GTF2F2 (general transcription factor IIF subunit 2) - Rat Genome Database

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Gene: GTF2F2 (general transcription factor IIF subunit 2) Homo sapiens
Analyze
Symbol: GTF2F2
Name: general transcription factor IIF subunit 2
RGD ID: 733447
HGNC Page HGNC:4653
Description: Predicted to enable RNA polymerase II general transcription initiation factor activity. Involved in positive regulation of transcription by RNA polymerase II; transcription elongation by RNA polymerase II; and transcription initiation at RNA polymerase II promoter. Located in microtubule cytoskeleton and transcription factor TFIIF complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ATP-dependent helicase GTF2F2; BTF4; general transcription factor IIF 30 kDa subunit; general transcription factor IIF, polypeptide 2, 30kDa; RAP30; TF2F2; TFIIF; TFIIF-beta; transcription initiation factor IIF subunit beta; transcription initiation factor RAP30
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: GTF2F2P1   GTF2F2P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381345,120,510 - 45,284,893 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1345,120,510 - 45,284,893 (+)EnsemblGRCh38hg38GRCh38
GRCh371345,694,645 - 45,859,028 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361344,592,672 - 44,756,237 (+)NCBINCBI36Build 36hg18NCBI36
Build 341344,592,671 - 44,756,237NCBI
Celera1326,750,737 - 26,914,361 (+)NCBICelera
Cytogenetic Map13q14.12-q14.13NCBI
HuRef1326,496,415 - 26,659,718 (+)NCBIHuRef
CHM1_11345,662,169 - 45,825,812 (+)NCBICHM1_1
T2T-CHM13v2.01344,340,562 - 44,504,949 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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. Control of transcriptional elongation. Kwak H and Lis JT, Annu Rev Genet. 2013;47:483-508. doi: 10.1146/annurev-genet-110711-155440. Epub 2013 Sep 11.
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1559613   PMID:1840667   PMID:1939271   PMID:2449431   PMID:2477704   PMID:3860504   PMID:7827505   PMID:7854423   PMID:7926747   PMID:7929273   PMID:8162052   PMID:8441635  
PMID:8504927   PMID:8577725   PMID:8628277   PMID:8662660   PMID:8758937   PMID:8794892   PMID:8849451   PMID:8934526   PMID:8946909   PMID:9089417   PMID:9121429   PMID:9238003  
PMID:9265625   PMID:9295363   PMID:9305922   PMID:9405375   PMID:9409616   PMID:9512541   PMID:9677423   PMID:9689043   PMID:9765201   PMID:9790902   PMID:9841876   PMID:10373431  
PMID:10454543   PMID:10523626   PMID:10704353   PMID:11113176   PMID:11183778   PMID:11278533   PMID:12089333   PMID:12226669   PMID:12477932   PMID:12676794   PMID:12737519   PMID:12775419  
PMID:14612417   PMID:15282305   PMID:15351637   PMID:15489334   PMID:15635413   PMID:16083285   PMID:16169872   PMID:16344560   PMID:16712791   PMID:16791210   PMID:16878124   PMID:17643375  
PMID:18029348   PMID:18391015   PMID:18562274   PMID:18850631   PMID:19215094   PMID:20195357   PMID:20618999   PMID:21489275   PMID:21873635   PMID:21896726   PMID:22412018   PMID:22863883  
PMID:22939629   PMID:24163370   PMID:24981860   PMID:24999758   PMID:25492609   PMID:25921289   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26673895   PMID:28514442   PMID:28515276  
PMID:29568061   PMID:30021884   PMID:30022168   PMID:30196744   PMID:30415952   PMID:30554943   PMID:30585729   PMID:31048545   PMID:31091453   PMID:31239290   PMID:31248990   PMID:31324722  
PMID:31467278   PMID:31527615   PMID:32296183   PMID:32353859   PMID:32416067   PMID:32433965   PMID:32538781   PMID:32838362   PMID:32989298   PMID:33060197   PMID:33658012   PMID:33845483  
PMID:33916271   PMID:33961781   PMID:34079125   PMID:34189442   PMID:34373451   PMID:34597346   PMID:34795231   PMID:34921745   PMID:35235311   PMID:35271311   PMID:35439318   PMID:35545047  
PMID:35654790   PMID:35831314   PMID:35944360   PMID:35987950   PMID:36089195   PMID:36215168   PMID:36373674   PMID:36526897   PMID:36736316   PMID:36774506   PMID:37071664   PMID:37398436  
PMID:37827155   PMID:38113892   PMID:38280479  


Genomics

Comparative Map Data
GTF2F2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381345,120,510 - 45,284,893 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1345,120,510 - 45,284,893 (+)EnsemblGRCh38hg38GRCh38
GRCh371345,694,645 - 45,859,028 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361344,592,672 - 44,756,237 (+)NCBINCBI36Build 36hg18NCBI36
Build 341344,592,671 - 44,756,237NCBI
Celera1326,750,737 - 26,914,361 (+)NCBICelera
Cytogenetic Map13q14.12-q14.13NCBI
HuRef1326,496,415 - 26,659,718 (+)NCBIHuRef
CHM1_11345,662,169 - 45,825,812 (+)NCBICHM1_1
T2T-CHM13v2.01344,340,562 - 44,504,949 (+)NCBIT2T-CHM13v2.0
Gtf2f2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391476,134,368 - 76,248,356 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1476,134,377 - 76,248,305 (-)EnsemblGRCm39 Ensembl
GRCm381475,896,928 - 76,010,865 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1475,896,937 - 76,010,865 (-)EnsemblGRCm38mm10GRCm38
MGSCv371476,296,744 - 76,410,672 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361474,631,523 - 74,745,016 (-)NCBIMGSCv36mm8
Celera1473,398,175 - 73,511,806 (-)NCBICelera
Cytogenetic Map14D3NCBI
cM Map1440.29NCBI
Gtf2f2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81557,615,361 - 57,736,477 (-)NCBIGRCr8
mRatBN7.21551,206,027 - 51,327,166 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1551,206,031 - 51,327,253 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1555,364,405 - 55,485,389 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01556,482,728 - 56,603,708 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01553,304,878 - 53,426,373 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01557,942,057 - 58,068,892 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1557,942,059 - 58,068,892 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01561,647,679 - 61,771,945 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41556,803,445 - 56,925,046 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11556,819,226 - 56,940,826 (-)NCBI
Celera1550,832,708 - 50,953,647 (-)NCBICelera
Cytogenetic Map15q11NCBI
Gtf2f2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555182,912,259 - 3,064,298 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555182,912,259 - 3,064,298 (+)NCBIChiLan1.0ChiLan1.0
GTF2F2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21444,636,224 - 44,803,976 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11335,699,384 - 35,865,988 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01326,286,305 - 26,452,302 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13197,619,461 - 197,784,798 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3197,619,461 - 197,784,798 (-)Ensemblpanpan1.1panPan2
GTF2F2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1225,757,445 - 5,904,725 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl225,757,960 - 5,904,814 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha225,746,258 - 5,893,477 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0225,874,727 - 6,021,679 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl225,874,742 - 6,021,674 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1225,656,913 - 5,804,112 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0225,720,078 - 5,867,540 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0225,725,554 - 5,872,788 (-)NCBIUU_Cfam_GSD_1.0
Gtf2f2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945155,323,631 - 155,470,099 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367911,244,186 - 1,391,205 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367911,244,224 - 1,390,659 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GTF2F2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1121,983,832 - 22,144,954 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11121,987,410 - 22,144,921 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
GTF2F2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1323,195,682 - 23,380,628 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl323,212,334 - 23,384,036 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605720,681,850 - 20,850,290 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gtf2f2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247489,703,846 - 9,863,300 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247489,703,846 - 9,863,320 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GTF2F2
18 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000050293] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3		 pathogenic
GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1 copy number loss See cases [RCV000050891] Chr13:44967523..92738168 [GRCh38]
Chr13:45541658..93390421 [GRCh37]
Chr13:44439658..92188422 [NCBI36]
Chr13:13q14.12-31.3		 pathogenic
GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1 copy number loss See cases [RCV000051373] Chr13:30697728..69471973 [GRCh38]
Chr13:31271865..70046105 [GRCh37]
Chr13:30169865..68944106 [NCBI36]
Chr13:13q12.3-21.33		 pathogenic
GRCh38/hg38 13q13.3-14.2(chr13:38558617-47502862)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051377]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051377]|See cases [RCV000051377] Chr13:38558617..47502862 [GRCh38]
Chr13:39132754..48076997 [GRCh37]
Chr13:38030754..46974998 [NCBI36]
Chr13:13q13.3-14.2		 pathogenic
GRCh38/hg38 13q14.11-14.2(chr13:43505396-49983668)x1 copy number loss See cases [RCV000051378] Chr13:43505396..49983668 [GRCh38]
Chr13:44079532..50557804 [GRCh37]
Chr13:42977532..49455805 [NCBI36]
Chr13:13q14.11-14.2		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3 copy number gain See cases [RCV000053737] Chr13:30318913..83610426 [GRCh38]
Chr13:30893050..84184561 [GRCh37]
Chr13:29791050..83082562 [NCBI36]
Chr13:13q12.3-31.1		 pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 copy number gain See cases [RCV000053762] Chr13:43219125..114327314 [GRCh38]
Chr13:43793261..115085141 [GRCh37]
Chr13:42691261..114110891 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 copy number gain See cases [RCV000053764] Chr13:44164751..114327173 [GRCh38]
Chr13:44738887..115085141 [GRCh37]
Chr13:43636887..114110750 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 copy number gain See cases [RCV000053767] Chr13:44733046..114327173 [GRCh38]
Chr13:45307182..115085141 [GRCh37]
Chr13:44205182..114110750 [NCBI36]
Chr13:13q14.12-34		 pathogenic
GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1 copy number loss See cases [RCV000133696] Chr13:36777318..62955876 [GRCh38]
Chr13:37351455..63530009 [GRCh37]
Chr13:36249455..62428010 [NCBI36]
Chr13:13q13.3-21.31		 pathogenic
GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3 copy number gain See cases [RCV000133944] Chr13:41288493..85137552 [GRCh38]
Chr13:41862629..85711687 [GRCh37]
Chr13:40760629..84609688 [NCBI36]
Chr13:13q14.11-31.1		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3 copy number gain See cases [RCV000135808] Chr13:31553608..65470367 [GRCh38]
Chr13:32127745..66044499 [GRCh37]
Chr13:31025745..64942500 [NCBI36]
Chr13:13q12.3-21.32		 pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1 copy number loss See cases [RCV000136526] Chr13:41143820..85137552 [GRCh38]
Chr13:41717956..85711687 [GRCh37]
Chr13:40615956..84609688 [NCBI36]
Chr13:13q14.11-31.1		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1 copy number loss See cases [RCV000138723] Chr13:31018160..48491204 [GRCh38]
Chr13:31592297..49065340 [GRCh37]
Chr13:30490297..47963341 [NCBI36]
Chr13:13q12.3-14.2		 pathogenic
GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3 copy number gain See cases [RCV000138339] Chr13:32531486..86757044 [GRCh38]
Chr13:33105623..87409299 [GRCh37]
Chr13:32003623..86207300 [NCBI36]
Chr13:13q13.1-31.1		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1 copy number loss See cases [RCV000140744] Chr13:37864226..67963788 [GRCh38]
Chr13:38438363..68537920 [GRCh37]
Chr13:37336363..67435921 [NCBI36]
Chr13:13q13.3-21.32		 pathogenic
GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1 copy number loss See cases [RCV000140788] Chr13:38514177..51425214 [GRCh38]
Chr13:39088314..51999350 [GRCh37]
Chr13:37986314..50897351 [NCBI36]
Chr13:13q13.3-14.3		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000148244] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
NM_001286272.1(TPT1):c.*1472_*277473dup duplication Gestational diabetes mellitus uncontrolled [RCV000161697] Chr13:45060003..45336004 [GRCh38]
Chr13:45634138..45910139 [GRCh37]
Chr13:13q14.12-14.13		 not provided
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)x1 copy number loss See cases [RCV000446747] Chr13:42457841..91796698 [GRCh37]
Chr13:13q14.11-31.3		 pathogenic
GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)x1 copy number loss See cases [RCV000446067] Chr13:32946120..62698217 [GRCh37]
Chr13:13q13.1-21.31		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 copy number gain not provided [RCV000683572] Chr13:19436286..74045459 [GRCh37]
Chr13:13q11-22.1		 pathogenic
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_004128.3(GTF2F2):c.152G>A (p.Arg51Lys) single nucleotide variant not specified [RCV004301670] Chr13:45149781 [GRCh38]
Chr13:45723916 [GRCh37]
Chr13:13q14.12		 uncertain significance
GRCh37/hg19 13p13-q34(chr13:1-115169878) copy number gain Complete trisomy 13 syndrome [RCV002280659] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
GRCh37/hg19 13q14.12-14.3(chr13:45487628-52639336)x3 copy number gain not provided [RCV001258545] Chr13:45487628..52639336 [GRCh37]
Chr13:13q14.12-14.3		 likely pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
GRCh37/hg19 13q14.13-21.31(chr13:45819046-63910212)x1 copy number loss not provided [RCV001795546] Chr13:45819046..63910212 [GRCh37]
Chr13:13q14.13-21.31		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698) copy number loss not specified [RCV002053057] Chr13:42457841..91796698 [GRCh37]
Chr13:13q14.11-31.3		 pathogenic
GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217) copy number loss not specified [RCV002053048] Chr13:32946120..62698217 [GRCh37]
Chr13:13q13.1-21.31		 pathogenic
GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753) copy number loss not specified [RCV002053052] Chr13:36376204..80681753 [GRCh37]
Chr13:13q13.3-31.1		 pathogenic
GRCh37/hg19 13q14.11-14.3(chr13:44573371-53324137) copy number loss not specified [RCV002053058] Chr13:44573371..53324137 [GRCh37]
Chr13:13q14.11-14.3		 pathogenic
GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3 copy number gain not provided [RCV001829235] Chr13:42504540..108206269 [GRCh37]
Chr13:13q14.11-33.3		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 copy number gain not provided [RCV002291540] Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_004128.3(GTF2F2):c.595C>G (p.Leu199Val) single nucleotide variant not specified [RCV004300677] Chr13:45267341 [GRCh38]
Chr13:45841476 [GRCh37]
Chr13:13q14.13		 uncertain significance
NM_004128.3(GTF2F2):c.530G>T (p.Arg177Leu) single nucleotide variant not specified [RCV004318323] Chr13:45267276 [GRCh38]
Chr13:45841411 [GRCh37]
Chr13:13q14.13		 uncertain significance
NM_198404.3(KCTD4):c.659T>G (p.Leu220Trp) single nucleotide variant not specified [RCV004244211] Chr13:45193909 [GRCh38]
Chr13:45768044 [GRCh37]
Chr13:13q14.12		 uncertain significance
NM_198404.3(KCTD4):c.209C>T (p.Pro70Leu) single nucleotide variant not specified [RCV004161867] Chr13:45194359 [GRCh38]
Chr13:45768494 [GRCh37]
Chr13:13q14.12		 uncertain significance
NM_198404.3(KCTD4):c.449A>T (p.Asp150Val) single nucleotide variant not specified [RCV004129420] Chr13:45194119 [GRCh38]
Chr13:45768254 [GRCh37]
Chr13:13q14.12		 uncertain significance
NM_004128.3(GTF2F2):c.256C>G (p.Gln86Glu) single nucleotide variant not specified [RCV004191716] Chr13:45151783 [GRCh38]
Chr13:45725918 [GRCh37]
Chr13:13q14.12		 uncertain significance
NM_004128.3(GTF2F2):c.65A>G (p.Lys22Arg) single nucleotide variant not specified [RCV004105400] Chr13:45120720 [GRCh38]
Chr13:45694855 [GRCh37]
Chr13:13q14.12		 uncertain significance
NM_004128.3(GTF2F2):c.611A>T (p.Asp204Val) single nucleotide variant not specified [RCV004226886] Chr13:45267357 [GRCh38]
Chr13:45841492 [GRCh37]
Chr13:13q14.13		 uncertain significance
NM_198404.3(KCTD4):c.578T>C (p.Ile193Thr) single nucleotide variant not specified [RCV004241607] Chr13:45193990 [GRCh38]
Chr13:45768125 [GRCh37]
Chr13:13q14.12		 uncertain significance
NM_004128.3(GTF2F2):c.197A>G (p.His66Arg) single nucleotide variant not specified [RCV004174277] Chr13:45151724 [GRCh38]
Chr13:45725859 [GRCh37]
Chr13:13q14.12		 uncertain significance
NM_004128.3(GTF2F2):c.29C>T (p.Thr10Ile) single nucleotide variant not specified [RCV004178294] Chr13:45120684 [GRCh38]
Chr13:45694819 [GRCh37]
Chr13:13q14.12		 uncertain significance
NM_198404.3(KCTD4):c.29A>G (p.Lys10Arg) single nucleotide variant not specified [RCV004102712] Chr13:45194539 [GRCh38]
Chr13:45768674 [GRCh37]
Chr13:13q14.12		 uncertain significance
NM_198404.3(KCTD4):c.746T>C (p.Ile249Thr) single nucleotide variant not specified [RCV004248780] Chr13:45193822 [GRCh38]
Chr13:45767957 [GRCh37]
Chr13:13q14.12		 uncertain significance
NM_004128.3(GTF2F2):c.131G>A (p.Arg44Gln) single nucleotide variant not specified [RCV004250598] Chr13:45136797 [GRCh38]
Chr13:45710932 [GRCh37]
Chr13:13q14.12		 uncertain significance
NM_198404.3(KCTD4):c.487G>C (p.Asp163His) single nucleotide variant not specified [RCV004343193] Chr13:45194081 [GRCh38]
Chr13:45768216 [GRCh37]
Chr13:13q14.12		 uncertain significance
NM_004128.3(GTF2F2):c.203T>C (p.Ile68Thr) single nucleotide variant not specified [RCV004345889] Chr13:45151730 [GRCh38]
Chr13:45725865 [GRCh37]
Chr13:13q14.12		 uncertain significance
GRCh37/hg19 13q14.11-21.2(chr13:44076923-60520078)x1 copy number loss not specified [RCV003987012] Chr13:44076923..60520078 [GRCh37]
Chr13:13q14.11-21.2		 pathogenic
GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3 copy number gain not specified [RCV003987040] Chr13:35015723..59553519 [GRCh37]
Chr13:13q13.2-21.1		 pathogenic
NM_004128.3(GTF2F2):c.319G>A (p.Glu107Lys) single nucleotide variant not specified [RCV004388446] Chr13:45207438 [GRCh38]
Chr13:45781573 [GRCh37]
Chr13:13q14.13		 uncertain significance
GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1 copy number loss not provided [RCV003885457] Chr13:34884647..61309742 [GRCh37]
Chr13:13q13.2-21.2		 pathogenic
NM_004128.3(GTF2F2):c.325A>G (p.Ile109Val) single nucleotide variant not specified [RCV004388447] Chr13:45207444 [GRCh38]
Chr13:45781579 [GRCh37]
Chr13:13q14.13		 uncertain significance
NM_198404.3(KCTD4):c.268C>G (p.Leu90Val) single nucleotide variant not specified [RCV004408944] Chr13:45194300 [GRCh38]
Chr13:45768435 [GRCh37]
Chr13:13q14.12		 uncertain significance
NM_198404.3(KCTD4):c.511C>T (p.Arg171Cys) single nucleotide variant not specified [RCV004408945] Chr13:45194057 [GRCh38]
Chr13:45768192 [GRCh37]
Chr13:13q14.12		 uncertain significance
NM_198404.3(KCTD4):c.512G>A (p.Arg171His) single nucleotide variant not specified [RCV004408946] Chr13:45194056 [GRCh38]
Chr13:45768191 [GRCh37]
Chr13:13q14.12		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:359
Count of miRNA genes:238
Interacting mature miRNAs:245
Transcripts:ENST00000340473, ENST00000461904, ENST00000494087
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.

Markers in Region
RH44730  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371345,799,960 - 45,800,128UniSTSGRCh37
Build 361344,697,960 - 44,698,128RGDNCBI36
Celera1326,856,082 - 26,856,250RGD
Cytogenetic Map13q14UniSTS
HuRef1326,601,641 - 26,601,809UniSTS
D13S190  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371345,696,754 - 45,696,883UniSTSGRCh37
Build 361344,594,754 - 44,594,883RGDNCBI36
Celera1326,752,860 - 26,752,989RGD
Cytogenetic Map13q14UniSTS
HuRef1326,498,538 - 26,498,667UniSTS
G67441  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371345,795,285 - 45,795,455UniSTSGRCh37
Build 361344,693,285 - 44,693,455RGDNCBI36
Celera1326,851,407 - 26,851,577RGD
Cytogenetic Map13q14UniSTS
HuRef1326,596,967 - 26,597,137UniSTS
G67442  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371345,822,371 - 45,822,490UniSTSGRCh37
Build 361344,720,371 - 44,720,490RGDNCBI36
Celera1326,878,493 - 26,878,612RGD
Cytogenetic Map13q14UniSTS
HuRef1326,623,885 - 26,624,004UniSTS
A004S30  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371345,767,315 - 45,767,441UniSTSGRCh37
Build 361344,665,315 - 44,665,441RGDNCBI36
Celera1326,823,420 - 26,823,546RGD
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q14.12UniSTS
HuRef1326,568,979 - 26,569,105UniSTS
GeneMap99-GB4 RH Map13135.29UniSTS
Whitehead-RH Map13130.6UniSTS
D13S808  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371345,713,344 - 45,713,543UniSTSGRCh37
Build 361344,611,344 - 44,611,543RGDNCBI36
Celera1326,769,450 - 26,769,649RGD
Cytogenetic Map13q14UniSTS
HuRef1326,515,197 - 26,515,396UniSTS
Whitehead-YAC Contig Map13 UniSTS
STS-X16901  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371345,857,753 - 45,858,029UniSTSGRCh37
Build 361344,755,753 - 44,756,029RGDNCBI36
Celera1326,913,874 - 26,914,150RGD
Cytogenetic Map13q14UniSTS
HuRef1326,659,231 - 26,659,507UniSTS
GeneMap99-GB4 RH Map13135.7UniSTS
SHGC-11937  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371345,857,757 - 45,858,084UniSTSGRCh37
Build 361344,755,757 - 44,756,084RGDNCBI36
Celera1326,913,878 - 26,914,205RGD
Cytogenetic Map13q14UniSTS
HuRef1326,659,235 - 26,659,562UniSTS
Stanford-G3 RH Map131073.0UniSTS
NCBI RH Map13417.1UniSTS
GeneMap99-G3 RH Map131069.0UniSTS
WI-13796  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371345,767,263 - 45,767,389UniSTSGRCh37
Build 361344,665,263 - 44,665,389RGDNCBI36
Celera1326,823,368 - 26,823,494RGD
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q14.12UniSTS
HuRef1326,568,927 - 26,569,053UniSTS
GeneMap99-GB4 RH Map13148.23UniSTS
Whitehead-RH Map13131.6UniSTS
GTF2F2_3372  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371345,857,579 - 45,858,237UniSTSGRCh37
Build 361344,755,579 - 44,756,237RGDNCBI36
Celera1326,913,700 - 26,914,358RGD
HuRef1326,659,057 - 26,659,715UniSTS


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 1687 1548 1336 248 980 140 3768 1216 1933 305 1381 1443 122 842 2339 3
Low 745 1430 387 374 962 324 587 977 1775 113 67 165 49 362 449 1
Below cutoff 6 7 2 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_004128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK291545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL138693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL138963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA429230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB124466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB252856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X16901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X59745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000340473   ⟹   ENSP00000340823
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1345,120,510 - 45,284,893 (+)Ensembl
RefSeq Acc Id: ENST00000461904
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1345,219,353 - 45,267,363 (+)Ensembl
RefSeq Acc Id: ENST00000494087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1345,206,355 - 45,267,333 (+)Ensembl
RefSeq Acc Id: ENST00000706694   ⟹   ENSP00000516507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1345,151,699 - 45,284,085 (+)Ensembl
RefSeq Acc Id: ENST00000706695
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1345,195,456 - 45,284,085 (+)Ensembl
RefSeq Acc Id: ENST00000706696
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1345,207,040 - 45,284,105 (+)Ensembl
RefSeq Acc Id: ENST00000706697
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1345,207,355 - 45,253,725 (+)Ensembl
RefSeq Acc Id: NM_004128   ⟹   NP_004119
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381345,120,510 - 45,284,893 (+)NCBI
GRCh371345,694,631 - 45,858,240 (+)ENTREZGENE
Build 361344,592,672 - 44,756,237 (+)NCBI Archive
HuRef1326,496,415 - 26,659,718 (+)ENTREZGENE
CHM1_11345,662,169 - 45,825,812 (+)NCBI
T2T-CHM13v2.01344,340,562 - 44,504,949 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011535052   ⟹   XP_011533354
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381345,120,510 - 45,284,893 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011535053   ⟹   XP_011533355
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381345,120,510 - 45,186,002 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020551   ⟹   XP_016876040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381345,195,357 - 45,284,893 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054374481   ⟹   XP_054230456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01344,340,562 - 44,504,949 (+)NCBI
RefSeq Acc Id: XM_054374482   ⟹   XP_054230457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01344,415,408 - 44,504,949 (+)NCBI
RefSeq Acc Id: XM_054374483   ⟹   XP_054230458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01344,340,562 - 44,406,057 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_004119   ⟸   NM_004128
- UniProtKB: A6NNS5 (UniProtKB/Swiss-Prot),   Q5W0H3 (UniProtKB/Swiss-Prot),   P13984 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011533354   ⟸   XM_011535052
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011533355   ⟸   XM_011535053
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016876040   ⟸   XM_017020551
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000340823   ⟸   ENST00000340473
RefSeq Acc Id: ENSP00000516507   ⟸   ENST00000706694
RefSeq Acc Id: XP_054230456   ⟸   XM_054374481
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054230458   ⟸   XM_054374483
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054230457   ⟸   XM_054374482
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P13984-F1-model_v2 AlphaFold P13984 1-249 view protein structure

Promoters
RGD ID:6790896
Promoter ID:HG_KWN:17738
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:ENST00000340473,   NM_004128,   UC001UZV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361344,591,901 - 44,592,732 (+)MPROMDB
RGD ID:6851530
Promoter ID:EP73566
Type:initiation region
Name:HS_GTF2F2
Description:General transcription factor IIF, polypeptide 2 (30kD subunit).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361344,592,637 - 44,592,697EPD
RGD ID:6790897
Promoter ID:HG_KWN:17741
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:OTTHUMT00000044768
Position:
Human AssemblyChrPosition (strand)Source
Build 361344,678,399 - 44,678,899 (+)MPROMDB
RGD ID:7226353
Promoter ID:EPDNEW_H18920
Type:initiation region
Name:GTF2F2_1
Description:general transcription factor IIF subunit 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381345,120,510 - 45,120,570EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4653 AgrOrtholog
COSMIC GTF2F2 COSMIC
Ensembl Genes ENSG00000188342 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000340473 ENTREZGENE
  ENST00000340473.8 UniProtKB/Swiss-Prot
  ENST00000706694.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000188342 GTEx
HGNC ID HGNC:4653 ENTREZGENE
Human Proteome Map GTF2F2 Human Proteome Map
InterPro TFIIF_beta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TFIIF_beta_HTH UniProtKB/Swiss-Prot
  TFIIF_beta_N UniProtKB/Swiss-Prot
  TFIIF_interaction UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot
  WH_DNA-bd_sf UniProtKB/Swiss-Prot
KEGG Report hsa:2963 UniProtKB/Swiss-Prot
NCBI Gene 2963 ENTREZGENE
OMIM 189969 OMIM
PANTHER GENERAL TRANSCRIPTION FACTOR IIF SUBUNIT 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10445 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TFIIF_beta UniProtKB/Swiss-Prot
  TFIIF_beta_N UniProtKB/Swiss-Prot
PharmGKB PA29039 PharmGKB
PIRSF TFIIF-beta UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46785 UniProtKB/Swiss-Prot
  SSF50916 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A9L9PX76_HUMAN UniProtKB/TrEMBL
  A6NNS5 ENTREZGENE
  P13984 ENTREZGENE
  Q5W0H3 ENTREZGENE
  T2FB_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A6NNS5 UniProtKB/Swiss-Prot
  Q5W0H3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 GTF2F2  general transcription factor IIF subunit 2    general transcription factor IIF, polypeptide 2, 30kDa  Symbol and/or name change 5135510 APPROVED