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Protein

Transducin beta-like protein 2

Gene

TBL2

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

Functioni

GO - Molecular functioni

  • phosphoprotein binding Source: ParkinsonsUK-UCL
  • protein kinase binding Source: ParkinsonsUK-UCL
  • RNA binding Source: UniProtKB
  • 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

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

EuPathDBiHostDB:ENSG00000106638.15
HGNCiHGNC:11586 TBL2
MIMi605842 gene
neXtProtiNX_Q9Y4P3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

DisGeNETi26608
MalaCardsiTBL2
OpenTargetsiENSG00000106638
Orphaneti904 Williams syndrome
PharmGKBiPA36350

Polymorphism and mutation databases

BioMutaiTBL2

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000512701 – 447Transducin beta-like protein 2Add BLAST447

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki168Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei433Phosphothreonine; by ATM or ATRCombined sources1

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9Y4P3
MaxQBiQ9Y4P3
PaxDbiQ9Y4P3
PeptideAtlasiQ9Y4P3
PRIDEiQ9Y4P3
ProteomicsDBi86235

PTM databases

iPTMnetiQ9Y4P3
PhosphoSitePlusiQ9Y4P3
SwissPalmiQ9Y4P3

Expressioni

Gene expression databases

BgeeiENSG00000106638 Expressed in 228 organ(s), highest expression level in testis
CleanExiHS_TBL2
ExpressionAtlasiQ9Y4P3 baseline and differential
GenevisibleiQ9Y4P3 HS

Organism-specific databases

HPAiHPA007477
HPA051533

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi117762, 45 interactors
IntActiQ9Y4P3, 16 interactors
MINTiQ9Y4P3
STRINGi9606.ENSP00000307260

Structurei

3D structure databases

ProteinModelPortaliQ9Y4P3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati88 – 127WD 1Add BLAST40
Repeati134 – 174WD 2Add BLAST41
Repeati186 – 226WD 3Add BLAST41
Repeati228 – 267WD 4Add BLAST40
Repeati277 – 316WD 5Add BLAST40
Repeati329 – 367WD 6Add BLAST39
Repeati371 – 409WD 7Add BLAST39

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG2096 Eukaryota
COG2319 LUCA
GeneTreeiENSGT00390000013836
HOGENOMiHOG000007065
HOVERGENiHBG009735
InParanoidiQ9Y4P3
OMAiTMPCRLA
OrthoDBiEOG091G063D
PhylomeDBiQ9Y4P3
TreeFamiTF315054

Family and domain databases

Gene3Di2.130.10.10, 2 hits
InterProiView protein in InterPro
IPR020472 G-protein_beta_WD-40_rep
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF00400 WD40, 2 hits
PRINTSiPR00320 GPROTEINBRPT
SMARTiView protein in SMART
SM00320 WD40, 5 hits
SUPFAMiSSF50978 SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS00678 WD_REPEATS_1, 1 hit
PS50082 WD_REPEATS_2, 3 hits
PS50294 WD_REPEATS_REGION, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 11 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8WDI9F8WDI9_HUMAN
Transducin beta-like protein 2
TBL2
176Annotation score:
Q96E41Q96E41_HUMAN
TBL2 protein
TBL2
446Annotation score:
E9PF19E9PF19_HUMAN
Transducin beta-like protein 2
TBL2
411Annotation score:
F8WCR3F8WCR3_HUMAN
Transducin beta-like protein 2
TBL2
107Annotation score:
F8WB62F8WB62_HUMAN
Transducin beta-like protein 2
TBL2
75Annotation score:
A0A087WXC6A0A087WXC6_HUMAN
Transducin beta-like protein 2
TBL2
96Annotation score:
F8WEC3F8WEC3_HUMAN
Transducin beta-like protein 2
TBL2
54Annotation score:
F8WBP2F8WBP2_HUMAN
Transducin beta-like protein 2
TBL2
46Annotation score:
F8WBD9F8WBD9_HUMAN
Transducin beta-like protein 2
TBL2
64Annotation score:
F2Z3G3F2Z3G3_HUMAN
Transducin beta-like protein 2
TBL2
43Annotation score:
There is more potential isoformShow all

Sequence cautioni

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_053420345V → I. Corresponds to variant dbSNP:rs35607697Ensembl.1

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

Similar proteinsi

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
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117762, 45 interactors
IntActiQ9Y4P3, 16 interactors
MINTiQ9Y4P3
STRINGi9606.ENSP00000307260

PTM databases

iPTMnetiQ9Y4P3
PhosphoSitePlusiQ9Y4P3
SwissPalmiQ9Y4P3

Polymorphism and mutation databases

BioMutaiTBL2

Proteomic databases

EPDiQ9Y4P3
MaxQBiQ9Y4P3
PaxDbiQ9Y4P3
PeptideAtlasiQ9Y4P3
PRIDEiQ9Y4P3
ProteomicsDBi86235

Protocols and materials databases

DNASUi26608
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi26608
DisGeNETi26608
EuPathDBiHostDB:ENSG00000106638.15
GeneCardsiTBL2
HGNCiHGNC:11586 TBL2
HPAiHPA007477
HPA051533
MalaCardsiTBL2
MIMi605842 gene
neXtProtiNX_Q9Y4P3
OpenTargetsiENSG00000106638
Orphaneti904 Williams syndrome
PharmGKBiPA36350
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2096 Eukaryota
COG2319 LUCA
GeneTreeiENSGT00390000013836
HOGENOMiHOG000007065
HOVERGENiHBG009735
InParanoidiQ9Y4P3
OMAiTMPCRLA
OrthoDBiEOG091G063D
PhylomeDBiQ9Y4P3
TreeFamiTF315054

Enzyme and pathway databases

SignaLinkiQ9Y4P3

Miscellaneous databases

GenomeRNAii26608
PROiPR:Q9Y4P3
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000106638 Expressed in 228 organ(s), highest expression level in testis
CleanExiHS_TBL2
ExpressionAtlasiQ9Y4P3 baseline and differential
GenevisibleiQ9Y4P3 HS

Family and domain databases

Gene3Di2.130.10.10, 2 hits
InterProiView protein in InterPro
IPR020472 G-protein_beta_WD-40_rep
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF00400 WD40, 2 hits
PRINTSiPR00320 GPROTEINBRPT
SMARTiView protein in SMART
SM00320 WD40, 5 hits
SUPFAMiSSF50978 SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS00678 WD_REPEATS_1, 1 hit
PS50082 WD_REPEATS_2, 3 hits
PS50294 WD_REPEATS_REGION, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTBL2_HUMAN
AccessioniPrimary (citable) accession number: Q9Y4P3
Secondary accession number(s): Q9UQE2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: November 1, 1999
Last modified: November 7, 2018
This is version 151 of the entry and version 1 of the sequence. See 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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