TBL2
Transducin beta-like protein 2
Also known as: DKFZP43N024, TBL2_HUMAN, WBSCR13, WS-betaTRP
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y4P3
- Gene
- TBL2
- Ensembl
- ENSG00000106638
- Chromosome
- 7
- Canonical length
- 447 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Cytosol
OverviewNCBI 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-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
447 residues, UniProt reviewed canonical sequence.
>Q9Y4P3|TBL2
1 MELSQMSELM GLSVLLGLLA LMATAAVARG WLRAGEERSG RPACQKANGF PPDKSSGSKK
61 QKQYQRIRKE KPQQHNFTHR LLAAALKSHS GNISCMDFSS NGKYLATCAD DRTIRIWSTK
121 DFLQREHRSM RANVELDHAT LVRFSPDCRA FIVWLANGDT LRVFKMTKRE DGGYTFTATP
181 EDFPKKHKAP VIDIGIANTG KFIMTASSDT TVLIWSLKGQ VLSTINTNQM NNTHAAVSPC
241 GRFVASCGFT PDVKVWEVCF GKKGEFQEVV RAFELKGHSA AVHSFAFSND SRRMASVSKD
301 GTWKLWDTDV EYKKKQDPYL LKTGRFEEAA GAAPCRLALS PNAQVLALAS GSSIHLYNTR
361 RGEKEECFER VHGECIANLS FDITGRFLAS CGDRAVRLFH NTPGHRAMVE EMQGHLKRAS
421 NESTRQRLQQ QLTQAQETLK SLGALKKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TBL2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.3
- Highest tissue expression
- 13 nTPM
Expression across tissuesHPA
Tissue
- testis: 13 nTPM
- pancreas: 5.8 nTPM
- salivary gland: 5 nTPM
- epididymis: 3.1 nTPM
- adrenal gland: 3 nTPM
- parathyroid gland: 2.2 nTPM
Single-cell type
- late spermatids: 764 nCPM
- late primary spermatocytes: 749 nCPM
- early spermatids: 362 nCPM
- early primary spermatocytes: 130 nCPM
- extravillous trophoblasts: 74 nCPM
- cytotrophoblasts: 56 nCPM
Immune cell
- basophil: 11 nTPM
- myeloid DC: 9.2 nTPM
- classical monocyte: 7 nTPM
- NK-cell: 5.6 nTPM
- total PBMC: 5.4 nTPM
- plasmacytoid DC: 5.2 nTPM
Brain region
- cerebellum: 4.8 nTPM
- choroid plexus: 4.5 nTPM
- cerebral cortex: 3.2 nTPM
- hippocampal formation: 2.9 nTPM
- pons: 2.7 nTPM
- basal ganglia: 2.6 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.86
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.58
- DepMap mean gene effect
- -0.14
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to glucose starvation
- cellular response to hypoxia
- endoplasmic reticulum unfolded protein response
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of TBL2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TBL2 as an antibody target. Whether an autoantibody or antibody against TBL2 could matter depends on whether native TBL2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TBL2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label TBL2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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