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Protein

Transducin beta-like protein 2

Gene

TBL2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  • phosphoprotein binding Source: ParkinsonsUK-UCL
  • poly(A) RNA binding Source: UniProtKB
  • protein kinase binding Source: ParkinsonsUK-UCL
  • translation initiation factor binding Source: ParkinsonsUK-UCL

GO - Biological processi

  • cellular response to glucose starvation Source: ParkinsonsUK-UCL
  • cellular response to hypoxia Source: ParkinsonsUK-UCL
  • endoplasmic reticulum unfolded protein response Source: ParkinsonsUK-UCL
Complete GO annotation...

Enzyme and pathway databases

SignaLinkiQ9Y4P3.

Names & Taxonomyi

Protein namesi
Recommended name:
Transducin beta-like protein 2
Alternative name(s):
WS beta-transducin repeats protein
Short name:
WS-betaTRP
Williams-Beuren syndrome chromosomal region 13 protein
Gene namesi
Name:TBL2
Synonyms:WBSCR13
ORF Names:UNQ563/PRO1125
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:11586. TBL2.

Subcellular locationi

GO - Cellular componenti

  • endoplasmic reticulum Source: ParkinsonsUK-UCL
  • integral component of endoplasmic reticulum membrane Source: ParkinsonsUK-UCL
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

TBL2 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of TBL2 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.

Keywords - Diseasei

Williams-Beuren syndrome

Organism-specific databases

MalaCardsiTBL2.
Orphaneti904. Williams syndrome.
PharmGKBiPA36350.

Polymorphism and mutation databases

BioMutaiTBL2.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 447447Transducin beta-like protein 2PRO_0000051270Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei433 – 4331Phosphothreonine; by ATM or ATRCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9Y4P3.
MaxQBiQ9Y4P3.
PaxDbiQ9Y4P3.
PeptideAtlasiQ9Y4P3.
PRIDEiQ9Y4P3.

PTM databases

iPTMnetiQ9Y4P3.
PhosphoSiteiQ9Y4P3.
SwissPalmiQ9Y4P3.

Expressioni

Gene expression databases

BgeeiENSG00000106638.
CleanExiHS_TBL2.
ExpressionAtlasiQ9Y4P3. baseline and differential.
GenevisibleiQ9Y4P3. HS.

Organism-specific databases

HPAiHPA007477.
HPA051533.

Interactioni

GO - Molecular functioni

  • phosphoprotein binding Source: ParkinsonsUK-UCL
  • protein kinase binding Source: ParkinsonsUK-UCL
  • translation initiation factor binding Source: ParkinsonsUK-UCL

Protein-protein interaction databases

BioGridi117762. 36 interactions.
IntActiQ9Y4P3. 14 interactions.
MINTiMINT-3086622.
STRINGi9606.ENSP00000307260.

Structurei

3D structure databases

ProteinModelPortaliQ9Y4P3.
SMRiQ9Y4P3. Positions 82-415.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati88 – 12740WD 1Add
BLAST
Repeati134 – 17441WD 2Add
BLAST
Repeati186 – 22641WD 3Add
BLAST
Repeati228 – 26740WD 4Add
BLAST
Repeati277 – 31640WD 5Add
BLAST
Repeati329 – 36739WD 6Add
BLAST
Repeati371 – 40939WD 7Add
BLAST

Sequence similaritiesi

Contains 7 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG2096. Eukaryota.
COG2319. LUCA.
GeneTreeiENSGT00390000013836.
HOGENOMiHOG000007065.
HOVERGENiHBG009735.
InParanoidiQ9Y4P3.
OMAiVRLFHNT.
OrthoDBiEOG091G063D.
PhylomeDBiQ9Y4P3.
TreeFamiTF315054.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiIPR020472. G-protein_beta_WD-40_rep.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 2 hits.
[Graphical view]
PRINTSiPR00320. GPROTEINBRPT.
SMARTiSM00320. WD40. 5 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
PROSITEiPS00678. WD_REPEATS_1. 1 hit.
PS50082. WD_REPEATS_2. 3 hits.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9Y4P3-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MELSQMSELM GLSVLLGLLA LMATAAVARG WLRAGEERSG RPACQKANGF
60 70 80 90 100
PPDKSSGSKK QKQYQRIRKE KPQQHNFTHR LLAAALKSHS GNISCMDFSS
110 120 130 140 150
NGKYLATCAD DRTIRIWSTK DFLQREHRSM RANVELDHAT LVRFSPDCRA
160 170 180 190 200
FIVWLANGDT LRVFKMTKRE DGGYTFTATP EDFPKKHKAP VIDIGIANTG
210 220 230 240 250
KFIMTASSDT TVLIWSLKGQ VLSTINTNQM NNTHAAVSPC GRFVASCGFT
260 270 280 290 300
PDVKVWEVCF GKKGEFQEVV RAFELKGHSA AVHSFAFSND SRRMASVSKD
310 320 330 340 350
GTWKLWDTDV EYKKKQDPYL LKTGRFEEAA GAAPCRLALS PNAQVLALAS
360 370 380 390 400
GSSIHLYNTR RGEKEECFER VHGECIANLS FDITGRFLAS CGDRAVRLFH
410 420 430 440
NTPGHRAMVE EMQGHLKRAS NESTRQRLQQ QLTQAQETLK SLGALKK
Length:447
Mass (Da):49,798
Last modified:November 1, 1999 - v1
Checksum:iB260087E1A71D3F9
GO

Sequence cautioni

The sequence AAD28083 differs from that shown. Reason: Erroneous initiation. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti345 – 3451V → I.
Corresponds to variant rs35607697 [ dbSNP | Ensembl ].
VAR_053420

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF097484 mRNA. Translation: AAF06823.1.
AF097485 Genomic DNA. Translation: AAF06824.1.
AL080162 mRNA. Translation: CAB45751.1.
AY358518 mRNA. Translation: AAQ88882.1.
AF056183 mRNA. Translation: AAD28083.1. Different initiation.
CCDSiCCDS5551.1.
PIRiT12544.
RefSeqiNP_036585.1. NM_012453.2.
UniGeneiHs.647044.

Genome annotation databases

EnsembliENST00000305632; ENSP00000307260; ENSG00000106638.
GeneIDi26608.
KEGGihsa:26608.
UCSCiuc003tyh.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF097484 mRNA. Translation: AAF06823.1.
AF097485 Genomic DNA. Translation: AAF06824.1.
AL080162 mRNA. Translation: CAB45751.1.
AY358518 mRNA. Translation: AAQ88882.1.
AF056183 mRNA. Translation: AAD28083.1. Different initiation.
CCDSiCCDS5551.1.
PIRiT12544.
RefSeqiNP_036585.1. NM_012453.2.
UniGeneiHs.647044.

3D structure databases

ProteinModelPortaliQ9Y4P3.
SMRiQ9Y4P3. Positions 82-415.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117762. 36 interactions.
IntActiQ9Y4P3. 14 interactions.
MINTiMINT-3086622.
STRINGi9606.ENSP00000307260.

PTM databases

iPTMnetiQ9Y4P3.
PhosphoSiteiQ9Y4P3.
SwissPalmiQ9Y4P3.

Polymorphism and mutation databases

BioMutaiTBL2.

Proteomic databases

EPDiQ9Y4P3.
MaxQBiQ9Y4P3.
PaxDbiQ9Y4P3.
PeptideAtlasiQ9Y4P3.
PRIDEiQ9Y4P3.

Protocols and materials databases

DNASUi26608.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000305632; ENSP00000307260; ENSG00000106638.
GeneIDi26608.
KEGGihsa:26608.
UCSCiuc003tyh.5. human.

Organism-specific databases

CTDi26608.
GeneCardsiTBL2.
HGNCiHGNC:11586. TBL2.
HPAiHPA007477.
HPA051533.
MalaCardsiTBL2.
MIMi605842. gene.
neXtProtiNX_Q9Y4P3.
Orphaneti904. Williams syndrome.
PharmGKBiPA36350.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2096. Eukaryota.
COG2319. LUCA.
GeneTreeiENSGT00390000013836.
HOGENOMiHOG000007065.
HOVERGENiHBG009735.
InParanoidiQ9Y4P3.
OMAiVRLFHNT.
OrthoDBiEOG091G063D.
PhylomeDBiQ9Y4P3.
TreeFamiTF315054.

Enzyme and pathway databases

SignaLinkiQ9Y4P3.

Miscellaneous databases

GenomeRNAii26608.
PROiQ9Y4P3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000106638.
CleanExiHS_TBL2.
ExpressionAtlasiQ9Y4P3. baseline and differential.
GenevisibleiQ9Y4P3. HS.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiIPR020472. G-protein_beta_WD-40_rep.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 2 hits.
[Graphical view]
PRINTSiPR00320. GPROTEINBRPT.
SMARTiSM00320. WD40. 5 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
PROSITEiPS00678. WD_REPEATS_1. 1 hit.
PS50082. WD_REPEATS_2. 3 hits.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTBL2_HUMAN
AccessioniPrimary (citable) accession number: Q9Y4P3
Secondary accession number(s): Q9UQE2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: November 1, 1999
Last modified: September 7, 2016
This is version 135 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.