Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 387332
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol TBPL2   Gene   UCSC   Ensembl
Aliases TBP2, TRF3
Gene name TATA-box binding protein like 2
Alternate names TATA box-binding protein-like protein 2, TATA box-binding protein-related factor 3, TBP-like protein 2, TBP-related factor 3,
Gene location 14q22.3 (55440544: 55414209)     Exons: 7     NC_000014.9
OMIM 608964

Protein Summary

Protein general information Q6SJ96  

Name: TATA box binding protein like protein 2 (TBP like protein 2) (TATA box binding protein related factor 3) (TBP related factor 3)

Length: 375  Mass: 41,524

Tissue specificity: Ubiquitously expressed in all tissues examined with highest levels in heart, lung, ovary, spleen and testes. {ECO

Sequence MASAPWPERVPRLLAPRLPSYPPPPPTVGLRSMEQEETYLELYLDQCAAQDGLAPPRSPLFSPVVPYDMYILNAS
NPDTAFNSNPEVKETSGDFSSVDLSFLPDEVTQENKDQPVISKHETEENSESQSPQSRLPSPSEQDVGLGLNSSS
LSNSHSQLHPGDTDSVQPSPEKPNSDSLSLASITPMTPMTPISECCGIVPQLQNIVSTVNLACKLDLKKIALHAK
NAEYNPKRFAAVIMRIREPRTTALIFSSGKMVCTGAKSEEQSRLAARKYARVVQKLGFPARFLDFKIQNMVGSCD
VRFPIRLEGLVLTHQQFSSYEPELFPGLIYRMVKPRIVLLIFVSGKVVLTGAKERSEIYEAFENIYPILKGFKKA
Structural information
Interpro:  IPR000814 IPR030491 IPR033710
Prosite:   PS00351

Pfam:  
PF00352
CDD:   cd04516
STRING:   ENSP00000247219;
Other Databases GeneCards:  TBPL2;  Malacards:  TBPL2

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0003677 DNA binding
IEA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
IEA molecular_function
GO:0005634 nucleus
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0006352 DNA-templated transcripti
on, initiation
IEA biological_process
GO:0007275 multicellular organism de
velopment
IEA biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
IEA biological_process
GO:0003677 DNA binding
IEA molecular_function
GO:0003677 DNA binding
IEA molecular_function
GO:0003677 DNA binding
IEA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
IEA molecular_function
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0006351 transcription, DNA-templa
ted
IEA biological_process
GO:0006352 DNA-templated transcripti
on, initiation
IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
IEA biological_process
GO:0007275 multicellular organism de
velopment
IEA biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
IEA biological_process
GO:0005634 nucleus
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component

KEGG pathways

hsa05166  HTLV-I infection
hsa05168  Herpes simplex infection
hsa05169  Epstein-Barr virus infection
hsa05203  Viral carcinogenesis
hsa05016  Huntington's disease
hsa03022  Basal transcription factors

Diseases

Associated diseases References
Endometriosis PMID: 20172870
Endometriosis INFBASE20172870

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
20172870 Endometrio
sis

66 (35 patients
with histologi
cally confirmed
endometriosis,
31 patients wi
thout endometri
osis)
TRX
TBP-2
Show abstract
25376627 Endometrio
sis

65 (31 patients
with endometri
osis, 34 patien
ts without endo
metriosis)
Female infertility GPX3
IL6
IL8
TNF
TXN
TBPL2
Show abstract