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Analyze GeneStrainQTL List |
 Gene Annotator (Functional Annotation) unavailable |
 Gene Annotator (Annotation Distribution) unavailable |
 Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable |
Gene Annotator (Functional Annotation) |
Gene Annotator (Annotation Distribution) |
Variant Visualizer (Genomic Variants) |
 InterViewer (Protein-Protein Interactions) unavailable |
 Gviewer (Genome Viewer) unavailable |
 Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable |
InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
 Gene Annotator (Annotation Comparison) unavailable |
 OLGA (Gene List Generator) unavailable |
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Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
 MOET (Multi-Ontology Enrichement) unavailable |
 GOLF (Gene-Ortholog Location Finder) unavailable |
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MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
Imported Annotations - OMIM | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nonphotosensitive Trichothiodystrophy 6 | IAGP | 7240710 | OMIM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene-Chemical Interaction AnnotationsGene Ontology AnnotationsMolecular Pathway AnnotationsPhenotype AnnotationsDisease AnnotationsGene-Chemical Interaction Annotations
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Gene Ontology Annotations
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Molecular Pathway AnnotationsPhenotype Annotations
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References - curated| 1. | GOA_HUMAN data from the GO Consortium |
| 2. | 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. | RGD automated import pipeline for gene-chemical interactions |
References - uncurated| PubMed | 1939271 1956398 1956404 2026628 2251258 2449431 3029109 7651391 7876263 7926747 8152490 8628277 8786118 8849451 8934526 8946909 8999876 9054383 9089417 9121429 9271120 9405375 9618479 9677423 10777215 10792464 10827951 11113176 11416139 11509574 12477932 12665589 15489334 16547462 17643375 18029348 19106100 19210545 19861958 20125193 21244100 21489275 21832049 21873635 21988832 22404213 22658674 22678362 22863883 22939629 23064645 23934736 25308091 26344197 26996949 27193682 27602723 27639436 28514442 28515276 28700943 28973399 28986522 29117863 29121065 29568061 30585729 30890647 |
Comparative Map Data| GTF2E2 (Homo sapiens - human) |
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| Gtf2e2 (Mus musculus - house mouse) |
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| Gtf2e2 (Rattus norvegicus - Norway rat) |
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| Gtf2e2 (Chinchilla lanigera - long-tailed chinchilla) |
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| GTF2E2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| GTF2E2 (Canis lupus familiaris - dog) |
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| Gtf2e2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| GTF2E2 (Sus scrofa - pig) |
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| GTF2E2 (Chlorocebus sabaeus - green monkey) |
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| Gtf2e2 (Heterocephalus glaber - naked mole-rat) |
No map positions available. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Position Markers| G36444 |
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| G32125 |
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| RH11463 |
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| RH93000 |
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| RH103819 |
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| D8S1862 |
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| D8S2166 |
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| D8S2241 |
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| D8S2214 |
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| RH47774 |
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| WI-19229 |
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miRNA Target Status
| 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. |
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RNA-SEQ Expression| leukocyte | uterine cervix | nose | pituitary gland | peripheral nervous system | zone of skin | lymph node | large intestine | oral cavity | blood | breast | throat | mucosa | prefrontal cortex | testis | stomach | heart | brain | cerebral cortex | eye | pleura | penis | ovary | uterus | vagina | mammalian vulva | seminal vesicle | vas deferens | adipose tissue | musculature | chordate pharynx | esophagus | saliva-secreting gland | rectum | diaphragm | skeletal muscle tissue | smooth muscle tissue | caecum | vermiform appendix | colon | sigmoid colon | renal pelvis | cortex of kidney | urinary bladder | pancreas | endometrium | epididymis | muscle of leg | muscle of arm | nasal septum | tongue | submandibular gland | skeletal muscle of trunk | parotid gland | temporal lobe | parietal lobe | caudate nucleus | putamen | globus pallidus | forebrain | diencephalon | medulla oblongata | placenta | occipital lobe | hindbrain | epithelium of bronchus | cerebellum | substantia nigra | thyroid gland | lung | left cardiac atrium | spleen | liver | small intestine | gall bladder | kidney | duodenum | ileum | tricuspid valve | mitral valve | pulmonary valve | locus ceruleus | spinal cord | dura mater | prostate gland | adrenal gland | thymus | bone marrow | tonsil | connective tissue | hematopoietic system | bile duct | cartilage tissue | bone tissue | middle frontal gyrus | middle temporal gyrus | brain meninx | mouth mucosa | fallopian tube | left kidney | dorsal thalamus | umbilical cord blood | venous blood | frontal lobe | occipital cortex | left renal pelvis | right renal pelvis | distal gut | proximal gut | terminal ileum | |
| High | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Medium | 1 | 40 | 17 | 300 | 25 | 86 | 4 | 622 | 169 | 28 | 1 | 27 | 71 | 16 | 110 | 1 | 3 | 180 | 49 | 3 | 3 | 4 | 2 | 33 | 2 | 2 | 1 | 2 | 1 | 46 | 2 | 1 | 1 | 37 | 111 | 1 | 1 | 1 | 1 | 8 | 20 | 4 | 11 | 2 | 1 | 59 | 308 | 2 | 192 | 3 | 3 | 249 | 1 | 1 | 1 | 28 | 6 | 4 | 6 | 2 | 6 | 82 | 2 | 2 | 43 | 43 | 1 | 1 | 12 | 9 | 1 | 1 | 1 | 1 | 1 | |||||||||||||||||||||||||||||||||||
| Low | 1 | 1 | 2 | 1 | 1 | 1 | 8 | 1 | 1 | 1 | 3 | 1 | 1 | 1 | 1 | 1 | 1 | 6 | 1 | 1 | 2 | 2 | 1 | 1 | 1 | 1 | 1 | 2 | 1 | 1 | 1 | 2 | 1 | 1 | 1 | 41 | 1 | 1 | 16 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Below cutoff | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 2 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 |
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 | |
| S67861 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| X63469 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| RefSeq Acc Id: | NM_001348353 ⟹ NP_001335282 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
TGCTCATACGCGGACTGCTTTCTAGGCTACCTTTTGGAGATTTGCATTATGGATCCAAGCCTGThide sequence |
| RefSeq Acc Id: | NM_002095 ⟹ NP_002086 | |||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
CCGGGACTGAGCTCCTAGCACCCGATCGGGAAGTGGCGGGCGGAGTCCCGGGTCCAGTCGCCGChide sequence |
| RefSeq Acc Id: | XM_011544509 ⟹ XP_011542811 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CCGGGACTGAGCTCCTAGCACCCGATCGGGAAGTGGCGGGCGGAGTCCCGGGTCCAGTCGCCGChide sequence |
| RefSeq Acc Id: | XM_011544510 ⟹ XP_011542812 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CCGGGACTGAGCTCCTAGCACCCGATCGGGAAGTGGCGGGCGGAGTCCCGGGTCCAGTCGCCGChide sequence |
| RefSeq Acc Id: | XM_017013363 ⟹ XP_016868852 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
TGCTGTATCCCCCAGGCTGGAGGGCAGTGGCGGGATCTCAGCTTACTGCAACCTCTGCTGGACThide sequence |
| RefSeq Acc Id: | XM_017013364 ⟹ XP_016868853 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ATACGCGGACTGCTTTCTAGGCTACCTTTTGGAGATTTGCATTATGGATCCAAGCCTGTTGAGAhide sequence |
| RefSeq Acc Id: | XM_024447138 ⟹ XP_024302906 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GAGTAGCTGGGACTGTAAGCACACATCACCATGCCTGCCTGATTTTTTGTATTTTTGTAGACAGhide sequence |
Protein Sequences| Protein RefSeqs | NP_001335282 | (Get FASTA) | NCBI Sequence Viewer |
| NP_002086 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011542811 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011542812 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016868852 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016868853 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024302906 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAB20414 | (Get FASTA) | NCBI Sequence Viewer |
| AAH30572 | (Get FASTA) | NCBI Sequence Viewer | |
| CAA45069 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW63446 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW63447 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW63448 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW63449 | (Get FASTA) | NCBI Sequence Viewer | |
| P29084 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_002086 ⟸ NM_002095 |
| - Peptide Label: | isoform 1 |
| - UniProtKB: | P29084 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MDPSLLRERELFKKRALSTPVVEKRSASSESSSSSSKKKKTKVEHGGSSGSKQNSDHSNGSFNLhide sequence |
| RefSeq Acc Id: | XP_011542811 ⟸ XM_011544509 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MDPSLLRERELFKKRALSTPVVEKRSASSESSSSSSKKKKTKVEHGGSSGSKQNSDHSNGSFNLhide sequence |
| RefSeq Acc Id: | XP_011542812 ⟸ XM_011544510 |
| - Peptide Label: | isoform X3 |
| - Sequence: |
MDPSLLRERELFKKRALSTPVVEKRSASSESSSSSSKKKKTKVEHGGSSGSKQNSDHSNGSFNLhide sequence |
| RefSeq Acc Id: | XP_016868853 ⟸ XM_017013364 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | P29084 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MDPSLLRERELFKKRALSTPVVEKRSASSESSSSSSKKKKTKVEHGGSSGSKQNSDHSNGSFNLhide sequence |
| RefSeq Acc Id: | XP_016868852 ⟸ XM_017013363 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | P29084 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MDPSLLRERELFKKRALSTPVVEKRSASSESSSSSSKKKKTKVEHGGSSGSKQNSDHSNGSFNLhide sequence |
| RefSeq Acc Id: | XP_024302906 ⟸ XM_024447138 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MDPSLLRERELFKKRALSTPVVEKRSASSESSSSSSKKKKTKVEHGGSSGSKQNSDHSNGSFNLhide sequence |
| RefSeq Acc Id: | NP_001335282 ⟸ NM_001348353 |
| - Peptide Label: | isoform 2 |
| - Sequence: |
MDPSLLRERELFKKRALSTPVVEKRSASSESSSSSSKKKKTKVEHGGSSGSKQNSDHSNGSFNLhide sequence |
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: |
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| 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: |
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| 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: |
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Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 | copy number gain | Coloboma [RCV000050294]|Congenital ocular coloboma [RCV000050294]|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 | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050995]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050995]|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 | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050904]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050904]|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 | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050912]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050912]|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 | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051145]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051145]|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 | Seizures [RCV000051206]|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 | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051110]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051110]|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 | Global developmental delay [RCV000053630]|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 | Corpus callosum agenesis [RCV000053632]|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 | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053635]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053635]|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 | Abnormal facial shape [RCV000053629]|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 | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053602]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053602]|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 | Abnormality of the heart [RCV000053599]|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 | Chiari malformation type II [RCV000054237]|See cases [RCV000054237] | Chr8:24910364..31210737 [GRCh38] Chr8:24767877..31068253 [GRCh37] Chr8:24823781..31187795 [NCBI36] Chr8:8p21.2-12 |
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 |
| 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.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.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 |
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:4651 | AgrOrtholog |
| COSMIC | GTF2E2 | COSMIC |
| Ensembl Genes | ENSG00000197265 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000348168 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000428981 | UniProtKB/TrEMBL | |
| ENSP00000429312 | UniProtKB/TrEMBL | |
| ENSP00000429921 | ENTREZGENE, UniProtKB/TrEMBL | |
| Ensembl Transcript | ENST00000355904 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000518445 | UniProtKB/TrEMBL | |
| ENST00000518599 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000523499 | UniProtKB/TrEMBL | |
| Gene3D-CATH | 1.10.10.10 | UniProtKB/Swiss-Prot |
| GTEx | ENSG00000197265 | GTEx |
| HGNC ID | HGNC:4651 | ENTREZGENE |
| Human Proteome Map | GTF2E2 | Human Proteome Map |
| InterPro | TFA2_Winged_2 | UniProtKB/Swiss-Prot |
| TFIIE-bsu | UniProtKB/Swiss-Prot | |
| TFIIE_bsu_DNA-bd | UniProtKB/Swiss-Prot | |
| WH-like_DNA-bd_sf | UniProtKB/Swiss-Prot | |
| WH_DNA-bd_sf | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:2961 | UniProtKB/Swiss-Prot |
| NCBI Gene | 2961 | ENTREZGENE |
| OMIM | 189964 | OMIM |
| 616943 | OMIM | |
| PANTHER | PTHR12716 | UniProtKB/Swiss-Prot |
| Pfam | TFA2_Winged_2 | UniProtKB/Swiss-Prot |
| TFIIE_beta | UniProtKB/Swiss-Prot | |
| PharmGKB | PA29037 | PharmGKB |
| PIRSF | TFIIE-beta | UniProtKB/Swiss-Prot |
| PROSITE | TFIIE_BETA_C | UniProtKB/Swiss-Prot |
| Superfamily-SCOP | SSF46785 | UniProtKB/Swiss-Prot |
| UniGene | Hs.77100 | ENTREZGENE |
| 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 |
 |
| More on GTF2E2 | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
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JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| RGD Object Information | |
| RGD ID: | 1320859 |
| Created: | 2005-01-12 |
| Species: | Homo sapiens |
| Last Modified: | 2020-02-11 |
| Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.
