GCKR (glucokinase regulator) - Rat Genome Database

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Gene: GCKR (glucokinase regulator) Homo sapiens
Analyze
Symbol: GCKR
Name: glucokinase regulator
RGD ID: 69130
HGNC Page HGNC:4196
Description: Enables fructose-6-phosphate binding activity; glucose sensor activity; and kinase inhibitor activity. Involved in response to hexose; triglyceride homeostasis; and urate metabolic process. Located in cytosol and nucleoplasm. Implicated in end stage renal disease and type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FGQTL5; GKRP; glucokinase (hexokinase 4) regulator; glucokinase (hexokinase 4) regulatory protein; glucokinase regulatory protein; hexokinase 4; hexokinase 4 regulator
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
GRCh38227,496,839 - 27,523,684 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl227,496,839 - 27,523,684 (+)EnsemblGRCh38hg38GRCh38
GRCh37227,719,706 - 27,746,551 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36227,573,210 - 27,600,055 (+)NCBINCBI36Build 36hg18NCBI36
Build 34227,631,356 - 27,658,199NCBI
Celera227,565,881 - 27,592,728 (+)NCBICelera
Cytogenetic Map2p23.3NCBI
HuRef227,461,595 - 27,488,434 (+)NCBIHuRef
CHM1_1227,649,617 - 27,676,462 (+)NCBICHM1_1
T2T-CHM13v2.0227,539,204 - 27,566,046 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (ISO)
2,3,4,7,8-Pentachlorodibenzofuran  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
alloxan  (ISO)
amiodarone  (ISO)
amitriptyline  (ISO)
amitrole  (ISO)
azathioprine  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
clofibric acid  (ISO)
clomipramine  (ISO)
cobalt dichloride  (ISO)
copper(II) sulfate  (EXP)
coumarin  (ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP,ISO)
endosulfan  (ISO)
ethylparaben  (EXP)
fenthion  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fructose  (ISO)
furan  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
imipramine  (ISO)
ketoconazole  (ISO)
lipopolysaccharide  (EXP)
metformin  (EXP)
methapyrilene  (ISO)
methidathion  (ISO)
methimazole  (ISO)
Muraglitazar  (ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
p-toluidine  (ISO)
paclitaxel  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
pentanal  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
pirinixic acid  (EXP,ISO)
potassium dichromate  (ISO)
propanal  (EXP)
quercetin  (EXP)
quinolin-8-ol  (EXP)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
senecionine  (ISO)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
sotorasib  (EXP)
sulfadimethoxine  (ISO)
tauroursodeoxycholic acid  (ISO)
Tesaglitazar  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
trametinib  (EXP)
triphenyl phosphate  (ISO)
troglitazone  (ISO)
urethane  (EXP)
ursodeoxycholic acid  (ISO)
valproic acid  (EXP,ISO)
vanillic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IEA,ISS)
cytosol  (IBA,IDA,IEA,TAS)
mitochondrion  (IEA)
nucleoplasm  (IBA,IDA,IEA,ISS,TAS)
nucleus  (IEA)

Molecular Function

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

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Association of eGFR-Related Loci Identified by GWAS with Incident CKD and ESRD. Boger CA, etal., PLoS Genet. 2011 Sep;7(9):e1002292. doi: 10.1371/journal.pgen.1002292. Epub 2011 Sep 29.
2. Variants of GCKR affect both beta-cell and kidney function in patients with newly diagnosed type 2 diabetes: the Verona newly diagnosed type 2 diabetes study 2. Bonetti S, etal., Diabetes Care. 2011 May;34(5):1205-10. doi: 10.2337/dc10-2218. Epub 2011 Mar 16.
3. Differences in regulatory properties between human and rat glucokinase regulatory protein. Brocklehurst KJ, etal., Biochem J. 2004 Mar 1;378(Pt 2):693-7.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Association of GCKR rs780094, alone or in combination with GCK rs1799884, with type 2 diabetes and related traits in a Han Chinese population. Qi Q, etal., Diabetologia. 2009 May;52(5):834-43. Epub 2009 Feb 25.
6. A common variant association study in ethnic Saudi Arabs reveals novel susceptibility loci for hypertriglyceridemia. Ram R, etal., Clin Genet. 2017 Mar;91(3):371-378. doi: 10.1111/cge.12859. Epub 2017 Jan 30.
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. Treatment of type 2 diabetes by adenoviral-mediated overexpression of the glucokinase regulatory protein. Slosberg ED, etal., Diabetes. 2001 Aug;50(8):1813-20.
10. Replication of the five novel loci for uric acid concentrations and potential mediating mechanisms. van der Harst P, etal., Hum Mol Genet. 2010 Jan 15;19(2):387-95. doi: 10.1093/hmg/ddp489. Epub 2009 Oct 27.
11. The common P446L polymorphism in GCKR inversely modulates fasting glucose and triglyceride levels and reduces type 2 diabetes risk in the DESIR prospective general French population. Vaxillaire M, etal., Diabetes. 2008 Aug;57(8):2253-7. Epub 2008 Jun 12.
12. Mutations in the glucokinase regulatory protein gene in 2p23 in obese French caucasians. Veiga-da-Cunha M, etal., Diabetologia. 2003 May;46(5):704-11. Epub 2003 May 9.
13. The effect of extended lymphadenectomy on survival in patients with gastric adenocarcinoma. Volpe CM, etal., J Am Coll Surg. 1995 Jul;181(1):56-64.
Additional References at PubMed
PMID:7508874   PMID:8589523   PMID:8626423   PMID:8662230   PMID:9000692   PMID:9570959   PMID:10588736   PMID:10601273   PMID:11522786   PMID:11756407   PMID:12477932   PMID:12591926  
PMID:15815621   PMID:16344560   PMID:16401311   PMID:17082186   PMID:17186219   PMID:17828387   PMID:18008060   PMID:18179892   PMID:18193043   PMID:18193044   PMID:18439548   PMID:18454146  
PMID:18596051   PMID:18678614   PMID:19056598   PMID:19060906   PMID:19060910   PMID:19060911   PMID:19068216   PMID:19073768   PMID:19148283   PMID:19247372   PMID:19503597   PMID:19526250  
PMID:19533084   PMID:19643913   PMID:19651812   PMID:19656773   PMID:19760754   PMID:19847674   PMID:19890391   PMID:19913121   PMID:19936222   PMID:19937311   PMID:20081857   PMID:20081858  
PMID:20139978   PMID:20160193   PMID:20161779   PMID:20162742   PMID:20162743   PMID:20167577   PMID:20185807   PMID:20352598   PMID:20383146   PMID:20490451   PMID:20570916   PMID:20571754  
PMID:20574426   PMID:20625834   PMID:20628086   PMID:20628598   PMID:20657596   PMID:20661421   PMID:20668700   PMID:20679960   PMID:20682687   PMID:20686565   PMID:20691829   PMID:20693352  
PMID:20705733   PMID:20800603   PMID:20802025   PMID:20864672   PMID:20879858   PMID:20884846   PMID:20889853   PMID:21036910   PMID:21054877   PMID:21071687   PMID:21072187   PMID:21102463  
PMID:21114848   PMID:21236713   PMID:21300955   PMID:21318467   PMID:21386085   PMID:21454522   PMID:21511510   PMID:21569451   PMID:21643755   PMID:21674002   PMID:21789219   PMID:21829377  
PMID:21873635   PMID:21886157   PMID:21909109   PMID:21943158   PMID:21988832   PMID:22001757   PMID:22015968   PMID:22038520   PMID:22105854   PMID:22139419   PMID:22182842   PMID:22286219  
PMID:22359512   PMID:22395765   PMID:22399527   PMID:22508271   PMID:22517333   PMID:22553379   PMID:22558069   PMID:22581228   PMID:22716779   PMID:22747683   PMID:22829776   PMID:22916037  
PMID:22956255   PMID:23022100   PMID:23118302   PMID:23263486   PMID:23307301   PMID:23362303   PMID:23383164   PMID:23416328   PMID:23505323   PMID:23586973   PMID:23621087   PMID:23726366  
PMID:23733961   PMID:23800943   PMID:23840762   PMID:23894584   PMID:23903356   PMID:23957911   PMID:23989113   PMID:24023260   PMID:24068962   PMID:24097068   PMID:24146201   PMID:24178511  
PMID:24385677   PMID:24386095   PMID:24477042   PMID:24498332   PMID:24535998   PMID:24568320   PMID:24785259   PMID:24804806   PMID:24816252   PMID:24879641   PMID:24891332   PMID:24918535  
PMID:25167786   PMID:25187374   PMID:25283508   PMID:25288136   PMID:25369983   PMID:25692341   PMID:25920552   PMID:25976242   PMID:26043229   PMID:26115082   PMID:26136510   PMID:26174136  
PMID:26261636   PMID:26290326   PMID:26291577   PMID:26432016   PMID:26433129   PMID:26515422   PMID:26578543   PMID:26620281   PMID:26799416   PMID:27015186   PMID:27146014   PMID:27455017  
PMID:27554451   PMID:27660121   PMID:27752939   PMID:28053049   PMID:28385800   PMID:28436986   PMID:28679452   PMID:28683826   PMID:29410004   PMID:29493856   PMID:29648650   PMID:29844224  
PMID:29858861   PMID:30055620   PMID:30091126   PMID:30176313   PMID:30352097   PMID:30375486   PMID:30527264   PMID:30616151   PMID:30710115   PMID:31255630   PMID:31305457   PMID:31308433  
PMID:31357711   PMID:31369557   PMID:31924263   PMID:32296183   PMID:32556615   PMID:33243135   PMID:33961781   PMID:34655193   PMID:35156780   PMID:35276241   PMID:35328045   PMID:35657990  
PMID:36243233   PMID:37081070   PMID:37524927   PMID:37648893   PMID:37829557   PMID:38101397  


Genomics

Comparative Map Data
GCKR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38227,496,839 - 27,523,684 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl227,496,839 - 27,523,684 (+)EnsemblGRCh38hg38GRCh38
GRCh37227,719,706 - 27,746,551 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36227,573,210 - 27,600,055 (+)NCBINCBI36Build 36hg18NCBI36
Build 34227,631,356 - 27,658,199NCBI
Celera227,565,881 - 27,592,728 (+)NCBICelera
Cytogenetic Map2p23.3NCBI
HuRef227,461,595 - 27,488,434 (+)NCBIHuRef
CHM1_1227,649,617 - 27,676,462 (+)NCBICHM1_1
T2T-CHM13v2.0227,539,204 - 27,566,046 (+)NCBIT2T-CHM13v2.0
Gckr
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39531,454,594 - 31,484,646 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl531,454,787 - 31,484,658 (+)EnsemblGRCm39 Ensembl
GRCm38531,297,266 - 31,327,302 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl531,297,443 - 31,327,314 (+)EnsemblGRCm38mm10GRCm38
MGSCv37531,599,954 - 31,629,675 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36531,574,162 - 31,603,883 (+)NCBIMGSCv36mm8
Celera528,776,863 - 28,806,281 (+)NCBICelera
Cytogenetic Map5B1NCBI
cM Map517.27NCBI
Gckr
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8630,765,071 - 30,795,627 (-)NCBIGRCr8
mRatBN7.2625,044,592 - 25,075,834 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl625,045,100 - 25,075,654 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx625,345,943 - 25,376,501 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0625,661,829 - 25,692,391 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0625,141,212 - 25,171,764 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0626,355,296 - 26,385,761 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl626,355,296 - 26,385,761 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0636,175,967 - 36,205,241 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera624,538,242 - 24,568,355 (-)NCBICelera
RH 3.4 Map693.5RGD
Cytogenetic Map6q14NCBI
Gckr
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554699,461,848 - 9,484,707 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554699,461,541 - 9,485,034 (+)NCBIChiLan1.0ChiLan1.0
GCKR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21298,988,257 - 99,016,423 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A98,991,561 - 99,020,392 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A27,497,938 - 27,530,650 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A27,587,077 - 27,613,927 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A27,587,077 - 27,613,927 (+)Ensemblpanpan1.1panPan2
GCKR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11721,431,113 - 21,460,143 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1721,434,200 - 21,459,935 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1721,325,464 - 21,351,412 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01721,748,359 - 21,780,870 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1721,755,097 - 21,780,825 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11721,441,647 - 21,467,181 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01721,451,118 - 21,476,635 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01721,499,397 - 21,525,150 (+)NCBIUU_Cfam_GSD_1.0
Gckr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629265,735,931 - 65,759,598 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364935,080,559 - 5,101,892 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364935,080,517 - 5,101,892 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GCKR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl3111,649,539 - 111,676,772 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.13111,649,557 - 111,683,539 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23118,789,323 - 118,823,342 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GCKR
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11480,069,662 - 80,124,038 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1480,100,436 - 80,123,686 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604532,031,883 - 32,058,078 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gckr
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247389,552,386 - 9,574,082 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247389,552,260 - 9,574,082 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GCKR
186 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001486.4(GCKR):c.1337T>C (p.Leu446Pro) single nucleotide variant Fasting plasma glucose level quantitative trait locus 5 [RCV000009294]|not provided [RCV001618209] Chr2:27508073 [GRCh38]
Chr2:27730940 [GRCh37]
Chr2:2p23.3		 association|benign
GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 copy number gain See cases [RCV000052929] Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1		 pathogenic
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1		 pathogenic
NM_001486.3(GCKR):c.742G>T (p.Ala248Ser) single nucleotide variant Malignant melanoma [RCV000065531] Chr2:27503611 [GRCh38]
Chr2:27726478 [GRCh37]
Chr2:27579982 [NCBI36]
Chr2:2p23.3		 not provided
NM_001486.3(GCKR):c.1341C>T (p.Ile447=) single nucleotide variant Malignant melanoma [RCV000065532] Chr2:27508170 [GRCh38]
Chr2:27731037 [GRCh37]
Chr2:27584541 [NCBI36]
Chr2:2p23.3		 not provided
NM_001486.3(GCKR):c.1603A>C (p.Ile535Leu) single nucleotide variant Malignant melanoma [RCV000065533] Chr2:27522490 [GRCh38]
Chr2:27745357 [GRCh37]
Chr2:27598861 [NCBI36]
Chr2:2p23.3		 not provided
NM_001486.3(GCKR):c.1783C>T (p.Pro595Ser) single nucleotide variant Malignant melanoma [RCV000065534] Chr2:27523344 [GRCh38]
Chr2:27746211 [GRCh37]
Chr2:27599715 [NCBI36]
Chr2:2p23.3		 not provided
NM_001486.4(GCKR):c.1368C>T (p.Ile456=) single nucleotide variant not provided [RCV000122493] Chr2:27508197 [GRCh38]
Chr2:27731064 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.751-1G>A single nucleotide variant not provided [RCV002293010] Chr2:27505717 [GRCh38]
Chr2:27728584 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3 copy number gain See cases [RCV000135398] Chr2:30341..28419664 [GRCh38]
Chr2:30341..28642531 [GRCh37]
Chr2:20341..28496035 [NCBI36]
Chr2:2p25.3-23.2		 pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2		 benign
GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1 copy number loss See cases [RCV000142071] Chr2:22579652..28525186 [GRCh38]
Chr2:22802524..28748053 [GRCh37]
Chr2:22656029..28601557 [NCBI36]
Chr2:2p24.1-23.2		 pathogenic
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21		 pathogenic
NM_001486.4(GCKR):c.151C>T (p.Arg51Ter) single nucleotide variant not provided [RCV000256099] Chr2:27497334 [GRCh38]
Chr2:27720201 [GRCh37]
Chr2:2p23.3		 likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001486.4(GCKR):c.644+148A>G single nucleotide variant not provided [RCV001566959] Chr2:27501377 [GRCh38]
Chr2:27724244 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.230A>G (p.Glu77Gly) single nucleotide variant Fasting plasma glucose level quantitative trait locus 5 [RCV000490308]|GCKR-related condition [RCV003967564]|not provided [RCV001723785] Chr2:27497575 [GRCh38]
Chr2:27720442 [GRCh37]
Chr2:2p23.3		 benign|likely benign|uncertain significance
NM_001486.4(GCKR):c.307G>A (p.Val103Met) single nucleotide variant Fasting plasma glucose level quantitative trait locus 5 [RCV000490466]|Hypertriglyceridemia [RCV001258241]|not provided [RCV002057059]|not specified [RCV002247642] Chr2:27498276 [GRCh38]
Chr2:27721143 [GRCh37]
Chr2:2p23.3		 likely pathogenic|benign|uncertain significance
NM_001486.4(GCKR):c.1863G>T (p.Glu621Asp) single nucleotide variant Inborn genetic diseases [RCV003268011] Chr2:27523424 [GRCh38]
Chr2:27746291 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1585C>T (p.Gln529Ter) single nucleotide variant not provided [RCV000483368] Chr2:27522472 [GRCh38]
Chr2:27745339 [GRCh37]
Chr2:2p23.3		 likely pathogenic|uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001486.4(GCKR):c.353C>T (p.Ser118Leu) single nucleotide variant Inborn genetic diseases [RCV003279677] Chr2:27498322 [GRCh38]
Chr2:27721189 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.172G>A (p.Ala58Thr) single nucleotide variant Inborn genetic diseases [RCV003257836]|not provided [RCV003720833] Chr2:27497355 [GRCh38]
Chr2:27720222 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.904G>A (p.Ala302Thr) single nucleotide variant Inborn genetic diseases [RCV003275082] Chr2:27506515 [GRCh38]
Chr2:27729382 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.829G>T (p.Ala277Ser) single nucleotide variant Inborn genetic diseases [RCV003256319] Chr2:27505796 [GRCh38]
Chr2:27728663 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 copy number gain not provided [RCV000752875] Chr2:22665048..52850368 [GRCh37]
Chr2:2p24.1-16.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001486.4(GCKR):c.1144-153C>T single nucleotide variant not provided [RCV001574182] Chr2:27507528 [GRCh38]
Chr2:27730395 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.751-9C>T single nucleotide variant not provided [RCV000930354] Chr2:27505709 [GRCh38]
Chr2:27728576 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.832C>G (p.His278Asp) single nucleotide variant Inborn genetic diseases [RCV003271635] Chr2:27505799 [GRCh38]
Chr2:27728666 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1215T>C (p.Thr405=) single nucleotide variant not provided [RCV000893416] Chr2:27507752 [GRCh38]
Chr2:27730619 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_001486.4(GCKR):c.1618C>T (p.Arg540Ter) single nucleotide variant Fasting plasma glucose level quantitative trait locus 5 [RCV002476853]|not provided [RCV001550408] Chr2:27522505 [GRCh38]
Chr2:27745372 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1067-28C>T single nucleotide variant not provided [RCV001548578] Chr2:27507207 [GRCh38]
Chr2:27730074 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.869+109G>A single nucleotide variant not provided [RCV001568241] Chr2:27505945 [GRCh38]
Chr2:27728812 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.248T>C (p.Met83Thr) single nucleotide variant not provided [RCV001590764] Chr2:27497593 [GRCh38]
Chr2:27720460 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.968+34G>A single nucleotide variant not provided [RCV001657249] Chr2:27506613 [GRCh38]
Chr2:27729480 [GRCh37]
Chr2:2p23.3		 benign
NM_001486.4(GCKR):c.701A>C (p.Gln234Pro) single nucleotide variant not provided [RCV001575406] Chr2:27503570 [GRCh38]
Chr2:27726437 [GRCh37]
Chr2:2p23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3 copy number gain not provided [RCV001532444] Chr2:24881528..43460021 [GRCh37]
Chr2:2p23.3-21		 likely pathogenic
NM_001486.4(GCKR):c.549+203_549+204del microsatellite not provided [RCV001567018] Chr2:27499650..27499651 [GRCh38]
Chr2:27722517..27722518 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.*104G>A single nucleotide variant not provided [RCV001673732] Chr2:27523543 [GRCh38]
Chr2:27746410 [GRCh37]
Chr2:2p23.3		 benign
NM_001486.4(GCKR):c.1423-22C>G single nucleotide variant not provided [RCV001539599] Chr2:27518766 [GRCh38]
Chr2:27741633 [GRCh37]
Chr2:2p23.3		 benign
NM_001486.4(GCKR):c.1768C>T (p.His590Tyr) single nucleotide variant not provided [RCV001556961] Chr2:27523329 [GRCh38]
Chr2:27746196 [GRCh37]
Chr2:2p23.3		 likely benign
NC_000002.12:g.27523686T>C single nucleotide variant not provided [RCV001562888] Chr2:27523686 [GRCh38]
Chr2:27746553 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.-9C>T single nucleotide variant not provided [RCV001557863] Chr2:27496896 [GRCh38]
Chr2:27719763 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.870-155C>T single nucleotide variant not provided [RCV001559093] Chr2:27506326 [GRCh38]
Chr2:27729193 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.217-67C>G single nucleotide variant not provided [RCV001593872] Chr2:27497495 [GRCh38]
Chr2:27720362 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.1241-27G>A single nucleotide variant not provided [RCV001687835] Chr2:27507950 [GRCh38]
Chr2:27730817 [GRCh37]
Chr2:2p23.3		 benign
NM_001486.4(GCKR):c.244A>G (p.Thr82Ala) single nucleotide variant not provided [RCV001590882] Chr2:27497589 [GRCh38]
Chr2:27720456 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_001486.4(GCKR):c.1422+258C>T single nucleotide variant not provided [RCV001698802] Chr2:27508509 [GRCh38]
Chr2:27731376 [GRCh37]
Chr2:2p23.3		 benign
NM_001486.4(GCKR):c.549+99G>A single nucleotide variant not provided [RCV001620037] Chr2:27499549 [GRCh38]
Chr2:27722416 [GRCh37]
Chr2:2p23.3		 benign
NM_001486.4(GCKR):c.869+74C>G single nucleotide variant not provided [RCV001649788] Chr2:27505910 [GRCh38]
Chr2:27728777 [GRCh37]
Chr2:2p23.3		 benign
NM_001486.4(GCKR):c.1708-128T>C single nucleotide variant not provided [RCV001583050] Chr2:27523141 [GRCh38]
Chr2:27746008 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.354+132C>G single nucleotide variant not provided [RCV001668789] Chr2:27498455 [GRCh38]
Chr2:27721322 [GRCh37]
Chr2:2p23.3		 benign
NM_001486.4(GCKR):c.1422+94T>C single nucleotide variant not provided [RCV001696667] Chr2:27508345 [GRCh38]
Chr2:27731212 [GRCh37]
Chr2:2p23.3		 benign
NM_001486.4(GCKR):c.1708-190A>G single nucleotide variant not provided [RCV001693876] Chr2:27523079 [GRCh38]
Chr2:27745946 [GRCh37]
Chr2:2p23.3		 benign
NM_001486.4(GCKR):c.1135dup (p.Thr379fs) duplication not provided [RCV001200427] Chr2:27507302..27507303 [GRCh38]
Chr2:27730169..27730170 [GRCh37]
Chr2:2p23.3		 likely pathogenic|conflicting interpretations of pathogenicity
NM_001486.4(GCKR):c.216+9_216+10del deletion not provided [RCV001813841] Chr2:27497407..27497408 [GRCh38]
Chr2:27720274..27720275 [GRCh37]
Chr2:2p23.3		 benign
NM_001486.4(GCKR):c.271C>A (p.Gln91Lys) single nucleotide variant not provided [RCV001357134] Chr2:27497616 [GRCh38]
Chr2:27720483 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.217-44C>T single nucleotide variant not provided [RCV001681891] Chr2:27497518 [GRCh38]
Chr2:27720385 [GRCh37]
Chr2:2p23.3		 benign
GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3 copy number gain See cases [RCV001581099] Chr2:24601818..43466284 [GRCh37]
Chr2:2p23.3-21		 pathogenic
NM_001486.4(GCKR):c.429-38T>C single nucleotide variant not provided [RCV001682475] Chr2:27499104 [GRCh38]
Chr2:27721971 [GRCh37]
Chr2:2p23.3		 benign
NM_001486.4(GCKR):c.1619G>A (p.Arg540Gln) single nucleotide variant not provided [RCV001520406] Chr2:27522506 [GRCh38]
Chr2:27745373 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_001486.4(GCKR):c.1338+21_1338+24del deletion not provided [RCV001786025] Chr2:27508095..27508098 [GRCh38]
Chr2:27730962..27730965 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.14A>G (p.Lys5Arg) single nucleotide variant not provided [RCV001768998] Chr2:27496918 [GRCh38]
Chr2:27719785 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1061G>T (p.Gly354Val) single nucleotide variant not provided [RCV001758645] Chr2:27506880 [GRCh38]
Chr2:27729747 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.679C>T (p.Arg227Ter) single nucleotide variant not provided [RCV001756699] Chr2:27503548 [GRCh38]
Chr2:27726415 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1748C>T (p.Ser583Leu) single nucleotide variant not provided [RCV001949174] Chr2:27523309 [GRCh38]
Chr2:27746176 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.997G>T (p.Val333Phe) single nucleotide variant not provided [RCV002022801] Chr2:27506816 [GRCh38]
Chr2:27729683 [GRCh37]
Chr2:2p23.3		 uncertain significance
NC_000002.11:g.(?_24443763)_(27746306_?)dup duplication Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001911738] Chr2:24443763..27746306 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.610G>A (p.Val204Ile) single nucleotide variant not provided [RCV002021000] Chr2:27501195 [GRCh38]
Chr2:27724062 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.737A>T (p.Asn246Ile) single nucleotide variant Inborn genetic diseases [RCV003289289]|not provided [RCV001982712] Chr2:27503606 [GRCh38]
Chr2:27726473 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1614C>T (p.Leu538=) single nucleotide variant not provided [RCV002005855] Chr2:27522501 [GRCh38]
Chr2:27745368 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.124G>A (p.Asp42Asn) single nucleotide variant not provided [RCV002042696] Chr2:27497307 [GRCh38]
Chr2:27720174 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1433G>A (p.Arg478His) single nucleotide variant Fasting plasma glucose level quantitative trait locus 5 [RCV002479777]|not provided [RCV002043235] Chr2:27518798 [GRCh38]
Chr2:27741665 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.548C>T (p.Ser183Phe) single nucleotide variant Fasting plasma glucose level quantitative trait locus 5 [RCV002479452]|not provided [RCV001921705] Chr2:27499449 [GRCh38]
Chr2:27722316 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.127A>G (p.Lys43Glu) single nucleotide variant not provided [RCV001867225] Chr2:27497310 [GRCh38]
Chr2:27720177 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.893C>T (p.Thr298Ile) single nucleotide variant not provided [RCV001956734] Chr2:27506504 [GRCh38]
Chr2:27729371 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.73G>A (p.Glu25Lys) single nucleotide variant not provided [RCV002027160] Chr2:27497256 [GRCh38]
Chr2:27720123 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1312C>T (p.His438Tyr) single nucleotide variant not provided [RCV001974668] Chr2:27508048 [GRCh38]
Chr2:27730915 [GRCh37]
Chr2:2p23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001486.4(GCKR):c.1444A>G (p.Thr482Ala) single nucleotide variant not provided [RCV001920326] Chr2:27518809 [GRCh38]
Chr2:27741676 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.740C>T (p.Pro247Leu) single nucleotide variant Fasting plasma glucose level quantitative trait locus 5 [RCV002506956]|not provided [RCV001902813] Chr2:27503609 [GRCh38]
Chr2:27726476 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1572+6G>A single nucleotide variant not provided [RCV002091857] Chr2:27518943 [GRCh38]
Chr2:27741810 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.822A>G (p.Leu274=) single nucleotide variant not provided [RCV002088492] Chr2:27505789 [GRCh38]
Chr2:27728656 [GRCh37]
Chr2:2p23.3		 benign
NM_001486.4(GCKR):c.1501C>T (p.Leu501=) single nucleotide variant not provided [RCV002168115] Chr2:27518866 [GRCh38]
Chr2:27741733 [GRCh37]
Chr2:2p23.3		 benign
NM_001486.4(GCKR):c.718C>T (p.Gln240Ter) single nucleotide variant not provided [RCV002224445] Chr2:27503587 [GRCh38]
Chr2:27726454 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.354G>A (p.Ser118=) single nucleotide variant not provided [RCV002147925] Chr2:27498323 [GRCh38]
Chr2:27721190 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_001486.4(GCKR):c.1140C>T (p.Asn380=) single nucleotide variant not provided [RCV002088383] Chr2:27507308 [GRCh38]
Chr2:27730175 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.286-6C>T single nucleotide variant not provided [RCV002173524] Chr2:27498249 [GRCh38]
Chr2:27721116 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.1423-18T>C single nucleotide variant not provided [RCV002130607] Chr2:27518770 [GRCh38]
Chr2:27741637 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.1550G>A (p.Trp517Ter) single nucleotide variant Fasting plasma glucose level quantitative trait locus 5 [RCV002487009]|not provided [RCV002223438] Chr2:27518915 [GRCh38]
Chr2:27741782 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.550-2A>G single nucleotide variant not provided [RCV002223554] Chr2:27501133 [GRCh38]
Chr2:27724000 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001486.4(GCKR):c.216+16G>T single nucleotide variant not provided [RCV002164484] Chr2:27497415 [GRCh38]
Chr2:27720282 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.474C>T (p.His158=) single nucleotide variant not provided [RCV002199703] Chr2:27499187 [GRCh38]
Chr2:27722054 [GRCh37]
Chr2:2p23.3		 benign
NM_001486.4(GCKR):c.1337_1338delinsCC (p.Leu446Pro) indel not provided [RCV002182980] Chr2:27508073..27508074 [GRCh38]
Chr2:27730940..27730941 [GRCh37]
Chr2:2p23.3		 likely benign|conflicting interpretations of pathogenicity
NM_001486.4(GCKR):c.680G>A (p.Arg227Gln) single nucleotide variant not provided [RCV002103961] Chr2:27503549 [GRCh38]
Chr2:27726416 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.428+19T>C single nucleotide variant not provided [RCV002141629] Chr2:27498816 [GRCh38]
Chr2:27721683 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.1513_1514del (p.Met505fs) deletion not provided [RCV002139814] Chr2:27518878..27518879 [GRCh38]
Chr2:27741745..27741746 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.1246C>G (p.Leu416Val) single nucleotide variant not provided [RCV003115247] Chr2:27507982 [GRCh38]
Chr2:27730849 [GRCh37]
Chr2:2p23.3		 uncertain significance
NC_000002.11:g.(?_24443763)_(29022169_?)dup duplication Tatton-Brown-Rahman overgrowth syndrome [RCV003113871]|not provided [RCV003113870] Chr2:24443763..29022169 [GRCh37]
Chr2:2p23.3-23.2		 uncertain significance|no classifications from unflagged records
NM_001486.4(GCKR):c.887T>G (p.Leu296Trp) single nucleotide variant not provided [RCV003116177] Chr2:27506498 [GRCh38]
Chr2:27729365 [GRCh37]
Chr2:2p23.3		 uncertain significance
NC_000002.11:g.(?_24443763)_(30143525_?)dup duplication not provided [RCV003113441] Chr2:24443763..30143525 [GRCh37]
Chr2:2p23.3-23.1		 uncertain significance
NC_000002.11:g.(?_27712462)_(27726506_?)dup duplication Short-rib thoracic dysplasia 10 with or without polydactyly [RCV003119647] Chr2:27712462..27726506 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1453G>T (p.Val485Leu) single nucleotide variant not provided [RCV002274532] Chr2:27518818 [GRCh38]
Chr2:27741685 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13		 pathogenic
NM_001486.4(GCKR):c.1534A>G (p.Asn512Asp) single nucleotide variant Inborn genetic diseases [RCV003280202] Chr2:27518899 [GRCh38]
Chr2:27741766 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3 copy number gain not provided [RCV002473946] Chr2:706460..35523639 [GRCh37]
Chr2:2p25.3-22.3		 pathogenic
NM_001486.4(GCKR):c.335G>A (p.Arg112Gln) single nucleotide variant Inborn genetic diseases [RCV003097883]|not provided [RCV002301030] Chr2:27498304 [GRCh38]
Chr2:27721171 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.51C>T (p.Gly17=) single nucleotide variant not provided [RCV003032970] Chr2:27496955 [GRCh38]
Chr2:27719822 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.189G>A (p.Glu63=) single nucleotide variant not provided [RCV002971480] Chr2:27497372 [GRCh38]
Chr2:27720239 [GRCh37]
Chr2:2p23.3		 benign
NM_001486.4(GCKR):c.1283A>G (p.Glu428Gly) single nucleotide variant Inborn genetic diseases [RCV002901784] Chr2:27508019 [GRCh38]
Chr2:27730886 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1294C>T (p.His432Tyr) single nucleotide variant not provided [RCV002775038] Chr2:27508030 [GRCh38]
Chr2:27730897 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1555G>A (p.Ala519Thr) single nucleotide variant not provided [RCV002974966] Chr2:27518920 [GRCh38]
Chr2:27741787 [GRCh37]
Chr2:2p23.3		 likely benign|conflicting interpretations of pathogenicity
NM_001486.4(GCKR):c.228C>A (p.Ser76Arg) single nucleotide variant not provided [RCV002974881] Chr2:27497573 [GRCh38]
Chr2:27720440 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.320G>T (p.Gly107Val) single nucleotide variant Inborn genetic diseases [RCV002884001] Chr2:27498289 [GRCh38]
Chr2:27721156 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1606G>A (p.Glu536Lys) single nucleotide variant Inborn genetic diseases [RCV002779420]|not provided [RCV003778643] Chr2:27522493 [GRCh38]
Chr2:27745360 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.889C>T (p.Arg297Trp) single nucleotide variant Inborn genetic diseases [RCV002993339] Chr2:27506500 [GRCh38]
Chr2:27729367 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1573C>T (p.Arg525Trp) single nucleotide variant not provided [RCV003073842] Chr2:27522460 [GRCh38]
Chr2:27745327 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.548_549del (p.Ser183fs) microsatellite not provided [RCV002974965] Chr2:27499445..27499446 [GRCh38]
Chr2:27722312..27722313 [GRCh37]
Chr2:2p23.3		 likely benign|conflicting interpretations of pathogenicity
NM_001486.4(GCKR):c.17G>A (p.Arg6Gln) single nucleotide variant Inborn genetic diseases [RCV002727677] Chr2:27496921 [GRCh38]
Chr2:27719788 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1576T>G (p.Phe526Val) single nucleotide variant Inborn genetic diseases [RCV002981140]|not provided [RCV003111743] Chr2:27522463 [GRCh38]
Chr2:27745330 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1225A>G (p.Ile409Val) single nucleotide variant not provided [RCV003019422] Chr2:27507762 [GRCh38]
Chr2:27730629 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.98A>G (p.Lys33Arg) single nucleotide variant Inborn genetic diseases [RCV002884579] Chr2:27497281 [GRCh38]
Chr2:27720148 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.954G>A (p.Lys318=) single nucleotide variant not provided [RCV002979709] Chr2:27506565 [GRCh38]
Chr2:27729432 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.229G>A (p.Glu77Lys) single nucleotide variant Inborn genetic diseases [RCV002980869] Chr2:27497574 [GRCh38]
Chr2:27720441 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1184C>G (p.Ser395Cys) single nucleotide variant not provided [RCV003008326] Chr2:27507721 [GRCh38]
Chr2:27730588 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1168G>A (p.Glu390Lys) single nucleotide variant not provided [RCV002914900] Chr2:27507705 [GRCh38]
Chr2:27730572 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.656T>C (p.Ile219Thr) single nucleotide variant Inborn genetic diseases [RCV002984397] Chr2:27503525 [GRCh38]
Chr2:27726392 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.549+18T>C single nucleotide variant not provided [RCV002786610] Chr2:27499468 [GRCh38]
Chr2:27722335 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.58G>A (p.Glu20Lys) single nucleotide variant not provided [RCV002595037] Chr2:27496962 [GRCh38]
Chr2:27719829 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1741C>T (p.Arg581Trp) single nucleotide variant Inborn genetic diseases [RCV002849695]|not provided [RCV003565589] Chr2:27523302 [GRCh38]
Chr2:27746169 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.997G>C (p.Val333Leu) single nucleotide variant Inborn genetic diseases [RCV002804809] Chr2:27506816 [GRCh38]
Chr2:27729683 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1722C>T (p.Ala574=) single nucleotide variant not provided [RCV002891092] Chr2:27523283 [GRCh38]
Chr2:27746150 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.552_553del (p.Pro185fs) deletion not provided [RCV002853460] Chr2:27501136..27501137 [GRCh38]
Chr2:27724003..27724004 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.71A>G (p.Tyr24Cys) single nucleotide variant Inborn genetic diseases [RCV002745021] Chr2:27497254 [GRCh38]
Chr2:27720121 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1765G>A (p.Ala589Thr) single nucleotide variant Inborn genetic diseases [RCV002644949] Chr2:27523326 [GRCh38]
Chr2:27746193 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.695G>A (p.Arg232Gln) single nucleotide variant not provided [RCV002664226] Chr2:27503564 [GRCh38]
Chr2:27726431 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.766G>A (p.Gly256Ser) single nucleotide variant not provided [RCV003090911] Chr2:27505733 [GRCh38]
Chr2:27728600 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.592A>T (p.Thr198Ser) single nucleotide variant Inborn genetic diseases [RCV002941524] Chr2:27501177 [GRCh38]
Chr2:27724044 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1160T>C (p.Phe387Ser) single nucleotide variant not provided [RCV002602290] Chr2:27507697 [GRCh38]
Chr2:27730564 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.152G>A (p.Arg51Gln) single nucleotide variant not provided [RCV003086450] Chr2:27497335 [GRCh38]
Chr2:27720202 [GRCh37]
Chr2:2p23.3		 benign
NM_001486.4(GCKR):c.775C>T (p.Arg259Trp) single nucleotide variant not provided [RCV002963342] Chr2:27505742 [GRCh38]
Chr2:27728609 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1564A>G (p.Met522Val) single nucleotide variant Inborn genetic diseases [RCV002648756] Chr2:27518929 [GRCh38]
Chr2:27741796 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.42G>A (p.Pro14=) single nucleotide variant not provided [RCV002628311] Chr2:27496946 [GRCh38]
Chr2:27719813 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.988G>A (p.Val330Met) single nucleotide variant Inborn genetic diseases [RCV002675349] Chr2:27506807 [GRCh38]
Chr2:27729674 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1066+4G>C single nucleotide variant GCKR-related condition [RCV003963584]|not provided [RCV003063313] Chr2:27506889 [GRCh38]
Chr2:27729756 [GRCh37]
Chr2:2p23.3		 likely benign|uncertain significance
NM_001486.4(GCKR):c.874C>T (p.Leu292Phe) single nucleotide variant Inborn genetic diseases [RCV002944871] Chr2:27506485 [GRCh38]
Chr2:27729352 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1465G>A (p.Val489Met) single nucleotide variant not provided [RCV002604002] Chr2:27518830 [GRCh38]
Chr2:27741697 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.96G>T (p.Glu32Asp) single nucleotide variant not provided [RCV002607495] Chr2:27497279 [GRCh38]
Chr2:27720146 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1072C>T (p.Arg358Ter) single nucleotide variant not provided [RCV003051244] Chr2:27507240 [GRCh38]
Chr2:27730107 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.395C>T (p.Pro132Leu) single nucleotide variant not provided [RCV003068906] Chr2:27498764 [GRCh38]
Chr2:27721631 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1481A>G (p.His494Arg) single nucleotide variant Inborn genetic diseases [RCV003215894] Chr2:27518846 [GRCh38]
Chr2:27741713 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1321G>A (p.Val441Met) single nucleotide variant Inborn genetic diseases [RCV003260511] Chr2:27508057 [GRCh38]
Chr2:27730924 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1431G>T (p.Gln477His) single nucleotide variant Inborn genetic diseases [RCV003368746] Chr2:27518796 [GRCh38]
Chr2:27741663 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.559G>T (p.Val187Leu) single nucleotide variant Inborn genetic diseases [RCV003371355]|not provided [RCV003778047] Chr2:27501144 [GRCh38]
Chr2:27724011 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.50G>A (p.Gly17Asp) single nucleotide variant not provided [RCV003569980] Chr2:27496954 [GRCh38]
Chr2:27719821 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1251G>C (p.Thr417=) single nucleotide variant not provided [RCV003570686] Chr2:27507987 [GRCh38]
Chr2:27730854 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.934A>G (p.Lys312Glu) single nucleotide variant not provided [RCV003825786] Chr2:27506545 [GRCh38]
Chr2:27729412 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1339-2A>C single nucleotide variant GCKR-related condition [RCV003429115] Chr2:27508166 [GRCh38]
Chr2:27731033 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1147C>A (p.Pro383Thr) single nucleotide variant not provided [RCV003407189] Chr2:27507684 [GRCh38]
Chr2:27730551 [GRCh37]
Chr2:2p23.3		 likely benign|conflicting interpretations of pathogenicity
NM_001486.4(GCKR):c.16C>T (p.Arg6Trp) single nucleotide variant not provided [RCV003441431] Chr2:27496920 [GRCh38]
Chr2:27719787 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.629C>A (p.Pro210Gln) single nucleotide variant not provided [RCV003442569] Chr2:27501214 [GRCh38]
Chr2:27724081 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1066+14C>T single nucleotide variant not provided [RCV003881236] Chr2:27506899 [GRCh38]
Chr2:27729766 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.1659G>A (p.Arg553=) single nucleotide variant not provided [RCV003740050] Chr2:27522546 [GRCh38]
Chr2:27745413 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.217-8C>T single nucleotide variant not provided [RCV003546386] Chr2:27497554 [GRCh38]
Chr2:27720421 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.757G>T (p.Gly253Cys) single nucleotide variant not provided [RCV003689806] Chr2:27505724 [GRCh38]
Chr2:27728591 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1328A>G (p.Gln443Arg) single nucleotide variant not provided [RCV003575504] Chr2:27508064 [GRCh38]
Chr2:27730931 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.919T>G (p.Tyr307Asp) single nucleotide variant not provided [RCV003550008] Chr2:27506530 [GRCh38]
Chr2:27729397 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.1849del (p.Leu617fs) deletion not provided [RCV003810793] Chr2:27523406 [GRCh38]
Chr2:27746273 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1066+11A>G single nucleotide variant not provided [RCV003698213] Chr2:27506896 [GRCh38]
Chr2:27729763 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.783A>G (p.Lys261=) single nucleotide variant not provided [RCV003740466] Chr2:27505750 [GRCh38]
Chr2:27728617 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.1707+16C>T single nucleotide variant not provided [RCV003810818] Chr2:27522610 [GRCh38]
Chr2:27745477 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.937_940del (p.Ile313fs) deletion not provided [RCV003840406] Chr2:27506547..27506550 [GRCh38]
Chr2:27729414..27729417 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.394C>G (p.Pro132Ala) single nucleotide variant not provided [RCV003723480] Chr2:27498763 [GRCh38]
Chr2:27721630 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1144-16TCT[2] microsatellite not provided [RCV003810880] Chr2:27507665..27507667 [GRCh38]
Chr2:27730532..27730534 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.1581T>C (p.Ser527=) single nucleotide variant not provided [RCV003699619] Chr2:27522468 [GRCh38]
Chr2:27745335 [GRCh37]
Chr2:2p23.3		 benign
NM_001486.4(GCKR):c.645A>C (p.Arg215Ser) single nucleotide variant not provided [RCV003665463] Chr2:27503514 [GRCh38]
Chr2:27726381 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1202C>T (p.Thr401Met) single nucleotide variant not provided [RCV003559565] Chr2:27507739 [GRCh38]
Chr2:27730606 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1423-11G>T single nucleotide variant not provided [RCV003846489] Chr2:27518777 [GRCh38]
Chr2:27741644 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.1552C>T (p.Arg518Trp) single nucleotide variant not provided [RCV003554923] Chr2:27518917 [GRCh38]
Chr2:27741784 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.9C>T (p.Gly3=) single nucleotide variant not provided [RCV003722842] Chr2:27496913 [GRCh38]
Chr2:27719780 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.890G>A (p.Arg297Gln) single nucleotide variant not provided [RCV003719504] Chr2:27506501 [GRCh38]
Chr2:27729368 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.645-14T>A single nucleotide variant not provided [RCV003859143] Chr2:27503500 [GRCh38]
Chr2:27726367 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.504C>T (p.Ala168=) single nucleotide variant not provided [RCV003566508] Chr2:27499405 [GRCh38]
Chr2:27722272 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.1143+16G>A single nucleotide variant not provided [RCV003870050] Chr2:27507327 [GRCh38]
Chr2:27730194 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.217-4A>G single nucleotide variant not provided [RCV003550501] Chr2:27497558 [GRCh38]
Chr2:27720425 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.354+16T>A single nucleotide variant not provided [RCV003845293] Chr2:27498339 [GRCh38]
Chr2:27721206 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.1278G>A (p.Val426=) single nucleotide variant not provided [RCV003706940] Chr2:27508014 [GRCh38]
Chr2:27730881 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1423-19A>G single nucleotide variant not provided [RCV003847857] Chr2:27518769 [GRCh38]
Chr2:27741636 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.1353G>C (p.Lys451Asn) single nucleotide variant not provided [RCV003730017] Chr2:27508182 [GRCh38]
Chr2:27731049 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1508A>G (p.Asn503Ser) single nucleotide variant not provided [RCV003736156] Chr2:27518873 [GRCh38]
Chr2:27741740 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.285+8C>A single nucleotide variant GCKR-related condition [RCV003932102] Chr2:27497638 [GRCh38]
Chr2:27720505 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.428+6C>T single nucleotide variant GCKR-related condition [RCV003941750] Chr2:27498803 [GRCh38]
Chr2:27721670 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001486.4(GCKR):c.912G>A (p.Gln304=) single nucleotide variant not provided [RCV003737753] Chr2:27506523 [GRCh38]
Chr2:27729390 [GRCh37]
Chr2:2p23.3		 likely benign
GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 copy number gain See cases [RCV000141829] Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3		 pathogenic
NM_001486.4(GCKR):c.17_22dup (p.Arg6_Phe7dup) duplication Fasting plasma glucose level quantitative trait locus 5 [RCV002477925]|not provided [RCV001756698] Chr2:27496919..27496920 [GRCh38]
Chr2:27719786..27719787 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1439T>A (p.Leu480Gln) single nucleotide variant not provided [RCV003328834] Chr2:27518804 [GRCh38]
Chr2:27741671 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.1709T>G (p.Val570Gly) single nucleotide variant Fasting plasma glucose level quantitative trait locus 5 [RCV003333890] Chr2:27523270 [GRCh38]
Chr2:27746137 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001486.4(GCKR):c.290C>T (p.Pro97Leu) single nucleotide variant Inborn genetic diseases [RCV003369198] Chr2:27498259 [GRCh38]
Chr2:27721126 [GRCh37]
Chr2:2p23.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1496
Count of miRNA genes:749
Interacting mature miRNAs:865
Transcripts:ENST00000264717, ENST00000411584, ENST00000417872, ENST00000424318, ENST00000453813, ENST00000472290, ENST00000478147
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH12389  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37227,746,280 - 27,746,460UniSTSGRCh37
Build 36227,599,784 - 27,599,964RGDNCBI36
Celera227,592,457 - 27,592,637RGD
Cytogenetic Map2p23UniSTS
HuRef227,488,163 - 27,488,343UniSTS
GeneMap99-GB4 RH Map297.89UniSTS
NCBI RH Map2175.5UniSTS
SHGC-35430  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37227,746,306 - 27,746,505UniSTSGRCh37
Build 36227,599,810 - 27,600,009RGDNCBI36
Celera227,592,483 - 27,592,682RGD
Cytogenetic Map2p23UniSTS
HuRef227,488,189 - 27,488,388UniSTS
TNG Radiation Hybrid Map219979.0UniSTS
Stanford-G3 RH Map21216.0UniSTS
GeneMap99-GB4 RH Map297.79UniSTS
Whitehead-RH Map2146.6UniSTS
GeneMap99-G3 RH Map21211.0UniSTS
SHGC-145328  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37227,725,385 - 27,725,665UniSTSGRCh37
Build 36227,578,889 - 27,579,169RGDNCBI36
Celera227,571,560 - 27,571,840RGD
Cytogenetic Map2p23UniSTS
HuRef227,467,274 - 27,467,554UniSTS
TNG Radiation Hybrid Map219925.0UniSTS


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 79 4 516 417 11 417 1 3 194 10 2
Low 638 1185 589 98 380 36 1413 306 1723 89 809 474 68 986 675
Below cutoff 1610 1614 581 99 904 8 2764 1696 1957 219 364 984 97 216 2023 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC074117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY320034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD368544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA011063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y09592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y09593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z48475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z48476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000264717   ⟹   ENSP00000264717
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl227,496,839 - 27,523,684 (+)Ensembl
RefSeq Acc Id: ENST00000411584   ⟹   ENSP00000416917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl227,506,510 - 27,509,791 (+)Ensembl
RefSeq Acc Id: ENST00000417872   ⟹   ENSP00000398303
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl227,496,848 - 27,501,163 (+)Ensembl
RefSeq Acc Id: ENST00000453813   ⟹   ENSP00000399463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl227,497,268 - 27,501,830 (+)Ensembl
RefSeq Acc Id: ENST00000472290
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl227,496,883 - 27,506,891 (+)Ensembl
RefSeq Acc Id: ENST00000478147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl227,507,341 - 27,508,211 (+)Ensembl
RefSeq Acc Id: NM_001486   ⟹   NP_001477
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,496,839 - 27,523,684 (+)NCBI
GRCh37227,719,470 - 27,746,556 (+)NCBI
Build 36227,573,210 - 27,600,055 (+)NCBI Archive
HuRef227,461,595 - 27,488,434 (+)ENTREZGENE
CHM1_1227,649,617 - 27,676,462 (+)NCBI
T2T-CHM13v2.0227,539,204 - 27,566,046 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011532763   ⟹   XP_011531065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,496,839 - 27,507,771 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017003796   ⟹   XP_016859285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,498,760 - 27,523,684 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017003797   ⟹   XP_016859286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,500,031 - 27,523,684 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054341356   ⟹   XP_054197331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0227,541,125 - 27,566,046 (+)NCBI
RefSeq Acc Id: XM_054341357   ⟹   XP_054197332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0227,542,396 - 27,566,046 (+)NCBI
RefSeq Acc Id: XM_054341358   ⟹   XP_054197333
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0227,539,204 - 27,550,137 (+)NCBI
RefSeq Acc Id: XR_001738699
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,496,839 - 27,508,068 (+)NCBI
Sequence:
RefSeq Acc Id: XR_008486322
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0227,539,204 - 27,550,434 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001477   ⟸   NM_001486
- UniProtKB: Q99522 (UniProtKB/Swiss-Prot),   Q53RY6 (UniProtKB/Swiss-Prot),   B4DPQ2 (UniProtKB/Swiss-Prot),   A1L4C2 (UniProtKB/Swiss-Prot),   Q14397 (UniProtKB/Swiss-Prot),   A0A0C4DFN2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011531065   ⟸   XM_011532763
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016859285   ⟸   XM_017003796
- Peptide Label: isoform X1
- UniProtKB: B4E1D0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016859286   ⟸   XM_017003797
- Peptide Label: isoform X1
- UniProtKB: B4E1D0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000416917   ⟸   ENST00000411584
RefSeq Acc Id: ENSP00000399463   ⟸   ENST00000453813
RefSeq Acc Id: ENSP00000398303   ⟸   ENST00000417872
RefSeq Acc Id: ENSP00000264717   ⟸   ENST00000264717
RefSeq Acc Id: XP_054197333   ⟸   XM_054341358
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054197331   ⟸   XM_054341356
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054197332   ⟸   XM_054341357
- Peptide Label: isoform X1
Protein Domains
SIS

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q14397-F1-model_v2 AlphaFold Q14397 1-625 view protein structure

Promoters
RGD ID:6859940
Promoter ID:EPDNEW_H3135
Type:initiation region
Name:GCKR_2
Description:glucokinase regulator
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3137  EPDNEW_H3138  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,494,406 - 27,494,466EPDNEW
RGD ID:6859944
Promoter ID:EPDNEW_H3137
Type:initiation region
Name:GCKR_3
Description:glucokinase regulator
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3135  EPDNEW_H3138  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,496,531 - 27,496,591EPDNEW
RGD ID:6859946
Promoter ID:EPDNEW_H3138
Type:initiation region
Name:GCKR_1
Description:glucokinase regulator
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3135  EPDNEW_H3137  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,496,839 - 27,496,899EPDNEW
RGD ID:6797507
Promoter ID:HG_KWN:31974
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000250214,   OTTHUMT00000324524,   OTTHUMT00000324525,   OTTHUMT00000324526,   UC010EZD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36227,572,956 - 27,573,456 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4196 AgrOrtholog
COSMIC GCKR COSMIC
Ensembl Genes ENSG00000084734 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000264717 ENTREZGENE
  ENST00000264717.7 UniProtKB/TrEMBL
  ENST00000411584.1 UniProtKB/TrEMBL
  ENST00000453813.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.8.1080 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.12620 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000084734 GTEx
HGNC ID HGNC:4196 ENTREZGENE
Human Proteome Map GCKR Human Proteome Map
InterPro Glucokinase_regulatory_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MURQ/GCKR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SIS_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2646 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2646 ENTREZGENE
OMIM 600842 OMIM
PANTHER GLUCOKINASE REGULATORY PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10088 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam GKRP-like_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB GCKR RGD, PharmGKB
PROSITE GCKR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53697 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0C4DFN2 ENTREZGENE, UniProtKB/TrEMBL
  A1L4C2 ENTREZGENE
  B4DPQ2 ENTREZGENE
  B4E1D0 ENTREZGENE, UniProtKB/TrEMBL
  GCKR_HUMAN UniProtKB/Swiss-Prot
  H7C1B4_HUMAN UniProtKB/TrEMBL
  H7C4D3_HUMAN UniProtKB/TrEMBL
  Q14397 ENTREZGENE
  Q53RY6 ENTREZGENE
  Q99522 ENTREZGENE
UniProt Secondary A1L4C2 UniProtKB/Swiss-Prot
  B4DPQ2 UniProtKB/Swiss-Prot
  Q53RY6 UniProtKB/Swiss-Prot
  Q99522 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-08-09 GCKR  glucokinase regulator  GCKR  glucokinase (hexokinase 4) regulator  Symbol and/or name change 5135510 APPROVED