GRINA (glutamate ionotropic receptor NMDA type subunit associated protein 1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: GRINA (glutamate ionotropic receptor NMDA type subunit associated protein 1) Homo sapiens
Analyze
Symbol: GRINA
Name: glutamate ionotropic receptor NMDA type subunit associated protein 1
RGD ID: 1606337
HGNC Page HGNC
Description: Predicted to have ion channel binding activity. Predicted to be involved in endoplasmic reticulum calcium ion homeostasis and negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway. Predicted to localize to Golgi apparatus; endoplasmic reticulum; and integral component of membrane; INTERACTS WITH 17beta-estradiol; 2-hydroxypropanoic acid; 3-isobutyl-1-methyl-7H-xanthine.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: glutamate [NMDA] receptor-associated protein 1; glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding); glutamate receptor, NMDA subtype, glutamate-binding subunit; HNRGW; LFG1; lifeguard 1; MGC99687; NMDA receptor glutamate-binding subunit; NMDARA1; protein lifeguard 1; putative MAPK-activating protein PM02; TMBIM3; transmembrane BAX inhibitor motif containing 3; transmembrane BAX inhibitor motif-containing protein 3
RGD Orthologs
Mouse
Rat
Chinchilla
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 Ensembl8143,990,056 - 143,993,415 (+)EnsemblGRCh38hg38GRCh38
GRCh388143,990,056 - 143,993,415 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,064,224 - 145,067,583 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,136,214 - 145,139,571 (+)NCBINCBI36hg18NCBI36
Cytogenetic Map8q24.3NCBI
HuRef8140,305,288 - 140,323,781 (+)NCBIHuRef
CHM1_18145,104,475 - 145,107,832 (+)NCBICHM1_1
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
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-acetamidofluorene  (ISO)
2-butoxyethanol  (ISO)
2-hydroxypropanoic acid  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
5-fluorouracil  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
amiodarone  (ISO)
atrazine  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (EXP)
bexarotene  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
C60 fullerene  (ISO)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP)
clobetasol  (ISO)
clofibrate  (ISO)
cocaine  (ISO)
cyclosporin A  (EXP)
dexamethasone  (EXP)
diazinon  (ISO)
dibutyl phthalate  (ISO)
dieldrin  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
finasteride  (ISO)
folic acid  (ISO)
gentamycin  (ISO)
indometacin  (EXP)
isoprenaline  (ISO)
L-ethionine  (ISO)
methamphetamine  (ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
nickel atom  (ISO)
omeprazole  (ISO)
paracetamol  (EXP,ISO)
pentachlorophenol  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
rac-lactic acid  (EXP)
raloxifene  (ISO)
resveratrol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
selenium atom  (EXP)
sunitinib  (EXP)
tamibarotene  (EXP)
thioacetamide  (ISO)
tungsten  (ISO)
valproic acid  (EXP,ISO)
vitamin E  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1719427   PMID:7695237   PMID:8406459   PMID:8563977   PMID:8581564   PMID:8724036   PMID:8786101   PMID:8804048   PMID:8821747   PMID:8822372   PMID:8845955   PMID:8955056  
PMID:9651389   PMID:9745929   PMID:10197777   PMID:10448428   PMID:10555109   PMID:11483648   PMID:11606043   PMID:12414113   PMID:12477932   PMID:12761501   PMID:12775422   PMID:14644469  
PMID:15749123   PMID:16341674   PMID:16481105   PMID:16489129   PMID:18440869   PMID:18976975   PMID:19526283   PMID:20837469   PMID:21948112   PMID:22114277   PMID:22240901   PMID:22552781  
PMID:23267846   PMID:24086760   PMID:25764978   PMID:26990286   PMID:28298427   PMID:28597972   PMID:29549164   PMID:30541591   PMID:30730609   PMID:31426446   PMID:32296183   PMID:32657216  


Genomics

Comparative Map Data
GRINA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8143,990,056 - 143,993,415 (+)EnsemblGRCh38hg38GRCh38
GRCh388143,990,056 - 143,993,415 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,064,224 - 145,067,583 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,136,214 - 145,139,571 (+)NCBINCBI36hg18NCBI36
Cytogenetic Map8q24.3NCBI
HuRef8140,305,288 - 140,323,781 (+)NCBIHuRef
CHM1_18145,104,475 - 145,107,832 (+)NCBICHM1_1
Grina
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,130,917 - 76,134,109 (+)NCBIGRCm39mm39
GRCm39 Ensembl1576,130,964 - 76,134,104 (+)Ensembl
GRCm381576,246,717 - 76,249,909 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,246,764 - 76,249,904 (+)EnsemblGRCm38mm10GRCm38
MGSCv371576,077,237 - 76,080,334 (+)NCBIGRCm37mm9NCBIm37
MGSCv361576,074,062 - 76,077,159 (+)NCBImm8
Celera1577,746,755 - 77,749,852 (+)NCBICelera
Cytogenetic Map15D3NCBI
Grina
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27107,962,194 - 107,965,368 (+)NCBI
Rnor_6.0 Ensembl7117,304,742 - 117,307,916 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07117,304,742 - 117,307,916 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07117,290,445 - 117,293,621 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,277,208 - 114,280,339 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17114,311,439 - 114,314,569 (+)NCBI
Celera7104,314,740 - 104,317,914 (+)NCBICelera
Cytogenetic Map7q34NCBI
Grina
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554542,658,490 - 2,660,021 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554542,657,374 - 2,660,591 (+)NCBIChiLan1.0ChiLan1.0
GRINA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,512,129 - 37,514,303 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,512,217 - 37,514,257 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,475,101 - 37,478,196 (+)NCBI
ROS_Cfam_1.01337,987,687 - 37,990,781 (+)NCBI
UMICH_Zoey_3.11337,659,794 - 37,662,885 (+)NCBI
UNSW_CanFamBas_1.01337,787,997 - 37,791,086 (+)NCBI
UU_Cfam_GSD_1.01338,264,550 - 38,267,645 (+)NCBI
Grina
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303754,364 - 757,621 (-)NCBI
SpeTri2.0NW_0049364708,180,468 - 8,183,694 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GRINA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4682,834 - 686,116 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14682,823 - 686,144 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
GRINA
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,199,642 - 138,202,989 (+)NCBI
ChlSab1.1 Ensembl8138,200,792 - 138,202,453 (+)Ensembl
Grina
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473512,820,678 - 12,823,920 (-)NCBI

Position Markers
RH80294  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,067,336 - 145,067,557UniSTSGRCh37
Build 368145,139,324 - 145,139,545RGDNCBI36
Cytogenetic Map8q24.3UniSTS
HuRef8140,323,534 - 140,323,755UniSTS
SHGC-153430  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,061,294 - 145,061,640UniSTSGRCh37
Build 368145,133,282 - 145,133,628RGDNCBI36
Celera8141,375,489 - 141,375,835RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,317,874 - 140,318,220UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3822
Count of miRNA genes:896
Interacting mature miRNAs:1103
Transcripts:ENST00000313269, ENST00000395068, ENST00000525513, ENST00000527194, ENST00000529301, ENST00000530898, ENST00000531992, ENST00000533044, ENST00000533377, ENST00000534791
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 116 3 3 116 3 5 1 39 2
Medium 2430 2860 1720 619 1820 461 4350 2192 3710 416 1412 1607 171 1204 2788 4
Low 8 15 3 2 14 1 2 5 24 2 9 4 4 1 2 2
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_000837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001009184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB097026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC109322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC084553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM762447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ682451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB925977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB937983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB942716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB954087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB966685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC983386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC995392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HD000126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HD011497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HD024095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U44954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000313269   ⟹   ENSP00000314380
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,990,058 - 143,993,415 (+)Ensembl
RefSeq Acc Id: ENST00000395068   ⟹   ENSP00000378507
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,990,056 - 143,993,415 (+)Ensembl
RefSeq Acc Id: ENST00000525513
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,991,533 - 143,992,508 (+)Ensembl
RefSeq Acc Id: ENST00000527194   ⟹   ENSP00000431217
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,991,747 - 143,993,094 (+)Ensembl
RefSeq Acc Id: ENST00000529301   ⟹   ENSP00000432706
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,990,083 - 143,992,373 (+)Ensembl
RefSeq Acc Id: ENST00000530898   ⟹   ENSP00000436807
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,990,677 - 143,991,526 (+)Ensembl
RefSeq Acc Id: ENST00000531992
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,991,294 - 143,991,963 (+)Ensembl
RefSeq Acc Id: ENST00000533044   ⟹   ENSP00000432095
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,991,556 - 143,992,822 (+)Ensembl
RefSeq Acc Id: ENST00000533377
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,992,174 - 143,992,974 (+)Ensembl
RefSeq Acc Id: ENST00000534791   ⟹   ENSP00000435901
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,991,454 - 143,992,839 (+)Ensembl
RefSeq Acc Id: NM_000837   ⟹   NP_000828
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,990,056 - 143,993,415 (+)NCBI
GRCh378145,064,226 - 145,067,596 (+)NCBI
Build 368145,136,214 - 145,139,571 (+)NCBI Archive
HuRef8140,305,288 - 140,323,781 (+)ENTREZGENE
CHM1_18145,104,475 - 145,107,832 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001009184   ⟹   NP_001009184
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,990,056 - 143,993,415 (+)NCBI
GRCh378145,064,226 - 145,067,596 (+)NCBI
Build 368145,136,214 - 145,139,571 (+)NCBI Archive
HuRef8140,305,288 - 140,323,781 (+)ENTREZGENE
CHM1_18145,104,475 - 145,107,832 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000828   ⟸   NM_000837
- UniProtKB: Q7Z429 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001009184   ⟸   NM_001009184
- UniProtKB: Q7Z429 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000436807   ⟸   ENST00000530898
RefSeq Acc Id: ENSP00000432095   ⟸   ENST00000533044
RefSeq Acc Id: ENSP00000435901   ⟸   ENST00000534791
RefSeq Acc Id: ENSP00000314380   ⟸   ENST00000313269
RefSeq Acc Id: ENSP00000431217   ⟸   ENST00000527194
RefSeq Acc Id: ENSP00000378507   ⟸   ENST00000395068
RefSeq Acc Id: ENSP00000432706   ⟸   ENST00000529301

Promoters
RGD ID:7214417
Promoter ID:EPDNEW_H12952
Type:initiation region
Name:GRINA_1
Description:glutamate ionotropic receptor NMDA type subunit associated protein1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,990,101 - 143,990,161EPDNEW
RGD ID:6806784
Promoter ID:HG_KWN:62303
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_000837,   NM_001009184
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,135,994 - 145,136,494 (+)MPROMDB
RGD ID:6806785
Promoter ID:HG_KWN:62304
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:UC003ZAP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,136,826 - 145,137,326 (+)MPROMDB
RGD ID:6815641
Promoter ID:HG_MRA:16141
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:AL157442
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,137,931 - 145,139,027 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:143684819-144287978)x1 copy number loss See cases [RCV000054310] Chr8:143684819..144287978 [GRCh38]
Chr8:144940777..145511679 [GRCh37]
Chr8:144838977..145482487 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1 copy number loss See cases [RCV000135981] Chr8:142201468..144002730 [GRCh38]
Chr8:143282829..145076898 [GRCh37]
Chr8:143280736..145148886 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1 copy number loss See cases [RCV000140913] Chr8:141738068..144140607 [GRCh38]
Chr8:142764538..145195510 [GRCh37]
Chr8:142823655..145267498 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144725942-145508436)x3 copy number gain See cases [RCV000447256] Chr8:144725942..145508436 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3 copy number gain See cases [RCV000510396] Chr8:144779442..146113113 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144879444-145199846) copy number loss Verheij syndrome [RCV000767560] Chr8:144879444..145199846 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144992269-145067467)x3 copy number gain not provided [RCV000748000] Chr8:144992269..145067467 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV000823255] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_144990325)_(145700664_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV000808636] Chr8:144990325..145700664 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV001327821] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3 copy number gain not provided [RCV001270667] Chr8:145033244..146297937 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_145047561)_(145701149_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV001301200] Chr8:145047561..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4589 AgrOrtholog
COSMIC GRINA COSMIC
Ensembl Genes ENSG00000178719 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000314380 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000378507 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000431217 UniProtKB/TrEMBL
  ENSP00000432095 UniProtKB/TrEMBL
  ENSP00000432706 UniProtKB/TrEMBL
  ENSP00000435901 UniProtKB/TrEMBL
  ENSP00000436807 UniProtKB/TrEMBL
Ensembl Transcript ENST00000313269 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000395068 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000527194 UniProtKB/TrEMBL
  ENST00000529301 UniProtKB/TrEMBL
  ENST00000530898 UniProtKB/TrEMBL
  ENST00000533044 UniProtKB/TrEMBL
  ENST00000534791 UniProtKB/TrEMBL
GTEx ENSG00000178719 GTEx
HGNC ID HGNC:4589 ENTREZGENE
Human Proteome Map GRINA Human Proteome Map
InterPro Bax_inhibitor_1-related UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2907 UniProtKB/Swiss-Prot
NCBI Gene 2907 ENTREZGENE
OMIM 138251 OMIM
PANTHER PTHR23291 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Bax1-I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28985 PharmGKB
UniProt E9PPG3_HUMAN UniProtKB/TrEMBL
  E9PQF8_HUMAN UniProtKB/TrEMBL
  H0YC98_HUMAN UniProtKB/TrEMBL
  H0YCP9_HUMAN UniProtKB/TrEMBL
  H0YEI4_HUMAN UniProtKB/TrEMBL
  LFG1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B3KXM7 UniProtKB/Swiss-Prot
  O43836 UniProtKB/Swiss-Prot
  Q8IVW7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 GRINA  glutamate ionotropic receptor NMDA type subunit associated protein 1    glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)  Symbol and/or name change 5135510 APPROVED