Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
26608
Gene name Gene Name - the full gene name approved by the HGNC.
Transducin beta like 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TBL2
Synonyms (NCBI Gene) Gene synonyms aliases
WBSCR13, WS-betaTRP
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q11.23
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605842 11586 ENSG00000106638
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Gout Gout N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Microcephaly microcephaly N/A N/A ClinVar
Associations from Text Mining Disease 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