CGREF1 (cell growth regulator with EF-hand domain 1) - Rat Genome Database

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Gene: CGREF1 (cell growth regulator with EF-hand domain 1) Homo sapiens
Analyze
Symbol: CGREF1
Name: cell growth regulator with EF-hand domain 1
RGD ID: 1353373
HGNC Page HGNC:16962
Description: Predicted to enable calcium ion binding activity. Predicted to be involved in negative regulation of cell population proliferation. Predicted to be located in extracellular region.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: cell growth regulator with EF hand domain 1; cell growth regulator with EF hand domain protein 1; cell growth regulatory gene 11 protein; CGR11; hydrophobestin
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
GRCh38227,099,353 - 27,119,128 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl227,098,889 - 27,119,128 (-)EnsemblGRCh38hg38GRCh38
GRCh37227,322,221 - 27,341,996 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36227,176,973 - 27,195,475 (-)NCBINCBI36Build 36hg18NCBI36
Build 34227,235,119 - 27,253,622NCBI
Celera227,168,567 - 27,188,302 (-)NCBICelera
Cytogenetic Map2p23.3NCBI
HuRef227,064,526 - 27,084,159 (-)NCBIHuRef
CHM1_1227,252,137 - 27,271,942 (-)NCBICHM1_1
T2T-CHM13v2.0227,141,029 - 27,160,791 (-)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
(S)-nicotine  (EXP)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-nitrofluorene  (ISO)
2-palmitoylglycerol  (EXP)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-hydroxyphenyl retinamide  (ISO)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
alachlor  (ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (ISO)
bortezomib  (EXP)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
carmustine  (ISO)
chlorpromazine  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP,ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
deoxynivalenol  (EXP)
dextran sulfate  (ISO)
diazinon  (ISO)
dibenz[a,h]anthracene  (ISO)
diclofenac  (ISO)
diethylstilbestrol  (ISO)
dimethyl sulfoxide  (EXP)
dioxygen  (ISO)
endosulfan  (ISO)
entinostat  (EXP)
etoposide  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
furan  (ISO)
hydrogen peroxide  (EXP)
inulin  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
lead(0)  (EXP)
manganese(II) chloride  (ISO)
methapyrilene  (EXP,ISO)
methotrexate  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nicotine  (EXP)
orphenadrine  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
propiconazole  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
sunitinib  (EXP)
tebuconazole  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
tioguanine  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
triptonide  (ISO)
tunicamycin  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Induction of cell growth regulatory genes by p53. Madden SL, etal., Cancer Res 1996 Dec 1;56(23):5384-90.
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:12477932   PMID:16341674   PMID:16344560   PMID:18854154   PMID:19913121   PMID:20628086   PMID:24483146   PMID:26022276   PMID:26760575   PMID:31527615   PMID:32296183  
PMID:33961781   PMID:35156780   PMID:35696571  


Genomics

Comparative Map Data
CGREF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38227,099,353 - 27,119,128 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl227,098,889 - 27,119,128 (-)EnsemblGRCh38hg38GRCh38
GRCh37227,322,221 - 27,341,996 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36227,176,973 - 27,195,475 (-)NCBINCBI36Build 36hg18NCBI36
Build 34227,235,119 - 27,253,622NCBI
Celera227,168,567 - 27,188,302 (-)NCBICelera
Cytogenetic Map2p23.3NCBI
HuRef227,064,526 - 27,084,159 (-)NCBIHuRef
CHM1_1227,252,137 - 27,271,942 (-)NCBICHM1_1
T2T-CHM13v2.0227,141,029 - 27,160,791 (-)NCBIT2T-CHM13v2.0
Cgref1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39531,090,487 - 31,102,771 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl531,090,487 - 31,102,935 (-)EnsemblGRCm39 Ensembl
GRCm38530,933,143 - 30,945,480 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl530,933,143 - 30,945,591 (-)EnsemblGRCm38mm10GRCm38
MGSCv37531,235,516 - 31,247,853 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36531,209,724 - 31,222,166 (-)NCBIMGSCv36mm8
Celera528,412,941 - 28,425,273 (-)NCBICelera
Cytogenetic Map5B1NCBI
cM Map516.9NCBI
Cgref1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8631,151,795 - 31,163,801 (+)NCBIGRCr8
mRatBN7.2625,431,846 - 25,443,853 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl625,431,799 - 25,443,852 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx625,732,163 - 25,744,167 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0626,048,027 - 26,060,031 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0625,527,201 - 25,539,214 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0626,797,126 - 26,809,132 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl626,797,126 - 26,809,129 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0636,612,741 - 36,624,747 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4625,414,812 - 25,426,818 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1625,417,842 - 25,429,770 (+)NCBI
Celera624,922,567 - 24,934,501 (+)NCBICelera
RH 3.4 Map6119.2RGD
Cytogenetic Map6q14NCBI
Cgref1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554699,072,563 - 9,086,615 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554699,072,333 - 9,086,427 (-)NCBIChiLan1.0ChiLan1.0
CGREF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21299,396,407 - 99,415,823 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A99,400,376 - 99,419,791 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A27,098,387 - 27,118,129 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A27,189,151 - 27,207,263 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A27,188,352 - 27,199,407 (-)Ensemblpanpan1.1panPan2
CGREF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11721,093,664 - 21,106,797 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1720,985,489 - 20,998,849 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01721,414,345 - 21,427,720 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1721,413,017 - 21,427,705 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11721,101,095 - 21,114,500 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01721,112,197 - 21,125,293 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01721,159,031 - 21,161,865 (-)NCBIUU_Cfam_GSD_1.0
Cgref1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629265,395,880 - 65,410,272 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364935,429,131 - 5,442,965 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364935,429,397 - 5,444,219 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CGREF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.13112,006,596 - 112,020,211 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23119,000,618 - 119,018,207 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CGREF1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11480,500,056 - 80,516,893 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1480,513,701 - 80,516,698 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604531,622,380 - 31,639,353 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cgref1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247389,203,367 - 9,216,309 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247389,203,367 - 9,216,485 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CGREF1
57 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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
GRCh38/hg38 2p23.3(chr2:25759602-27297636)x3 copy number gain See cases [RCV000052629] Chr2:25759602..27297636 [GRCh38]
Chr2:25982471..27520504 [GRCh37]
Chr2:25835975..27374008 [NCBI36]
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 2p23.3(chr2:25064306-27154398)x1 copy number loss See cases [RCV000137065] Chr2:25064306..27154398 [GRCh38]
Chr2:25287175..27377266 [GRCh37]
Chr2:25140679..27230770 [NCBI36]
Chr2:2p23.3		 uncertain significance
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
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_006488.3(KHK):c.*49C>T single nucleotide variant Essential fructosuria [RCV000261225] Chr2:27099799 [GRCh38]
Chr2:27322667 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_006488.3(KHK):c.*540G>C single nucleotide variant Essential fructosuria [RCV000283938] Chr2:27100290 [GRCh38]
Chr2:27323158 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_006488.3(KHK):c.*767C>T single nucleotide variant Essential fructosuria [RCV000299167] Chr2:27100517 [GRCh38]
Chr2:27323385 [GRCh37]
Chr2:2p23.3		 benign
NM_006488.3(KHK):c.*52C>T single nucleotide variant Essential fructosuria [RCV000332670] Chr2:27099802 [GRCh38]
Chr2:27322670 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_006488.3(KHK):c.*810A>C single nucleotide variant Essential fructosuria [RCV000300128] Chr2:27100560 [GRCh38]
Chr2:27323428 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_006488.3(KHK):c.*28T>C single nucleotide variant Essential fructosuria [RCV000353722] Chr2:27099778 [GRCh38]
Chr2:27322646 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_006488.3(KHK):c.818G>A (p.Ser273Asn) single nucleotide variant Essential fructosuria [RCV000302305] Chr2:27099671 [GRCh38]
Chr2:27322539 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_006488.3(KHK):c.*27A>G single nucleotide variant Essential fructosuria [RCV000319673] Chr2:27099777 [GRCh38]
Chr2:27322645 [GRCh37]
Chr2:2p23.3		 likely benign|uncertain significance
NM_006488.3(KHK):c.*580T>C single nucleotide variant Essential fructosuria [RCV000338970] Chr2:27100330 [GRCh38]
Chr2:27323198 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_006488.3(KHK):c.820G>A (p.Val274Met) single nucleotide variant Essential fructosuria [RCV000359429] Chr2:27099673 [GRCh38]
Chr2:27322541 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_006488.3(KHK):c.*505G>A single nucleotide variant Essential fructosuria [RCV000382894] Chr2:27100255 [GRCh38]
Chr2:27323123 [GRCh37]
Chr2:2p23.3		 benign|uncertain significance
NM_006488.3(KHK):c.*806G>A single nucleotide variant Essential fructosuria [RCV000404967] Chr2:27100556 [GRCh38]
Chr2:27323424 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_006488.3(KHK):c.*754T>C single nucleotide variant Essential fructosuria [RCV000405925] Chr2:27100504 [GRCh38]
Chr2:27323372 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_006488.3(KHK):c.*200A>G single nucleotide variant Essential fructosuria [RCV000383972] Chr2:27099950 [GRCh38]
Chr2:27322818 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_006488.3(KHK):c.*326G>A single nucleotide variant Essential fructosuria [RCV000291972] Chr2:27100076 [GRCh38]
Chr2:27322944 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_006488.3(KHK):c.*469G>A single nucleotide variant Essential fructosuria [RCV000344603] Chr2:27100219 [GRCh38]
Chr2:27323087 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_006488.3(KHK):c.*79G>A single nucleotide variant Essential fructosuria [RCV000389573] Chr2:27099829 [GRCh38]
Chr2:27322697 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_006488.3(KHK):c.790G>A (p.Val264Ile) single nucleotide variant Essential fructosuria [RCV000396011]|not provided [RCV000949479] Chr2:27099556 [GRCh38]
Chr2:27322424 [GRCh37]
Chr2:2p23.3		 likely benign|uncertain significance
NM_006488.3(KHK):c.*20AC[2] microsatellite Essential fructosuria [RCV000262199] Chr2:27099769..27099770 [GRCh38]
Chr2:27322637..27322638 [GRCh37]
Chr2:2p23.3		 likely benign
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_006488.3(KHK):c.*159G>A single nucleotide variant Essential fructosuria [RCV000293066] Chr2:27099909 [GRCh38]
Chr2:27322777 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_006488.3(KHK):c.*198A>C single nucleotide variant Essential fructosuria [RCV000331673] Chr2:27099948 [GRCh38]
Chr2:27322816 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_006488.3(KHK):c.*791G>A single nucleotide variant Essential fructosuria [RCV000335323] Chr2:27100541 [GRCh38]
Chr2:27323409 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_006569.6(CGREF1):c.*515A>C single nucleotide variant Essential fructosuria [RCV000395923] Chr2:27100759 [GRCh38]
Chr2:27323627 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_006488.3(KHK):c.680AGG[1] (p.Glu228del) microsatellite Essential fructosuria [RCV000360209] Chr2:27099445..27099447 [GRCh38]
Chr2:27322313..27322315 [GRCh37]
Chr2:2p23.3		 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_006569.6(CGREF1):c.428C>T (p.Pro143Leu) single nucleotide variant Inborn genetic diseases [RCV003283537] Chr2:27101803 [GRCh38]
Chr2:27324671 [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
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_006488.3(KHK):c.879C>A (p.Gly293=) single nucleotide variant Essential fructosuria [RCV001139665]|not provided [RCV000883634] Chr2:27099732 [GRCh38]
Chr2:27322600 [GRCh37]
Chr2:2p23.3		 benign
NM_006488.3(KHK):c.654-9G>A single nucleotide variant not provided [RCV000903025] Chr2:27099411 [GRCh38]
Chr2:27322279 [GRCh37]
Chr2:2p23.3		 benign
GRCh37/hg19 2p23.3(chr2:27311743-27362371)x1 copy number loss not provided [RCV000848093] Chr2:27311743..27362371 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_006569.6(CGREF1):c.*628A>C single nucleotide variant Essential fructosuria [RCV001137549] Chr2:27100646 [GRCh38]
Chr2:27323514 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_006488.3(KHK):c.698T>G (p.Leu233Arg) single nucleotide variant Essential fructosuria [RCV001137446] Chr2:27099464 [GRCh38]
Chr2:27322332 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_006488.3(KHK):c.866G>A (p.Cys289Tyr) single nucleotide variant Essential fructosuria [RCV001139664] Chr2:27099719 [GRCh38]
Chr2:27322587 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_006569.6(CGREF1):c.*516C>T single nucleotide variant Essential fructosuria [RCV001139774] Chr2:27100758 [GRCh38]
Chr2:27323626 [GRCh37]
Chr2:2p23.3		 benign
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_006488.3(KHK):c.*214G>A single nucleotide variant Essential fructosuria [RCV001140432] Chr2:27099964 [GRCh38]
Chr2:27322832 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_006488.3(KHK):c.*623G>A single nucleotide variant Essential fructosuria [RCV001142292] Chr2:27100373 [GRCh38]
Chr2:27323241 [GRCh37]
Chr2:2p23.3		 likely benign
NM_006488.3(KHK):c.*596C>T single nucleotide variant Essential fructosuria [RCV001142291] Chr2:27100346 [GRCh38]
Chr2:27323214 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_006488.3(KHK):c.688G>A (p.Ala230Thr) single nucleotide variant Essential fructosuria [RCV001137445]|Inborn genetic diseases [RCV002556925] Chr2:27099454 [GRCh38]
Chr2:27322322 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_006488.3(KHK):c.826G>A (p.Glu276Lys) single nucleotide variant Essential fructosuria [RCV001137448] Chr2:27099679 [GRCh38]
Chr2:27322547 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_006488.3(KHK):c.*739G>C single nucleotide variant Essential fructosuria [RCV001142293] Chr2:27100489 [GRCh38]
Chr2:27323357 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_006488.3(KHK):c.885T>C (p.Asp295=) single nucleotide variant Essential fructosuria [RCV001139666] Chr2:27099738 [GRCh38]
Chr2:27322606 [GRCh37]
Chr2:2p23.3		 likely benign
NM_006488.3(KHK):c.*11C>T single nucleotide variant Essential fructosuria [RCV001139667] Chr2:27099761 [GRCh38]
Chr2:27322629 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_006488.3(KHK):c.*176G>A single nucleotide variant Essential fructosuria [RCV001140431] Chr2:27099926 [GRCh38]
Chr2:27322794 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_006488.3(KHK):c.687C>T (p.Gly229=) single nucleotide variant Essential fructosuria [RCV001137444] Chr2:27099453 [GRCh38]
Chr2:27322321 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_006488.3(KHK):c.811+5G>C single nucleotide variant Essential fructosuria [RCV001137447]|KHK-related condition [RCV003906251] Chr2:27099582 [GRCh38]
Chr2:27322450 [GRCh37]
Chr2:2p23.3		 benign
NM_006488.3(KHK):c.*554C>T single nucleotide variant Essential fructosuria [RCV001142290] Chr2:27100304 [GRCh38]
Chr2:27323172 [GRCh37]
Chr2:2p23.3		 benign
NM_006569.6(CGREF1):c.*570G>A single nucleotide variant Essential fructosuria [RCV001139773] Chr2:27100704 [GRCh38]
Chr2:27323572 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_006488.3(KHK):c.*259T>G single nucleotide variant Essential fructosuria [RCV001140433] Chr2:27100009 [GRCh38]
Chr2:27322877 [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
GRCh37/hg19 2p23.3(chr2:26860458-27346266)x1 copy number loss Ritscher-Schinzel syndrome 4 [RCV001801216] Chr2:26860458..27346266 [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
NC_000002.11:g.(?_27275827)_(27457573_?)dup duplication not provided [RCV003109836] Chr2:27275827..27457573 [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
NC_000002.11:g.(?_24443763)_(30143525_?)dup duplication not provided [RCV003113441] Chr2:24443763..30143525 [GRCh37]
Chr2:2p23.3-23.1		 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
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_006569.6(CGREF1):c.452A>G (p.Glu151Gly) single nucleotide variant Inborn genetic diseases [RCV003264762] Chr2:27101779 [GRCh38]
Chr2:27324647 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_006569.6(CGREF1):c.883G>A (p.Glu295Lys) single nucleotide variant Inborn genetic diseases [RCV003264763] Chr2:27101348 [GRCh38]
Chr2:27324216 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_006488.3(KHK):c.*53G>A single nucleotide variant Inborn genetic diseases [RCV002945204] Chr2:27099803 [GRCh38]
Chr2:27322671 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_006569.6(CGREF1):c.931G>A (p.Val311Ile) single nucleotide variant Inborn genetic diseases [RCV002911604] Chr2:27101300 [GRCh38]
Chr2:27324168 [GRCh37]
Chr2:2p23.3		 likely benign
NM_006569.6(CGREF1):c.418A>C (p.Ile140Leu) single nucleotide variant Inborn genetic diseases [RCV002758396] Chr2:27101813 [GRCh38]
Chr2:27324681 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_006569.6(CGREF1):c.136G>A (p.Glu46Lys) single nucleotide variant Inborn genetic diseases [RCV002737566] Chr2:27102536 [GRCh38]
Chr2:27325404 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_006569.6(CGREF1):c.653T>A (p.Val218Asp) single nucleotide variant Inborn genetic diseases [RCV002768630] Chr2:27101578 [GRCh38]
Chr2:27324446 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_006569.6(CGREF1):c.370G>C (p.Glu124Gln) single nucleotide variant Inborn genetic diseases [RCV002964932] Chr2:27101861 [GRCh38]
Chr2:27324729 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_006488.3(KHK):c.683A>T (p.Glu228Val) single nucleotide variant Inborn genetic diseases [RCV002657215] Chr2:27099449 [GRCh38]
Chr2:27322317 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_006488.3(KHK):c.748G>A (p.Val250Met) single nucleotide variant Inborn genetic diseases [RCV003198293] Chr2:27099514 [GRCh38]
Chr2:27322382 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p23.3(chr2:27319597-27459379)x3 copy number gain not specified [RCV003986322] Chr2:27319597..27459379 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_006488.3(KHK):c.817A>G (p.Ser273Gly) single nucleotide variant KHK-related condition [RCV003929708] Chr2:27099670 [GRCh38]
Chr2:27322538 [GRCh37]
Chr2:2p23.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3595
Count of miRNA genes:848
Interacting mature miRNAs:994
Transcripts:ENST00000260595, ENST00000312734, ENST00000402394, ENST00000402550, ENST00000404694, ENST00000405600, ENST00000440612, ENST00000452318, ENST00000467539
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
RH70916  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37227,323,262 - 27,323,461UniSTSGRCh37
Build 36227,176,766 - 27,176,965RGDNCBI36
Celera227,169,608 - 27,169,807RGD
Cytogenetic Map2p23.3UniSTS
HuRef227,065,567 - 27,065,766UniSTS
GeneMap99-GB4 RH Map297.89UniSTS
NCBI RH Map2175.5UniSTS
STS-Z41432  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37227,323,489 - 27,323,565UniSTSGRCh37
Build 36227,176,993 - 27,177,069RGDNCBI36
Celera227,169,835 - 27,169,911RGD
Cytogenetic Map2p23.3UniSTS
HuRef227,065,794 - 27,065,870UniSTS
GeneMap99-GB4 RH Map297.79UniSTS
NCBI RH Map2167.7UniSTS
RH12103  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37227,323,996 - 27,324,126UniSTSGRCh37
Build 36227,177,500 - 27,177,630RGDNCBI36
Celera227,170,342 - 27,170,472RGD
Cytogenetic Map2p23.3UniSTS
HuRef227,066,301 - 27,066,431UniSTS
GeneMap99-GB4 RH Map297.79UniSTS
NCBI RH Map2167.9UniSTS
G19822  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37227,323,569 - 27,323,677UniSTSGRCh37
Build 36227,177,073 - 27,177,181RGDNCBI36
Celera227,169,915 - 27,170,023RGD
Cytogenetic Map2p23.3UniSTS
HuRef227,065,874 - 27,065,982UniSTS
A001Z30  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37227,323,569 - 27,323,677UniSTSGRCh37
Build 36227,177,073 - 27,177,181RGDNCBI36
Celera227,169,915 - 27,170,023RGD
Cytogenetic Map2p23.3UniSTS
HuRef227,065,874 - 27,065,982UniSTS
GeneMap99-GB4 RH Map297.79UniSTS
NCBI RH Map2167.9UniSTS
STS-AA027947  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37227,324,967 - 27,325,450UniSTSGRCh37
Build 36227,178,471 - 27,178,954RGDNCBI36
Celera227,171,262 - 27,171,745RGD
Cytogenetic Map2p23.3UniSTS
HuRef227,067,221 - 27,067,704UniSTS
NCBI RH Map2163.1UniSTS
D2S2614  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37227,323,403 - 27,323,536UniSTSGRCh37
Build 36227,176,907 - 27,177,040RGDNCBI36
Celera227,169,749 - 27,169,882RGD
Cytogenetic Map2p23.3UniSTS
HuRef227,065,708 - 27,065,841UniSTS
GeneMap99-GB4 RH Map298.49UniSTS
Whitehead-RH Map2159.8UniSTS
SHGC-12022  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37227,322,834 - 27,322,927UniSTSGRCh37
Build 36227,176,338 - 27,176,431RGDNCBI36
Celera227,169,180 - 27,169,273RGD
Cytogenetic Map2p23.3UniSTS
HuRef227,065,139 - 27,065,232UniSTS
TNG Radiation Hybrid Map219789.0UniSTS
Stanford-G3 RH Map21125.0UniSTS
GeneMap99-G3 RH Map21120.0UniSTS
RH70696  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2p23.3UniSTS
GeneMap99-GB4 RH Map297.59UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 119 51 89 155 25 84 102 40 1950 91 338 103 73 25 30
Low 1613 1720 1449 456 573 368 4063 1248 1766 239 1035 1138 94 1 1167 2605 1 2
Below cutoff 702 1129 180 13 1162 13 190 904 12 57 78 351 6 12 153 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001166239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001166240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001301324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC013403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI870942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL536349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM716977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM849276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX419588 (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
  DB056279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U66468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000260595   ⟹   ENSP00000260595
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl227,101,079 - 27,118,910 (-)Ensembl
RefSeq Acc Id: ENST00000312734   ⟹   ENSP00000324025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl227,101,113 - 27,119,030 (-)Ensembl
RefSeq Acc Id: ENST00000402394   ⟹   ENSP00000385452
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl227,100,594 - 27,119,128 (-)Ensembl
RefSeq Acc Id: ENST00000402550   ⟹   ENSP00000385103
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl227,098,889 - 27,119,115 (-)Ensembl
RefSeq Acc Id: ENST00000404694   ⟹   ENSP00000385574
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl227,101,226 - 27,104,737 (-)Ensembl
RefSeq Acc Id: ENST00000405600   ⟹   ENSP00000386113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl227,101,027 - 27,118,905 (-)Ensembl
RefSeq Acc Id: ENST00000440612   ⟹   ENSP00000394306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl227,098,889 - 27,119,097 (-)Ensembl
RefSeq Acc Id: ENST00000467539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl227,102,117 - 27,104,359 (-)Ensembl
RefSeq Acc Id: ENST00000640154   ⟹   ENSP00000491464
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl227,099,353 - 27,102,591 (-)Ensembl
RefSeq Acc Id: NM_001166239   ⟹   NP_001159711
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,100,594 - 27,119,128 (-)NCBI
GRCh37227,322,159 - 27,341,995 (-)NCBI
Celera227,168,567 - 27,188,302 (-)RGD
HuRef227,064,526 - 27,084,159 (-)RGD
CHM1_1227,253,378 - 27,271,720 (-)NCBI
T2T-CHM13v2.0227,142,270 - 27,160,791 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001166240   ⟹   NP_001159712
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,099,353 - 27,119,128 (-)NCBI
GRCh37227,322,159 - 27,341,995 (-)NCBI
Celera227,168,567 - 27,188,302 (-)RGD
HuRef227,064,526 - 27,084,159 (-)RGD
CHM1_1227,252,137 - 27,271,942 (-)NCBI
T2T-CHM13v2.0227,141,029 - 27,160,791 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001301324   ⟹   NP_001288253
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,099,353 - 27,119,128 (-)NCBI
CHM1_1227,252,137 - 27,271,942 (-)NCBI
T2T-CHM13v2.0227,141,029 - 27,160,791 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006569   ⟹   NP_006560
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,100,594 - 27,119,128 (-)NCBI
GRCh37227,322,159 - 27,341,995 (-)NCBI
Build 36227,176,973 - 27,195,475 (-)NCBI Archive
Celera227,168,567 - 27,188,302 (-)RGD
HuRef227,064,526 - 27,084,159 (-)RGD
CHM1_1227,253,378 - 27,271,942 (-)NCBI
T2T-CHM13v2.0227,142,270 - 27,160,791 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001159712   ⟸   NM_001166240
- Peptide Label: isoform b precursor
- UniProtKB: Q99674 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_006560   ⟸   NM_006569
- Peptide Label: isoform a precursor
- UniProtKB: E7EU99 (UniProtKB/Swiss-Prot),   B5MCP5 (UniProtKB/Swiss-Prot),   B5MCC9 (UniProtKB/Swiss-Prot),   B5MCB7 (UniProtKB/Swiss-Prot),   B4DXY8 (UniProtKB/Swiss-Prot),   A6NHV7 (UniProtKB/Swiss-Prot),   Q8N4B7 (UniProtKB/Swiss-Prot),   Q99674 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001159711   ⟸   NM_001166239
- Peptide Label: isoform a precursor
- UniProtKB: E7EU99 (UniProtKB/Swiss-Prot),   B5MCP5 (UniProtKB/Swiss-Prot),   B5MCC9 (UniProtKB/Swiss-Prot),   B5MCB7 (UniProtKB/Swiss-Prot),   B4DXY8 (UniProtKB/Swiss-Prot),   A6NHV7 (UniProtKB/Swiss-Prot),   Q8N4B7 (UniProtKB/Swiss-Prot),   Q99674 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001288253   ⟸   NM_001301324
- Peptide Label: isoform d
- UniProtKB: Q99674 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000394306   ⟸   ENST00000440612
RefSeq Acc Id: ENSP00000385452   ⟸   ENST00000402394
RefSeq Acc Id: ENSP00000385103   ⟸   ENST00000402550
RefSeq Acc Id: ENSP00000385574   ⟸   ENST00000404694
RefSeq Acc Id: ENSP00000324025   ⟸   ENST00000312734
RefSeq Acc Id: ENSP00000491464   ⟸   ENST00000640154
RefSeq Acc Id: ENSP00000386113   ⟸   ENST00000405600
RefSeq Acc Id: ENSP00000260595   ⟸   ENST00000260595
Protein Domains
EF-hand

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q99674-F1-model_v2 AlphaFold Q99674 1-318 view protein structure

Promoters
RGD ID:6797254
Promoter ID:HG_KWN:31907
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:ENST00000260595,   ENST00000312734,   ENST00000389521,   ENST00000402550,   NM_001166239,   NM_006569,   UC002RIP.1,   UC002RIR.1,   UC002RIS.1,   UC010EYS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36227,195,306 - 27,195,806 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16962 AgrOrtholog
COSMIC CGREF1 COSMIC
Ensembl Genes ENSG00000138028 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000312734.8 UniProtKB/Swiss-Prot
  ENST00000402394 ENTREZGENE
  ENST00000402394.6 UniProtKB/Swiss-Prot
  ENST00000402550 ENTREZGENE
  ENST00000402550.5 UniProtKB/Swiss-Prot
  ENST00000404694.3 UniProtKB/TrEMBL
  ENST00000405600 ENTREZGENE
  ENST00000405600.5 UniProtKB/Swiss-Prot
  ENST00000440612.5 UniProtKB/TrEMBL
  ENST00000640154.2 UniProtKB/TrEMBL
Gene3D-CATH EF-hand UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000138028 GTEx
HGNC ID HGNC:16962 ENTREZGENE
Human Proteome Map CGREF1 Human Proteome Map
InterPro EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_Hand_1_Ca_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_hand_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10669 UniProtKB/Swiss-Prot
NCBI Gene 10669 ENTREZGENE
OMIM 606137 OMIM
PANTHER CELL GROWTH REGULATOR WITH EF HAND DOMAIN PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MULTIPLE COAGULATION FACTOR DEFICIENCY PROTEIN 2 NEURAL STEM CELL DERIVED NEURONAL SURVIVAL PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134984105 PharmGKB
PROSITE EF_HAND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A4W8W4R1_HUMAN UniProtKB/TrEMBL
  A0AA75LQY6_HUMAN UniProtKB/TrEMBL
  A6NHV7 ENTREZGENE
  B4DXY8 ENTREZGENE
  B5MCB7 ENTREZGENE
  B5MCC9 ENTREZGENE
  B5MCP5 ENTREZGENE
  CGRE1_HUMAN UniProtKB/Swiss-Prot
  E7EU99 ENTREZGENE
  F8WE80_HUMAN UniProtKB/TrEMBL
  Q8N4B7 ENTREZGENE
  Q99674 ENTREZGENE
UniProt Secondary A6NHV7 UniProtKB/Swiss-Prot
  B4DXY8 UniProtKB/Swiss-Prot
  B5MCB7 UniProtKB/Swiss-Prot
  B5MCC9 UniProtKB/Swiss-Prot
  B5MCP5 UniProtKB/Swiss-Prot
  E7EU99 UniProtKB/Swiss-Prot
  Q8N4B7 UniProtKB/Swiss-Prot