GTF2E2
entrez
2961
canonical
uniprot
P29084
canonical
ensembl
ENSG00000197265
resolver
ensp
ENSP00000348168
resolver
ensp
ENSP00000429921
resolver
ensp
ENSP00000538945
resolver
ensp
ENSP00000538947
resolver
ensp
ENSP00000538948
resolver
ensp
ENSP00000538952
resolver
ensp
ENSP00000538954
resolver
ensp
ENSP00000588034
resolver
ensp
ENSP00000613656
resolver
ensp
ENSP00000613657
resolver
ensp
ENSP00000692411
resolver
enst
ENST00000355904
resolver
enst
ENST00000868886
resolver
enst
ENST00000868888
resolver
enst
ENST00000868889
resolver
enst
ENST00000868893
resolver
enst
ENST00000868895
resolver
enst
ENST00000917975
resolver
enst
ENST00000943597
resolver
enst
ENST00000943598
resolver
genesymbol
GTF2E2
resolver
genesymbol_syn
TF2E2
resolver
hgnc
HGNC:4651
resolver
uniprot
D3DSV2
resolver
uniprot
Q9H2B9
resolver
uniprot_entry
T2EB_HUMAN
resolver
uniprot_sec
D3DSV2
resolver
uniprot_sec
Q9H2B9
resolver
amino_acid_sequence
MDPSLLRERELFKKRALSTPVVEKRSASSESSSSSSKKKKTKVEHGGSSGSKQNSDHSNGSFNLKALSGSSGYKFGVLAKIVNYMKTRHQRGDTHPLTLDEILDETQHLDIGLKQKQWLMTEALVNNPKIEVIDGKYAFKPKYNVRDKKALLRLLDQHDQRGLGGILLEDIEEALPNSQKAVKALGDQILFVNRPDKKKILFFNDKSCQFSVDEEFQKLWRSVTVDSMDEEKIEEYLKRQGISSMQESGPKKVAPIQRRKKPASQKKRRFKTHNEHLAGVLKDYSDITSSK
uniprot
proteins
disease_involvement
DISEASE: Trichothiodystrophy 6, non-photosensitive (TTD6) [MIM:616943]: A form of trichothiodystrophy, a disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD6 patients do not manifest cutaneous photosensitivity. Inheritance pattern has been reported to be autosomal recessive. {ECO:0000269|PubMed:26996949}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Recruits TFIIH to the initiation complex and stimulates the RNA polymerase II C-terminal domain kinase and DNA-dependent ATPase activities of TFIIH. Both TFIIH and TFIIE are required for promoter clearance by RNA polymerase. {ECO:0000269|PubMed:1956398, ECO:0000269|PubMed:1956404}.
uniprot
proteins
mass_dalton
33044
uniprot
proteins
protein_family
TFIIE beta subunit family
uniprot
proteins
pubmed
10792464
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19106100
uniprot
proteins
pubmed
1956398
uniprot
proteins
pubmed
1956404
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
26996949
uniprot
proteins
pubmed
27193682
uniprot
proteins
pubmed
7651391
uniprot
proteins
sequence_length
291
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:7651391}.
uniprot
proteins