GTF2B (general transcription factor IIB) - Rat Genome Database

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Gene: GTF2B (general transcription factor IIB) Homo sapiens
Analyze
Symbol: GTF2B
Name: general transcription factor IIB
RGD ID: 731364
HGNC Page HGNC:4648
Description: Enables several functions, including RNA polymerase II core promoter sequence-specific DNA binding activity; RNA polymerase II general transcription initiation factor activity; and TBP-class protein binding activity. Involved in several processes, including RNA polymerase II core complex assembly; protein acetylation; and transcription initiation at RNA polymerase II promoter. Located in chromosome and nuclear body. Part of protein-DNA complex and transcription factor TFIID complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: general transcription factor TFIIB; RNA polymerase II transcription factor IIB; S300-II; TF2B; TFIIB; transcription initiation factor IIB
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38188,852,633 - 88,891,567 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl188,852,633 - 88,891,944 (-)EnsemblGRCh38hg38GRCh38
GRCh37189,318,316 - 89,357,250 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36189,090,909 - 89,129,889 (-)NCBINCBI36Build 36hg18NCBI36
Build 34189,030,635 - 89,069,275NCBI
Celera187,564,104 - 87,603,098 (-)NCBICelera
Cytogenetic Map1p22.2NCBI
HuRef187,435,703 - 87,474,719 (-)NCBIHuRef
CHM1_1189,433,373 - 89,472,373 (-)NCBICHM1_1
T2T-CHM13v2.0188,696,014 - 88,734,967 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
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:1517211   PMID:1876184   PMID:1939271   PMID:1946368   PMID:2449431   PMID:3029109   PMID:7597030   PMID:7601352   PMID:7608968   PMID:7609079   PMID:7641693   PMID:7651839  
PMID:7666533   PMID:7671313   PMID:7675079   PMID:7706261   PMID:7707527   PMID:7707528   PMID:7757816   PMID:7848298   PMID:7913207   PMID:8006019   PMID:8162052   PMID:8413225  
PMID:8413269   PMID:8415761   PMID:8504927   PMID:8515820   PMID:8516312   PMID:8524305   PMID:8551580   PMID:8566795   PMID:8598193   PMID:8621548   PMID:8662660   PMID:8754792  
PMID:8800208   PMID:8849451   PMID:8870495   PMID:8889549   PMID:8946909   PMID:9054408   PMID:9058380   PMID:9089417   PMID:9121429   PMID:9159119   PMID:9177216   PMID:9259327  
PMID:9267036   PMID:9292011   PMID:9295363   PMID:9305922   PMID:9311902   PMID:9315662   PMID:9405375   PMID:9420329   PMID:9611234   PMID:9722567   PMID:9765201   PMID:9765293  
PMID:9792714   PMID:9812988   PMID:9841876   PMID:9874563   PMID:9892017   PMID:10220372   PMID:10318856   PMID:10330164   PMID:10359081   PMID:10409729   PMID:10449590   PMID:10454562  
PMID:10478848   PMID:10619841   PMID:10704334   PMID:10756192   PMID:11005381   PMID:11029584   PMID:11045620   PMID:11080476   PMID:11113176   PMID:11118327   PMID:11149922   PMID:11416169  
PMID:11782371   PMID:11864601   PMID:11959865   PMID:12167624   PMID:12392551   PMID:12477932   PMID:12529369   PMID:12535529   PMID:12552007   PMID:12578358   PMID:12665589   PMID:12791683  
PMID:12931194   PMID:12972613   PMID:14585974   PMID:14612417   PMID:14641108   PMID:14644612   PMID:14963322   PMID:15013781   PMID:15024075   PMID:15037660   PMID:15081896   PMID:15142377  
PMID:15197246   PMID:15207618   PMID:15207693   PMID:15249124   PMID:15265780   PMID:15282305   PMID:15342556   PMID:15353294   PMID:15489334   PMID:15604728   PMID:15635413   PMID:15710329  
PMID:15989968   PMID:16230532   PMID:16449650   PMID:16595664   PMID:16710414   PMID:16878124   PMID:17643375   PMID:17994014   PMID:18391015   PMID:18562274   PMID:18768974   PMID:19193635  
PMID:19235719   PMID:19275580   PMID:19590095   PMID:20226668   PMID:20347598   PMID:20398657   PMID:20880846   PMID:21489275   PMID:21873635   PMID:21896726   PMID:21988832   PMID:22079093  
PMID:22761572   PMID:22939629   PMID:23055019   PMID:23115335   PMID:23184937   PMID:23251661   PMID:23827503   PMID:23940030   PMID:24441171   PMID:25281560   PMID:25416956   PMID:25492609  
PMID:26016528   PMID:26186194   PMID:26284261   PMID:26344197   PMID:26496610   PMID:27193682   PMID:27432908   PMID:28298427   PMID:28514442   PMID:28515276   PMID:29158257   PMID:29540532  
PMID:31048545   PMID:31091453   PMID:31515488   PMID:31540324   PMID:31980649   PMID:32296183   PMID:32416067   PMID:32417370   PMID:32814053   PMID:33082525   PMID:33226137   PMID:33961781  
PMID:34079125   PMID:34373451   PMID:34461288   PMID:34597346   PMID:34795231   PMID:34932801   PMID:35271311   PMID:35831314   PMID:35944360   PMID:35947745   PMID:36575184   PMID:37108203  
PMID:37827155   PMID:38113892  


Genomics

Comparative Map Data
GTF2B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38188,852,633 - 88,891,567 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl188,852,633 - 88,891,944 (-)EnsemblGRCh38hg38GRCh38
GRCh37189,318,316 - 89,357,250 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36189,090,909 - 89,129,889 (-)NCBINCBI36Build 36hg18NCBI36
Build 34189,030,635 - 89,069,275NCBI
Celera187,564,104 - 87,603,098 (-)NCBICelera
Cytogenetic Map1p22.2NCBI
HuRef187,435,703 - 87,474,719 (-)NCBIHuRef
CHM1_1189,433,373 - 89,472,373 (-)NCBICHM1_1
T2T-CHM13v2.0188,696,014 - 88,734,967 (-)NCBIT2T-CHM13v2.0
Gtf2b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393142,471,008 - 142,489,367 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3142,470,806 - 142,489,367 (+)EnsemblGRCm39 Ensembl
GRCm383142,765,247 - 142,783,606 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3142,765,045 - 142,783,606 (+)EnsemblGRCm38mm10GRCm38
MGSCv373142,428,211 - 142,446,570 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363142,702,633 - 142,720,992 (+)NCBIMGSCv36mm8
Celera3149,197,374 - 149,215,676 (+)NCBICelera
Cytogenetic Map3H1NCBI
cM Map366.69NCBI
Gtf2b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82234,427,734 - 234,446,043 (+)NCBIGRCr8
mRatBN7.22231,767,317 - 231,785,626 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2231,767,238 - 231,785,651 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2239,546,251 - 239,564,580 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02237,440,531 - 237,458,860 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02232,303,904 - 232,322,233 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02248,709,433 - 248,727,741 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2248,715,281 - 248,727,741 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02267,239,559 - 267,257,867 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42240,877,342 - 240,895,650 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12240,864,081 - 240,882,390 (+)NCBI
Celera2223,777,527 - 223,795,808 (+)NCBICelera
Cytogenetic Map2q44NCBI
Gtf2b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554235,420,584 - 5,447,148 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554235,420,795 - 5,447,148 (+)NCBIChiLan1.0ChiLan1.0
GTF2B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21138,078,278 - 138,117,617 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11137,234,167 - 137,273,418 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0191,568,296 - 91,607,467 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1190,319,637 - 90,359,134 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl190,319,637 - 90,359,134 (-)Ensemblpanpan1.1panPan2
GTF2B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1659,491,986 - 59,527,142 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl659,492,055 - 59,527,054 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha662,200,289 - 62,235,125 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0660,003,234 - 60,038,110 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl660,003,305 - 60,081,246 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1659,568,745 - 59,603,586 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0659,524,029 - 59,558,856 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0660,009,800 - 60,044,657 (+)NCBIUU_Cfam_GSD_1.0
Gtf2b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505899,258,716 - 99,290,490 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936732148,369 - 183,067 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936732148,702 - 178,992 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GTF2B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4127,522,870 - 127,561,135 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14127,522,802 - 127,559,605 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24139,747,986 - 139,784,762 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GTF2B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12044,527,150 - 44,566,398 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2044,527,599 - 44,566,424 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603373,339,911 - 73,378,634 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gtf2b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247428,686,537 - 8,723,399 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247428,687,002 - 8,721,505 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GTF2B
10 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p31.1-13.3(chr1:72661709-107456880)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|See cases [RCV000051825] Chr1:72661709..107456880 [GRCh38]
Chr1:73127392..107999502 [GRCh37]
Chr1:72899980..107801025 [NCBI36]
Chr1:1p31.1-13.3
pathogenic
GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3 copy number gain See cases [RCV000135654] Chr1:83457325..104273917 [GRCh38]
Chr1:83923008..104816539 [GRCh37]
Chr1:83695596..104618062 [NCBI36]
Chr1:1p31.1-21.1
pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1 copy number loss See cases [RCV000510161] Chr1:72044544..92505091 [GRCh37]
Chr1:1p31.1-22.1
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p22.2(chr1:88840026-89512154)x3 copy number gain not provided [RCV000684595] Chr1:88840026..89512154 [GRCh37]
Chr1:1p22.2
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p22.2(chr1:89123443-89399431)x3 copy number gain not provided [RCV000736565] Chr1:89123443..89399431 [GRCh37]
Chr1:1p22.2
benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
GRCh37/hg19 1p22.2(chr1:89239549-89733747)x3 copy number gain not provided [RCV000846500] Chr1:89239549..89733747 [GRCh37]
Chr1:1p22.2
uncertain significance
GRCh37/hg19 1p22.2(chr1:89018909-89483015)x3 copy number gain not provided [RCV001005118] Chr1:89018909..89483015 [GRCh37]
Chr1:1p22.2
uncertain significance
GRCh37/hg19 1p31.1-22.2(chr1:80804502-89490384)x3 copy number gain not provided [RCV001259073] Chr1:80804502..89490384 [GRCh37]
Chr1:1p31.1-22.2
likely pathogenic
GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957) copy number loss not specified [RCV002053392] Chr1:68180293..92731957 [GRCh37]
Chr1:1p31.3-22.1
pathogenic
NM_001514.6(GTF2B):c.293A>G (p.Asn98Ser) single nucleotide variant not specified [RCV004288253] Chr1:88860252 [GRCh38]
Chr1:89325935 [GRCh37]
Chr1:1p22.2
uncertain significance
NM_001514.6(GTF2B):c.88G>A (p.Gly30Ser) single nucleotide variant not specified [RCV004184378] Chr1:88887297 [GRCh38]
Chr1:89352980 [GRCh37]
Chr1:1p22.2
uncertain significance
NM_001514.6(GTF2B):c.547G>A (p.Val183Ile) single nucleotide variant not specified [RCV004186260] Chr1:88857476 [GRCh38]
Chr1:89323159 [GRCh37]
Chr1:1p22.2
uncertain significance
GRCh37/hg19 1p22.2(chr1:88895486-91863052)x3 copy number gain not provided [RCV003484021] Chr1:88895486..91863052 [GRCh37]
Chr1:1p22.2
uncertain significance
GRCh37/hg19 1p22.3-22.2(chr1:87511398-90730302)x1 copy number loss not provided [RCV003483216] Chr1:87511398..90730302 [GRCh37]
Chr1:1p22.3-22.2
uncertain significance
NM_001514.6(GTF2B):c.94A>G (p.Met32Val) single nucleotide variant not specified [RCV004388423] Chr1:88887291 [GRCh38]
Chr1:89352974 [GRCh37]
Chr1:1p22.2
uncertain significance
NM_001514.6(GTF2B):c.923C>T (p.Thr308Ile) single nucleotide variant not specified [RCV004635048] Chr1:88853241 [GRCh38]
Chr1:89318924 [GRCh37]
Chr1:1p22.2
uncertain significance
NM_001514.6(GTF2B):c.220C>T (p.Leu74Phe) single nucleotide variant not specified [RCV004635047] Chr1:88864019 [GRCh38]
Chr1:89329702 [GRCh37]
Chr1:1p22.2
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR122hsa-miR-122-5pMirtarbaseexternal_infoqRT-PCRFunctional MTI (Weak)18073344

Predicted Target Of
Summary Value
Count of predictions:802
Count of miRNA genes:497
Interacting mature miRNAs:536
Transcripts:ENST00000370500, ENST00000418217, ENST00000448623, ENST00000471296, ENST00000471471, ENST00000486078, ENST00000494819
Prediction methods:Microtar, 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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406984676GWAS633652_Hsystolic blood pressure QTL GWAS633652 (human)9e-22systolic blood pressuresystolic blood pressure (CMO:0000004)18886641688866417Human
407418817GWAS1067793_Hpulse pressure measurement QTL GWAS1067793 (human)5e-19pulse pressure measurementpulse pressure (CMO:0000292)18886641688866417Human
1559226SLEP4_HSerum leptin concentration QTL 4 (human)3.4Hormone levelleptin181532913107532913Human
407017996GWAS666972_Hbody height QTL GWAS666972 (human)2e-18body height (VT:0001253)body height (CMO:0000106)18886001988860020Human
407005842GWAS654818_Hintraocular pressure measurement QTL GWAS654818 (human)9e-10intraocular pressure measurement18887857388878574Human
406980881GWAS629857_Hhematocrit QTL GWAS629857 (human)9e-16hematocrithematocrit (CMO:0000037)18887896688878967Human
406953810GWAS602786_Hserum gamma-glutamyl transferase measurement QTL GWAS602786 (human)3e-10serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)18888681588886816Human
407418911GWAS1067887_Hdiastolic blood pressure QTL GWAS1067887 (human)9e-11diastolic blood pressurediastolic blood pressure (CMO:0000005)18886641688866417Human
407308095GWAS957071_Hinsomnia QTL GWAS957071 (human)7e-09insomnia18885730088857301Human
407201373GWAS850349_Hcentral corneal thickness QTL GWAS850349 (human)4e-10central corneal thickness18885804488858045Human
2316890GLUCO302_HGlucose level QTL 302 (human)0.005Glucose level16853299294532992Human
2289499BW445_HBody weight QTL 445 (human)2.26Body morphometrywaist to hip ratio16853299294532992Human
407085817GWAS734793_Hsystolic blood pressure QTL GWAS734793 (human)3e-09systolic blood pressuresystolic blood pressure (CMO:0000004)18886641688866417Human
407028536GWAS677512_HICAM-1 measurement QTL GWAS677512 (human)0.000004ICAM-1 measurement18887572588875726Human
1581539BP75_HBlood pressure QTL 75 (human)2.40.001Blood pressurepulse pressure16853299294532992Human
2292793PRSTS24_HProstate tumor susceptibility QTL 24 (human)Prostate tumor susceptibilitylate onset16853299294532992Human
407325404GWAS974380_Hserum gamma-glutamyl transferase measurement QTL GWAS974380 (human)3e-11serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)18888162988881630Human
407398358GWAS1047334_Hsystolic blood pressure QTL GWAS1047334 (human)7e-23systolic blood pressuresystolic blood pressure (CMO:0000004)18886641688866417Human
407111962GWAS760938_Hwaist-hip ratio QTL GWAS760938 (human)9e-08waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)18888692988886930Human

Markers in Region
RH12661  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37189,318,759 - 89,318,894UniSTSGRCh37
Build 36189,091,347 - 89,091,482RGDNCBI36
Celera187,564,542 - 87,564,677RGD
Cytogenetic Map1p22-p21UniSTS
HuRef187,436,141 - 87,436,276UniSTS
GeneMap99-GB4 RH Map1247.44UniSTS
NCBI RH Map1575.5UniSTS
RH70846  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37189,318,763 - 89,318,896UniSTSGRCh37
Build 36189,091,351 - 89,091,484RGDNCBI36
Celera187,564,546 - 87,564,679RGD
Cytogenetic Map1p22-p21UniSTS
HuRef187,436,145 - 87,436,278UniSTS
GeneMap99-GB4 RH Map1247.54UniSTS
NCBI RH Map1579.4UniSTS
A002M34  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37189,318,893 - 89,318,999UniSTSGRCh37
Build 36189,091,481 - 89,091,587RGDNCBI36
Celera187,564,676 - 87,564,782RGD
Cytogenetic Map1p22-p21UniSTS
HuRef187,436,275 - 87,436,381UniSTS
GeneMap99-GB4 RH Map1244.07UniSTS
Whitehead-RH Map1261.0UniSTS
D1S3261  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37189,318,665 - 89,318,839UniSTSGRCh37
Build 36189,091,253 - 89,091,427RGDNCBI36
Celera187,564,448 - 87,564,622RGD
Cytogenetic Map1p22-p21UniSTS
HuRef187,436,047 - 87,436,221UniSTS
Stanford-G3 RH Map14380.0UniSTS
NCBI RH Map1611.9UniSTS
GeneMap99-G3 RH Map14336.0UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007059241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA031701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB451296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI457606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP379342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  F07886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M76766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S44184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000370500   ⟹   ENSP00000359531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl188,852,633 - 88,891,567 (-)Ensembl
Ensembl Acc Id: ENST00000418217   ⟹   ENSP00000402345
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl188,857,315 - 88,891,589 (-)Ensembl
Ensembl Acc Id: ENST00000448623   ⟹   ENSP00000415741
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl188,853,224 - 88,891,496 (-)Ensembl
Ensembl Acc Id: ENST00000471296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl188,863,986 - 88,888,048 (-)Ensembl
Ensembl Acc Id: ENST00000471471
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl188,864,044 - 88,891,944 (-)Ensembl
Ensembl Acc Id: ENST00000486078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl188,860,056 - 88,891,645 (-)Ensembl
Ensembl Acc Id: ENST00000494819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl188,857,265 - 88,891,527 (-)Ensembl
RefSeq Acc Id: NM_001514   ⟹   NP_001505
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38188,852,633 - 88,891,567 (-)NCBI
GRCh37189,318,321 - 89,357,301 (-)ENTREZGENE
Build 36189,090,909 - 89,129,889 (-)NCBI Archive
HuRef187,435,703 - 87,474,719 (-)ENTREZGENE
CHM1_1189,433,373 - 89,472,373 (-)NCBI
T2T-CHM13v2.0188,696,014 - 88,734,967 (-)NCBI
Sequence:
RefSeq Acc Id: XR_007059241
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38188,857,416 - 88,891,567 (-)NCBI
RefSeq Acc Id: XR_008486013
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0188,700,800 - 88,734,967 (-)NCBI
RefSeq Acc Id: NP_001505   ⟸   NM_001514
- UniProtKB: A8K1A7 (UniProtKB/Swiss-Prot),   Q5JS30 (UniProtKB/Swiss-Prot),   Q00403 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000359531   ⟸   ENST00000370500
Ensembl Acc Id: ENSP00000402345   ⟸   ENST00000418217
Ensembl Acc Id: ENSP00000415741   ⟸   ENST00000448623
Protein Domains
TFIIB-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q00403-F1-model_v2 AlphaFold Q00403 1-316 view protein structure

Promoters
RGD ID:6856122
Promoter ID:EPDNEW_H1226
Type:initiation region
Name:GTF2B_1
Description:general transcription factor IIB
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1227  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38188,891,567 - 88,891,627EPDNEW
RGD ID:6856124
Promoter ID:EPDNEW_H1227
Type:single initiation site
Name:GTF2B_2
Description:general transcription factor IIB
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1226  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38188,892,532 - 88,892,592EPDNEW
RGD ID:6785687
Promoter ID:HG_KWN:3536
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001514,   OTTHUMT00000029280,   OTTHUMT00000029281,   OTTHUMT00000029282,   OTTHUMT00000029283,   OTTHUMT00000029285,   UC009WCW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36189,129,801 - 89,130,937 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4648 AgrOrtholog
COSMIC GTF2B COSMIC
Ensembl Genes ENSG00000137947 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000370500 ENTREZGENE
  ENST00000370500.10 UniProtKB/Swiss-Prot
  ENST00000418217.1 UniProtKB/TrEMBL
  ENST00000448623.5 UniProtKB/TrEMBL
Gene3D-CATH 2.20.25.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyclin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000137947 GTEx
HGNC ID HGNC:4648 ENTREZGENE
Human Proteome Map GTF2B Human Proteome Map
InterPro Cyclin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyclin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TFIIB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TFIIB_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TFIIB_cyclin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_TFIIB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2959 UniProtKB/Swiss-Prot
NCBI Gene 2959 ENTREZGENE
OMIM 189963 OMIM
PANTHER PTHR11618 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSCRIPTION INITIATION FACTOR IIB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TF_Zn_Ribbon UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TFIIB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29035 PharmGKB
PRINTS TIFACTORIIB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TFIIB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_TFIIB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CYCLIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47954 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Zinc beta-ribbon UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K1A7 ENTREZGENE
  B1APE1_HUMAN UniProtKB/TrEMBL
  B1APE2_HUMAN UniProtKB/TrEMBL
  Q00403 ENTREZGENE
  Q5JS30 ENTREZGENE
  TF2B_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8K1A7 UniProtKB/Swiss-Prot
  Q5JS30 UniProtKB/Swiss-Prot