GTF2E2 (general transcription factor IIE subunit 2) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: GTF2E2 (general transcription factor IIE subunit 2) Homo sapiens
Analyze
Symbol: GTF2E2
Name: general transcription factor IIE subunit 2
RGD ID: 1320859
HGNC Page HGNC:4651
Description: Enables RNA polymerase II general transcription initiation factor activity. Involved in transcription by RNA polymerase II. Located in cytosol and nuclear speck. Part of transcription factor TFIID complex. Implicated in nonphotosensitive trichothiodystrophy 6.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FE; general transcription factor IIE, polypeptide 2, beta 34kDa; TF2E2; TFIIE beta subunit; TFIIE-B; TFIIE-beta; transcription initiation factor IIE subunit beta; TTD6
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100422440  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38830,578,318 - 30,658,236 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl830,578,318 - 30,658,236 (-)EnsemblGRCh38hg38GRCh38
GRCh37830,435,835 - 30,515,753 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36830,555,573 - 30,635,280 (-)NCBINCBI36hg18NCBI36
Build 34830,555,574 - 30,635,274NCBI
Celera829,394,512 - 29,474,259 (-)NCBI
Cytogenetic Map8p12NCBI
HuRef828,980,483 - 29,060,402 (-)NCBIHuRef
CHM1_1830,638,171 - 30,717,889 (-)NCBICHM1_1
T2T-CHM13v2.0830,857,764 - 30,937,703 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal pyramidal sign  (IAGP)
Abnormality of prenatal development or birth  (IAGP)
Absence of subcutaneous fat  (IAGP)
Alopecia of scalp  (IAGP)
Anemia  (IAGP)
Aplasia/Hypoplasia of the nails  (IAGP)
Astigmatism  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral microphthalmos  (IAGP)
Bilateral sensorineural hearing impairment  (IAGP)
Bird-like facies  (IAGP)
Brittle hair  (IAGP)
Broad-based gait  (IAGP)
Bronchospasm  (IAGP)
Cardiomyopathy  (IAGP)
Carious teeth  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral dysmyelination  (IAGP)
Clubbing  (IAGP)
Coarse facial features  (IAGP)
Concave nail  (IAGP)
Congenital exfoliative erythroderma  (IAGP)
Coronal craniosynostosis  (IAGP)
Coxa valga  (IAGP)
Craniosynostosis  (IAGP)
Cryptorchidism  (IAGP)
Cutaneous photosensitivity  (IAGP)
Defective DNA repair after ultraviolet radiation damage  (IAGP)
Delayed skeletal maturation  (IAGP)
Developmental cataract  (IAGP)
Diffuse cerebellar atrophy  (IAGP)
Dry skin  (IAGP)
Dysarthria  (IAGP)
Dysphonia  (IAGP)
Dystrophic fingernails  (IAGP)
Ectropion  (IAGP)
Eczema  (IAGP)
Enamel hypoplasia  (IAGP)
Epicanthus  (IAGP)
Esotropia  (IAGP)
Fragile nails  (IAGP)
Gait ataxia  (IAGP)
Generalized hyperreflexia  (IAGP)
Generalized hypotonia  (IAGP)
Generalized-onset seizure  (IAGP)
Global developmental delay  (IAGP)
Gonadal dysgenesis  (IAGP)
High, narrow palate  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of mandible relative to maxilla  (IAGP)
Hyporeflexia  (IAGP)
Hypotelorism  (IAGP)
Ichthyosis  (IAGP)
Impaired social reciprocity  (IAGP)
Increased bone mineral density  (IAGP)
Increased mean corpuscular hemoglobin concentration  (IAGP)
Intellectual disability, moderate  (IAGP)
Intention tremor  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint dislocation  (IAGP)
Keratoconjunctivitis sicca  (IAGP)
Long-tract signs  (IAGP)
Low-set nipples  (IAGP)
Macular degeneration  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Mild intrauterine growth retardation  (IAGP)
Motor delay  (IAGP)
Multiple joint contractures  (IAGP)
Myopia  (IAGP)
Neutropenia  (IAGP)
Numerous pigmented freckles  (IAGP)
Nystagmus  (IAGP)
Osteopenia  (IAGP)
Panhypogammaglobulinemia  (IAGP)
Paraplegia/paraparesis  (IAGP)
Partial agenesis of the corpus callosum  (IAGP)
Peripheral neuropathy  (IAGP)
Periventricular leukomalacia  (IAGP)
Pes cavus  (IAGP)
Photophobia  (IAGP)
Prematurely aged appearance  (IAGP)
Protruding ear  (IAGP)
Psychomotor retardation  (IAGP)
Recurrent bronchopulmonary infections  (IAGP)
Retrognathia  (IAGP)
Ridged nail  (IAGP)
Short stature  (IAGP)
Slow-growing hair  (IAGP)
Small for gestational age  (IAGP)
Sparse scalp hair  (IAGP)
Spasticity  (IAGP)
Split nail  (IAGP)
Squamous cell carcinoma  (IAGP)
Thoracic kyphosis  (IAGP)
Tiger tail banding  (IAGP)
Umbilical hernia  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Structural insights into transcription initiation by RNA polymerase II. Grunberg S and Hahn S, Trends Biochem Sci. 2013 Dec;38(12):603-11. doi: 10.1016/j.tibs.2013.09.002. Epub 2013 Oct 11.
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1939271   PMID:1956398   PMID:1956404   PMID:2026628   PMID:2251258   PMID:2449431   PMID:3029109   PMID:7651391   PMID:7876263   PMID:7926747   PMID:8152490   PMID:8628277  
PMID:8786118   PMID:8849451   PMID:8934526   PMID:8946909   PMID:8999876   PMID:9054383   PMID:9089417   PMID:9121429   PMID:9271120   PMID:9405375   PMID:9618479   PMID:9677423  
PMID:10777215   PMID:10792464   PMID:10827951   PMID:11113176   PMID:11416139   PMID:11509574   PMID:12477932   PMID:12665589   PMID:15489334   PMID:16547462   PMID:17643375   PMID:18029348  
PMID:19106100   PMID:19210545   PMID:19861958   PMID:20125193   PMID:21244100   PMID:21489275   PMID:21832049   PMID:21873635   PMID:21988832   PMID:22404213   PMID:22658674   PMID:22678362  
PMID:22863883   PMID:22939629   PMID:23064645   PMID:23934736   PMID:25308091   PMID:25492609   PMID:26344197   PMID:26996949   PMID:27193682   PMID:27602723   PMID:27639436   PMID:28514442  
PMID:28515276   PMID:28700943   PMID:28973399   PMID:28986522   PMID:29117863   PMID:29121065   PMID:29568061   PMID:30021884   PMID:30585729   PMID:30890647   PMID:30940648   PMID:31527615  
PMID:31527668   PMID:32296183   PMID:32416067   PMID:32645484   PMID:32694731   PMID:33658012   PMID:33916271   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34373451   PMID:34581812  
PMID:34795231   PMID:34944018  


Genomics

Comparative Map Data
GTF2E2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38830,578,318 - 30,658,236 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl830,578,318 - 30,658,236 (-)EnsemblGRCh38hg38GRCh38
GRCh37830,435,835 - 30,515,753 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36830,555,573 - 30,635,280 (-)NCBINCBI36hg18NCBI36
Build 34830,555,574 - 30,635,274NCBI
Celera829,394,512 - 29,474,259 (-)NCBI
Cytogenetic Map8p12NCBI
HuRef828,980,483 - 29,060,402 (-)NCBIHuRef
CHM1_1830,638,171 - 30,717,889 (-)NCBICHM1_1
T2T-CHM13v2.0830,857,764 - 30,937,703 (-)NCBI
Gtf2e2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39834,221,942 - 34,267,201 (+)NCBIGRCm39mm39
GRCm39 Ensembl834,221,861 - 34,267,201 (+)Ensembl
GRCm38833,731,914 - 33,777,173 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl833,731,833 - 33,777,173 (+)EnsemblGRCm38mm10GRCm38
MGSCv37834,842,386 - 34,887,645 (+)NCBIGRCm37mm9NCBIm37
MGSCv36835,197,977 - 35,243,099 (+)NCBImm8
Celera836,366,841 - 36,414,460 (+)NCBICelera
Cytogenetic Map8A4NCBI
Gtf2e2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21658,399,307 - 58,449,467 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1658,399,107 - 58,449,371 (-)Ensembl
Rnor_6.01662,113,846 - 62,164,339 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1662,113,854 - 62,164,135 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01661,778,116 - 61,827,126 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41662,168,709 - 62,218,868 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11662,168,793 - 62,215,640 (-)NCBI
Celera1656,436,672 - 56,485,957 (-)NCBICelera
Cytogenetic Map16q12.3NCBI
Gtf2e2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554637,000,868 - 7,084,207 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554637,000,868 - 7,080,778 (-)NCBIChiLan1.0ChiLan1.0
GTF2E2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1827,071,634 - 27,151,147 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl827,071,634 - 27,151,147 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0829,881,879 - 29,961,554 (-)NCBIMhudiblu_PPA_v0panPan3
GTF2E2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11633,697,872 - 33,778,247 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1633,707,420 - 33,777,851 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1634,160,349 - 34,240,505 (+)NCBI
ROS_Cfam_1.01635,726,970 - 35,807,607 (+)NCBI
ROS_Cfam_1.0 Ensembl1635,726,875 - 35,807,601 (+)Ensembl
UMICH_Zoey_3.11633,825,507 - 33,905,842 (+)NCBI
UNSW_CanFamBas_1.01634,395,537 - 34,475,827 (+)NCBI
UU_Cfam_GSD_1.01634,516,308 - 34,596,621 (+)NCBI
Gtf2e2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494356,834,974 - 56,953,968 (+)NCBI
SpeTri2.0NW_004936792409,637 - 484,010 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GTF2E2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1554,444,470 - 54,531,213 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11554,444,480 - 54,525,566 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21561,839,232 - 61,920,626 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GTF2E2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1828,690,056 - 28,772,470 (-)NCBIChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605213,333,790 - 13,418,142 (+)NCBIVero_WHO_p1.0
Gtf2e2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248397,247,596 - 7,329,480 (-)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_0046248397,248,183 - 7,328,582 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
G36444  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37830,503,184 - 30,503,285UniSTSGRCh37
Build 36830,622,726 - 30,622,827RGDNCBI36
Celera829,461,703 - 29,461,804RGD
Cytogenetic Map8p12UniSTS
HuRef829,047,709 - 29,047,810UniSTS
G32125  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37830,438,829 - 30,438,995UniSTSGRCh37
Build 36830,558,371 - 30,558,537RGDNCBI36
Celera829,397,310 - 29,397,476RGD
Cytogenetic Map8p12UniSTS
HuRef828,983,281 - 28,983,447UniSTS
RH11463  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37830,436,177 - 30,436,277UniSTSGRCh37
Build 36830,555,719 - 30,555,819RGDNCBI36
Celera829,394,658 - 29,394,758RGD
Cytogenetic Map8p12UniSTS
HuRef828,980,629 - 28,980,729UniSTS
GeneMap99-GB4 RH Map8118.6UniSTS
RH93000  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37830,441,976 - 30,442,137UniSTSGRCh37
Build 36830,561,518 - 30,561,679RGDNCBI36
Celera829,400,477 - 29,400,638RGD
Cytogenetic Map8p12UniSTS
HuRef828,986,428 - 28,986,589UniSTS
GeneMap99-GB4 RH Map8118.6UniSTS
RH103819  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37830,503,405 - 30,503,498UniSTSGRCh37
Build 36830,622,947 - 30,623,040RGDNCBI36
Celera829,461,924 - 29,462,017RGD
Cytogenetic Map8p12UniSTS
HuRef829,047,930 - 29,048,023UniSTS
GeneMap99-GB4 RH Map8118.5UniSTS
D8S1862  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37830,436,092 - 30,436,434UniSTSGRCh37
Build 36830,555,634 - 30,555,976RGDNCBI36
Celera829,394,573 - 29,394,915RGD
Cytogenetic Map8p12UniSTS
HuRef828,980,544 - 28,980,886UniSTS
Stanford-G3 RH Map81390.0UniSTS
Whitehead-YAC Contig Map8 UniSTS
NCBI RH Map8413.5UniSTS
GeneMap99-G3 RH Map81480.0UniSTS
D8S2166  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37830,441,185 - 30,441,356UniSTSGRCh37
Build 36830,560,727 - 30,560,898RGDNCBI36
Celera829,399,686 - 29,399,857RGD
HuRef828,985,637 - 28,985,808UniSTS
D8S2241  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37830,500,125 - 30,500,281UniSTSGRCh37
Build 36830,619,667 - 30,619,823RGDNCBI36
Celera829,458,644 - 29,458,800RGD
HuRef829,044,650 - 29,044,806UniSTS
D8S2214  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37830,457,616 - 30,457,697UniSTSGRCh37
Build 36830,577,158 - 30,577,239RGDNCBI36
Celera829,416,115 - 29,416,196RGD
HuRef829,002,062 - 29,002,143UniSTS
RH47774  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37830,507,771 - 30,507,903UniSTSGRCh37
Build 36830,627,313 - 30,627,445RGDNCBI36
Celera829,466,290 - 29,466,422RGD
Cytogenetic Map8p12UniSTS
HuRef829,052,429 - 29,052,561UniSTS
GeneMap99-GB4 RH Map8118.5UniSTS
NCBI RH Map8410.4UniSTS
WI-19229  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37830,436,184 - 30,436,440UniSTSGRCh37
Build 36830,555,726 - 30,555,982RGDNCBI36
Celera829,394,665 - 29,394,921RGD
Cytogenetic Map8p12UniSTS
HuRef828,980,636 - 28,980,892UniSTS
GeneMap99-GB4 RH Map8118.5UniSTS
Whitehead-RH Map8121.9UniSTS
NCBI RH Map8414.6UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:700
Count of miRNA genes:521
Interacting mature miRNAs:565
Transcripts:ENST00000355904, ENST00000518445, ENST00000518599, ENST00000522833, ENST00000523499
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2381 1830 1598 488 1466 343 3683 1126 2156 371 1447 1606 159 1200 2119 4
Low 57 1157 126 136 484 122 673 1069 1560 48 11 5 14 1 4 669 2
Below cutoff 2 1 1 13 2 1 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_052833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001348353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA483281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC102945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC103959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH010055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX421791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S67861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X63469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000355904   ⟹   ENSP00000348168
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl830,578,318 - 30,658,236 (-)Ensembl
RefSeq Acc Id: ENST00000518445   ⟹   ENSP00000429312
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl830,612,470 - 30,657,618 (-)Ensembl
RefSeq Acc Id: ENST00000518599   ⟹   ENSP00000429921
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl830,607,104 - 30,657,005 (-)Ensembl
RefSeq Acc Id: ENST00000522833
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl830,584,503 - 30,612,365 (-)Ensembl
RefSeq Acc Id: ENST00000523499   ⟹   ENSP00000428981
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl830,607,057 - 30,658,032 (-)Ensembl
RefSeq Acc Id: NM_001348353   ⟹   NP_001335282
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38830,584,425 - 30,657,618 (-)NCBI
T2T-CHM13v2.0830,863,870 - 30,937,079 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002095   ⟹   NP_002086
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38830,578,318 - 30,658,236 (-)NCBI
GRCh37830,436,031 - 30,515,738 (-)ENTREZGENE
Build 36830,555,573 - 30,635,280 (-)NCBI Archive
HuRef828,980,483 - 29,060,402 (-)ENTREZGENE
CHM1_1830,638,171 - 30,717,889 (-)NCBI
T2T-CHM13v2.0830,857,764 - 30,937,703 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011544509   ⟹   XP_011542811
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38830,584,425 - 30,658,236 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011544510   ⟹   XP_011542812
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38830,601,710 - 30,658,236 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013363   ⟹   XP_016868852
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38830,578,318 - 30,655,184 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013364   ⟹   XP_016868853
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38830,578,318 - 30,657,618 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447138   ⟹   XP_024302906
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38830,578,318 - 30,653,981 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002086   ⟸   NM_002095
- Peptide Label: isoform 1
- UniProtKB: P29084 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011542811   ⟸   XM_011544509
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011542812   ⟸   XM_011544510
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016868853   ⟸   XM_017013364
- Peptide Label: isoform X1
- UniProtKB: P29084 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016868852   ⟸   XM_017013363
- Peptide Label: isoform X1
- UniProtKB: P29084 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024302906   ⟸   XM_024447138
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001335282   ⟸   NM_001348353
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: ENSP00000429921   ⟸   ENST00000518599
RefSeq Acc Id: ENSP00000429312   ⟸   ENST00000518445
RefSeq Acc Id: ENSP00000428981   ⟸   ENST00000523499
RefSeq Acc Id: ENSP00000348168   ⟸   ENST00000355904
Protein Domains
TFIIE beta

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P29084-F1-model_v2 AlphaFold P29084 1-291 view protein structure

Promoters
RGD ID:6806791
Promoter ID:HG_KWN:61052
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_002095
Position:
Human AssemblyChrPosition (strand)Source
Build 36830,634,914 - 30,635,414 (-)MPROMDB
RGD ID:7213035
Promoter ID:EPDNEW_H12262
Type:initiation region
Name:GTF2E2_4
Description:general transcription factor IIE subunit 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12263  EPDNEW_H12264  EPDNEW_H12270  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38830,658,054 - 30,658,114EPDNEW
RGD ID:7213033
Promoter ID:EPDNEW_H12263
Type:initiation region
Name:GTF2E2_1
Description:general transcription factor IIE subunit 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12262  EPDNEW_H12264  EPDNEW_H12270  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38830,658,233 - 30,658,293EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3 copy number gain See cases [RCV000050995] Chr8:29719897..48521849 [GRCh38]
Chr8:29577413..49434409 [GRCh37]
Chr8:29633332..49596962 [NCBI36]
Chr8:8p12-q11.21
pathogenic
GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3 copy number gain See cases [RCV000050904] Chr8:25832130..48521849 [GRCh38]
Chr8:25689646..49434409 [GRCh37]
Chr8:25745563..49596962 [NCBI36]
Chr8:8p21.2-q11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 copy number gain See cases [RCV000051145] Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)x1 copy number loss See cases [RCV000054237] Chr8:24910364..31210737 [GRCh38]
Chr8:24767877..31068253 [GRCh37]
Chr8:24823781..31187795 [NCBI36]
Chr8:8p21.2-12
pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormal fetal cardiovascular morphology [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1 copy number loss See cases [RCV000136120] Chr8:24910364..31196357 [GRCh38]
Chr8:24767877..31053873 [GRCh37]
Chr8:24823781..31173415 [NCBI36]
Chr8:8p21.2-12
pathogenic
GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1 copy number loss See cases [RCV000136878] Chr8:29362097..40231708 [GRCh38]
Chr8:29219614..40089227 [GRCh37]
Chr8:29275533..40208384 [NCBI36]
Chr8:8p12-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 copy number gain See cases [RCV000138058] Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p21.2-12(chr8:25171103-31750600)x1 copy number loss See cases [RCV000138081] Chr8:25171103..31750600 [GRCh38]
Chr8:25028618..31608116 [GRCh37]
Chr8:25084535..31727658 [NCBI36]
Chr8:8p21.2-12
pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p12(chr8:30368765-36421541)x3 copy number gain See cases [RCV000139926] Chr8:30368765..36421541 [GRCh38]
Chr8:30226281..36279059 [GRCh37]
Chr8:30345823..36398222 [NCBI36]
Chr8:8p12
uncertain significance
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1 copy number loss See cases [RCV000142747] Chr8:18972996..33619264 [GRCh38]
Chr8:18830506..33476782 [GRCh37]
Chr8:18874786..33596324 [NCBI36]
Chr8:8p22-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
NM_002095.6(GTF2E2):c.448G>C (p.Ala150Pro) single nucleotide variant Trichothiodystrophy 6, nonphotosensitive [RCV000211060] Chr8:30612400 [GRCh38]
Chr8:30469917 [GRCh37]
Chr8:8p12
pathogenic
NM_002095.6(GTF2E2):c.559G>T (p.Asp187Tyr) single nucleotide variant Trichothiodystrophy 6, nonphotosensitive [RCV000211077] Chr8:30607141 [GRCh38]
Chr8:30464658 [GRCh37]
Chr8:8p12
pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22
pathogenic
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 copy number gain See cases [RCV000446588] Chr8:24772064..24813176 [GRCh37]
Chr8:8p21.2-q12.1
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p21.2-12(chr8:24514488-34808438) copy number gain See cases [RCV000448582] Chr8:24514488..34808438 [GRCh37]
Chr8:8p21.2-12
pathogenic
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 copy number loss not provided [RCV000509389] Chr8:16992973..32612724 [GRCh37]
Chr8:8p22-12
not provided
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3 copy number gain See cases [RCV000510571] Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 copy number gain not provided [RCV000683043] Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p12(chr8:30335124-33770070)x1 copy number loss not provided [RCV000683024] Chr8:30335124..33770070 [GRCh37]
Chr8:8p12
pathogenic
GRCh37/hg19 8p12(chr8:29103983-35728509)x1 copy number loss not provided [RCV000846377] Chr8:29103983..35728509 [GRCh37]
Chr8:8p12
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_002095.6(GTF2E2):c.759+159G>A single nucleotide variant not provided [RCV001707069] Chr8:30580122 [GRCh38]
Chr8:30437639 [GRCh37]
Chr8:8p12
benign
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 copy number gain not provided [RCV000762735] Chr8:12556004..34374150 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
NM_002095.6(GTF2E2):c.377A>G (p.Asn126Ser) single nucleotide variant not provided [RCV001888973] Chr8:30612471 [GRCh38]
Chr8:30469988 [GRCh37]
Chr8:8p12
uncertain significance
NM_002095.6(GTF2E2):c.525G>T (p.Leu175=) single nucleotide variant not provided [RCV000915205] Chr8:30612323 [GRCh38]
Chr8:30469840 [GRCh37]
Chr8:8p12
likely benign
NM_002095.6(GTF2E2):c.549+5T>C single nucleotide variant not provided [RCV000880453] Chr8:30612294 [GRCh38]
Chr8:30469811 [GRCh37]
Chr8:8p12
benign
NM_002095.6(GTF2E2):c.548A>G (p.Lys183Arg) single nucleotide variant not provided [RCV000888459] Chr8:30612300 [GRCh38]
Chr8:30469817 [GRCh37]
Chr8:8p12
likely benign
Single allele duplication not provided [RCV000768452] Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
NM_002095.6(GTF2E2):c.585C>T (p.Pro195=) single nucleotide variant not provided [RCV000919780] Chr8:30607115 [GRCh38]
Chr8:30464632 [GRCh37]
Chr8:8p12
likely benign
NM_002095.6(GTF2E2):c.135T>C (p.His45=) single nucleotide variant not provided [RCV000902027] Chr8:30653464 [GRCh38]
Chr8:30510981 [GRCh37]
Chr8:8p12
likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_002095.6(GTF2E2):c.760-225G>A single nucleotide variant not provided [RCV001670287] Chr8:30579262 [GRCh38]
Chr8:30436779 [GRCh37]
Chr8:8p12
benign
NM_002095.6(GTF2E2):c.367-108A>G single nucleotide variant not provided [RCV001716403] Chr8:30612589 [GRCh38]
Chr8:30470106 [GRCh37]
Chr8:8p12
benign
NM_002095.6(GTF2E2):c.367-120T>C single nucleotide variant not provided [RCV001620718] Chr8:30612601 [GRCh38]
Chr8:30470118 [GRCh37]
Chr8:8p12
benign
NM_002095.6(GTF2E2):c.366+10T>G single nucleotide variant not provided [RCV000905396] Chr8:30614598 [GRCh38]
Chr8:30472115 [GRCh37]
Chr8:8p12
benign
NM_002095.6(GTF2E2):c.370T>C (p.Leu124=) single nucleotide variant not provided [RCV000908976] Chr8:30612478 [GRCh38]
Chr8:30469995 [GRCh37]
Chr8:8p12
likely benign
NM_002095.6(GTF2E2):c.259-335del deletion not provided [RCV001687491] Chr8:30615050 [GRCh38]
Chr8:30472567 [GRCh37]
Chr8:8p12
benign
NM_002095.6(GTF2E2):c.-4-181G>A single nucleotide variant not provided [RCV001635719] Chr8:30653783 [GRCh38]
Chr8:30511300 [GRCh37]
Chr8:8p12
benign
NM_002095.6(GTF2E2):c.550-125A>T single nucleotide variant not provided [RCV001638433] Chr8:30607275 [GRCh38]
Chr8:30464792 [GRCh37]
Chr8:8p12
benign
NM_002095.6(GTF2E2):c.549+102A>G single nucleotide variant not provided [RCV001693385] Chr8:30612197 [GRCh38]
Chr8:30469714 [GRCh37]
Chr8:8p12
benign
GRCh37/hg19 8p12(chr8:30308545-30873238)x3 copy number gain not provided [RCV001259471] Chr8:30308545..30873238 [GRCh37]
Chr8:8p12
uncertain significance
NM_002095.6(GTF2E2):c.398T>C (p.Ile133Thr) single nucleotide variant not provided [RCV001316956] Chr8:30612450 [GRCh38]
Chr8:30469967 [GRCh37]
Chr8:8p12
uncertain significance
NM_002095.6(GTF2E2):c.73C>T (p.Arg25Cys) single nucleotide variant not provided [RCV001297111] Chr8:30653526 [GRCh38]
Chr8:30511043 [GRCh37]
Chr8:8p12
uncertain significance
NM_002095.6(GTF2E2):c.433G>A (p.Val145Met) single nucleotide variant not provided [RCV001326429] Chr8:30612415 [GRCh38]
Chr8:30469932 [GRCh37]
Chr8:8p12
uncertain significance
NM_002095.6(GTF2E2):c.548A>T (p.Lys183Met) single nucleotide variant not provided [RCV001346806] Chr8:30612300 [GRCh38]
Chr8:30469817 [GRCh37]
Chr8:8p12
uncertain significance
NM_002095.6(GTF2E2):c.277G>A (p.Asp93Asn) single nucleotide variant not provided [RCV001296699] Chr8:30614697 [GRCh38]
Chr8:30472214 [GRCh37]
Chr8:8p12
uncertain significance
NM_002095.6(GTF2E2):c.272G>A (p.Arg91Gln) single nucleotide variant not provided [RCV001340310] Chr8:30614702 [GRCh38]
Chr8:30472219 [GRCh37]
Chr8:8p12
uncertain significance
NM_002095.6(GTF2E2):c.93ATC[3] (p.Ser36del) microsatellite not provided [RCV001315703] Chr8:30653495..30653497 [GRCh38]
Chr8:30511012..30511014 [GRCh37]
Chr8:8p12
uncertain significance
NM_002095.6(GTF2E2):c.549+11T>G single nucleotide variant Trichothiodystrophy 6, nonphotosensitive [RCV001702910]|not provided [RCV001522367] Chr8:30612288 [GRCh38]
Chr8:30469805 [GRCh37]
Chr8:8p12
benign
NM_002095.6(GTF2E2):c.550-53del deletion not provided [RCV001682272] Chr8:30607203 [GRCh38]
Chr8:30464720 [GRCh37]
Chr8:8p12
benign
NM_002095.6(GTF2E2):c.760-298G>A single nucleotide variant not provided [RCV001674378] Chr8:30579335 [GRCh38]
Chr8:30436852 [GRCh37]
Chr8:8p12
benign
NM_002095.6(GTF2E2):c.550-66dup duplication not provided [RCV001537502] Chr8:30607202..30607203 [GRCh38]
Chr8:30464719..30464720 [GRCh37]
Chr8:8p12
benign
NM_002095.6(GTF2E2):c.568C>T (p.Leu190=) single nucleotide variant not provided [RCV001484552] Chr8:30607132 [GRCh38]
Chr8:30464649 [GRCh37]
Chr8:8p12
likely benign
NM_002095.6(GTF2E2):c.473A>G (p.His158Arg) single nucleotide variant not provided [RCV001873840] Chr8:30612375 [GRCh38]
Chr8:30469892 [GRCh37]
Chr8:8p12
uncertain significance
NM_002095.6(GTF2E2):c.127G>T (p.Val43Leu) single nucleotide variant not provided [RCV001950448] Chr8:30653472 [GRCh38]
Chr8:30510989 [GRCh37]
Chr8:8p12
uncertain significance
NM_002095.6(GTF2E2):c.111GAA[2] (p.Lys40del) microsatellite not provided [RCV001964677] Chr8:30653480..30653482 [GRCh38]
Chr8:30510997..30510999 [GRCh37]
Chr8:8p12
uncertain significance
NM_002095.6(GTF2E2):c.533C>T (p.Ser178Phe) single nucleotide variant not provided [RCV001913055] Chr8:30612315 [GRCh38]
Chr8:30469832 [GRCh37]
Chr8:8p12
uncertain significance
NM_002095.6(GTF2E2):c.832G>T (p.Ala278Ser) single nucleotide variant not provided [RCV001983298] Chr8:30578965 [GRCh38]
Chr8:30436482 [GRCh37]
Chr8:8p12
uncertain significance
NM_002095.6(GTF2E2):c.142T>C (p.Ser48Pro) single nucleotide variant not provided [RCV001944558] Chr8:30653457 [GRCh38]
Chr8:30510974 [GRCh37]
Chr8:8p12
uncertain significance
NM_002095.6(GTF2E2):c.866C>G (p.Ser289Cys) single nucleotide variant not provided [RCV002014757] Chr8:30578931 [GRCh38]
Chr8:30436448 [GRCh37]
Chr8:8p12
uncertain significance
NM_002095.6(GTF2E2):c.590A>G (p.Lys197Arg) single nucleotide variant not provided [RCV001923256] Chr8:30607110 [GRCh38]
Chr8:30464627 [GRCh37]
Chr8:8p12
uncertain significance
NM_002095.6(GTF2E2):c.766A>G (p.Ile256Val) single nucleotide variant not provided [RCV001887418] Chr8:30579031 [GRCh38]
Chr8:30436548 [GRCh37]
Chr8:8p12
uncertain significance
NM_002095.6(GTF2E2):c.103T>A (p.Ser35Thr) single nucleotide variant not provided [RCV001932039] Chr8:30653496 [GRCh38]
Chr8:30511013 [GRCh37]
Chr8:8p12
uncertain significance
NC_000008.10:g.(?_30510930)_(30511115_?)del deletion not provided [RCV001976355] Chr8:30510930..30511115 [GRCh37]
Chr8:8p12
uncertain significance
NM_002095.6(GTF2E2):c.109A>G (p.Lys37Glu) single nucleotide variant not provided [RCV002009576] Chr8:30653490 [GRCh38]
Chr8:30511007 [GRCh37]
Chr8:8p12
uncertain significance
NM_002095.6(GTF2E2):c.749C>G (p.Pro250Arg) single nucleotide variant not provided [RCV001916119] Chr8:30580291 [GRCh38]
Chr8:30437808 [GRCh37]
Chr8:8p12
uncertain significance
NM_002095.6(GTF2E2):c.58C>G (p.Pro20Ala) single nucleotide variant not provided [RCV001977784] Chr8:30653541 [GRCh38]
Chr8:30511058 [GRCh37]
Chr8:8p12
uncertain significance
NM_002095.6(GTF2E2):c.143C>T (p.Ser48Leu) single nucleotide variant not provided [RCV001989732] Chr8:30653456 [GRCh38]
Chr8:30510973 [GRCh37]
Chr8:8p12
uncertain significance
NM_002095.6(GTF2E2):c.484G>A (p.Gly162Arg) single nucleotide variant not provided [RCV001881338] Chr8:30612364 [GRCh38]
Chr8:30469881 [GRCh37]
Chr8:8p12
uncertain significance
NC_000008.10:g.(?_30469796)_(30472252_?)del deletion not provided [RCV001917944] Chr8:30469796..30472252 [GRCh37]
Chr8:8p12
uncertain significance
NM_002095.6(GTF2E2):c.688G>A (p.Glu230Lys) single nucleotide variant not provided [RCV001918438] Chr8:30580352 [GRCh38]
Chr8:30437869 [GRCh37]
Chr8:8p12
uncertain significance
NM_002095.6(GTF2E2):c.74G>A (p.Arg25His) single nucleotide variant not provided [RCV001997987] Chr8:30653525 [GRCh38]
Chr8:30511042 [GRCh37]
Chr8:8p12
uncertain significance
NM_002095.6(GTF2E2):c.403G>A (p.Gly135Arg) single nucleotide variant not provided [RCV002034058] Chr8:30612445 [GRCh38]
Chr8:30469962 [GRCh37]
Chr8:8p12
uncertain significance
NM_002095.6(GTF2E2):c.549+6C>T single nucleotide variant not provided [RCV002018028] Chr8:30612293 [GRCh38]
Chr8:30469810 [GRCh37]
Chr8:8p12
uncertain significance
NM_002095.6(GTF2E2):c.673G>A (p.Val225Ile) single nucleotide variant not provided [RCV001916131] Chr8:30580367 [GRCh38]
Chr8:30437884 [GRCh37]
Chr8:8p12
uncertain significance
NM_002095.6(GTF2E2):c.412G>A (p.Ala138Thr) single nucleotide variant not provided [RCV001870192] Chr8:30612436 [GRCh38]
Chr8:30469953 [GRCh37]
Chr8:8p12
uncertain significance
NM_002095.6(GTF2E2):c.101C>T (p.Ser34Leu) single nucleotide variant not provided [RCV001997989] Chr8:30653498 [GRCh38]
Chr8:30511015 [GRCh37]
Chr8:8p12
uncertain significance
NC_000008.10:g.(?_30436438)_(31030618_?)dup duplication not provided [RCV001975849] Chr8:30436438..31030618 [GRCh37]
Chr8:8p12
uncertain significance
NM_002095.6(GTF2E2):c.167-4G>A single nucleotide variant not provided [RCV002087938] Chr8:30635127 [GRCh38]
Chr8:30492644 [GRCh37]
Chr8:8p12
likely benign
NM_002095.6(GTF2E2):c.687C>T (p.Asp229=) single nucleotide variant not provided [RCV002109269] Chr8:30580353 [GRCh38]
Chr8:30437870 [GRCh37]
Chr8:8p12
likely benign
NM_002095.6(GTF2E2):c.657G>A (p.Leu219=) single nucleotide variant not provided [RCV002076331] Chr8:30580383 [GRCh38]
Chr8:30437900 [GRCh37]
Chr8:8p12
likely benign
NM_002095.6(GTF2E2):c.849T>C (p.Asp283=) single nucleotide variant not provided [RCV002190738] Chr8:30578948 [GRCh38]
Chr8:30436465 [GRCh37]
Chr8:8p12
likely benign
NM_002095.6(GTF2E2):c.759+8A>G single nucleotide variant not provided [RCV002078495] Chr8:30580273 [GRCh38]
Chr8:30437790 [GRCh37]
Chr8:8p12
likely benign
NM_002095.6(GTF2E2):c.550-11C>A single nucleotide variant not provided [RCV002134523] Chr8:30607161 [GRCh38]
Chr8:30464678 [GRCh37]
Chr8:8p12
likely benign
NM_002095.6(GTF2E2):c.258+8C>G single nucleotide variant not provided [RCV002151443] Chr8:30635024 [GRCh38]
Chr8:30492541 [GRCh37]
Chr8:8p12
likely benign
NM_002095.6(GTF2E2):c.198T>C (p.Ala66=) single nucleotide variant not provided [RCV002115832] Chr8:30635092 [GRCh38]
Chr8:30492609 [GRCh37]
Chr8:8p12
benign
NM_002095.6(GTF2E2):c.546C>T (p.Val182=) single nucleotide variant not provided [RCV002196024] Chr8:30612302 [GRCh38]
Chr8:30469819 [GRCh37]
Chr8:8p12
likely benign
NM_002095.6(GTF2E2):c.549+14T>C single nucleotide variant not provided [RCV002072785] Chr8:30612285 [GRCh38]
Chr8:30469802 [GRCh37]
Chr8:8p12
likely benign
NM_002095.6(GTF2E2):c.451C>T (p.Leu151=) single nucleotide variant not provided [RCV002212964] Chr8:30612397 [GRCh38]
Chr8:30469914 [GRCh37]
Chr8:8p12
likely benign
NM_002095.6(GTF2E2):c.258+13C>T single nucleotide variant not provided [RCV002128628] Chr8:30635019 [GRCh38]
Chr8:30492536 [GRCh37]
Chr8:8p12
likely benign
NM_002095.6(GTF2E2):c.549+10_549+11delinsTG indel not provided [RCV002171150] Chr8:30612288..30612289 [GRCh38]
Chr8:30469805..30469806 [GRCh37]
Chr8:8p12
likely benign
NM_002095.6(GTF2E2):c.282G>A (p.Thr94=) single nucleotide variant not provided [RCV002216726] Chr8:30614692 [GRCh38]
Chr8:30472209 [GRCh37]
Chr8:8p12
likely benign
NM_002095.6(GTF2E2):c.420G>A (p.Lys140=) single nucleotide variant not provided [RCV002161632] Chr8:30612428 [GRCh38]
Chr8:30469945 [GRCh37]
Chr8:8p12
likely benign
NM_002095.6(GTF2E2):c.30G>A (p.Glu10=) single nucleotide variant not provided [RCV002157623] Chr8:30653569 [GRCh38]
Chr8:30511086 [GRCh37]
Chr8:8p12
likely benign
NM_002095.6(GTF2E2):c.318A>C (p.Thr106=) single nucleotide variant not provided [RCV002200400] Chr8:30614656 [GRCh38]
Chr8:30472173 [GRCh37]
Chr8:8p12
likely benign
NM_002095.6(GTF2E2):c.213T>C (p.Ser71=) single nucleotide variant not provided [RCV002123423] Chr8:30635077 [GRCh38]
Chr8:30492594 [GRCh37]
Chr8:8p12
likely benign
NM_002095.6(GTF2E2):c.366+16A>G single nucleotide variant not provided [RCV002143675] Chr8:30614592 [GRCh38]
Chr8:30472109 [GRCh37]
Chr8:8p12
likely benign
NM_002095.6(GTF2E2):c.264G>A (p.Arg88=) single nucleotide variant not provided [RCV002119482] Chr8:30614710 [GRCh38]
Chr8:30472227 [GRCh37]
Chr8:8p12
likely benign
NM_002095.6(GTF2E2):c.144G>A (p.Ser48=) single nucleotide variant not provided [RCV002144229] Chr8:30653455 [GRCh38]
Chr8:30510972 [GRCh37]
Chr8:8p12
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4651 AgrOrtholog
COSMIC GTF2E2 COSMIC
Ensembl Genes ENSG00000197265 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000348168 ENTREZGENE
  ENSP00000348168.4 UniProtKB/Swiss-Prot
  ENSP00000428981.1 UniProtKB/TrEMBL
  ENSP00000429312.1 UniProtKB/TrEMBL
  ENSP00000429921 ENTREZGENE
  ENSP00000429921.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000355904 ENTREZGENE
  ENST00000355904.9 UniProtKB/Swiss-Prot
  ENST00000518445.1 UniProtKB/TrEMBL
  ENST00000518599 ENTREZGENE
  ENST00000518599.5 UniProtKB/TrEMBL
  ENST00000523499.5 UniProtKB/TrEMBL
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000197265 GTEx
HGNC ID HGNC:4651 ENTREZGENE
Human Proteome Map GTF2E2 Human Proteome Map
InterPro TFA2_Winged_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TFIIE-bsu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TFIIE_bsu_DNA-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2961 UniProtKB/Swiss-Prot
NCBI Gene 2961 ENTREZGENE
OMIM 189964 OMIM
  616943 OMIM
PANTHER PTHR12716 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TFA2_Winged_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TFIIE_beta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29037 PharmGKB
PIRSF TFIIE-beta UniProtKB/Swiss-Prot
PROSITE TFIIE_BETA_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E5RH41_HUMAN UniProtKB/TrEMBL
  E5RIW4_HUMAN UniProtKB/TrEMBL
  E5RK24_HUMAN UniProtKB/TrEMBL
  P29084 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary D3DSV2 UniProtKB/Swiss-Prot
  Q9H2B9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 GTF2E2  general transcription factor IIE subunit 2    general transcription factor IIE, polypeptide 2, beta 34kDa  Symbol and/or name change 5135510 APPROVED