PFKFB2 (6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2) - Rat Genome Database
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Gene: PFKFB2 (6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2) Homo sapiens
Analyze
Symbol: PFKFB2
Name: 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2
RGD ID: 69042
HGNC Page HGNC
Description: Exhibits 6-phosphofructo-2-kinase activity and protein kinase binding activity. Involved in glycolytic process. Localizes to nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2; 6PF-2-K/Fru-2,6-P2ase 2; 6PF-2-K/Fru-2,6-P2ASE heart-type isozyme; DKFZp781D2217; fructose-2,6-bisphosphatase, cardiac isozyme; MGC138308; MGC138310; PFK-2/FBPase-2; PFK/FBPase 2; PFKFB, cardiac
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
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
GRCh38.p13 Ensembl1207,034,366 - 207,081,024 (+)EnsemblGRCh38hg38GRCh38
GRCh381207,053,063 - 207,081,027 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371207,226,620 - 207,254,372 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361205,293,243 - 205,320,991 (+)NCBINCBI36hg18NCBI36
Build 341203,615,037 - 203,634,707NCBI
Celera1180,478,124 - 180,505,909 (+)NCBI
Cytogenetic Map1q32.1NCBI
HuRef1177,923,976 - 177,951,760 (+)NCBIHuRef
CHM1_11208,499,231 - 208,527,022 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (ISO)
cytosol  (IBA,TAS)
nucleoplasm  (IDA)

Molecular Function

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

Human Phenotype
References

Additional References at PubMed
PMID:1322130   PMID:1655632   PMID:2837207   PMID:7574501   PMID:7904197   PMID:8387495   PMID:9464277   PMID:9652401   PMID:10095107   PMID:11069105   PMID:11129574   PMID:11245921  
PMID:11374908   PMID:11522786   PMID:12065600   PMID:12477932   PMID:12853467   PMID:14702039   PMID:14744259   PMID:15161933   PMID:15324660   PMID:15489334   PMID:15896703   PMID:15925437  
PMID:16025159   PMID:16196087   PMID:16710414   PMID:17979178   PMID:18039179   PMID:19423540   PMID:20406964   PMID:20438785   PMID:20958264   PMID:21092265   PMID:21139048   PMID:21873635  
PMID:21963094   PMID:22241065   PMID:22939629   PMID:23000965   PMID:23457334   PMID:24255178   PMID:24568531   PMID:24634222   PMID:24816145   PMID:25266655   PMID:25662186   PMID:25798074  
PMID:26344197   PMID:26496610   PMID:26527279   PMID:26760575   PMID:27173435   PMID:27591049   PMID:27802586   PMID:28514442   PMID:29117863   PMID:29440170   PMID:29507755   PMID:29655792  
PMID:29987050   PMID:30745168   PMID:30819197   PMID:30884810   PMID:31122697   PMID:31343991   PMID:32415418  


Genomics

Comparative Map Data
PFKFB2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1207,034,366 - 207,081,024 (+)EnsemblGRCh38hg38GRCh38
GRCh381207,053,063 - 207,081,027 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371207,226,620 - 207,254,372 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361205,293,243 - 205,320,991 (+)NCBINCBI36hg18NCBI36
Build 341203,615,037 - 203,634,707NCBI
Celera1180,478,124 - 180,505,909 (+)NCBI
Cytogenetic Map1q32.1NCBI
HuRef1177,923,976 - 177,951,760 (+)NCBIHuRef
CHM1_11208,499,231 - 208,527,022 (+)NCBICHM1_1
Pfkfb2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391130,616,780 - 130,656,990 (-)NCBIGRCm39mm39
GRCm39 Ensembl1130,616,919 - 130,656,990 (-)Ensembl
GRCm39 Ensembl1130,597,946 - 130,643,536 (-)Ensembl
GRCm381130,689,043 - 130,729,253 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1130,689,182 - 130,729,253 (-)EnsemblGRCm38mm10GRCm38
GRCm38.p6 Ensembl1130,670,209 - 130,715,799 (-)EnsemblGRCm38mm10GRCm38
MGSCv371132,585,620 - 132,625,830 (-)NCBIGRCm37mm9NCBIm37
MGSCv361132,516,728 - 132,543,360 (-)NCBImm8
Celera1133,312,034 - 133,352,649 (-)NCBICelera
Cytogenetic Map1E4NCBI
Pfkfb2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21342,147,473 - 42,174,699 (-)NCBI
Rnor_6.0 Ensembl1347,413,458 - 47,440,682 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01347,413,453 - 47,440,682 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01352,502,121 - 52,529,346 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41343,624,838 - 43,652,660 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11343,641,369 - 43,666,703 (-)NCBI
Celera1342,498,231 - 42,525,453 (-)NCBICelera
Cytogenetic Map13q13NCBI
Pfkfb2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540642,574,450 - 42,598,109 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540642,573,210 - 42,601,994 (+)NCBIChiLan1.0ChiLan1.0
PFKFB2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11186,934,229 - 186,962,001 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1186,934,446 - 186,961,995 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01182,655,487 - 182,683,881 (+)NCBIMhudiblu_PPA_v0panPan3
PFKFB2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.176,193,519 - 6,220,034 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl76,196,656 - 6,218,397 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha75,756,664 - 5,783,300 (+)NCBI
ROS_Cfam_1.075,882,130 - 5,908,755 (+)NCBI
UMICH_Zoey_3.175,815,825 - 5,842,428 (+)NCBI
UNSW_CanFamBas_1.075,917,370 - 5,943,986 (+)NCBI
UU_Cfam_GSD_1.075,960,072 - 5,984,198 (+)NCBI
Pfkfb2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934468,319,391 - 68,344,685 (-)NCBI
SpeTri2.0NW_0049365575,559,993 - 5,584,912 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PFKFB2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl967,680,507 - 67,709,522 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1967,681,786 - 67,716,921 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2974,061,189 - 74,080,759 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PFKFB2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12522,277,692 - 22,306,057 (-)NCBI
ChlSab1.1 Ensembl2522,286,305 - 22,305,490 (-)Ensembl
Pfkfb2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248074,420,577 - 4,442,842 (-)NCBI

Position Markers
D1S2727  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371207,237,175 - 207,237,399UniSTSGRCh37
Build 361205,303,798 - 205,304,022RGDNCBI36
Celera1180,488,683 - 180,488,907RGD
Cytogenetic Map1q31UniSTS
HuRef1177,934,535 - 177,934,759UniSTS
Marshfield Genetic Map1222.84UniSTS
Marshfield Genetic Map1222.84RGD
Genethon Genetic Map1227.3UniSTS
TNG Radiation Hybrid Map1101996.0UniSTS
deCODE Assembly Map1209.64UniSTS
GeneMap99-GB4 RH Map1686.04UniSTS
NCBI RH Map11866.3UniSTS
SHGC-76262  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371207,250,542 - 207,250,699UniSTSGRCh37
Build 361205,317,165 - 205,317,322RGDNCBI36
Celera1180,502,083 - 180,502,240RGD
Cytogenetic Map1q31UniSTS
HuRef1177,947,934 - 177,948,091UniSTS
TNG Radiation Hybrid Map1101980.0UniSTS
GeneMap99-GB4 RH Map1683.93UniSTS
NCBI RH Map11849.1UniSTS
RH91908  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371207,250,978 - 207,251,133UniSTSGRCh37
Build 361205,317,601 - 205,317,756RGDNCBI36
Celera1180,502,519 - 180,502,674RGD
Cytogenetic Map1q31UniSTS
HuRef1177,948,370 - 177,948,525UniSTS
GeneMap99-GB4 RH Map1686.04UniSTS
RH92892  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371207,250,869 - 207,250,998UniSTSGRCh37
Build 361205,317,492 - 205,317,621RGDNCBI36
Celera1180,502,410 - 180,502,539RGD
Cytogenetic Map1q31UniSTS
HuRef1177,948,261 - 177,948,390UniSTS
GeneMap99-GB4 RH Map1686.04UniSTS
PFKFB2_8534  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371207,245,943 - 207,246,501UniSTSGRCh37
Build 361205,312,566 - 205,313,124RGDNCBI36
Celera1180,497,452 - 180,498,010RGD
HuRef1177,943,305 - 177,943,863UniSTS
D1S3705  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371207,241,379 - 207,241,524UniSTSGRCh37
Build 361205,308,002 - 205,308,147RGDNCBI36
Celera1180,492,887 - 180,493,032RGD
HuRef1177,938,739 - 177,938,884UniSTS
AL009762  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371207,226,072 - 207,226,164UniSTSGRCh37
Build 361205,292,695 - 205,292,787RGDNCBI36
Celera1180,477,576 - 180,477,668RGD
Cytogenetic Map1q31UniSTS
Cytogenetic Map1q32.2UniSTS
HuRef1177,923,428 - 177,923,520UniSTS
SHGC-76270  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371207,248,681 - 207,248,887UniSTSGRCh37
Build 361205,315,304 - 205,315,510RGDNCBI36
Celera1180,500,190 - 180,500,396RGD
Cytogenetic Map1q31UniSTS
HuRef1177,946,041 - 177,946,247UniSTS
TNG Radiation Hybrid Map1101980.0UniSTS
GeneMap99-GB4 RH Map1684.23UniSTS
NCBI RH Map11791.2UniSTS
AL009437  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371207,236,640 - 207,236,811UniSTSGRCh37
Build 361205,303,263 - 205,303,434RGDNCBI36
Celera1180,488,148 - 180,488,319RGD
Cytogenetic Map1q31UniSTS
HuRef1177,934,000 - 177,934,171UniSTS
G31466  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371207,250,823 - 207,250,939UniSTSGRCh37
Build 361205,317,446 - 205,317,562RGDNCBI36
Celera1180,502,364 - 180,502,480RGD
Cytogenetic Map1q31UniSTS
HuRef1177,948,215 - 177,948,331UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4316
Count of miRNA genes:1347
Interacting mature miRNAs:1770
Transcripts:ENST00000367079, ENST00000367080, ENST00000411990, ENST00000464777, ENST00000468857, ENST00000473310, ENST00000483688, ENST00000541914, ENST00000545806
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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 754 793 1020 52 866 35 1127 865 874 178 188 1254 31 8 947 1
Low 1684 2176 702 568 1038 426 3229 1313 2854 239 1271 358 144 1 1196 1841 6 1
Below cutoff 1 22 4 4 21 4 16 6 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001018053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB044805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC098935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC247050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF470623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ005577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ005578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL589672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX510096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU334168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000367079   ⟹   ENSP00000356046
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1207,053,311 - 207,081,024 (+)Ensembl
RefSeq Acc Id: ENST00000367080   ⟹   ENSP00000356047
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1207,053,275 - 207,077,817 (+)Ensembl
RefSeq Acc Id: ENST00000411990   ⟹   ENSP00000408717
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1207,034,416 - 207,079,134 (+)Ensembl
RefSeq Acc Id: ENST00000464777   ⟹   ENSP00000484769
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1207,053,275 - 207,063,167 (+)Ensembl
RefSeq Acc Id: ENST00000468857
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1207,053,283 - 207,054,955 (+)Ensembl
RefSeq Acc Id: ENST00000473310
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1207,069,424 - 207,079,675 (+)Ensembl
RefSeq Acc Id: ENST00000483688
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1207,070,645 - 207,075,565 (+)Ensembl
RefSeq Acc Id: ENST00000545806   ⟹   ENSP00000439420
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1207,034,366 - 207,063,209 (+)Ensembl
RefSeq Acc Id: ENST00000615360
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1207,034,416 - 207,049,635 (+)Ensembl
RefSeq Acc Id: ENST00000618513   ⟹   ENSP00000484988
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1207,034,416 - 207,062,014 (+)Ensembl
RefSeq Acc Id: NM_001018053   ⟹   NP_001018063
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381207,053,275 - 207,081,027 (+)NCBI
GRCh371207,207,761 - 207,254,368 (+)NCBI
Build 361205,293,243 - 205,320,991 (+)NCBI Archive
HuRef1177,923,976 - 177,951,760 (+)ENTREZGENE
CHM1_11208,499,231 - 208,527,022 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006212   ⟹   NP_006203
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381207,053,275 - 207,077,817 (+)NCBI
GRCh371207,207,761 - 207,254,368 (+)NCBI
Build 361205,293,243 - 205,317,785 (+)NCBI Archive
HuRef1177,923,976 - 177,951,760 (+)ENTREZGENE
CHM1_11208,499,231 - 208,523,815 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005273162   ⟹   XP_005273219
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381207,065,036 - 207,077,817 (+)NCBI
GRCh371207,207,761 - 207,254,368 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447654   ⟹   XP_024303422
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381207,053,118 - 207,077,817 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447655   ⟹   XP_024303423
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381207,054,169 - 207,077,817 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447656   ⟹   XP_024303424
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381207,058,743 - 207,077,817 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447657   ⟹   XP_024303425
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381207,053,063 - 207,080,967 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001018063 (Get FASTA)   NCBI Sequence Viewer  
  NP_006203 (Get FASTA)   NCBI Sequence Viewer  
  XP_005273219 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303422 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303423 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303424 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303425 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH69350 (Get FASTA)   NCBI Sequence Viewer  
  AAH69385 (Get FASTA)   NCBI Sequence Viewer  
  AAH69583 (Get FASTA)   NCBI Sequence Viewer  
  AAH69586 (Get FASTA)   NCBI Sequence Viewer  
  AAH69600 (Get FASTA)   NCBI Sequence Viewer  
  AAH75075 (Get FASTA)   NCBI Sequence Viewer  
  AAH75076 (Get FASTA)   NCBI Sequence Viewer  
  AAI12104 (Get FASTA)   NCBI Sequence Viewer  
  AAI12106 (Get FASTA)   NCBI Sequence Viewer  
  AAL99386 (Get FASTA)   NCBI Sequence Viewer  
  ABY59650 (Get FASTA)   NCBI Sequence Viewer  
  BAB19681 (Get FASTA)   NCBI Sequence Viewer  
  BAF85572 (Get FASTA)   NCBI Sequence Viewer  
  BAG58328 (Get FASTA)   NCBI Sequence Viewer  
  BAG63653 (Get FASTA)   NCBI Sequence Viewer  
  CAA06605 (Get FASTA)   NCBI Sequence Viewer  
  CAA06606 (Get FASTA)   NCBI Sequence Viewer  
  CAH18280 (Get FASTA)   NCBI Sequence Viewer  
  EAW93507 (Get FASTA)   NCBI Sequence Viewer  
  EAW93508 (Get FASTA)   NCBI Sequence Viewer  
  O60825 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001018063   ⟸   NM_001018053
- Peptide Label: isoform b
- UniProtKB: O60825 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_006203   ⟸   NM_006212
- Peptide Label: isoform a
- UniProtKB: O60825 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005273219   ⟸   XM_005273162
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_024303425   ⟸   XM_024447657
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024303422   ⟸   XM_024447654
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024303423   ⟸   XM_024447655
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024303424   ⟸   XM_024447656
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000484769   ⟸   ENST00000464777
RefSeq Acc Id: ENSP00000408717   ⟸   ENST00000411990
RefSeq Acc Id: ENSP00000439420   ⟸   ENST00000545806
RefSeq Acc Id: ENSP00000356047   ⟸   ENST00000367080
RefSeq Acc Id: ENSP00000356046   ⟸   ENST00000367079
RefSeq Acc Id: ENSP00000484988   ⟸   ENST00000618513
Protein Domains
6PF2K

Promoters
RGD ID:6786231
Promoter ID:HG_KWN:7108
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
Transcripts:ENST00000367084,   OTTHUMT00000087838,   OTTHUMT00000087839,   OTTHUMT00000087840,   OTTHUMT00000087841
Position:
Human AssemblyChrPosition (strand)Source
Build 361205,292,391 - 205,293,527 (+)MPROMDB
RGD ID:6786226
Promoter ID:HG_KWN:7109
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC009XCC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361205,294,401 - 205,294,901 (+)MPROMDB
RGD ID:6858824
Promoter ID:EPDNEW_H2577
Type:initiation region
Name:PFKFB2_1
Description:6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381207,053,275 - 207,053,335EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11
pathogenic
GRCh38/hg38 1q32.1-32.2(chr1:204990129-210220258)x3 copy number gain See cases [RCV000051859] Chr1:204990129..210220258 [GRCh38]
Chr1:204959257..210572305 [GRCh37]
Chr1:203225880..208638928 [NCBI36]
Chr1:1q32.1-32.2
pathogenic
NM_001018053.1(PFKFB2):c.633-901C>T single nucleotide variant Lung cancer [RCV000090385] Chr1:207066598 [GRCh38]
Chr1:207239943 [GRCh37]
Chr1:1q32.1
uncertain significance
GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3 copy number gain See cases [RCV000142054] Chr1:204764914..225408698 [GRCh38]
Chr1:204734042..225596400 [GRCh37]
Chr1:203000665..223663023 [NCBI36]
Chr1:1q32.1-42.12
pathogenic
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13
pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44
pathogenic
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 1q32.1-32.2(chr1:206961307-207252090)x1 copy number loss See cases [RCV000510174] Chr1:206961307..207252090 [GRCh37]
Chr1:1q32.1-32.2
likely benign
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 1q32.1-32.3(chr1:204682513-212815646) copy number loss Global developmental delay [RCV000626524] Chr1:204682513..212815646 [GRCh37]
Chr1:1q32.1-32.3
pathogenic
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
NC_000001.11:g.(?_204033173)_(208209798_?)del deletion Autistic disorder of childhood onset [RCV000754138] Chr1:204033173..208209798 [GRCh38]
Chr1:1q32.1-32.2
likely pathogenic
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 copy number gain not provided [RCV000749265] Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41
pathogenic
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3 copy number gain not provided [RCV000848713] Chr1:206329070..213263817 [GRCh37]
Chr1:1q32.1-32.3
uncertain significance
GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3 copy number gain not provided [RCV001249273] Chr1:194356425..210988710 [GRCh37]
Chr1:1q31.3-32.2
not provided
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44
pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8873 AgrOrtholog
COSMIC PFKFB2 COSMIC
Ensembl Genes ENSG00000123836 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000356046 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000356047 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000408717 UniProtKB/TrEMBL
  ENSP00000439420 UniProtKB/TrEMBL
  ENSP00000484769 UniProtKB/TrEMBL
  ENSP00000484988 UniProtKB/TrEMBL
Ensembl Transcript ENST00000367079 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000367080 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000411990 UniProtKB/TrEMBL
  ENST00000464777 UniProtKB/TrEMBL
  ENST00000545806 UniProtKB/TrEMBL
  ENST00000618513 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.1240 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000123836 GTEx
HGNC ID HGNC:8873 ENTREZGENE
Human Proteome Map PFKFB2 Human Proteome Map
InterPro 6Pfruct_kin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6Phosfructo_kin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  His_Pase_superF_clade-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  His_PPase_superfam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PG/BPGM_mutase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5208 UniProtKB/Swiss-Prot
NCBI Gene 5208 ENTREZGENE
OMIM 171835 OMIM
PANTHER PTHR10606 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 6PF2K UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  His_Phos_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33212 PharmGKB
PRINTS 6PFRUCTKNASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PG_MUTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PGAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF53254 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087X278_HUMAN UniProtKB/TrEMBL
  A0A087X2H4_HUMAN UniProtKB/TrEMBL
  B0FLL2_HUMAN UniProtKB/TrEMBL
  F262_HUMAN UniProtKB/Swiss-Prot
  F6RAZ1_HUMAN UniProtKB/TrEMBL
  F6XNB3_HUMAN UniProtKB/TrEMBL
  O60825 ENTREZGENE
UniProt Secondary O60824 UniProtKB/Swiss-Prot
  Q5VVQ3 UniProtKB/Swiss-Prot
  Q5VVQ4 UniProtKB/Swiss-Prot
  Q9H3P1 UniProtKB/Swiss-Prot