|
UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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O14776 |
| Protein name |
Transcription elongation regulator 1 (TATA box-binding protein-associated factor 2S) (Transcription factor CA150) |
| Protein function |
Transcription factor that binds RNA polymerase II and inhibits the elongation of transcripts from target promoters. Regulates transcription elongation in a TATA box-dependent manner. Necessary for TAT-dependent activation of the human immunodefi |
| PDB |
2DK7
, 2DOD
, 2DOE
, 2DOF
, 2E71
, 2KIQ
, 2KIS
, 2MW9
, 2MWA
, 2MWB
, 2MWD
, 2MWE
, 2MWF
, 2N4R
, 2N4S
, 2N4T
, 2N4U
, 2N4V
, 2N4W
, 2NNT
, 3HFH
, 3Q1I
, 4FQG
, 7ABF
, 7ABG
, 8Q7N
, 8QO9
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| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF00397 |
WW |
134 → 162 |
WW domain |
Domain |
| PF00397 |
WW |
432 → 460 |
WW domain |
Domain |
| PF01846 |
FF |
794 → 843 |
FF domain |
Family |
| PF01846 |
FF |
1014 → 1074 |
FF domain |
Family |
| PF01846 |
FF |
727 → 776 |
FF domain |
Family |
| PF01846 |
FF |
661 → 709 |
FF domain |
Family |
| PF01846 |
FF |
956 → 1007 |
FF domain |
Family |
| PF01846 |
FF |
898 → 949 |
FF domain |
Family |
|
| Tissue specificity |
TISSUE SPECIFICITY: Detected in brain neurons. {ECO:0000269|PubMed:11172033}. |
| Sequence |
|
| Sequence length |
1098 |
| Interactions |
View interactions |
|
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)
|
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
Evidence Score |
| Colorectal cancer |
Pathogenic |
rs1762720125 |
RCV001293848 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
|
| Phenotype Name |
Clinical Significance |
Source |
Reference |
Evidence Score |
| CHRONIC VENOUS HYPERTENSION |
— |
GWAS catalog
|
39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MIGRAINE DISORDER |
— |
GWAS catalog
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23793025, 34294844, 35115687 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| RHEUMATOID ARTHRITIS |
— |
GWAS catalog
|
35793592 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SCOLIOSIS |
— |
GWAS catalog
|
30019117 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
|
| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Huntington Disease |
Huntington Disease |
BEFREE |
12821179, 17018562, 27844289 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Huntington Disease |
Huntington Disease |
LHGDN |
17018562 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Huntington Disease |
Huntington disease |
Pubtator |
17018562 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Sclerosis |
Multiple sclerosis |
Pubtator |
31805175 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Narcolepsy |
Narcolepsy |
GWASDB_DG |
19629137 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| nervous system disorder |
Nervous System Disorder |
BEFREE |
27844289 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
BEFREE |
27844289 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Disorders |
Neurodegenerative Disorders |
BEFREE |
27844289 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
|