summary This gene encodes a member of the beta-transducin protein family. Most proteins of the beta-transducin family are involved in regulatory functions. This protein is possibly involved in some intracellular signaling pathway. This gene is deleted in Williams
miRNA miRNA information provided by mirtarbase database.
311
miRTarBase ID miRNA Experiments Reference
MIRT714483 hsa-miR-4695-5p HITS-CLIP 19536157
MIRT714481 hsa-miR-1470 HITS-CLIP 19536157
MIRT714482 hsa-miR-4667-3p HITS-CLIP 19536157
MIRT714479 hsa-miR-5193 HITS-CLIP 19536157
MIRT714480 hsa-miR-660-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674
GO:0005515 Function Protein binding IPI 20562859, 33961781
GO:0005783 Component Endoplasmic reticulum IBA
GO:0005783 Component Endoplasmic reticulum IDA 25393282
GO:0005789 Component Endoplasmic reticulum membrane NAS 25393282
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605842 11586 ENSG00000106638
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y4P3
Protein name Transducin beta-like protein 2 (WS beta-transducin repeats protein) (WS-betaTRP) (Williams-Beuren syndrome chromosomal region 13 protein)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 79 118 WD domain, G-beta repeat Repeat
PF00400 WD40 269 307 WD domain, G-beta repeat Repeat
Sequence
MELSQMSELMGLSVLLGLLALMATAAVARGWLRAGEERSGRPACQKANGFPPDKSSGSKK
QKQYQRIRKEKPQQHNFTHRLLAAALKSHSGNISCMDFSSNGKYLATCADDRTIRIWSTK
DFLQREHRSMRANVELDHATLVRFSPDCRAFIVWLANGDTLRVFKMTKREDGGYTFTATP
EDFPKKHKAPVIDIGIANTGKFIMTASSDTTVLIWSLKGQVLSTINTNQMNNTHAAVSPC
GRFVASCGFTPDVKVWEVCFGKKGEFQEVVRAFELKGHSAAVHSFAFSNDSRRMASVSKD
GTWKLWD
TDVEYKKKQDPYLLKTGRFEEAAGAAPCRLALSPNAQVLALASGSSIHLYNTR
RGEKEECFERVHGECIANLSFDITGRFLASCGDRAVRLFHNTPGHRAMVEEMQGHLKRAS
NESTRQRLQQQLTQAQETLKSLGALKK
Sequence length 447
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Microcephaly Uncertain significance rs781866230 RCV001252930
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Hyperlipoproteinemia Type II Associate 32811528
Hyperlipoproteinemia Type V Associate 19656773
Infections Associate 36768954
Williams Syndrome Associate 33789571