Gene Gene information from NCBI Gene database.
Entrez ID 387332
Gene name TATA-box binding protein like 2
Gene symbol TBPL2
Synonyms (NCBI Gene)
TBP2TRF3
Chromosome 14
Chromosome location 14q22.3
miRNA miRNA information provided by mirtarbase database.
29
miRTarBase ID miRNA Experiments Reference
MIRT532261 hsa-miR-6800-3p PAR-CLIP 22012620
MIRT532260 hsa-miR-1324 PAR-CLIP 22012620
MIRT532259 hsa-miR-6832-3p PAR-CLIP 22012620
MIRT532258 hsa-miR-4469 PAR-CLIP 22012620
MIRT532257 hsa-miR-7113-3p PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0001674 Component Female germ cell nucleus IEA
GO:0003677 Function DNA binding IEA
GO:0005634 Component Nucleus IDA 14634207
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IDA 14634207
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608964 19841 ENSG00000182521
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6SJ96
Protein name TATA box-binding protein-like 2 (TBP-like 2) (TATA box-binding protein-related factor 3) (TBP-related factor 3)
Protein function Transcription factor required in complex with TAF3 for the differentiation of myoblasts into myocytes. The complex replaces TFIID at specific promoters at an early stage in the differentiation process (By similarity). {ECO:0000250|UniProtKB:Q6SJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00352 TBP 199 281 Transcription factor TFIID (or TATA-binding protein, TBP) Domain
PF00352 TBP 289 372 Transcription factor TFIID (or TATA-binding protein, TBP) Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed in all tissues examined with highest levels in heart, lung, ovary, spleen and testes. {ECO:0000269|PubMed:14634207, ECO:0000269|PubMed:17570761}.
Sequence
MASAPWPERVPRLLAPRLPSYPPPPPTVGLRSMEQEETYLELYLDQCAAQDGLAPPRSPL
FSPVVPYDMYILNASNPDTAFNSNPEVKETSGDFSSVDLSFLPDEVTQENKDQPVISKHE
TEENSESQSPQSRLPSPSEQDVGLGLNSSSLSNSHSQLHPGDTDSVQPSPEKPNSDSLSL
ASITPMTPMTPISECCGIVPQLQNIVSTVNLACKLDLKKIALHAKNAEYNPKRFAAVIMR
IREPRTTALIFSSGKMVCTGAKSEEQSRLAARKYARVVQKL
GFPARFLDFKIQNMVGSCD
VRFPIRLEGLVLTHQQFSSYEPELFPGLIYRMVKPRIVLLIFVSGKVVLTGAKERSEIYE
AFENIYPILKGF
KKA
Sequence length 375
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Basal transcription factors
Huntington disease
Spinocerebellar ataxia
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Viral carcinogenesis
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 14983878
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 17115886
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 17115886
★☆☆☆☆
Found in Text Mining only
Cataract Cataract BEFREE 29854083
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Colonic neoplasm Pubtator 12189205 Inhibit
★☆☆☆☆
Found in Text Mining only
Diabetes Diabetes BEFREE 17115886, 29854083
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes Mellitus BEFREE 17115886, 29854083
★☆☆☆☆
Found in Text Mining only
Endometriosis Endometriosis BEFREE 20172870
★☆☆☆☆
Found in Text Mining only
Endometriosis Endometriosis Pubtator 20172870, 33572677 Associate
★☆☆☆☆
Found in Text Mining only
Fibroid Tumor Leiomyoma BEFREE 24130091
★☆☆☆☆
Found in Text Mining only