GTF2IRD2B (GTF2I repeat domain containing 2B) - Rat Genome Database

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Gene: GTF2IRD2B (GTF2I repeat domain containing 2B) Homo sapiens
Analyze
Symbol: GTF2IRD2B
Name: GTF2I repeat domain containing 2B
RGD ID: 1604691
HGNC Page HGNC:33125
Description: Predicted to enable DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: general transcription factor 2 I repeat domain-containing 2 beta; General transcription factor II-I repeat domain-containing protein 2A; general transcription factor II-I repeat domain-containing protein 2B; GTF2I repeat domain-containing protein 2A; GTF2I repeat domain-containing protein 2B; GTF2IRD2; GTF2IRD2 beta; GTF2IRD2A; Transcription factor GTF2IRD2-alpha; transcription factor GTF2IRD2-beta
RGD Orthologs
Dog
Pig
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38775,092,556 - 75,149,817 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl775,092,573 - 75,149,817 (+)EnsemblGRCh38hg38GRCh38
GRCh37774,508,347 - 74,565,623 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36774,146,283 - 74,203,559 (+)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map7q11.23NCBI
CHM1_1774,651,972 - 74,709,233 (+)NCBICHM1_1
T2T-CHM13v2.0776,296,499 - 76,353,770 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2773,841,411 - 73,898,687NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Biological Process

Cellular Component
nucleus  (IBA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15100712   PMID:15146197   PMID:15388857   PMID:16344560   PMID:21873635   PMID:23229069   PMID:26186194   PMID:28514442   PMID:28986522   PMID:29845934  
PMID:30228200   PMID:32296183   PMID:33961781  


Genomics

Comparative Map Data
GTF2IRD2B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38775,092,556 - 75,149,817 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl775,092,573 - 75,149,817 (+)EnsemblGRCh38hg38GRCh38
GRCh37774,508,347 - 74,565,623 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36774,146,283 - 74,203,559 (+)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map7q11.23NCBI
CHM1_1774,651,972 - 74,709,233 (+)NCBICHM1_1
T2T-CHM13v2.0776,296,499 - 76,353,770 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2773,841,411 - 73,898,687NCBI
LOC607692
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.165,635,276 - 5,698,829 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha67,336,981 - 7,403,710 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.065,452,172 - 5,518,908 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.165,476,855 - 5,507,369 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.065,390,713 - 5,457,627 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.065,553,161 - 5,619,889 (+)NCBIUU_Cfam_GSD_1.0
LOC100620992
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1311,841,953 - 11,898,456 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2311,560,514 - 11,617,409 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GTF2IRD2B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1288,281,979 - 8,326,957 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660708,269,680 - 8,341,006 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in GTF2IRD2B
9 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q11.23(chr7:75065669-75704220)x1 copy number loss See cases [RCV000050808] Chr7:75065669..75704220 [GRCh38]
Chr7:74481481..75217572 [GRCh37]
Chr7:74119417..75171474 [NCBI36]
Chr7:7q11.23		 uncertain significance
GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1 copy number loss See cases [RCV000050709] Chr7:71225344..81735657 [GRCh38]
Chr7:70690330..81364973 [GRCh37]
Chr7:70328266..81202909 [NCBI36]
Chr7:7q11.22-21.11		 pathogenic
GRCh38/hg38 7q11.21-21.11(chr7:64560824-79186156)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|See cases [RCV000052318] Chr7:64560824..79186156 [GRCh38]
Chr7:64021202..78815472 [GRCh37]
Chr7:63658637..78653408 [NCBI36]
Chr7:7q11.21-21.11		 pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:72649515-75361855)x3 copy number gain See cases [RCV000051965] Chr7:72649515..75361855 [GRCh38]
Chr7:72196405..74991125 [GRCh37]
Chr7:71752436..74829061 [NCBI36]
Chr7:7q11.22-11.23		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1 copy number loss See cases [RCV000054111] Chr7:69382353..77823832 [GRCh38]
Chr7:68847339..77453149 [GRCh37]
Chr7:68485275..77291085 [NCBI36]
Chr7:7q11.22-11.23		 pathogenic
GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1 copy number loss See cases [RCV000054118] Chr7:73873420..83988860 [GRCh38]
Chr7:73992744..83618176 [GRCh37]
Chr7:72925686..83456112 [NCBI36]
Chr7:7q11.23-21.11		 pathogenic
GRCh38/hg38 7q11.23(chr7:74176025-75361855)x1 copy number loss See cases [RCV000054121] Chr7:74176025..75361855 [GRCh38]
Chr7:73992744..74991125 [GRCh37]
Chr7:73228291..74829061 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-76722261)x1 copy number loss See cases [RCV000133638] Chr7:73352304..76722261 [GRCh38]
Chr7:72766313..76351578 [GRCh37]
Chr7:72404249..76189514 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3 copy number gain See cases [RCV000135712] Chr7:73040501..75255046 [GRCh38]
Chr7:74285295..76351578 [GRCh37]
Chr7:73923231..76189514 [NCBI36]
Chr7:7q11.23		 uncertain significance
GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3 copy number gain See cases [RCV000137731] Chr7:73040501..75255046 [GRCh38]
Chr7:72635638..74904285 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1 copy number loss See cases [RCV000142381] Chr7:74377395..82031742 [GRCh38]
Chr7:73992744..81661058 [GRCh37]
Chr7:73429661..81498994 [NCBI36]
Chr7:7q11.23-21.11		 pathogenic
GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3 copy number gain See cases [RCV000142242] Chr7:62977085..75415352 [GRCh38]
Chr7:62437463..75044630 [GRCh37]
Chr7:62074898..74882566 [NCBI36]
Chr7:7q11.21-11.23		 pathogenic
GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1 copy number loss See cases [RCV000142528] Chr7:62736364..75432710 [GRCh38]
Chr7:62196742..75061986 [GRCh37]
Chr7:61834177..74899922 [NCBI36]
Chr7:7q11.21-11.23		 pathogenic
GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071) copy number gain See cases [RCV000143454] Chr7:72179092..79164071 [GRCh38]
Chr7:71644077..78793387 [GRCh37]
Chr7:71282013..78631323 [NCBI36]
Chr7:7q11.22-21.11		 likely pathogenic
GRCh37/hg19 7q11.23(chr7:72589515-74629034) copy number loss Williams syndrome [RCV002280676] Chr7:72589515..74629034 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q11.23(chr7:73591993-75914797)x1 copy number loss See cases [RCV000240532] Chr7:73591993..75914797 [GRCh37]
Chr7:7q11.23		 likely pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q11.23(chr7:72456604-76007380)x1 copy number loss See cases [RCV000510782] Chr7:72456604..76007380 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72536980-74629034)x1 copy number loss See cases [RCV000512310] Chr7:72536980..74629034 [GRCh37]
Chr7:7q11.23		 pathogenic
Single allele deletion not provided [RCV000677988] Chr7:73591993..93683437 [GRCh37]
Chr7:7q11.23-21.3		 uncertain significance
GRCh37/hg19 7q11.23(chr7:72612042-74574641)x1 copy number loss not provided [RCV000682895] Chr7:72612042..74574641 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72577021-74859638)x3 copy number gain not provided [RCV000682898] Chr7:72577021..74859638 [GRCh37]
Chr7:7q11.23		 pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q11.23(chr7:74467885-74549829)x1 copy number loss not provided [RCV000746800] Chr7:74467885..74549829 [GRCh37]
Chr7:7q11.23		 benign
GRCh37/hg19 7q11.23(chr7:74470190-74515571)x1 copy number loss not provided [RCV000746801] Chr7:74470190..74515571 [GRCh37]
Chr7:7q11.23		 benign
GRCh37/hg19 7q11.23(chr7:74472431-74515571)x0 copy number loss not provided [RCV000746806] Chr7:74472431..74515571 [GRCh37]
Chr7:7q11.23		 benign
GRCh37/hg19 7q11.23(chr7:74472431-74516622)x1 copy number loss not provided [RCV000746807] Chr7:74472431..74516622 [GRCh37]
Chr7:7q11.23		 benign
GRCh37/hg19 7q11.23(chr7:74472431-74548319)x1 copy number loss not provided [RCV000746808] Chr7:74472431..74548319 [GRCh37]
Chr7:7q11.23		 benign
GRCh37/hg19 7q11.23(chr7:74472431-74549829)x1 copy number loss not provided [RCV000746809] Chr7:74472431..74549829 [GRCh37]
Chr7:7q11.23		 benign
GRCh37/hg19 7q11.23(chr7:74472782-74549829)x1 copy number loss not provided [RCV000746810] Chr7:74472782..74549829 [GRCh37]
Chr7:7q11.23		 benign
GRCh37/hg19 7q11.23(chr7:74473152-74515571)x1 copy number loss not provided [RCV000746812] Chr7:74473152..74515571 [GRCh37]
Chr7:7q11.23		 benign
GRCh37/hg19 7q11.23(chr7:72744494-76038818) copy number loss Williams syndrome [RCV000767638] Chr7:72744494..76038818 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72621722-76007380)x1 copy number loss not provided [RCV001005967] Chr7:72621722..76007380 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:73799886-75388031)x1 copy number loss not provided [RCV000848421] Chr7:73799886..75388031 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:74165273-74628840)x3 copy number gain not provided [RCV000849231] Chr7:74165273..74628840 [GRCh37]
Chr7:7q11.23		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q11.23(chr7:72403117-76709600)x1 copy number loss not provided [RCV001258798] Chr7:72403117..76709600 [GRCh37]
Chr7:7q11.23		 pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NC_000007.14:g.(75058300_?)_(?_79083658)del deletion Distal 7q11.23 microdeletion syndrome [RCV001839073] Chr7:75058300..79083658 [GRCh38]
Chr7:7q11.23-21.11		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_001003795.3(GTF2IRD2B):c.209C>T (p.Thr70Met) single nucleotide variant Inborn genetic diseases [RCV002683004] Chr7:75112506 [GRCh38]
Chr7:74528300 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_001003795.3(GTF2IRD2B):c.770G>A (p.Ser257Asn) single nucleotide variant Inborn genetic diseases [RCV002692300] Chr7:75135022 [GRCh38]
Chr7:74550832 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_001003795.3(GTF2IRD2B):c.422C>T (p.Ser141Leu) single nucleotide variant Inborn genetic diseases [RCV002645406] Chr7:75123199 [GRCh38]
Chr7:74539000 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_001003795.3(GTF2IRD2B):c.307G>A (p.Glu103Lys) single nucleotide variant Inborn genetic diseases [RCV002670304] Chr7:75120959 [GRCh38]
Chr7:74536760 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_001003795.3(GTF2IRD2B):c.302C>T (p.Ser101Leu) single nucleotide variant Inborn genetic diseases [RCV002714594] Chr7:75120954 [GRCh38]
Chr7:74536755 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_001003795.3(GTF2IRD2B):c.46T>C (p.Ser16Pro) single nucleotide variant Inborn genetic diseases [RCV003201198] Chr7:75109010 [GRCh38]
Chr7:74524802 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_001003795.3(GTF2IRD2B):c.167T>C (p.Val56Ala) single nucleotide variant Inborn genetic diseases [RCV003343089] Chr7:75112464 [GRCh38]
Chr7:74528258 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_001003795.3(GTF2IRD2B):c.761C>G (p.Ser254Cys) single nucleotide variant Inborn genetic diseases [RCV003370919] Chr7:75135013 [GRCh38]
Chr7:74550823 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_001003795.3(GTF2IRD2B):c.2628G>C (p.Thr876=) single nucleotide variant not provided [RCV003433898] Chr7:75149075 [GRCh38]
Chr7:74564881 [GRCh37]
Chr7:7q11.23		 likely benign
GRCh37/hg19 7q11.21-11.23(chr7:66776724-74629034)x3 copy number gain not specified [RCV003986715] Chr7:66776724..74629034 [GRCh37]
Chr7:7q11.21-11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72732819-76003862)x3 copy number gain not specified [RCV003986700] Chr7:72732819..76003862 [GRCh37]
Chr7:7q11.23		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3853
Count of miRNA genes:1157
Interacting mature miRNAs:1421
Transcripts:ENST00000312575, ENST00000356115, ENST00000394939, ENST00000398546, ENST00000418185, ENST00000423666, ENST00000430511, ENST00000472837, ENST00000478628, ENST00000483059, ENST00000526399, ENST00000528574, ENST00000529695
Prediction methods:Microtar, Miranda, Rnahybrid
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.

Markers in Region
D7S3266  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q11.23UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 505 198 576 4 41 616 265 446 15 672 529 4 67 544
Low 4269 5196 2730 1131 2542 819 7985 4031 6806 680 2099 2538 332 2338 5028 8
Below cutoff 31 570 36 36 1062 36 19 83 111 9 20 15 3 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001003795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC124781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC245150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY312850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY312851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC048252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU179187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN286208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA737308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH721920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000394939
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl775,133,155 - 75,144,068 (+)Ensembl
RefSeq Acc Id: ENST00000418185   ⟹   ENSP00000411454
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl775,092,612 - 75,149,817 (+)Ensembl
RefSeq Acc Id: ENST00000472837   ⟹   ENSP00000480524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl775,092,590 - 75,149,817 (+)Ensembl
RefSeq Acc Id: ENST00000611835
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl775,125,657 - 75,149,817 (+)Ensembl
RefSeq Acc Id: ENST00000614064   ⟹   ENSP00000481706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl775,092,600 - 75,112,699 (+)Ensembl
RefSeq Acc Id: ENST00000617708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl775,120,627 - 75,123,189 (+)Ensembl
RefSeq Acc Id: ENST00000619142   ⟹   ENSP00000480037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl775,092,592 - 75,146,950 (+)Ensembl
RefSeq Acc Id: ENST00000620662
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl775,092,573 - 75,123,877 (+)Ensembl
RefSeq Acc Id: ENST00000629105   ⟹   ENSP00000486360
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl775,092,592 - 75,146,931 (+)Ensembl
RefSeq Acc Id: ENST00000651028   ⟹   ENSP00000499147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl775,092,573 - 75,149,805 (+)Ensembl
RefSeq Acc Id: NM_001003795   ⟹   NP_001003795
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38775,092,590 - 75,149,817 (+)NCBI
GRCh37774,508,187 - 74,565,623 (+)NCBI
Build 36774,146,283 - 74,203,559 (+)NCBI Archive
CHM1_1774,651,972 - 74,709,233 (+)NCBI
T2T-CHM13v2.0776,296,533 - 76,353,770 (+)NCBI
CRA_TCAGchr7v2773,841,411 - 73,898,687 (+)RGD
Sequence:
RefSeq Acc Id: NM_001368301   ⟹   NP_001355230
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38775,092,556 - 75,112,699 (+)NCBI
T2T-CHM13v2.0776,296,499 - 76,316,642 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001368302   ⟹   NP_001355231
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38775,094,032 - 75,149,817 (+)NCBI
T2T-CHM13v2.0776,297,975 - 76,353,770 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001003795   ⟸   NM_001003795
- Peptide Label: isoform 1
- UniProtKB: Q8N979 (UniProtKB/Swiss-Prot),   Q69GU6 (UniProtKB/Swiss-Prot),   B2RNE9 (UniProtKB/Swiss-Prot),   Q9H739 (UniProtKB/Swiss-Prot),   Q6EKJ0 (UniProtKB/Swiss-Prot),   A0A494C1N8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001355230   ⟸   NM_001368301
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001355231   ⟸   NM_001368302
- Peptide Label: isoform 3
- UniProtKB: A0A494C1N8 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000499147   ⟸   ENST00000651028
RefSeq Acc Id: ENSP00000411454   ⟸   ENST00000418185
RefSeq Acc Id: ENSP00000481706   ⟸   ENST00000614064
RefSeq Acc Id: ENSP00000486360   ⟸   ENST00000629105
RefSeq Acc Id: ENSP00000480524   ⟸   ENST00000472837
RefSeq Acc Id: ENSP00000480037   ⟸   ENST00000619142
Protein Domains
HTH CENPB-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6EKJ0-F1-model_v2 AlphaFold Q6EKJ0 1-949 view protein structure

Promoters
RGD ID:6805753
Promoter ID:HG_KWN:58052
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001003795,   OTTHUMT00000342731,   UC003UBS.2,   UC010LCC.1,   UC010LCD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36774,146,459 - 74,146,959 (+)MPROMDB
RGD ID:7210821
Promoter ID:EPDNEW_H11157
Type:initiation region
Name:GTF2IRD2B_2
Description:GTF2I repeat domain containing 2B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11158  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38775,092,396 - 75,092,456EPDNEW
RGD ID:7210823
Promoter ID:EPDNEW_H11158
Type:initiation region
Name:GTF2IRD2B_1
Description:GTF2I repeat domain containing 2B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11157  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38775,092,527 - 75,092,587EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:33125 AgrOrtholog
COSMIC GTF2IRD2B COSMIC
Ensembl Genes ENSG00000174428 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000418185.6 UniProtKB/Swiss-Prot
  ENST00000472837 ENTREZGENE
  ENST00000472837.7 UniProtKB/Swiss-Prot
  ENST00000614064 ENTREZGENE
  ENST00000619142.4 UniProtKB/TrEMBL
  ENST00000651028 ENTREZGENE
  ENST00000651028.1 UniProtKB/TrEMBL
Gene3D-CATH 3.90.1460.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeodomain-like UniProtKB/TrEMBL
GTEx ENSG00000174428 GTEx
HGNC ID HGNC:33125 ENTREZGENE
Human Proteome Map GTF2IRD2B Human Proteome Map
InterPro GTF2I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GTF2I-like_rpt_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GTF2IRD2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox-like_sf UniProtKB/TrEMBL
  HTH_CenpB_DNA-bd_dom UniProtKB/TrEMBL
  HTH_Psq UniProtKB/TrEMBL
  RNaseH-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPIN-DOC_Znf-C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:389524 UniProtKB/Swiss-Prot
NCBI Gene 389524 ENTREZGENE
OMIM 608900 OMIM
PANTHER GENERAL TRANSCRIPTION FACTOR II-I REPEAT DOMAIN-CONTAINING PROTEIN 2A-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR47831 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CENP-B_N UniProtKB/TrEMBL
  GTF2I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HTH_Tnp_Tc5 UniProtKB/TrEMBL
  zf-C2H2_12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162390444 PharmGKB
PROSITE GTF2I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HTH_CENPB UniProtKB/TrEMBL
SMART CENPB UniProtKB/TrEMBL
Superfamily-SCOP SSF117773 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF46689 UniProtKB/TrEMBL
  SSF53098 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WW90_HUMAN UniProtKB/TrEMBL
  A0A494C1N8 ENTREZGENE, UniProtKB/TrEMBL
  B2RNE9 ENTREZGENE
  GTD2B_HUMAN UniProtKB/Swiss-Prot
  Q69GU6 ENTREZGENE
  Q6EKJ0 ENTREZGENE
  Q86Y00_HUMAN UniProtKB/TrEMBL
  Q8N979 ENTREZGENE
  Q9H739 ENTREZGENE
UniProt Secondary B2RNE9 UniProtKB/Swiss-Prot
  Q69GU6 UniProtKB/Swiss-Prot
  Q8N979 UniProtKB/Swiss-Prot
  Q9H739 UniProtKB/Swiss-Prot