TBPL2 (TATA-box binding protein like 2)

2014-11-01  

Identity

HGNC
LOCATION
14q22.3
LOCUSID
ALIAS
TBP2,TRF3

Other Information

Locus ID:

NCBI: 387332
MIM: 608964
HGNC: 19841
Ensembl: ENSG00000182521

Variants:

dbSNP: 387332
ClinVar: 387332
TCGA: ENSG00000182521
COSMIC: TBPL2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000182521ENST00000247219Q6SJ96
ENSG00000182521ENST00000556755G3V454

Expression (GTEx)

0
1

Pathways

PathwaySourceExternal ID
Basal transcription factorsKEGGko03022
Huntington's diseaseKEGGko05016
Basal transcription factorsKEGGhsa03022
Huntington's diseaseKEGGhsa05016
HTLV-I infectionKEGGko05166
HTLV-I infectionKEGGhsa05166
Herpes simplex infectionKEGGko05168
Herpes simplex infectionKEGGhsa05168
Epstein-Barr virus infectionKEGGhsa05169
Epstein-Barr virus infectionKEGGko05169
Viral carcinogenesisKEGGhsa05203
Viral carcinogenesisKEGGko05203

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
339662692021A homozygous missense mutation in TBPL2 is associated with oocyte maturation arrest and degeneration.2
339662692021A homozygous missense mutation in TBPL2 is associated with oocyte maturation arrest and degeneration.2
324483622020TATA box-binding protein-related factor 3 drives the mesendoderm specification of human embryonic stem cells by globally interacting with the TATA box of key mesendodermal genes.2
335418212020A recurrent mutation in TBPL2 causes diminished ovarian reserve and female infertility.4
324483622020TATA box-binding protein-related factor 3 drives the mesendoderm specification of human embryonic stem cells by globally interacting with the TATA box of key mesendodermal genes.2
335418212020A recurrent mutation in TBPL2 causes diminished ovarian reserve and female infertility.4
276426742016TBP2 gene may not be associated with primary ovarian insufficiency.0
276426742016TBP2 gene may not be associated with primary ovarian insufficiency.0
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
177043032007Switching of the core transcription machinery during myogenesis.92
177043032007Switching of the core transcription machinery during myogenesis.92
146342072003TRF3, a TATA-box-binding protein-related factor, is vertebrate-specific and widely expressed.31
146342072003TRF3, a TATA-box-binding protein-related factor, is vertebrate-specific and widely expressed.31

Citation

Dessen P

TBPL2 (TATA-box binding protein like 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74549/tbpl2-(tata-box-binding-protein-like-2)