GRID2 (glutamate ionotropic receptor delta type subunit 2) - Rat Genome Database

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Gene: GRID2 (glutamate ionotropic receptor delta type subunit 2) Homo sapiens
Analyze
Symbol: GRID2
Name: glutamate ionotropic receptor delta type subunit 2
RGD ID: 68527
HGNC Page HGNC
Description: Predicted to enable several functions, including PDZ domain binding activity; scaffold protein binding activity; and transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential. Involved in excitatory synapse assembly; positive regulation of long-term synaptic depression; and positive regulation of synapse assembly. Predicted to be located in dendritic spine and membrane. Predicted to be part of ionotropic glutamate receptor complex. Predicted to be active in glutamatergic synapse; parallel fiber to Purkinje cell synapse; and postsynaptic membrane. Predicted to be integral component of postsynaptic density membrane. Implicated in autosomal recessive spinocerebellar ataxia 18.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: GluD2; gluR delta-2 subunit; GluR-delta-2; glutamate receptor delta-2 subunit; glutamate receptor ionotropic, delta-2; glutamate receptor, ionotropic, delta 2; MGC117022; MGC117023; MGC117024; SCAR18
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl492,303,966 - 93,810,157 (+)EnsemblGRCh38hg38GRCh38
GRCh38492,303,622 - 93,810,415 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37493,225,117 - 94,695,717 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36493,444,573 - 94,912,672 (+)NCBINCBI36hg18NCBI36
Build 34493,582,985 - 95,050,827NCBI
Celera490,516,237 - 91,989,747 (+)NCBI
Cytogenetic Map4q22.1-q22.2NCBI
HuRef488,967,871 - 90,430,993 (+)NCBIHuRef
CHM1_1493,202,022 - 94,670,166 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:7506541   PMID:9465309   PMID:9847074   PMID:10234023   PMID:10748123   PMID:11826110   PMID:11829466   PMID:12372286   PMID:12477932   PMID:12573530   PMID:12589829   PMID:14572453  
PMID:17027646   PMID:18256267   PMID:20301317   PMID:20301682   PMID:20379614   PMID:20487506   PMID:20859245   PMID:21368048   PMID:21873635   PMID:23251661   PMID:23512105   PMID:23611888  
PMID:24078737   PMID:24357660   PMID:25122145   PMID:25146332   PMID:25841024   PMID:26905411   PMID:27019035   PMID:27418511   PMID:29207948   PMID:32065002  


Genomics

Comparative Map Data
GRID2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl492,303,966 - 93,810,157 (+)EnsemblGRCh38hg38GRCh38
GRCh38492,303,622 - 93,810,415 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37493,225,117 - 94,695,717 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36493,444,573 - 94,912,672 (+)NCBINCBI36hg18NCBI36
Build 34493,582,985 - 95,050,827NCBI
Celera490,516,237 - 91,989,747 (+)NCBI
Cytogenetic Map4q22.1-q22.2NCBI
HuRef488,967,871 - 90,430,993 (+)NCBIHuRef
CHM1_1493,202,022 - 94,670,166 (+)NCBICHM1_1
Grid2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39663,230,118 - 64,681,305 (+)NCBIGRCm39mm39
GRCm39 Ensembl663,232,860 - 64,681,307 (+)Ensembl
GRCm38663,256,006 - 64,704,321 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl663,255,876 - 64,704,323 (+)EnsemblGRCm38mm10GRCm38
MGSCv37663,206,851 - 64,616,273 (+)NCBIGRCm37mm9NCBIm37
MGSCv36663,186,435 - 64,595,857 (+)NCBImm8
Celera665,396,130 - 66,793,674 (+)NCBICelera
Cytogenetic Map6C1NCBI
cM Map629.77NCBI
Grid2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2492,415,019 - 93,892,472 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl492,415,230 - 93,889,355 (+)Ensembl
Rnor_6.0494,068,112 - 95,476,864 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl494,696,965 - 95,442,778 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04158,857,267 - 160,262,923 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4492,642,427 - 94,054,757 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1492,886,907 - 94,299,238 (+)NCBI
Celera487,164,582 - 88,604,118 (+)NCBICelera
Cytogenetic Map4q31NCBI
Grid2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554053,344,763 - 4,443,836 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554053,291,793 - 4,411,249 (+)NCBIChiLan1.0ChiLan1.0
GRID2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1495,339,204 - 96,809,804 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl495,339,460 - 96,807,748 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0484,663,030 - 86,170,778 (+)NCBIMhudiblu_PPA_v0panPan3
GRID2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13215,322,256 - 16,787,966 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3215,322,738 - 16,753,656 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3225,156,550 - 26,624,358 (-)NCBI
ROS_Cfam_1.03215,494,314 - 16,970,466 (+)NCBI
UMICH_Zoey_3.13215,474,650 - 16,942,531 (+)NCBI
UNSW_CanFamBas_1.03215,290,434 - 16,758,200 (+)NCBI
UU_Cfam_GSD_1.03223,136,174 - 24,607,929 (-)NCBI
Grid2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530124,925,851 - 26,327,389 (-)NCBI
SpeTri2.0NW_00493668720,126 - 1,421,075 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GRID2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8125,819,951 - 126,434,793 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18125,821,195 - 127,130,617 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28135,414,934 - 135,568,963 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GRID2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1740,585,532 - 42,079,977 (+)NCBIChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603718,927,676 - 20,401,397 (+)NCBIVero_WHO_p1.0
Grid2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475719,967,428 - 21,497,009 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
D4S2364  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37493,517,340 - 93,517,463UniSTSGRCh37
Build 36493,736,363 - 93,736,486RGDNCBI36
Celera490,812,016 - 90,812,139RGD
Cytogenetic Map4q22UniSTS
HuRef489,259,279 - 89,259,402UniSTS
Marshfield Genetic Map4100.75UniSTS
Marshfield Genetic Map4100.75RGD
Stanford-G3 RH Map45382.0UniSTS
Whitehead-YAC Contig Map4 UniSTS
NCBI RH Map41075.0UniSTS
D4S2404  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37493,499,834 - 93,499,964UniSTSGRCh37
Build 36493,718,857 - 93,718,987RGDNCBI36
Celera490,794,507 - 90,794,645RGD
Cytogenetic Map4q22UniSTS
HuRef489,241,804 - 89,241,942UniSTS
Marshfield Genetic Map4100.75RGD
Marshfield Genetic Map4100.75UniSTS
deCODE Assembly Map4100.24UniSTS
Whitehead-YAC Contig Map4 UniSTS
SHGC-50210  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37493,517,418 - 93,517,621UniSTSGRCh37
Build 36493,736,441 - 93,736,644RGDNCBI36
Celera490,812,094 - 90,812,297RGD
Cytogenetic Map4q22UniSTS
HuRef489,259,357 - 89,259,560UniSTS
G09726  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37494,282,545 - 94,282,678UniSTSGRCh37
Build 36494,501,568 - 94,501,701RGDNCBI36
Celera491,578,917 - 91,579,050RGD
Cytogenetic Map4q22UniSTS
HuRef490,026,253 - 90,026,386UniSTS
RH92539  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37494,540,966 - 94,541,117UniSTSGRCh37
Build 36494,759,989 - 94,760,140RGDNCBI36
Celera491,837,086 - 91,837,237RGD
Cytogenetic Map4q22UniSTS
HuRef490,284,378 - 90,284,529UniSTS
GeneMap99-GB4 RH Map4472.09UniSTS
SHGC-78763  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37494,436,451 - 94,436,687UniSTSGRCh37
Build 36494,655,474 - 94,655,710RGDNCBI36
Celera491,732,691 - 91,732,927RGD
Cytogenetic Map4q22UniSTS
HuRef490,180,059 - 90,180,295UniSTS
TNG Radiation Hybrid Map457063.0UniSTS
SHGC-78799  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37493,347,782 - 93,348,093UniSTSGRCh37
Build 36493,566,805 - 93,567,116RGDNCBI36
Celera490,638,560 - 90,638,871RGD
Cytogenetic Map4q22UniSTS
HuRef489,090,102 - 89,090,413UniSTS
SHGC-79101  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37493,529,008 - 93,529,289UniSTSGRCh37
Build 36493,748,031 - 93,748,312RGDNCBI36
Celera490,823,684 - 90,823,965RGD
Cytogenetic Map4q22UniSTS
HuRef489,270,949 - 89,271,230UniSTS
SHGC-85257  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37494,341,487 - 94,341,767UniSTSGRCh37
Build 36494,560,510 - 94,560,790RGDNCBI36
Celera491,637,857 - 91,638,137RGD
Cytogenetic Map4q22UniSTS
HuRef490,085,204 - 90,085,484UniSTS
TNG Radiation Hybrid Map456983.0UniSTS
RH119932  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37494,586,396 - 94,586,681UniSTSGRCh37
Build 36494,805,419 - 94,805,704RGDNCBI36
Celera491,882,516 - 91,882,801RGD
Cytogenetic Map4q22UniSTS
HuRef490,323,751 - 90,324,036UniSTS
TNG Radiation Hybrid Map457093.0UniSTS
TNG Radiation Hybrid Map457254.0UniSTS
RH119596  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37493,685,559 - 93,685,895UniSTSGRCh37
Build 36493,904,582 - 93,904,918RGDNCBI36
Celera490,982,171 - 90,982,507RGD
Cytogenetic Map4q22UniSTS
HuRef489,429,444 - 89,429,780UniSTS
TNG Radiation Hybrid Map456637.0UniSTS
G59222  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37493,511,211 - 93,511,485UniSTSGRCh37
Build 36493,730,234 - 93,730,508RGDNCBI36
Celera490,805,886 - 90,806,160RGD
Cytogenetic Map4q22UniSTS
HuRef489,253,189 - 89,253,463UniSTS
Grid2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37494,693,423 - 94,693,550UniSTSGRCh37
GRCh37494,693,522 - 94,693,616UniSTSGRCh37
Build 36494,912,446 - 94,912,573RGDNCBI36
Celera491,989,620 - 91,989,714UniSTS
Celera491,989,521 - 91,989,648RGD
HuRef490,430,767 - 90,430,894UniSTS
HuRef490,430,866 - 90,430,960UniSTS
D4S650  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37493,760,103 - 93,760,271UniSTSGRCh37
Build 36493,979,126 - 93,979,294RGDNCBI36
Celera491,056,714 - 91,056,882RGD
Cytogenetic Map4q22UniSTS
HuRef489,503,930 - 89,504,098UniSTS
D4S799  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37494,431,048 - 94,431,201UniSTSGRCh37
Build 36494,650,071 - 94,650,224RGDNCBI36
Celera491,727,280 - 91,727,433RGD
Cytogenetic Map4q22UniSTS
HuRef490,174,656 - 90,174,809UniSTS
D4S2351  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37493,472,339 - 93,472,605UniSTSGRCh37
Build 36493,691,362 - 93,691,628RGDNCBI36
Celera490,767,063 - 90,767,329RGD
Cytogenetic Map4q22UniSTS
HuRef489,214,172 - 89,214,436UniSTS
D4S2692  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37494,435,541 - 94,435,669UniSTSGRCh37
Build 36494,654,564 - 94,654,692RGDNCBI36
Celera491,731,773 - 91,731,909RGD
Cytogenetic Map4q22UniSTS
HuRef490,179,149 - 90,179,277UniSTS
D4S2693  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37493,700,262 - 93,700,406UniSTSGRCh37
Build 36493,919,285 - 93,919,429RGDNCBI36
Celera490,996,874 - 90,997,018RGD
Cytogenetic Map4q22UniSTS
HuRef489,444,147 - 89,444,293UniSTS
SHGC-110334  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37493,829,276 - 93,829,576UniSTSGRCh37
Build 36494,048,299 - 94,048,599RGDNCBI36
Celera491,125,902 - 91,126,202RGD
Cytogenetic Map4q22UniSTS
HuRef489,573,171 - 89,573,471UniSTS
TNG Radiation Hybrid Map456798.0UniSTS
SHGC-111791  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37493,723,968 - 93,724,261UniSTSGRCh37
Build 36493,942,991 - 93,943,284RGDNCBI36
Celera491,020,582 - 91,020,875RGD
Cytogenetic Map4q22UniSTS
HuRef489,467,807 - 89,468,100UniSTS
TNG Radiation Hybrid Map456660.0UniSTS
SHGC-105322  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37494,169,579 - 94,169,910UniSTSGRCh37
Build 36494,388,602 - 94,388,933RGDNCBI36
Celera491,466,015 - 91,466,346RGD
Cytogenetic Map4q22UniSTS
HuRef489,913,170 - 89,913,501UniSTS
TNG Radiation Hybrid Map456965.0UniSTS
SHGC-132008  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37493,734,519 - 93,734,726UniSTSGRCh37
Build 36493,953,542 - 93,953,749RGDNCBI36
Celera491,031,132 - 91,031,339RGD
Cytogenetic Map4q22UniSTS
HuRef489,478,347 - 89,478,554UniSTS
TNG Radiation Hybrid Map456695.0UniSTS
SHGC-107742  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37494,341,067 - 94,341,385UniSTSGRCh37
Build 36494,560,090 - 94,560,408RGDNCBI36
Celera491,637,437 - 91,637,755RGD
Cytogenetic Map4q22UniSTS
HuRef490,084,784 - 90,085,102UniSTS
TNG Radiation Hybrid Map456983.0UniSTS
SHGC-146786  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37493,901,063 - 93,901,393UniSTSGRCh37
Build 36494,120,086 - 94,120,416RGDNCBI36
Celera491,197,673 - 91,198,003RGD
Cytogenetic Map4q22UniSTS
HuRef489,644,936 - 89,645,266UniSTS
TNG Radiation Hybrid Map456828.0UniSTS
SHGC-154327  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37493,460,231 - 93,460,516UniSTSGRCh37
Build 36493,679,254 - 93,679,539RGDNCBI36
Celera490,754,950 - 90,755,235RGD
Cytogenetic Map4q22UniSTS
HuRef489,202,047 - 89,202,332UniSTS
SHGC-51119  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37494,074,345 - 94,074,462UniSTSGRCh37
Build 36494,293,368 - 94,293,485RGDNCBI36
Celera491,370,931 - 91,371,048RGD
Cytogenetic Map4q22UniSTS
HuRef489,818,196 - 89,818,313UniSTS
TNG Radiation Hybrid Map456556.0UniSTS
D4S3224  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37493,643,016 - 93,643,270UniSTSGRCh37
Build 36493,862,039 - 93,862,293RGDNCBI36
Celera490,939,628 - 90,939,882RGD
Cytogenetic Map4q22UniSTS
HuRef489,386,854 - 89,387,108UniSTS
Whitehead-RH Map4515.8UniSTS
Whitehead-YAC Contig Map4 UniSTS
NCBI RH Map41066.5UniSTS
GRID2_2962  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37494,693,136 - 94,693,677UniSTSGRCh37
Build 36494,912,159 - 94,912,700RGDNCBI36
Celera491,989,234 - 91,989,775RGD
HuRef490,430,480 - 90,431,021UniSTS
D4S965  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37494,018,149 - 94,018,370UniSTSGRCh37
Build 36494,237,172 - 94,237,393RGDNCBI36
Celera491,314,731 - 91,314,952RGD
Cytogenetic Map4q22UniSTS
HuRef489,762,002 - 89,762,223UniSTS
TNG Radiation Hybrid Map456852.0UniSTS
SHGC-67661  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37493,649,301 - 93,649,432UniSTSGRCh37
Build 36493,868,324 - 93,868,455RGDNCBI36
Celera490,945,913 - 90,946,044RGD
Cytogenetic Map4q22UniSTS
HuRef489,393,144 - 89,393,275UniSTS
GeneMap99-GB4 RH Map4468.95UniSTS
NCBI RH Map41080.3UniSTS
D4S2667  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37494,378,272 - 94,378,521UniSTSGRCh37
Build 36494,597,295 - 94,597,544RGDNCBI36
Celera491,674,506 - 91,674,755RGD
Cytogenetic Map4q22UniSTS
HuRef490,121,884 - 90,122,133UniSTS
Whitehead-RH Map4507.1UniSTS
Whitehead-YAC Contig Map4 UniSTS
NCBI RH Map41108.8UniSTS
D4S542  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37494,278,969 - 94,279,136UniSTSGRCh37
Build 36494,497,992 - 94,498,159RGDNCBI36
Celera491,575,387 - 91,575,554RGD
Cytogenetic Map4q22UniSTS
HuRef490,022,741 - 90,022,908UniSTS
TNG Radiation Hybrid Map456980.0UniSTS
SHGC-50409  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37493,499,829 - 93,500,038UniSTSGRCh37
Build 36493,718,852 - 93,719,061RGDNCBI36
Celera490,794,502 - 90,794,719RGD
Cytogenetic Map4q22UniSTS
HuRef489,241,799 - 89,242,016UniSTS
D4S312  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37494,491,464 - 94,491,727UniSTSGRCh37
Build 36494,710,487 - 94,710,750RGDNCBI36
Celera491,787,584 - 91,787,847RGD
Cytogenetic Map4q22UniSTS
HuRef490,234,875 - 90,235,138UniSTS
TNG Radiation Hybrid Map457076.0UniSTS
Stanford-G3 RH Map45394.0UniSTS
NCBI RH Map41082.6UniSTS
D4S3264  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37493,881,495 - 93,881,609UniSTSGRCh37
Build 36494,100,518 - 94,100,632RGDNCBI36
Celera491,178,121 - 91,178,235RGD
Cytogenetic Map4q22UniSTS
HuRef489,625,390 - 89,625,504UniSTS
TNG Radiation Hybrid Map456546.0UniSTS
Stanford-G3 RH Map45304.0UniSTS
NCBI RH Map41070.8UniSTS
SHGC4-1553  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37494,588,991 - 94,589,199UniSTSGRCh37
Build 36494,808,014 - 94,808,222RGDNCBI36
Celera491,885,111 - 91,885,319RGD
Cytogenetic Map4q22UniSTS
HuRef490,326,346 - 90,326,554UniSTS
TNG Radiation Hybrid Map457193.0UniSTS
D4S477  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37493,734,480 - 93,734,713UniSTSGRCh37
Build 36493,953,503 - 93,953,736RGDNCBI36
Celera491,031,093 - 91,031,326RGD
Cytogenetic Map4q22UniSTS
HuRef489,478,308 - 89,478,541UniSTS
Stanford-G3 RH Map45376.0UniSTS
NCBI RH Map41076.9UniSTS
SHGC-24441  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37493,748,182 - 93,748,353UniSTSGRCh37
Build 36493,967,205 - 93,967,376RGDNCBI36
Celera491,044,794 - 91,044,965RGD
Cytogenetic Map4q22UniSTS
HuRef489,492,010 - 89,492,181UniSTS
TNG Radiation Hybrid Map456795.0UniSTS
G34300  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37494,588,932 - 94,589,271UniSTSGRCh37
Build 36494,807,955 - 94,808,294RGDNCBI36
Celera491,885,052 - 91,885,391RGD
Cytogenetic Map4q22UniSTS
HuRef490,326,287 - 90,326,626UniSTS
SHGC-51584  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37494,431,049 - 94,431,200UniSTSGRCh37
Build 36494,650,072 - 94,650,223RGDNCBI36
Celera491,727,281 - 91,727,432RGD
Cytogenetic Map4q22UniSTS
HuRef490,174,657 - 90,174,808UniSTS
TNG Radiation Hybrid Map456986.0UniSTS
G16769  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37493,748,042 - 93,748,233UniSTSGRCh37
Build 36493,967,065 - 93,967,256RGDNCBI36
Celera491,044,654 - 91,044,845RGD
Cytogenetic Map4q22UniSTS
HuRef489,491,870 - 89,492,061UniSTS
D4S1135  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37494,068,663 - 94,068,851UniSTSGRCh37
Build 36494,287,686 - 94,287,874RGDNCBI36
Celera491,365,249 - 91,365,437RGD
Cytogenetic Map4q22UniSTS
HuRef489,812,514 - 89,812,702UniSTS
TNG Radiation Hybrid Map456855.0UniSTS
STS-Z70764  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37493,932,096 - 93,932,208UniSTSGRCh37
GRCh37493,928,157 - 93,928,269UniSTSGRCh37
Build 36494,147,180 - 94,147,292RGDNCBI36
Celera491,228,706 - 91,228,818UniSTS
Celera491,224,767 - 91,224,879RGD
Cytogenetic Map4q22UniSTS
HuRef489,672,034 - 89,672,146UniSTS
HuRef489,675,973 - 89,676,085UniSTS
GeneMap99-GB4 RH Map4477.95UniSTS
WI-13806  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37493,611,194 - 93,611,327UniSTSGRCh37
Build 36493,830,217 - 93,830,350RGDNCBI36
Celera490,907,809 - 90,907,942RGD
Cytogenetic Map4q22UniSTS
HuRef489,355,036 - 89,355,169UniSTS
GeneMap99-GB4 RH Map4477.95UniSTS
Whitehead-RH Map4519.7UniSTS
G54560  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37494,690,634 - 94,690,930UniSTSGRCh37
Celera491,986,732 - 91,987,028UniSTS
Cytogenetic Map4q22UniSTS
HuRef490,427,978 - 90,428,274UniSTS
Grid2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37494,693,423 - 94,693,550UniSTSGRCh37
GRCh37494,693,522 - 94,693,616UniSTSGRCh37
Build 36494,912,446 - 94,912,573RGDNCBI36
Celera491,989,620 - 91,989,714UniSTS
Celera491,989,521 - 91,989,648RGD
HuRef490,430,767 - 90,430,894UniSTS
HuRef490,430,866 - 90,430,960UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1465
Count of miRNA genes:838
Interacting mature miRNAs:991
Transcripts:ENST00000282020, ENST00000502699, ENST00000505687, ENST00000510992, ENST00000512631, ENST00000513976, ENST00000515744
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1 1 4 1 173 176 2 18 4
Low 24 57 120 9 14 9 54 11 2139 37 508 48 21 1
Below cutoff 1899 1978 950 226 611 93 2952 1325 1287 157 657 1028 138 798 2090 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC020699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC095059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC096769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC105315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC105452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC108158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC110800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC112695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC115111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC115537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF009014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW295056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC099652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC099653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC099654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000282020   ⟹   ENSP00000282020
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl492,303,966 - 93,774,566 (+)Ensembl
RefSeq Acc Id: ENST00000502699   ⟹   ENSP00000422845
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl492,822,949 - 93,166,161 (+)Ensembl
RefSeq Acc Id: ENST00000505687
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl492,304,485 - 93,217,267 (+)Ensembl
RefSeq Acc Id: ENST00000510992   ⟹   ENSP00000421257
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl492,304,657 - 93,772,498 (+)Ensembl
RefSeq Acc Id: ENST00000512631   ⟹   ENSP00000423331
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl493,203,949 - 93,238,421 (+)Ensembl
RefSeq Acc Id: ENST00000513976   ⟹   ENSP00000425794
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl493,238,371 - 93,306,322 (+)Ensembl
RefSeq Acc Id: ENST00000515744
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl492,822,949 - 93,112,247 (+)Ensembl
RefSeq Acc Id: ENST00000611049   ⟹   ENSP00000483084
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl493,084,986 - 93,774,553 (+)Ensembl
RefSeq Acc Id: ENST00000637838   ⟹   ENSP00000490775
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl493,769,230 - 93,810,157 (+)Ensembl
RefSeq Acc Id: NM_001286838   ⟹   NP_001273767
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38492,304,399 - 93,774,556 (+)NCBI
HuRef488,967,871 - 90,433,051 (+)NCBI
CHM1_1493,202,022 - 94,672,224 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001510   ⟹   NP_001501
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38492,303,966 - 93,774,566 (+)NCBI
GRCh37493,225,453 - 94,695,707 (+)NCBI
Build 36493,444,573 - 94,912,672 (+)NCBI Archive
HuRef488,967,871 - 90,433,051 (+)NCBI
CHM1_1493,202,022 - 94,672,224 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531893   ⟹   XP_011530195
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38492,816,332 - 93,774,969 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531894   ⟹   XP_011530196
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38493,195,850 - 93,774,969 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531895   ⟹   XP_011530197
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38493,203,949 - 93,774,969 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008118   ⟹   XP_016863607
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38492,816,332 - 93,774,969 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008119   ⟹   XP_016863608
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38493,066,783 - 93,774,969 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008120   ⟹   XP_016863609
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38492,816,332 - 93,810,415 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008121   ⟹   XP_016863610
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38492,816,332 - 93,629,582 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008122   ⟹   XP_016863611
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38492,303,622 - 93,629,582 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008123   ⟹   XP_016863612
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38493,163,706 - 93,774,969 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008124   ⟹   XP_016863613
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38493,165,445 - 93,774,969 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008125   ⟹   XP_016863614
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38493,195,843 - 93,774,969 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008127   ⟹   XP_016863616
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38492,816,332 - 93,429,735 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024454024   ⟹   XP_024309792
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38492,303,622 - 93,774,969 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024454025   ⟹   XP_024309793
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38493,203,949 - 93,774,969 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024454026   ⟹   XP_024309794
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38493,203,938 - 93,774,969 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001273767 (Get FASTA)   NCBI Sequence Viewer  
  NP_001501 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530195 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530196 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530197 (Get FASTA)   NCBI Sequence Viewer  
  XP_016863607 (Get FASTA)   NCBI Sequence Viewer  
  XP_016863608 (Get FASTA)   NCBI Sequence Viewer  
  XP_016863609 (Get FASTA)   NCBI Sequence Viewer  
  XP_016863610 (Get FASTA)   NCBI Sequence Viewer  
  XP_016863611 (Get FASTA)   NCBI Sequence Viewer  
  XP_016863612 (Get FASTA)   NCBI Sequence Viewer  
  XP_016863613 (Get FASTA)   NCBI Sequence Viewer  
  XP_016863614 (Get FASTA)   NCBI Sequence Viewer  
  XP_016863616 (Get FASTA)   NCBI Sequence Viewer  
  XP_024309792 (Get FASTA)   NCBI Sequence Viewer  
  XP_024309793 (Get FASTA)   NCBI Sequence Viewer  
  XP_024309794 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC39579 (Get FASTA)   NCBI Sequence Viewer  
  AAH99652 (Get FASTA)   NCBI Sequence Viewer  
  AAH99653 (Get FASTA)   NCBI Sequence Viewer  
  AAH99654 (Get FASTA)   NCBI Sequence Viewer  
  AAY40921 (Get FASTA)   NCBI Sequence Viewer  
  AAY40938 (Get FASTA)   NCBI Sequence Viewer  
  AAY41014 (Get FASTA)   NCBI Sequence Viewer  
  AAY41015 (Get FASTA)   NCBI Sequence Viewer  
  BAD92555 (Get FASTA)   NCBI Sequence Viewer  
  BAG63681 (Get FASTA)   NCBI Sequence Viewer  
  EAX06044 (Get FASTA)   NCBI Sequence Viewer  
  O43424 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001501   ⟸   NM_001510
- Peptide Label: isoform 1 precursor
- UniProtKB: O43424 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001273767   ⟸   NM_001286838
- Peptide Label: isoform 2 precursor
- UniProtKB: O43424 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011530195   ⟸   XM_011531893
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011530196   ⟸   XM_011531894
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011530197   ⟸   XM_011531895
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016863611   ⟸   XM_017008122
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016863609   ⟸   XM_017008120
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016863607   ⟸   XM_017008118
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016863610   ⟸   XM_017008121
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016863616   ⟸   XM_017008127
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_016863608   ⟸   XM_017008119
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016863612   ⟸   XM_017008123
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016863613   ⟸   XM_017008124
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016863614   ⟸   XM_017008125
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_024309792   ⟸   XM_024454024
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024309794   ⟸   XM_024454026
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_024309793   ⟸   XM_024454025
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: ENSP00000422845   ⟸   ENST00000502699
RefSeq Acc Id: ENSP00000490775   ⟸   ENST00000637838
RefSeq Acc Id: ENSP00000282020   ⟸   ENST00000282020
RefSeq Acc Id: ENSP00000483084   ⟸   ENST00000611049
RefSeq Acc Id: ENSP00000421257   ⟸   ENST00000510992
RefSeq Acc Id: ENSP00000423331   ⟸   ENST00000512631
RefSeq Acc Id: ENSP00000425794   ⟸   ENST00000513976
Protein Domains
ANF_receptor   Lig_chan-Glu_bd   PBPe

Promoters
RGD ID:6868046
Promoter ID:EPDNEW_H7188
Type:initiation region
Name:GRID2_1
Description:glutamate ionotropic receptor delta type subunit 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7189  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38492,303,721 - 92,303,781EPDNEW
RGD ID:6868048
Promoter ID:EPDNEW_H7189
Type:initiation region
Name:GRID2_2
Description:glutamate ionotropic receptor delta type subunit 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7188  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38492,304,485 - 92,304,545EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
null single nucleotide variant not provided [RCV001665020] Chr4:93217091 [GRCh38]
Chr4:94138242 [GRCh37]
Chr4:4q22.2
benign
NM_001510.3(GRID2):c.2360+46770T>A single nucleotide variant Lung cancer [RCV000095101] Chr4:93673205 [GRCh38]
Chr4:94594356 [GRCh37]
Chr4:4q22.2
uncertain significance
NM_001510.3(GRID2):c.88+31633C>T single nucleotide variant Lung cancer [RCV000095081] Chr4:92336377 [GRCh38]
Chr4:93257528 [GRCh37]
Chr4:4q22.1
uncertain significance
NM_001510.3(GRID2):c.88+126060G>C single nucleotide variant Lung cancer [RCV000095082] Chr4:92430804 [GRCh38]
Chr4:93351955 [GRCh37]
Chr4:4q22.1
uncertain significance
NM_001510.3(GRID2):c.89-135523C>A single nucleotide variant Lung cancer [RCV000095083] Chr4:92454608 [GRCh38]
Chr4:93375759 [GRCh37]
Chr4:4q22.1
uncertain significance
NM_001510.3(GRID2):c.89-93712G>C single nucleotide variant Lung cancer [RCV000095084] Chr4:92496419 [GRCh38]
Chr4:93417570 [GRCh37]
Chr4:4q22.1
uncertain significance
NM_001510.3(GRID2):c.89-60722G>T single nucleotide variant Lung cancer [RCV000095085] Chr4:92529409 [GRCh38]
Chr4:93450560 [GRCh37]
Chr4:4q22.1
uncertain significance
NM_001510.3(GRID2):c.244+84823A>G single nucleotide variant Lung cancer [RCV000095086] Chr4:92675109 [GRCh38]
Chr4:93596260 [GRCh37]
Chr4:4q22.1
uncertain significance
NM_001510.3(GRID2):c.244+147377A>G single nucleotide variant Lung cancer [RCV000095087] Chr4:92737663 [GRCh38]
Chr4:93658814 [GRCh37]
Chr4:4q22.1
uncertain significance
NM_001510.3(GRID2):c.244+182555T>A single nucleotide variant Lung cancer [RCV000095088] Chr4:92772841 [GRCh38]
Chr4:93693992 [GRCh37]
Chr4:4q22.1
uncertain significance
NM_001510.3(GRID2):c.530-11092C>T single nucleotide variant Lung cancer [RCV000095091] Chr4:93099656 [GRCh38]
Chr4:94020807 [GRCh37]
Chr4:4q22.2
uncertain significance
NM_001510.3(GRID2):c.530-8902C>T single nucleotide variant Lung cancer [RCV000095092] Chr4:93101846 [GRCh38]
Chr4:94022997 [GRCh37]
Chr4:4q22.2
uncertain significance
NM_001510.3(GRID2):c.735+44432C>T single nucleotide variant Lung cancer [RCV000095093] Chr4:93155385 [GRCh38]
Chr4:94076536 [GRCh37]
Chr4:4q22.2
uncertain significance
NM_001510.3(GRID2):c.1245+22386T>G single nucleotide variant Lung cancer [RCV000095094] Chr4:93260876 [GRCh38]
Chr4:94182027 [GRCh37]
Chr4:4q22.2
uncertain significance
NM_001510.3(GRID2):c.1246-13556T>G single nucleotide variant Lung cancer [RCV000095095] Chr4:93382051 [GRCh38]
Chr4:94303202 [GRCh37]
Chr4:4q22.2
uncertain significance
NM_001510.3(GRID2):c.1545+4363C>A single nucleotide variant Lung cancer [RCV000095096] Chr4:93427331 [GRCh38]
Chr4:94348482 [GRCh37]
Chr4:4q22.2
uncertain significance
NM_001510.3(GRID2):c.2194-44831G>C single nucleotide variant Lung cancer [RCV000095097] Chr4:93581438 [GRCh38]
Chr4:94502589 [GRCh37]
Chr4:4q22.2
uncertain significance
NM_001510.3(GRID2):c.2360+3695C>T single nucleotide variant Lung cancer [RCV000095098] Chr4:93630130 [GRCh38]
Chr4:94551281 [GRCh37]
Chr4:4q22.2
uncertain significance
NM_001510.3(GRID2):c.2360+3699C>T single nucleotide variant Lung cancer [RCV000095099] Chr4:93630134 [GRCh38]
Chr4:94551285 [GRCh37]
Chr4:4q22.2
uncertain significance
NM_001510.3(GRID2):c.2360+9369T>A single nucleotide variant Lung cancer [RCV000095100] Chr4:93635804 [GRCh38]
Chr4:94556955 [GRCh37]
Chr4:4q22.2
uncertain significance
GRCh38/hg38 4q22.1-22.2(chr4:92513191-94071223)x3 copy number gain See cases [RCV000050323] Chr4:92513191..94071223 [GRCh38]
Chr4:93434342..94992374 [GRCh37]
Chr4:93653365..95211397 [NCBI36]
Chr4:4q22.1-22.2
uncertain significance
GRCh38/hg38 4q22.1(chr4:91409940-92438832)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051604]|See cases [RCV000051604] Chr4:91409940..92438832 [GRCh38]
Chr4:92331091..93359983 [GRCh37]
Chr4:92550114..93579006 [NCBI36]
Chr4:4q22.1
uncertain significance
GRCh38/hg38 4q22.1(chr4:91475388-92438832)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051631]|See cases [RCV000051631] Chr4:91475388..92438832 [GRCh38]
Chr4:92396539..93359983 [GRCh37]
Chr4:92615562..93579006 [NCBI36]
Chr4:4q22.1
uncertain significance
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3
pathogenic
GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3 copy number gain See cases [RCV000051772] Chr4:51831622..97505618 [GRCh38]
Chr4:52697788..98426769 [GRCh37]
Chr4:52392545..98645792 [NCBI36]
Chr4:4q12-22.3
pathogenic
GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1 copy number loss See cases [RCV000053297] Chr4:79575748..92412449 [GRCh38]
Chr4:80496902..93333600 [GRCh37]
Chr4:80715926..93552623 [NCBI36]
Chr4:4q21.21-22.1
pathogenic
NM_001510.3(GRID2):c.373G>A (p.Gly125Arg) single nucleotide variant Malignant melanoma [RCV000066578] Chr4:93085123 [GRCh38]
Chr4:94006274 [GRCh37]
Chr4:94225297 [NCBI36]
Chr4:4q22.2
not provided
NM_001510.3(GRID2):c.579G>A (p.Met193Ile) single nucleotide variant Malignant melanoma [RCV000066579] Chr4:93110797 [GRCh38]
Chr4:94031948 [GRCh37]
Chr4:94250971 [NCBI36]
Chr4:4q22.2
not provided
NM_001510.3(GRID2):c.790G>A (p.Glu264Lys) single nucleotide variant Malignant melanoma [RCV000066580] Chr4:93216738 [GRCh38]
Chr4:94137889 [GRCh37]
Chr4:94356912 [NCBI36]
Chr4:4q22.2
not provided
NM_001510.3(GRID2):c.2582C>T (p.Ser861Phe) single nucleotide variant Malignant melanoma [RCV000066581] Chr4:93769431 [GRCh38]
Chr4:94690582 [GRCh37]
Chr4:94909605 [NCBI36]
Chr4:4q22.2
not provided
NM_001510.3(GRID2):c.612C>T (p.Ile204=) single nucleotide variant Malignant melanoma [RCV000061072] Chr4:93110830 [GRCh38]
Chr4:94031981 [GRCh37]
Chr4:94251004 [NCBI36]
Chr4:4q22.2
not provided
NM_001510.3(GRID2):c.1046G>A (p.Ser349Asn) single nucleotide variant Malignant melanoma [RCV000061073] Chr4:93224696 [GRCh38]
Chr4:94145847 [GRCh37]
Chr4:94364870 [NCBI36]
Chr4:4q22.2
not provided
NM_001510.3(GRID2):c.244+193574C>A single nucleotide variant Lung cancer [RCV000095089] Chr4:92783860 [GRCh38]
Chr4:93705011 [GRCh37]
Chr4:4q22.1
uncertain significance
NC_000004.11:g.92981313_93256907del deletion Troyer syndrome [RCV000114365] Chr4:92060162..92335756 [GRCh38]
Chr4:92981313..93256907 [GRCh37]
Chr4:4q22.1
pathogenic|uncertain significance
GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1 copy number loss See cases [RCV000134977] Chr4:80879777..94809447 [GRCh38]
Chr4:81800931..95730598 [GRCh37]
Chr4:82019955..95949621 [NCBI36]
Chr4:4q21.21-22.3
pathogenic
GRCh38/hg38 4q22.1(chr4:92535045-92633791)x1 copy number loss See cases [RCV000135167] Chr4:92535045..92633791 [GRCh38]
Chr4:93456196..93554942 [GRCh37]
Chr4:93675219..93773965 [NCBI36]
Chr4:4q22.1
likely benign
GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1 copy number loss See cases [RCV000137269] Chr4:80427023..100855441 [GRCh38]
Chr4:81348177..101776598 [GRCh37]
Chr4:81567201..101995621 [NCBI36]
Chr4:4q21.21-24
pathogenic
GRCh38/hg38 4q22.1(chr4:91319372-92513250)x3 copy number gain See cases [RCV000137193] Chr4:91319372..92513250 [GRCh38]
Chr4:92240523..93434401 [GRCh37]
Chr4:92459546..93653424 [NCBI36]
Chr4:4q22.1
benign
GRCh38/hg38 4q22.1-22.3(chr4:92087558-94308725)x1 copy number loss See cases [RCV000137734] Chr4:92087558..94308725 [GRCh38]
Chr4:93008709..95229876 [GRCh37]
Chr4:93227732..95448899 [NCBI36]
Chr4:4q22.1-22.3
uncertain significance
GRCh38/hg38 4q21.23-22.2(chr4:84329551-93654474)x1 copy number loss See cases [RCV000139231] Chr4:84329551..93654474 [GRCh38]
Chr4:85250704..94575625 [GRCh37]
Chr4:85469728..94794648 [NCBI36]
Chr4:4q21.23-22.2
likely benign
GRCh38/hg38 4q22.1-24(chr4:92610413-101521991)x1 copy number loss See cases [RCV000140412] Chr4:92610413..101521991 [GRCh38]
Chr4:93531564..102443148 [GRCh37]
Chr4:93750587..102662171 [NCBI36]
Chr4:4q22.1-24
pathogenic
GRCh38/hg38 4q22.1-22.2(chr4:92736560-92865617)x1 copy number loss See cases [RCV000139482] Chr4:92736560..92865617 [GRCh38]
Chr4:93657711..93786768 [GRCh37]
Chr4:93876734..94005791 [NCBI36]
Chr4:4q22.1-22.2
likely benign
GRCh38/hg38 4q22.1-22.2(chr4:90585759-94055316)x3 copy number gain See cases [RCV000141389] Chr4:90585759..94055316 [GRCh38]
Chr4:91506910..94976467 [GRCh37]
Chr4:91725933..95195490 [NCBI36]
Chr4:4q22.1-22.2
uncertain significance
GRCh38/hg38 4q21.23-22.2(chr4:85449365-93973194)x1 copy number loss See cases [RCV000141424] Chr4:85449365..93973194 [GRCh38]
Chr4:86370518..94894345 [GRCh37]
Chr4:86589542..95113368 [NCBI36]
Chr4:4q21.23-22.2
pathogenic
GRCh38/hg38 4q22.1-22.2(chr4:92566333-92938641)x1 copy number loss See cases [RCV000141847] Chr4:92566333..92938641 [GRCh38]
Chr4:93487484..93859792 [GRCh37]
Chr4:93706507..94078815 [NCBI36]
Chr4:4q22.1-22.2
uncertain significance
GRCh38/hg38 4q22.1-22.2(chr4:92751875-93073656)x1 copy number loss See cases [RCV000142952] Chr4:92751875..93073656 [GRCh38]
Chr4:93673026..93994807 [GRCh37]
Chr4:93892049..94213830 [NCBI36]
Chr4:4q22.1-22.2
likely benign
GRCh38/hg38 4q22.2(chr4:93343337-93541770)x3 copy number gain See cases [RCV000142656] Chr4:93343337..93541770 [GRCh38]
Chr4:94264488..94462921 [GRCh37]
Chr4:94483511..94681944 [NCBI36]
Chr4:4q22.2
uncertain significance
GRCh38/hg38 4q22.2(chr4:92948705-93234197)x1 copy number loss See cases [RCV000143187] Chr4:92948705..93234197 [GRCh38]
Chr4:93869856..94155348 [GRCh37]
Chr4:94088879..94374371 [NCBI36]
Chr4:4q22.2
uncertain significance
GRCh38/hg38 4q22.2-22.3(chr4:93368807-94200572)x1 copy number loss See cases [RCV000143198] Chr4:93368807..94200572 [GRCh38]
Chr4:94289958..95121723 [GRCh37]
Chr4:94508981..95340746 [NCBI36]
Chr4:4q22.2-22.3
uncertain significance
GRCh38/hg38 4q22.2(chr4:92833132-93124343)x1 copy number loss See cases [RCV000143133] Chr4:92833132..93124343 [GRCh38]
Chr4:93754283..94045494 [GRCh37]
Chr4:93973306..94264517 [NCBI36]
Chr4:4q22.2
likely pathogenic|uncertain significance
GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3 copy number gain See cases [RCV000143458] Chr4:68686088..95294456 [GRCh38]
Chr4:69551806..96215607 [GRCh37]
Chr4:69234401..96434630 [NCBI36]
Chr4:4q13.2-22.3
pathogenic
GRCh38/hg38 4q22.1-22.2(chr4:92513191-94071223)x3 copy number gain See cases [RCV000148267] Chr4:92513191..94071223 [GRCh38]
Chr4:93434342..94992374 [GRCh37]
Chr4:93653365..95211397 [NCBI36]
Chr4:4q22.1-22.2
uncertain significance
NC_000004.12:g.93013415_93157863del deletion Spinocerebellar ataxia, autosomal recessive 18 [RCV000156930] Chr4:93013415..93157863 [GRCh38]
Chr4:94153589..94298037 [GRCh37]
Chr4:4q22.1-22.2
pathogenic|uncertain significance|not provided
NM_001510.3(GRID2):c.530-12057_735+24661del36924 deletion Spinocerebellar ataxia, autosomal recessive 18 [RCV000156931] Chr4:93098691..93135614 [GRCh38]
Chr4:94019842..94056765 [GRCh37]
Chr4:4q22.1-22.2
pathogenic|not provided
NC_000004.12:g.92559959_92610106del deletion Spinocerebellar ataxia, autosomal recessive 18 [RCV000156932] Chr4:92559959..92610106 [GRCh38]
Chr4:93481112..93531259 [GRCh37]
Chr4:4q22.1-22.2
pathogenic|not provided
NC_000004.12:g.92491792_92826931del deletion Spinocerebellar ataxia, autosomal recessive 18 [RCV000156933] Chr4:92491792..92826931 [GRCh38]
Chr4:93412943..93748082 [GRCh37]
Chr4:4q22.1-22.2
pathogenic|not provided
NM_001510.3(GRID2):c.245-219371_245-58043del deletion Gestational diabetes mellitus uncontrolled [RCV000161351] Chr4:92865624..93026952 [GRCh38]
Chr4:93786775..93948103 [GRCh37]
Chr4:4q22.2
not provided
GRCh37/hg19 4q22.2(chr4:94015225-94113162)x1 copy number loss See cases [RCV000239879] Chr4:94015225..94113162 [GRCh37]
Chr4:4q22.2
uncertain significance
NM_001510.4(GRID2):c.1178A>G (p.Asn393Ser) single nucleotide variant not provided [RCV000489318] Chr4:93238423 [GRCh38]
Chr4:94159574 [GRCh37]
Chr4:4q22.2
uncertain significance
NM_001510.4(GRID2):c.671G>A (p.Arg224Gln) single nucleotide variant Spinocerebellar ataxia, autosomal recessive 18 [RCV000578455] Chr4:93110889 [GRCh38]
Chr4:94032040 [GRCh37]
Chr4:4q22.2
likely pathogenic
NM_001510.4(GRID2):c.876G>C (p.Gln292His) single nucleotide variant not provided [RCV000591272] Chr4:93216824 [GRCh38]
Chr4:94137975 [GRCh37]
Chr4:4q22.2
uncertain significance
GRCh37/hg19 4q22.1(chr4:92517861-93229065)x4 copy number gain See cases [RCV000447328] Chr4:92517861..93229065 [GRCh37]
Chr4:4q22.1
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q21.23-24(chr4:85805268-103678797)x1 copy number loss See cases [RCV000445741] Chr4:85805268..103678797 [GRCh37]
Chr4:4q21.23-24
pathogenic
NC_000004.12:g.(?_92933574)_(93091359_?)del deletion Schizophrenia [RCV000416803] Chr4:92933574..93091359 [GRCh38]
Chr4:93854725..94012510 [GRCh37]
Chr4:94073748..94231533 [NCBI36]
Chr4:4q22.2
likely pathogenic
GRCh37/hg19 4q22.2(chr4:93978239-94073948)x0 copy number loss See cases [RCV000510536] Chr4:93978239..94073948 [GRCh37]
Chr4:4q22.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_001510.4(GRID2):c.2128C>T (p.Arg710Trp) single nucleotide variant Spinocerebellar ataxia, autosomal recessive 18 [RCV000490816] Chr4:93515346 [GRCh38]
Chr4:94436497 [GRCh37]
Chr4:4q22.2
pathogenic
Single allele deletion Spinocerebellar ataxia, autosomal recessive 18 [RCV000491645] Chr4:93978239..94078203 [GRCh37]
Chr4:4q22.2
pathogenic
GRCh37/hg19 4q22.1(chr4:92494315-93233588)x3 copy number gain See cases [RCV000511365] Chr4:92494315..93233588 [GRCh37]
Chr4:4q22.1
uncertain significance
GRCh37/hg19 4q22.1(chr4:92491756-93233588)x3 copy number gain See cases [RCV000511537] Chr4:92491756..93233588 [GRCh37]
Chr4:4q22.1
uncertain significance
NM_001510.4(GRID2):c.899G>A (p.Arg300His) single nucleotide variant not provided [RCV000493146] Chr4:93216847 [GRCh38]
Chr4:94137998 [GRCh37]
Chr4:4q22.2
uncertain significance
GRCh37/hg19 4q22.1-24(chr4:92201567-103043808)x1 copy number loss See cases [RCV000511194] Chr4:92201567..103043808 [GRCh37]
Chr4:4q22.1-24
pathogenic
GRCh37/hg19 4q22.1-22.3(chr4:89891197-98235479)x1 copy number loss See cases [RCV000510980] Chr4:89891197..98235479 [GRCh37]
Chr4:4q22.1-22.3
likely pathogenic
GRCh37/hg19 4q22.1(chr4:92491812-93233588)x3 copy number gain See cases [RCV000511011] Chr4:92491812..93233588 [GRCh37]
Chr4:4q22.1
uncertain significance
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2
pathogenic
NM_001510.4(GRID2):c.1419T>A (p.Asp473Glu) single nucleotide variant Inborn genetic diseases [RCV000624358] Chr4:93422842 [GRCh38]
Chr4:94343993 [GRCh37]
Chr4:4q22.2
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q22.1-22.3(chr4:90005204-96971785)x1 copy number loss not provided [RCV000682434] Chr4:90005204..96971785 [GRCh37]
Chr4:4q22.1-22.3
pathogenic
GRCh37/hg19 4q22.1(chr4:93280178-93437468)x1 copy number loss not provided [RCV000682435] Chr4:93280178..93437468 [GRCh37]
Chr4:4q22.1
uncertain significance
GRCh37/hg19 4q21.21-22.3(chr4:81314915-96636651)x1 copy number loss not provided [RCV000682426] Chr4:81314915..96636651 [GRCh37]
Chr4:4q21.21-22.3
pathogenic
NC_000004.12:g.(?_92590068)_(92732357_?)del deletion Schizophrenia [RCV000754290] Chr4:92590068..92732357 [GRCh38]
Chr4:4q22.1
likely pathogenic
NC_000004.12:g.(?_92930845)_(93092974_?)del deletion Schizophrenia [RCV000754291] Chr4:92930845..93092974 [GRCh38]
Chr4:4q22.2
likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q22.1-22.3(chr4:93344512-95415483)x3 copy number gain not provided [RCV000743825] Chr4:93344512..95415483 [GRCh37]
Chr4:4q22.1-22.3
uncertain significance
GRCh37/hg19 4q22.1(chr4:93368860-93440881)x1 copy number loss not provided [RCV000743826] Chr4:93368860..93440881 [GRCh37]
Chr4:4q22.1
benign
GRCh37/hg19 4q22.1-22.2(chr4:93539673-93985925)x3 copy number gain not provided [RCV000743827] Chr4:93539673..93985925 [GRCh37]
Chr4:4q22.1-22.2
benign
GRCh37/hg19 4q22.1(chr4:93561680-93569659)x1 copy number loss not provided [RCV000743828] Chr4:93561680..93569659 [GRCh37]
Chr4:4q22.1
benign
GRCh37/hg19 4q22.1(chr4:93567725-93573396)x1 copy number loss not provided [RCV000743829] Chr4:93567725..93573396 [GRCh37]
Chr4:4q22.1
benign
GRCh37/hg19 4q22.1(chr4:93612903-93673153)x1 copy number loss not provided [RCV000743830] Chr4:93612903..93673153 [GRCh37]
Chr4:4q22.1
benign
GRCh37/hg19 4q22.2(chr4:93740409-93859328)x1 copy number loss not provided [RCV000743831] Chr4:93740409..93859328 [GRCh37]
Chr4:4q22.2
benign
GRCh37/hg19 4q22.2(chr4:93845589-93998463)x1 copy number loss not provided [RCV000743832] Chr4:93845589..93998463 [GRCh37]
Chr4:4q22.2
benign
GRCh37/hg19 4q22.2(chr4:93847904-93890168)x1 copy number loss not provided [RCV000743833] Chr4:93847904..93890168 [GRCh37]
Chr4:4q22.2
benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
null single nucleotide variant not provided [RCV001609767] Chr4:93515496 [GRCh38]
Chr4:94436647 [GRCh37]
Chr4:4q22.2
benign
NM_001943.5(DSG2):c.1299T>C (p.Asp433=) single nucleotide variant not provided [RCV001708697] Chr4:93084719 [GRCh38]
Chr4:94005870 [GRCh37]
Chr4:4q22.2
benign
NM_001510.4(GRID2):c.654A>G (p.Glu218=) single nucleotide variant not provided [RCV000979306] Chr4:93110872 [GRCh38]
Chr4:94032023 [GRCh37]
Chr4:4q22.2
likely benign
NM_001943.5(DSG2):c.1299T>C (p.Asp433=) single nucleotide variant not provided [RCV001708357] Chr4:93772768 [GRCh38]
Chr4:94693919 [GRCh37]
Chr4:4q22.2
benign
NM_001510.4(GRID2):c.1728A>G (p.Thr576=) single nucleotide variant not provided [RCV000941802] Chr4:93455844 [GRCh38]
Chr4:94376995 [GRCh37]
Chr4:4q22.2
likely benign
NM_001510.4(GRID2):c.53G>A (p.Trp18Ter) single nucleotide variant not provided [RCV000760713] Chr4:92304709 [GRCh38]
Chr4:93225860 [GRCh37]
Chr4:4q22.1
likely pathogenic
NM_001510.4(GRID2):c.910C>T (p.Arg304Ter) single nucleotide variant Spinocerebellar ataxia, autosomal recessive 18 [RCV000985204] Chr4:93216858 [GRCh38]
Chr4:94138009 [GRCh37]
Chr4:4q22.2
likely pathogenic
NM_001510.4(GRID2):c.204G>A (p.Thr68=) single nucleotide variant not provided [RCV000900359] Chr4:92590246 [GRCh38]
Chr4:93511397 [GRCh37]
Chr4:4q22.1
likely benign
NM_001510.4(GRID2):c.855G>A (p.Arg285=) single nucleotide variant not provided [RCV000971742] Chr4:93216803 [GRCh38]
Chr4:94137954 [GRCh37]
Chr4:4q22.2
benign
NM_001510.4(GRID2):c.1878G>A (p.Thr626=) single nucleotide variant not provided [RCV000946800] Chr4:93490658 [GRCh38]
Chr4:94411809 [GRCh37]
Chr4:4q22.2
benign
NM_001510.4(GRID2):c.1981A>T (p.Ile661Phe) single nucleotide variant not provided [RCV000928552] Chr4:93490761 [GRCh38]
Chr4:94411912 [GRCh37]
Chr4:4q22.2
likely benign
NM_001510.4(GRID2):c.2313A>G (p.Gly771=) single nucleotide variant not provided [RCV000936613] Chr4:93626388 [GRCh38]
Chr4:94547539 [GRCh37]
Chr4:4q22.2
likely benign
NM_001510.4(GRID2):c.2106C>T (p.Asp702=) single nucleotide variant not provided [RCV000901229] Chr4:93515324 [GRCh38]
Chr4:94436475 [GRCh37]
Chr4:4q22.2
benign
NM_001510.4(GRID2):c.1467C>T (p.Tyr489=) single nucleotide variant not provided [RCV000903692] Chr4:93422890 [GRCh38]
Chr4:94344041 [GRCh37]
Chr4:4q22.2
benign
NM_001510.4(GRID2):c.1203T>C (p.Leu401=) single nucleotide variant not provided [RCV000973238] Chr4:93238448 [GRCh38]
Chr4:94159599 [GRCh37]
Chr4:4q22.2
benign
NM_001510.4(GRID2):c.2481C>T (p.Asp827=) single nucleotide variant not provided [RCV000926425] Chr4:93769330 [GRCh38]
Chr4:94690481 [GRCh37]
Chr4:4q22.2
likely benign
NM_001510.4(GRID2):c.177G>A (p.Gln59=) single nucleotide variant not provided [RCV000882240] Chr4:92590219 [GRCh38]
Chr4:93511370 [GRCh37]
Chr4:4q22.1
likely benign
NM_001510.4(GRID2):c.2218G>A (p.Val740Ile) single nucleotide variant not provided [RCV000966925] Chr4:93626293 [GRCh38]
Chr4:94547444 [GRCh37]
Chr4:4q22.2
benign
NM_001510.4(GRID2):c.2058G>A (p.Ala686=) single nucleotide variant not provided [RCV000939789] Chr4:93515276 [GRCh38]
Chr4:94436427 [GRCh37]
Chr4:4q22.2
likely benign
NM_001510.4(GRID2):c.483A>T (p.Thr161=) single nucleotide variant not provided [RCV000902734] Chr4:93085233 [GRCh38]
Chr4:94006384 [GRCh37]
Chr4:4q22.2
benign
NM_001510.4(GRID2):c.273G>A (p.Leu91=) single nucleotide variant not provided [RCV000980828] Chr4:93085023 [GRCh38]
Chr4:94006174 [GRCh37]
Chr4:4q22.2
likely benign
NM_001510.4(GRID2):c.290T>C (p.Ile97Thr) single nucleotide variant not provided [RCV000900717] Chr4:93085040 [GRCh38]
Chr4:94006191 [GRCh37]
Chr4:4q22.2
benign
NM_001510.4(GRID2):c.1134T>C (p.Val378=) single nucleotide variant not provided [RCV000914626] Chr4:93238379 [GRCh38]
Chr4:94159530 [GRCh37]
Chr4:4q22.2
likely benign
GRCh37/hg19 4q22.1(chr4:93326311-93569881)x1 copy number loss not provided [RCV000848951] Chr4:93326311..93569881 [GRCh37]
Chr4:4q22.1
pathogenic
GRCh37/hg19 4q22.1(chr4:92578212-93362064)x1 copy number loss not provided [RCV001005573] Chr4:92578212..93362064 [GRCh37]
Chr4:4q22.1
uncertain significance
NM_001510.4(GRID2):c.75G>C (p.Ser25=) single nucleotide variant not provided [RCV000937859] Chr4:92304731 [GRCh38]
Chr4:93225882 [GRCh37]
Chr4:4q22.1
likely benign
GRCh37/hg19 4q22.1-22.2(chr4:93426934-93754475)x1 copy number loss not provided [RCV000846442] Chr4:93426934..93754475 [GRCh37]
Chr4:4q22.1-22.2
pathogenic
NM_001510.4(GRID2):c.568C>T (p.Gln190Ter) single nucleotide variant Spinocerebellar ataxia, autosomal recessive 18 [RCV001195712] Chr4:93110786 [GRCh38]
Chr4:94031937 [GRCh37]
Chr4:4q22.2
pathogenic
NM_001510.4(GRID2):c.1936T>C (p.Ser646Pro) single nucleotide variant not provided [RCV000998243] Chr4:93490716 [GRCh38]
Chr4:94411867 [GRCh37]
Chr4:4q22.2
uncertain significance
GRCh37/hg19 4q22.2(chr4:94678521-94743853)x3 copy number gain not provided [RCV000847096] Chr4:94678521..94743853 [GRCh37]
Chr4:4q22.2
uncertain significance
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) single nucleotide variant not provided [RCV001677382] Chr4:93224942 [GRCh38]
Chr4:94146093 [GRCh37]
Chr4:4q22.2
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001597356] Chr4:93455524 [GRCh38]
Chr4:94376675 [GRCh37]
Chr4:4q22.2
benign
NM_001510.4(GRID2):c.735+196T>C single nucleotide variant not provided [RCV001534056] Chr4:93111149 [GRCh38]
Chr4:94032300 [GRCh37]
Chr4:4q22.2
benign
NM_032043.3(BRIP1):c.1795-12_1795-10del single nucleotide variant not provided [RCV001717565] Chr4:93515546 [GRCh38]
Chr4:94436697 [GRCh37]
Chr4:4q22.2
benign
null single nucleotide variant not provided [RCV001670667] Chr4:93422891 [GRCh38]
Chr4:94344042 [GRCh37]
Chr4:4q22.2
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001686469] Chr4:93490402 [GRCh38]
Chr4:94411553 [GRCh37]
Chr4:4q22.2
benign
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) single nucleotide variant not provided [RCV001677794] Chr4:93626206 [GRCh38]
Chr4:94547357 [GRCh37]
Chr4:4q22.2
benign
NM_001510.4(GRID2):c.2229A>C (p.Ala743=) single nucleotide variant not provided [RCV000907074] Chr4:93626304 [GRCh38]
Chr4:94547455 [GRCh37]
Chr4:4q22.2
likely benign
NM_001510.4(GRID2):c.978C>T (p.Tyr326=) single nucleotide variant not provided [RCV000886524] Chr4:93224628 [GRCh38]
Chr4:94145779 [GRCh37]
Chr4:4q22.2
likely benign
NM_001510.4(GRID2):c.417T>C (p.Asn139=) single nucleotide variant not provided [RCV000922700] Chr4:93085167 [GRCh38]
Chr4:94006318 [GRCh37]
Chr4:4q22.2
likely benign
NM_001510.4(GRID2):c.2977C>T (p.Leu993=) single nucleotide variant not provided [RCV000897154] Chr4:93772451 [GRCh38]
Chr4:94693602 [GRCh37]
Chr4:4q22.2
likely benign
NM_001510.4(GRID2):c.2331C>A (p.Gly777=) single nucleotide variant not provided [RCV000924187] Chr4:93626406 [GRCh38]
Chr4:94547557 [GRCh37]
Chr4:4q22.2
likely benign
NM_001510.4(GRID2):c.2445G>A (p.Ser815=) single nucleotide variant not provided [RCV000932971] Chr4:93769294 [GRCh38]
Chr4:94690445 [GRCh37]
Chr4:4q22.2
likely benign
NM_001510.4(GRID2):c.1803G>A (p.Thr601=) single nucleotide variant not provided [RCV000910469] Chr4:93455919 [GRCh38]
Chr4:94377070 [GRCh37]
Chr4:4q22.2
likely benign
NM_001510.4(GRID2):c.1482C>T (p.His494=) single nucleotide variant not provided [RCV000934469] Chr4:93422905 [GRCh38]
Chr4:94344056 [GRCh37]
Chr4:4q22.2
benign
NM_001510.4(GRID2):c.300G>A (p.Thr100=) single nucleotide variant not provided [RCV000956235] Chr4:93085050 [GRCh38]
Chr4:94006201 [GRCh37]
Chr4:4q22.2
benign
NM_001510.4(GRID2):c.529+10T>C single nucleotide variant not provided [RCV000912008] Chr4:93085289 [GRCh38]
Chr4:94006440 [GRCh37]
Chr4:4q22.2
benign
NM_001510.4(GRID2):c.1125+306G>A single nucleotide variant not provided [RCV001540952] Chr4:93225081 [GRCh38]
Chr4:94146232 [GRCh37]
Chr4:4q22.2
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001661058] Chr4:93238689 [GRCh38]
Chr4:94159840 [GRCh37]
Chr4:4q22.2
benign
NM_032043.3(BRIP1):c.1795-12_1795-10del deletion not provided [RCV001717558] Chr4:92590533 [GRCh38]
Chr4:93511684 [GRCh37]
Chr4:4q22.1
benign
NM_032043.3(BRIP1):c.1795-12_1795-10del single nucleotide variant not provided [RCV001717564] Chr4:93490455 [GRCh38]
Chr4:94411606 [GRCh37]
Chr4:4q22.2
benign
NM_032043.3(BRIP1):c.1795-12_1795-10del single nucleotide variant not provided [RCV001717641] Chr4:93238311 [GRCh38]
Chr4:94159462 [GRCh37]
Chr4:4q22.2
benign
GRCh37/hg19 4q22.2(chr4:94095172-94522431)x3 copy number gain not provided [RCV001005575] Chr4:94095172..94522431 [GRCh37]
Chr4:4q22.2
uncertain significance
GRCh37/hg19 4q22.1(chr4:92787339-93628151)x3 copy number gain not provided [RCV001005574] Chr4:92787339..93628151 [GRCh37]
Chr4:4q22.1
uncertain significance
NM_001510.4(GRID2):c.735+21G>C single nucleotide variant Spinocerebellar ataxia, autosomal recessive 18 [RCV001703112]|not provided [RCV001528057] Chr4:93110974 [GRCh38]
Chr4:94032125 [GRCh37]
Chr4:4q22.2
benign
null single nucleotide variant not provided [RCV001641610] Chr4:92304923 [GRCh38]
Chr4:93226074 [GRCh37]
Chr4:4q22.1
benign
NM_032043.3(BRIP1):c.1795-12_1795-10del single nucleotide variant not provided [RCV001718309] Chr4:93626058 [GRCh38]
Chr4:94547209 [GRCh37]
Chr4:4q22.2
benign
NM_032043.3(BRIP1):c.1795-12_1795-10del single nucleotide variant not provided [RCV001717559] Chr4:93238619 [GRCh38]
Chr4:94159770 [GRCh37]
Chr4:4q22.2
benign
NM_032043.3(BRIP1):c.1795-12_1795-10del single nucleotide variant not provided [RCV001718308] Chr4:92590330 [GRCh38]
Chr4:93511481 [GRCh37]
Chr4:4q22.1
benign
null single nucleotide variant not provided [RCV001611218] Chr4:93423103 [GRCh38]
Chr4:94344254 [GRCh37]
Chr4:4q22.2
benign
GRCh37/hg19 4q22.2-24(chr4:94692345-101308220)x1 copy number loss not provided [RCV001259285] Chr4:94692345..101308220 [GRCh37]
Chr4:4q22.2-24
likely pathogenic
NM_001510.4(GRID2):c.121G>T (p.Asp41Tyr) single nucleotide variant Spinocerebellar ataxia, autosomal recessive 18 [RCV001333951] Chr4:92590163 [GRCh38]
Chr4:93511314 [GRCh37]
Chr4:4q22.1
uncertain significance
NM_001510.4(GRID2):c.736-249C>T single nucleotide variant not provided [RCV001536312] Chr4:93207155 [GRCh38]
Chr4:94128306 [GRCh37]
Chr4:4q22.2
benign
GRCh37/hg19 4q22.1(chr4:92705918-93334346)x3 copy number gain not provided [RCV001259279] Chr4:92705918..93334346 [GRCh37]
Chr4:4q22.1
likely benign
GRCh37/hg19 4q22.1(chr4:92491756-93233588)x3 copy number gain not provided [RCV001259280] Chr4:92491756..93233588 [GRCh37]
Chr4:4q22.1
likely benign
GRCh37/hg19 4q22.1(chr4:93018090-93566468)x3 copy number gain not provided [RCV001259281] Chr4:93018090..93566468 [GRCh37]
Chr4:4q22.1
uncertain significance
GRCh37/hg19 4q22.1(chr4:91852768-93447869)x1 copy number loss not provided [RCV001259283] Chr4:91852768..93447869 [GRCh37]
Chr4:4q22.1
uncertain significance
NM_001510.4(GRID2):c.1961C>G (p.Ala654Gly) single nucleotide variant Inborn genetic diseases [RCV001266355] Chr4:93490741 [GRCh38]
Chr4:94411892 [GRCh37]
Chr4:4q22.2
pathogenic
NM_001510.4(GRID2):c.1658A>G (p.Glu553Gly) single nucleotide variant Spinocerebellar ataxia, autosomal recessive 18 [RCV001328843] Chr4:93455774 [GRCh38]
Chr4:94376925 [GRCh37]
Chr4:4q22.2
uncertain significance
NM_001510.4(GRID2):c.1913G>A (p.Trp638Ter) single nucleotide variant not provided [RCV001280789] Chr4:93490693 [GRCh38]
Chr4:94411844 [GRCh37]
Chr4:4q22.2
likely pathogenic
GRCh37/hg19 4q22.1(chr4:93238754-93306710)x1 copy number loss See cases [RCV001270260] Chr4:93238754..93306710 [GRCh37]
Chr4:4q22.1
uncertain significance
null single nucleotide variant not provided [RCV001611074] Chr4:92590399 [GRCh38]
Chr4:93511550 [GRCh37]
Chr4:4q22.1
benign
null single nucleotide variant not provided [RCV001613565] Chr4:93238700 [GRCh38]
Chr4:94159851 [GRCh37]
Chr4:4q22.2
benign
NM_001510.4(GRID2):c.1458C>T (p.Tyr486=) single nucleotide variant not provided [RCV001540521] Chr4:93422881 [GRCh38]
Chr4:94344032 [GRCh37]
Chr4:4q22.2
benign
null single nucleotide variant not provided [RCV001694922] Chr4:92304340 [GRCh38]
Chr4:93225491 [GRCh37]
Chr4:4q22.1
benign
null single nucleotide variant not provided [RCV001674270] Chr4:93238507 [GRCh38]
Chr4:94159658 [GRCh37]
Chr4:4q22.2
benign
NM_003560.4(PLA2G6):c.172G>A (p.Val58Ile) single nucleotide variant not provided [RCV001676236] Chr4:93395612 [GRCh38]
Chr4:94316763 [GRCh37]
Chr4:4q22.2
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4576 AgrOrtholog
COSMIC GRID2 COSMIC
Ensembl Genes ENSG00000152208 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000282020 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000421257 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000422845 UniProtKB/TrEMBL
  ENSP00000423331 UniProtKB/TrEMBL
  ENSP00000425794 UniProtKB/TrEMBL
  ENSP00000483084 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000490775 UniProtKB/TrEMBL
Ensembl Transcript ENST00000282020 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000502699 UniProtKB/TrEMBL
  ENST00000510992 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000512631 UniProtKB/TrEMBL
  ENST00000513976 UniProtKB/TrEMBL
  ENST00000611049 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000637838 UniProtKB/TrEMBL
GTEx ENSG00000152208 GTEx
HGNC ID HGNC:4576 ENTREZGENE
Human Proteome Map GRID2 Human Proteome Map
InterPro ANF_lig-bd_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glu/Gly-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IGluR_D UniProtKB/TrEMBL
  Iono_rcpt_met UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Iontro_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peripla_BP_I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2895 UniProtKB/Swiss-Prot
NCBI Gene 2895 ENTREZGENE
OMIM 602368 OMIM
  616204 OMIM
PANTHER PTHR36687 UniProtKB/TrEMBL
Pfam ANF_receptor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lig_chan UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lig_chan-Glu_bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28971 PharmGKB
PRINTS NMDARECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Lig_chan-Glu_bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PBPe UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53822 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087X043_HUMAN UniProtKB/TrEMBL
  A0A1B0GW49_HUMAN UniProtKB/TrEMBL
  D6R976_HUMAN UniProtKB/TrEMBL
  D6R9W8_HUMAN UniProtKB/TrEMBL
  GRID2_HUMAN UniProtKB/Swiss-Prot
  H0YA12_HUMAN UniProtKB/TrEMBL
  O43424 ENTREZGENE
  Q4W5B7_HUMAN UniProtKB/TrEMBL
  Q4W5F4_HUMAN UniProtKB/TrEMBL
  Q4W5L9_HUMAN UniProtKB/TrEMBL
  Q4W5S4_HUMAN UniProtKB/TrEMBL
UniProt Secondary E9PH24 UniProtKB/Swiss-Prot
  Q4KKU8 UniProtKB/Swiss-Prot
  Q4KKU9 UniProtKB/Swiss-Prot
  Q4KKV0 UniProtKB/Swiss-Prot
  Q59FZ1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 GRID2  glutamate ionotropic receptor delta type subunit 2    glutamate receptor, ionotropic, delta 2  Symbol and/or name change 5135510 APPROVED