PFKFB4 (6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4) - Rat Genome Database

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Gene: PFKFB4 (6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4) Homo sapiens
Analyze
Symbol: PFKFB4
Name: 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4
RGD ID: 1344643
HGNC Page HGNC:8875
Description: Predicted to enable 6-phosphofructo-2-kinase activity and fructose-2,6-bisphosphate 2-phosphatase activity. Predicted to be involved in fructose 2,6-bisphosphate metabolic process. Predicted to be active in cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase-4; 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4; 6PF-2-K/Fru-2,6-P2ase 4; 6PF-2-K/Fru-2,6-P2ase testis-type isozyme; bifunctional enzyme with kinase and biphosphatase activities; PFK/FBPase 4
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
GRCh38348,517,684 - 48,563,136 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl348,517,684 - 48,562,015 (-)EnsemblGRCh38hg38GRCh38
GRCh37348,555,117 - 48,598,562 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36348,530,121 - 48,569,231 (-)NCBINCBI36Build 36hg18NCBI36
Build 34348,530,122 - 48,569,231NCBI
Celera348,510,977 - 48,550,079 (-)NCBICelera
Cytogenetic Map3p21.31NCBI
HuRef348,613,565 - 48,652,666 (-)NCBIHuRef
CHM1_1348,507,387 - 48,546,534 (-)NCBICHM1_1
T2T-CHM13v2.0348,546,648 - 48,592,093 (-)NCBIT2T-CHM13v2.0
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
(-)-demecolcine  (EXP)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP,ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-methylcholine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
aspartame  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
butan-1-ol  (EXP)
cadmium dichloride  (EXP)
carbamazepine  (EXP)
chloroacetaldehyde  (EXP)
chloropicrin  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
cidofovir anhydrous  (EXP)
cisplatin  (EXP)
clodronic acid  (EXP)
cobalt atom  (EXP)
cobalt dichloride  (EXP)
curcumin  (EXP)
cyclosporin A  (EXP)
deguelin  (EXP)
desferrioxamine B  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dichlorine  (ISO)
dioxygen  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
ethanol  (EXP)
ethyl methanesulfonate  (EXP)
folic acid  (EXP,ISO)
formaldehyde  (EXP)
genistein  (ISO)
gentamycin  (ISO)
hydralazine  (EXP)
iron atom  (EXP)
iron(0)  (EXP)
isobutanol  (EXP)
L-methionine  (ISO)
lipopolysaccharide  (EXP)
maneb  (ISO)
methapyrilene  (EXP)
methyl methanesulfonate  (EXP)
monosodium L-glutamate  (ISO)
motexafin gadolinium  (EXP)
nickel dichloride  (EXP)
Nonylphenol  (ISO)
oxaliplatin  (EXP)
ozone  (EXP,ISO)
paracetamol  (ISO)
paraquat  (ISO)
quercetin  (EXP)
rotenone  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
sodium arsenate  (EXP)
sotorasib  (EXP)
sunitinib  (EXP)
testosterone  (ISO)
thapsigargin  (EXP)
thimerosal  (EXP)
trametinib  (EXP)
tributylstannane  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triptonide  (ISO)
Tungsten carbide  (EXP)
tunicamycin  (EXP)
uranium atom  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vincristine  (EXP)
vorinostat  (EXP)
zinc acetate  (EXP)
zinc dichloride  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (IBA,IEA,TAS)

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. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase: head-to-head with a bifunctional enzyme that controls glycolysis. Rider MH, etal., Biochem J. 2004 Aug 1;381(Pt 3):561-79.
Additional References at PubMed
PMID:2837207   PMID:7574501   PMID:8830046   PMID:9464277   PMID:10095107   PMID:12477932   PMID:15474002   PMID:15489334   PMID:15642344   PMID:15896703   PMID:15925437   PMID:16311927  
PMID:16344560   PMID:17143338   PMID:21396842   PMID:21461837   PMID:21640852   PMID:21873635   PMID:21900206   PMID:22056879   PMID:22576210   PMID:22658674   PMID:22811469   PMID:22892400  
PMID:23128233   PMID:25082827   PMID:25115398   PMID:25772235   PMID:25974097   PMID:26221874   PMID:27181362   PMID:27491149   PMID:27614159   PMID:27769068   PMID:28092678   PMID:28152500  
PMID:28319085   PMID:28514442   PMID:28611215   PMID:29208667   PMID:29615789   PMID:30415245   PMID:30504385   PMID:30613295   PMID:30819197   PMID:31343991   PMID:32296183   PMID:32299611  
PMID:33593309   PMID:33961781   PMID:34211613   PMID:34348486   PMID:34445551   PMID:34591612   PMID:34593007   PMID:35256949   PMID:35271311   PMID:35659173   PMID:35813480   PMID:35914811  
PMID:35926796   PMID:35944360   PMID:36109523   PMID:36115843   PMID:36215168   PMID:36806581   PMID:36963434   PMID:37500615   PMID:37707291  


Genomics

Comparative Map Data
PFKFB4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38348,517,684 - 48,563,136 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl348,517,684 - 48,562,015 (-)EnsemblGRCh38hg38GRCh38
GRCh37348,555,117 - 48,598,562 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36348,530,121 - 48,569,231 (-)NCBINCBI36Build 36hg18NCBI36
Build 34348,530,122 - 48,569,231NCBI
Celera348,510,977 - 48,550,079 (-)NCBICelera
Cytogenetic Map3p21.31NCBI
HuRef348,613,565 - 48,652,666 (-)NCBIHuRef
CHM1_1348,507,387 - 48,546,534 (-)NCBICHM1_1
T2T-CHM13v2.0348,546,648 - 48,592,093 (-)NCBIT2T-CHM13v2.0
Pfkfb4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm399108,817,336 - 108,861,302 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl9108,820,846 - 108,861,296 (+)EnsemblGRCm39 Ensembl
GRCm389108,988,272 - 109,032,236 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl9108,991,778 - 109,032,228 (+)EnsemblGRCm38mm10GRCm38
MGSCv379108,893,947 - 108,934,739 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv369108,848,901 - 108,889,603 (+)NCBIMGSCv36mm8
Celera9108,549,891 - 108,591,002 (+)NCBICelera
Cytogenetic Map9F2NCBI
cM Map959.63NCBI
Pfkfb4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr88118,522,371 - 118,565,478 (+)NCBIGRCr8
mRatBN7.28109,643,558 - 109,687,006 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl8109,643,937 - 109,685,634 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx8115,262,543 - 115,300,538 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.08113,461,728 - 113,499,717 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.08111,304,523 - 111,342,518 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.08117,733,347 - 117,776,525 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl8117,737,117 - 117,775,386 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.08117,085,098 - 117,128,270 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.48114,012,543 - 114,050,534 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.18114,031,997 - 114,069,989 (+)NCBI
Celera8108,939,193 - 108,977,086 (+)NCBICelera
Cytogenetic Map8q32NCBI
Pfkfb4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955532606,643 - 644,027 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955532606,597 - 644,238 (-)NCBIChiLan1.0ChiLan1.0
PFKFB4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2248,491,191 - 48,533,286 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1348,497,153 - 48,538,038 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0348,439,542 - 48,479,501 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1349,521,541 - 49,560,744 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl349,521,550 - 49,560,711 (-)Ensemblpanpan1.1panPan2
PFKFB4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12040,556,548 - 40,587,036 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2040,556,790 - 40,585,652 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2040,470,623 - 40,504,538 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02041,038,756 - 41,072,657 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2041,038,813 - 41,072,655 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12040,276,197 - 40,310,107 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02040,680,959 - 40,715,122 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02040,961,893 - 40,995,823 (+)NCBIUU_Cfam_GSD_1.0
Pfkfb4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560263,543,590 - 63,585,774 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936529303,843 - 342,935 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936529304,090 - 346,281 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PFKFB4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1331,212,552 - 31,259,749 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11331,212,553 - 31,259,785 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21334,457,005 - 34,504,235 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PFKFB4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1229,920,252 - 9,962,243 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl229,919,764 - 9,957,543 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041157,123,631 - 157,165,404 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pfkfb4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247302,519,678 - 2,563,059 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247302,519,661 - 2,566,664 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PFKFB4
27 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4 copy number gain See cases [RCV000133650] Chr3:45879883..50749922 [GRCh38]
Chr3:45921375..50787353 [GRCh37]
Chr3:45896379..50762357 [NCBI36]
Chr3:3p21.31-21.2
pathogenic
GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3 copy number gain See cases [RCV000240519] Chr3:37028313..49929220 [GRCh37]
Chr3:3p22.2-21.31
likely pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_004567.4(PFKFB4):c.800G>A (p.Arg267Gln) single nucleotide variant Inborn genetic diseases [RCV003248487] Chr3:48536296 [GRCh38]
Chr3:48573729 [GRCh37]
Chr3:3p21.31
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p21.31(chr3:48505831-48641197)x1 copy number loss not provided [RCV000742395] Chr3:48505831..48641197 [GRCh37]
Chr3:3p21.31
benign
GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616) copy number gain not provided [RCV000767704] Chr3:45153770..53878616 [GRCh37]
Chr3:3p21.31-21.1
pathogenic
NM_004567.4(PFKFB4):c.767G>A (p.Arg256Gln) single nucleotide variant Inborn genetic diseases [RCV003268358] Chr3:48536329 [GRCh38]
Chr3:48573762 [GRCh37]
Chr3:3p21.31
uncertain significance
GRCh37/hg19 3p21.31(chr3:48346677-49630228)x1 copy number loss not provided [RCV001005432] Chr3:48346677..49630228 [GRCh37]
Chr3:3p21.31
pathogenic
NC_000003.11:g.(?_48507870)_(50340407_?)del deletion Aicardi-Goutieres syndrome 1 [RCV001380369] Chr3:48507870..50340407 [GRCh37]
Chr3:3p21.31
pathogenic
GRCh38/hg38 3p21.31(chr3:48562955-48587488)x1 copy number loss Ductal breast carcinoma [RCV000207318] Chr3:48562955..48587488 [GRCh38]
Chr3:48600388..48624921 [GRCh37]
Chr3:3p21.31
uncertain significance
NC_000003.11:g.(?_45435946)_(49137751_?)dup duplication Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003116297] Chr3:45435946..49137751 [GRCh37]
Chr3:3p21.31
uncertain significance
GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1 copy number loss not provided [RCV002279744] Chr3:44948482..49115809 [GRCh37]
Chr3:3p21.31
pathogenic
NM_004567.4(PFKFB4):c.1210G>C (p.Asp404His) single nucleotide variant Inborn genetic diseases [RCV002858798] Chr3:48523713 [GRCh38]
Chr3:48561146 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_004567.4(PFKFB4):c.221A>G (p.Asn74Ser) single nucleotide variant Inborn genetic diseases [RCV002858806] Chr3:48549954 [GRCh38]
Chr3:48587387 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_004567.4(PFKFB4):c.1112A>C (p.Gln371Pro) single nucleotide variant Inborn genetic diseases [RCV002841137] Chr3:48523811 [GRCh38]
Chr3:48561244 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033199.4(UCN2):c.311G>A (p.Arg104His) single nucleotide variant Inborn genetic diseases [RCV002841578] Chr3:48562814 [GRCh38]
Chr3:48600247 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_004567.4(PFKFB4):c.739G>A (p.Val247Met) single nucleotide variant Inborn genetic diseases [RCV002883851] Chr3:48536357 [GRCh38]
Chr3:48573790 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_004567.4(PFKFB4):c.934G>A (p.Glu312Lys) single nucleotide variant Inborn genetic diseases [RCV002861177] Chr3:48535565 [GRCh38]
Chr3:48572998 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_004567.4(PFKFB4):c.592T>C (p.Tyr198His) single nucleotide variant Inborn genetic diseases [RCV002660300] Chr3:48538538 [GRCh38]
Chr3:48575971 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_004567.4(PFKFB4):c.77T>C (p.Leu26Pro) single nucleotide variant Inborn genetic diseases [RCV002645063] Chr3:48556701 [GRCh38]
Chr3:48594134 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_004567.4(PFKFB4):c.895G>A (p.Val299Ile) single nucleotide variant Inborn genetic diseases [RCV002698645] Chr3:48535604 [GRCh38]
Chr3:48573037 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033199.4(UCN2):c.214A>C (p.Ile72Leu) single nucleotide variant Inborn genetic diseases [RCV002812621] Chr3:48562911 [GRCh38]
Chr3:48600344 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033199.4(UCN2):c.196C>T (p.Arg66Cys) single nucleotide variant Inborn genetic diseases [RCV002717596] Chr3:48562929 [GRCh38]
Chr3:48600362 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_004567.4(PFKFB4):c.211C>T (p.Arg71Trp) single nucleotide variant Inborn genetic diseases [RCV002746810] Chr3:48550121 [GRCh38]
Chr3:48587554 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033199.4(UCN2):c.91C>T (p.Arg31Cys) single nucleotide variant Inborn genetic diseases [RCV002668473] Chr3:48563034 [GRCh38]
Chr3:48600467 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_004567.4(PFKFB4):c.1336C>T (p.Arg446Trp) single nucleotide variant Inborn genetic diseases [RCV003192769] Chr3:48522000 [GRCh38]
Chr3:48559433 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_004567.4(PFKFB4):c.346C>T (p.Arg116Trp) single nucleotide variant Inborn genetic diseases [RCV003208887] Chr3:48543612 [GRCh38]
Chr3:48581045 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033199.4(UCN2):c.212G>A (p.Arg71His) single nucleotide variant Inborn genetic diseases [RCV003189372] Chr3:48562913 [GRCh38]
Chr3:48600346 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_004567.4(PFKFB4):c.652A>C (p.Ile218Leu) single nucleotide variant Inborn genetic diseases [RCV003214833] Chr3:48536444 [GRCh38]
Chr3:48573877 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_004567.4(PFKFB4):c.583A>G (p.Ile195Val) single nucleotide variant Inborn genetic diseases [RCV003173190] Chr3:48538547 [GRCh38]
Chr3:48575980 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033199.4(UCN2):c.306C>A (p.Asn102Lys) single nucleotide variant Inborn genetic diseases [RCV003173877] Chr3:48562819 [GRCh38]
Chr3:48600252 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_004567.4(PFKFB4):c.220A>C (p.Asn74His) single nucleotide variant Inborn genetic diseases [RCV003359544] Chr3:48549955 [GRCh38]
Chr3:48587388 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_004567.4(PFKFB4):c.209C>T (p.Thr70Ile) single nucleotide variant Inborn genetic diseases [RCV003376392] Chr3:48550123 [GRCh38]
Chr3:48587556 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_004567.4(PFKFB4):c.1388T>A (p.Val463Asp) single nucleotide variant Inborn genetic diseases [RCV003386193] Chr3:48519769 [GRCh38]
Chr3:48557202 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_004567.4(PFKFB4):c.943G>C (p.Gly315Arg) single nucleotide variant Inborn genetic diseases [RCV003363502] Chr3:48535556 [GRCh38]
Chr3:48572989 [GRCh37]
Chr3:3p21.31
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7283
Count of miRNA genes:1292
Interacting mature miRNAs:1716
Transcripts:ENST00000232375, ENST00000383734, ENST00000412035, ENST00000416568, ENST00000417753, ENST00000422701, ENST00000445633, ENST00000452531, ENST00000467176, ENST00000468162, ENST00000471890, ENST00000478516, ENST00000490115, ENST00000490404, ENST00000496767, ENST00000536104, ENST00000541519, ENST00000545984
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
RH94072  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37348,555,180 - 48,555,336UniSTSGRCh37
Build 36348,530,184 - 48,530,340RGDNCBI36
Celera348,511,040 - 48,511,196RGD
Cytogenetic Map3p22-p21UniSTS
HuRef348,613,628 - 48,613,784UniSTS
GeneMap99-GB4 RH Map3156.77UniSTS
RH80762  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37348,556,966 - 48,557,174UniSTSGRCh37
Build 36348,531,970 - 48,532,178RGDNCBI36
Celera348,512,826 - 48,513,034RGD
Cytogenetic Map3p22-p21UniSTS
HuRef348,615,414 - 48,615,622UniSTS
GeneMap99-GB4 RH Map3155.47UniSTS
D3S2863E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37348,555,197 - 48,555,281UniSTSGRCh37
Build 36348,530,201 - 48,530,285RGDNCBI36
Celera348,511,057 - 48,511,141RGD
Cytogenetic Map3p22-p21UniSTS
HuRef348,613,645 - 48,613,729UniSTS
PFKFB4_8536  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37348,555,097 - 48,555,908UniSTSGRCh37
Build 36348,530,101 - 48,530,912RGDNCBI36
Celera348,510,957 - 48,511,768RGD
HuRef348,613,545 - 48,614,356UniSTS


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 131 694 48 18 1338 15 220 26 196 106 558 148 8 15 33 4
Low 2275 1874 1505 439 586 284 3811 1549 3509 302 891 1458 163 1150 2454
Below cutoff 27 418 170 164 24 164 324 618 10 10 3 2 39 301

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001317134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001317135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001317136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001317137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001317138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC134772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF108765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY707863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY714243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY734234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY756062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY756063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY756064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY786551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D49818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB069657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC423860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB342977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB711100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI574332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000232375   ⟹   ENSP00000232375
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl348,517,684 - 48,556,803 (-)Ensembl
RefSeq Acc Id: ENST00000383734   ⟹   ENSP00000373240
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl348,519,674 - 48,556,890 (-)Ensembl
RefSeq Acc Id: ENST00000412035   ⟹   ENSP00000393047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl348,538,501 - 48,557,017 (-)Ensembl
RefSeq Acc Id: ENST00000416568   ⟹   ENSP00000388394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl348,519,674 - 48,556,890 (-)Ensembl
RefSeq Acc Id: ENST00000417753   ⟹   ENSP00000389169
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl348,519,674 - 48,556,890 (-)Ensembl
RefSeq Acc Id: ENST00000422701   ⟹   ENSP00000415764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl348,543,580 - 48,559,854 (-)Ensembl
RefSeq Acc Id: ENST00000445633   ⟹   ENSP00000400772
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl348,519,674 - 48,556,890 (-)Ensembl
RefSeq Acc Id: ENST00000452531   ⟹   ENSP00000407657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl348,535,512 - 48,561,172 (-)Ensembl
RefSeq Acc Id: ENST00000467176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl348,549,864 - 48,562,015 (-)Ensembl
RefSeq Acc Id: ENST00000468162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl348,536,445 - 48,549,895 (-)Ensembl
RefSeq Acc Id: ENST00000471890
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl348,539,411 - 48,550,145 (-)Ensembl
RefSeq Acc Id: ENST00000478516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl348,523,760 - 48,526,072 (-)Ensembl
RefSeq Acc Id: ENST00000490115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl348,519,674 - 48,556,923 (-)Ensembl
RefSeq Acc Id: ENST00000490404
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl348,547,879 - 48,550,235 (-)Ensembl
RefSeq Acc Id: ENST00000496767
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl348,539,697 - 48,561,972 (-)Ensembl
RefSeq Acc Id: NM_001317134   ⟹   NP_001304063
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38348,517,684 - 48,556,803 (-)NCBI
CHM1_1348,507,387 - 48,546,663 (-)NCBI
T2T-CHM13v2.0348,546,648 - 48,585,766 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001317135   ⟹   NP_001304064
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38348,517,684 - 48,556,803 (-)NCBI
CHM1_1348,507,387 - 48,546,663 (-)NCBI
T2T-CHM13v2.0348,546,648 - 48,585,766 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001317136   ⟹   NP_001304065
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38348,517,684 - 48,561,129 (-)NCBI
CHM1_1348,507,387 - 48,550,920 (-)NCBI
T2T-CHM13v2.0348,546,648 - 48,590,086 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001317137   ⟹   NP_001304066
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38348,517,684 - 48,556,803 (-)NCBI
CHM1_1348,507,387 - 48,546,663 (-)NCBI
T2T-CHM13v2.0348,546,648 - 48,585,766 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001317138   ⟹   NP_001304067
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38348,517,684 - 48,556,803 (-)NCBI
CHM1_1348,507,387 - 48,546,663 (-)NCBI
T2T-CHM13v2.0348,546,648 - 48,585,766 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004567   ⟹   NP_004558
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38348,517,684 - 48,556,803 (-)NCBI
GRCh37348,555,117 - 48,598,607 (-)NCBI
Build 36348,530,121 - 48,569,231 (-)NCBI Archive
Celera348,510,977 - 48,550,079 (-)RGD
HuRef348,613,565 - 48,652,666 (-)ENTREZGENE
CHM1_1348,507,387 - 48,546,663 (-)NCBI
T2T-CHM13v2.0348,546,648 - 48,585,766 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011533829   ⟹   XP_011532131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38348,517,684 - 48,563,136 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017006614   ⟹   XP_016862103
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38348,517,684 - 48,556,803 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017006615   ⟹   XP_016862104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38348,517,684 - 48,556,803 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017006616   ⟹   XP_016862105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38348,517,684 - 48,557,091 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017006617   ⟹   XP_016862106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38348,517,684 - 48,561,129 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024453595   ⟹   XP_024309363
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38348,517,684 - 48,554,009 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047448300   ⟹   XP_047304256
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38348,517,684 - 48,556,803 (-)NCBI
RefSeq Acc Id: XM_047448301   ⟹   XP_047304257
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38348,517,684 - 48,557,100 (-)NCBI
RefSeq Acc Id: XM_047448302   ⟹   XP_047304258
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38348,517,684 - 48,557,034 (-)NCBI
RefSeq Acc Id: XM_047448303   ⟹   XP_047304259
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38348,517,684 - 48,554,943 (-)NCBI
RefSeq Acc Id: XM_047448304   ⟹   XP_047304260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38348,517,684 - 48,561,129 (-)NCBI
RefSeq Acc Id: XM_054346827   ⟹   XP_054202802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0348,546,648 - 48,585,766 (-)NCBI
RefSeq Acc Id: XM_054346828   ⟹   XP_054202803
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0348,546,648 - 48,592,093 (-)NCBI
RefSeq Acc Id: XM_054346829   ⟹   XP_054202804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0348,546,648 - 48,585,766 (-)NCBI
RefSeq Acc Id: XM_054346830   ⟹   XP_054202805
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0348,546,648 - 48,585,766 (-)NCBI
RefSeq Acc Id: XM_054346831   ⟹   XP_054202806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0348,546,648 - 48,586,054 (-)NCBI
RefSeq Acc Id: XM_054346832   ⟹   XP_054202807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0348,546,648 - 48,590,086 (-)NCBI
RefSeq Acc Id: XM_054346833   ⟹   XP_054202808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0348,546,648 - 48,586,063 (-)NCBI
RefSeq Acc Id: XM_054346834   ⟹   XP_054202809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0348,546,648 - 48,585,997 (-)NCBI
RefSeq Acc Id: XM_054346835   ⟹   XP_054202810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0348,546,648 - 48,583,789 (-)NCBI
RefSeq Acc Id: XM_054346836   ⟹   XP_054202811
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0348,546,648 - 48,583,907 (-)NCBI
RefSeq Acc Id: XM_054346837   ⟹   XP_054202812
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0348,546,648 - 48,590,086 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001304063 (Get FASTA)   NCBI Sequence Viewer  
  NP_001304064 (Get FASTA)   NCBI Sequence Viewer  
  NP_001304065 (Get FASTA)   NCBI Sequence Viewer  
  NP_001304066 (Get FASTA)   NCBI Sequence Viewer  
  NP_001304067 (Get FASTA)   NCBI Sequence Viewer  
  NP_004558 (Get FASTA)   NCBI Sequence Viewer  
  XP_011532131 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862103 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862104 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862105 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862106 (Get FASTA)   NCBI Sequence Viewer  
  XP_024309363 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304256 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304257 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304258 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304259 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304260 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202802 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202803 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202804 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202805 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202806 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202807 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202808 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202809 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202810 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202811 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202812 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD09427 (Get FASTA)   NCBI Sequence Viewer  
  AAH10269 (Get FASTA)   NCBI Sequence Viewer  
  AAU11326 (Get FASTA)   NCBI Sequence Viewer  
  AAU14998 (Get FASTA)   NCBI Sequence Viewer  
  AAU36607 (Get FASTA)   NCBI Sequence Viewer  
  AAV28717 (Get FASTA)   NCBI Sequence Viewer  
  AAV28718 (Get FASTA)   NCBI Sequence Viewer  
  AAV28719 (Get FASTA)   NCBI Sequence Viewer  
  AAV65753 (Get FASTA)   NCBI Sequence Viewer  
  BAA18921 (Get FASTA)   NCBI Sequence Viewer  
  BAG35509 (Get FASTA)   NCBI Sequence Viewer  
  BAH12859 (Get FASTA)   NCBI Sequence Viewer  
  BAH12949 (Get FASTA)   NCBI Sequence Viewer  
  CAR81489 (Get FASTA)   NCBI Sequence Viewer  
  CAS91505 (Get FASTA)   NCBI Sequence Viewer  
  CBX47655 (Get FASTA)   NCBI Sequence Viewer  
  EAW64890 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000232375
  ENSP00000232375.3
  ENSP00000373240
  ENSP00000373240.2
  ENSP00000388394
  ENSP00000388394.1
  ENSP00000389169.1
  ENSP00000393047.1
  ENSP00000400772.1
  ENSP00000407657.1
  ENSP00000415764.1
GenBank Protein Q16877 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_004558   ⟸   NM_004567
- Peptide Label: isoform b
- UniProtKB: Q5XLC2 (UniProtKB/Swiss-Prot),   Q5S3G5 (UniProtKB/Swiss-Prot),   Q64EX5 (UniProtKB/Swiss-Prot),   Q16877 (UniProtKB/Swiss-Prot),   B2R6L2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011532131   ⟸   XM_011533829
- Peptide Label: isoform X2
- UniProtKB: B2R6L2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001304065   ⟸   NM_001317136
- Peptide Label: isoform d
- UniProtKB: B7Z5C3 (UniProtKB/TrEMBL),   B2R6L2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001304064   ⟸   NM_001317135
- Peptide Label: isoform c
- UniProtKB: Q66S35 (UniProtKB/TrEMBL),   B2R6L2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001304066   ⟸   NM_001317137
- Peptide Label: isoform e
- UniProtKB: B2R6L2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001304067   ⟸   NM_001317138
- Peptide Label: isoform f
- UniProtKB: Q5XLC3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001304063   ⟸   NM_001317134
- Peptide Label: isoform a
- UniProtKB: B2R6L2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016862106   ⟸   XM_017006617
- Peptide Label: isoform X6
- UniProtKB: B2R6L2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016862105   ⟸   XM_017006616
- Peptide Label: isoform X5
- UniProtKB: B2R6L2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016862104   ⟸   XM_017006615
- Peptide Label: isoform X4
- UniProtKB: B2R6L2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016862103   ⟸   XM_017006614
- Peptide Label: isoform X1
- UniProtKB: B2R6L2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024309363   ⟸   XM_024453595
- Peptide Label: isoform X8
- UniProtKB: B2R6L2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000393047   ⟸   ENST00000412035
RefSeq Acc Id: ENSP00000407657   ⟸   ENST00000452531
RefSeq Acc Id: ENSP00000388394   ⟸   ENST00000416568
RefSeq Acc Id: ENSP00000232375   ⟸   ENST00000232375
RefSeq Acc Id: ENSP00000389169   ⟸   ENST00000417753
RefSeq Acc Id: ENSP00000400772   ⟸   ENST00000445633
RefSeq Acc Id: ENSP00000415764   ⟸   ENST00000422701
RefSeq Acc Id: ENSP00000373240   ⟸   ENST00000383734
RefSeq Acc Id: XP_047304260   ⟸   XM_047448304
- Peptide Label: isoform X9
- UniProtKB: B2R6L2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047304257   ⟸   XM_047448301
- Peptide Label: isoform X7
- UniProtKB: B2R6L2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047304258   ⟸   XM_047448302
- Peptide Label: isoform X8
- UniProtKB: B2R6L2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047304256   ⟸   XM_047448300
- Peptide Label: isoform X3
- UniProtKB: B2R6L2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047304259   ⟸   XM_047448303
- Peptide Label: isoform X8
- UniProtKB: B2R6L2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054202803   ⟸   XM_054346828
- Peptide Label: isoform X2
- UniProtKB: B2R6L2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054202812   ⟸   XM_054346837
- Peptide Label: isoform X9
- UniProtKB: B2R6L2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054202807   ⟸   XM_054346832
- Peptide Label: isoform X6
- UniProtKB: B2R6L2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054202808   ⟸   XM_054346833
- Peptide Label: isoform X7
- UniProtKB: B2R6L2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054202806   ⟸   XM_054346831
- Peptide Label: isoform X5
- UniProtKB: B2R6L2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054202809   ⟸   XM_054346834
- Peptide Label: isoform X8
- UniProtKB: B2R6L2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054202804   ⟸   XM_054346829
- Peptide Label: isoform X3
- UniProtKB: B2R6L2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054202805   ⟸   XM_054346830
- Peptide Label: isoform X4
- UniProtKB: B2R6L2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054202802   ⟸   XM_054346827
- Peptide Label: isoform X1
- UniProtKB: B2R6L2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054202811   ⟸   XM_054346836
- Peptide Label: isoform X8
- UniProtKB: B2R6L2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054202810   ⟸   XM_054346835
- Peptide Label: isoform X8
- UniProtKB: B2R6L2 (UniProtKB/TrEMBL)
Protein Domains
6-phosphofructo-2-kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q16877-F1-model_v2 AlphaFold Q16877 1-469 view protein structure

Promoters
RGD ID:6864310
Promoter ID:EPDNEW_H5320
Type:initiation region
Name:PFKFB4_1
Description:6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4
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
GRCh38348,556,803 - 48,556,863EPDNEW
RGD ID:6801408
Promoter ID:HG_KWN:44913
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:OTTHUMT00000257503,   OTTHUMT00000344755,   OTTHUMT00000344790,   OTTHUMT00000344791,   UC003CTW.1,   UC003CTX.1,   UC010HKB.1,   UC010HKC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36348,569,156 - 48,569,752 (-)MPROMDB
RGD ID:6801406
Promoter ID:HG_KWN:44915
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   NB4
Transcripts:OTTHUMT00000344789,   OTTHUMT00000344792,   OTTHUMT00000344795
Position:
Human AssemblyChrPosition (strand)Source
Build 36348,573,556 - 48,574,892 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8875 AgrOrtholog
COSMIC PFKFB4 COSMIC
Ensembl Genes ENSG00000114268 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000232375 ENTREZGENE
  ENST00000232375.8 UniProtKB/Swiss-Prot
  ENST00000383734 ENTREZGENE
  ENST00000383734.6 UniProtKB/Swiss-Prot
  ENST00000412035.5 UniProtKB/TrEMBL
  ENST00000416568 ENTREZGENE
  ENST00000416568.5 UniProtKB/TrEMBL
  ENST00000417753.5 UniProtKB/TrEMBL
  ENST00000422701.1 UniProtKB/TrEMBL
  ENST00000445633.5 UniProtKB/TrEMBL
  ENST00000452531.5 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.1240 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000114268 GTEx
HGNC ID HGNC:8875 ENTREZGENE
Human Proteome Map PFKFB4 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:5210 UniProtKB/Swiss-Prot
NCBI Gene 5210 ENTREZGENE
OMIM 605320 OMIM
PANTHER 6-PHOSPHOFRUCTO-2-KINASE/FRUCTOSE-2,6-BISPHOSPHATASE 4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10606 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 6PF2K UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  His_Phos_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33214 PharmGKB
PIRSF 6PFK_2-Ptase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
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 B2R6L2 ENTREZGENE, UniProtKB/TrEMBL
  B7Z5C3 ENTREZGENE, UniProtKB/TrEMBL
  C9JJ23_HUMAN UniProtKB/TrEMBL
  C9JX77_HUMAN UniProtKB/TrEMBL
  C9K0D8_HUMAN UniProtKB/TrEMBL
  F264_HUMAN UniProtKB/Swiss-Prot
  F8WC12_HUMAN UniProtKB/TrEMBL
  F8WDY1_HUMAN UniProtKB/TrEMBL
  Q16877 ENTREZGENE
  Q5S3G5 ENTREZGENE
  Q5XLC2 ENTREZGENE
  Q5XLC3 ENTREZGENE, UniProtKB/TrEMBL
  Q64EX5 ENTREZGENE
  Q66S35 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q5S3G5 UniProtKB/Swiss-Prot
  Q5XLC2 UniProtKB/Swiss-Prot
  Q64EX5 UniProtKB/Swiss-Prot