GABRA4 (gamma-aminobutyric acid type A receptor subunit alpha4) - Rat Genome Database

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Gene: GABRA4 (gamma-aminobutyric acid type A receptor subunit alpha4) Homo sapiens
Analyze
Symbol: GABRA4
Name: gamma-aminobutyric acid type A receptor subunit alpha4
RGD ID: 734147
HGNC Page HGNC:4078
Description: Predicted to enable GABA-gated chloride ion channel activity. Predicted to contribute to GABA-A receptor activity; benzodiazepine receptor activity; and chloride channel activity. Involved in chloride transmembrane transport and gamma-aminobutyric acid signaling pathway. Part of GABA-A receptor complex. Implicated in autistic disorder. Biomarker of autistic disorder.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: GABA(A) receptor subunit alpha-4; GABA(A) receptor, alpha 4; GABAAR subunit alpha-4; gamma-aminobutyric acid (GABA) A receptor, alpha 4; gamma-aminobutyric acid A receptor alpha 4; gamma-aminobutyric acid receptor subunit alpha-4; gamma-aminobutyric acid type A receptor alpha4 subunit
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38446,918,900 - 46,993,581 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl446,918,900 - 46,993,581 (-)EnsemblGRCh38hg38GRCh38
GRCh37446,920,917 - 46,995,598 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36446,615,674 - 46,690,337 (-)NCBINCBI36Build 36hg18NCBI36
Build 34446,761,846 - 46,836,508NCBI
Celera447,369,879 - 47,444,600 (-)NCBICelera
Cytogenetic Map4p12NCBI
HuRef446,239,865 - 46,315,415 (-)NCBIHuRef
CHM1_1446,920,103 - 46,995,631 (-)NCBICHM1_1
T2T-CHM13v2.0446,886,225 - 46,960,936 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Ataxia  (EXP)
autistic disorder  (EXP,IAGP,IEP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
3alpha-hydroxy-5beta-pregnan-20-one  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
amitriptyline  (ISO)
ammonium chloride  (ISO)
androgen antagonist  (ISO)
arsenite(3-)  (EXP)
atrazine  (EXP)
benzamide  (EXP,ISO)
benzo[a]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bleomycin A2  (ISO)
Butylparaben  (ISO)
chlorpyrifos  (ISO)
Cuprizon  (ISO)
DDE  (ISO)
delta-hexachlorocyclohexane  (EXP)
diazepam  (ISO)
dibutyl phthalate  (ISO)
diethylstilbestrol  (ISO)
dinitrogen oxide  (ISO)
doxorubicin  (EXP)
enzacamene  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
felbamate  (EXP)
fipronil  (EXP)
flumazenil  (ISO)
folic acid  (ISO)
folpet  (ISO)
furosemide  (ISO)
gamma-aminobutyric acid  (EXP,ISO)
isoflurane  (ISO)
isotretinoin  (EXP)
ketoconazole  (ISO)
linuron  (ISO)
lipopolysaccharide  (EXP)
Lorazepam  (ISO)
methylmercury chloride  (ISO)
midazolam  (ISO)
morphine  (ISO)
niclosamide  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
pentobarbital  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
picrotoxinin  (EXP)
pioglitazone  (ISO)
pirinixic acid  (ISO)
prochloraz  (ISO)
procymidone  (ISO)
progesterone  (ISO)
propofol  (ISO)
razoxane  (ISO)
resveratrol  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
streptozocin  (ISO)
tacrine  (ISO)
Testosterone propionate  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
vinclozolin  (ISO)
XL147  (ISO)
zaleplon  (ISO)
zolpidem  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. Investigation of autism and GABA receptor subunit genes in multiple ethnic groups. Collins AL, etal., Neurogenetics. 2006 Jul;7(3):167-74. Epub 2006 Jun 13.
2. mRNA and protein levels for GABAAalpha4, alpha5, beta1 and GABABR1 receptors are altered in brains from subjects with autism. Fatemi SH, etal., J Autism Dev Disord. 2010 Jun;40(6):743-50.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7607683   PMID:8175718   PMID:8719416   PMID:10414349   PMID:10903861   PMID:12091471   PMID:12242096   PMID:12477932   PMID:14702039   PMID:15028279   PMID:16080114   PMID:17124266  
PMID:17135278   PMID:18334916   PMID:18482426   PMID:19078961   PMID:19207358   PMID:19289452   PMID:19736351   PMID:19834535   PMID:19874574   PMID:19913121   PMID:20468064   PMID:20602615  
PMID:20628086   PMID:21244100   PMID:21422964   PMID:21832049   PMID:21873635   PMID:21988832   PMID:22273344   PMID:23561058   PMID:23937595   PMID:24431441   PMID:24722188   PMID:24778259  
PMID:26239769   PMID:29135068   PMID:29151244   PMID:29299688   PMID:29720720   PMID:29987050   PMID:31690811   PMID:32028044   PMID:35152403   PMID:35355020   PMID:38565639  


Genomics

Comparative Map Data
GABRA4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38446,918,900 - 46,993,581 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl446,918,900 - 46,993,581 (-)EnsemblGRCh38hg38GRCh38
GRCh37446,920,917 - 46,995,598 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36446,615,674 - 46,690,337 (-)NCBINCBI36Build 36hg18NCBI36
Build 34446,761,846 - 46,836,508NCBI
Celera447,369,879 - 47,444,600 (-)NCBICelera
Cytogenetic Map4p12NCBI
HuRef446,239,865 - 46,315,415 (-)NCBIHuRef
CHM1_1446,920,103 - 46,995,631 (-)NCBICHM1_1
T2T-CHM13v2.0446,886,225 - 46,960,936 (-)NCBIT2T-CHM13v2.0
Gabra4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39571,727,077 - 71,815,651 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl571,727,092 - 71,815,651 (-)EnsemblGRCm39 Ensembl
GRCm38571,569,734 - 71,658,308 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl571,569,749 - 71,658,308 (-)EnsemblGRCm38mm10GRCm38
MGSCv37571,960,973 - 72,049,547 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36571,848,869 - 71,937,443 (-)NCBIMGSCv36mm8
Celera568,834,068 - 68,922,930 (-)NCBICelera
Cytogenetic Map5C3.2NCBI
cM Map538.08NCBI
Gabra4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81436,944,747 - 37,021,652 (+)NCBIGRCr8
mRatBN7.21436,590,782 - 36,667,724 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1436,590,782 - 36,665,844 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1436,935,370 - 37,010,517 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01438,240,130 - 38,315,273 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01436,728,476 - 36,803,610 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01439,154,072 - 39,230,994 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1439,154,529 - 39,231,695 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01438,966,016 - 39,040,606 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41439,047,461 - 39,122,531 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11439,049,851 - 39,124,917 (+)NCBI
Celera1435,813,603 - 35,888,671 (+)NCBICelera
Cytogenetic Map14p11NCBI
Gabra4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554431,564,202 - 1,632,580 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554431,564,794 - 1,631,975 (+)NCBIChiLan1.0ChiLan1.0
GABRA4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2380,876,574 - 80,952,059 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1481,138,247 - 81,213,682 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0475,163,796 - 75,240,049 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1485,894,401 - 85,970,077 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl485,894,401 - 85,960,783 (+)Ensemblpanpan1.1panPan2
GABRA4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11342,889,100 - 42,958,604 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1342,897,655 - 42,959,206 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1342,690,028 - 42,908,686 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01343,345,979 - 43,564,367 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1343,500,264 - 43,565,899 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11343,023,386 - 43,242,431 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01343,085,285 - 43,303,834 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01343,439,087 - 43,657,538 (-)NCBIUU_Cfam_GSD_1.0
Gabra4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528533,123,748 - 33,190,987 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648213,109,803 - 13,174,492 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648213,109,803 - 13,174,492 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GABRA4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl836,874,331 - 36,942,773 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1836,875,649 - 36,943,016 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2838,744,693 - 38,811,740 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GABRA4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1273,253,789 - 3,323,102 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl273,254,735 - 3,321,128 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604749,315,895 - 49,393,069 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gabra4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476120,071,316 - 20,132,098 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476120,071,343 - 20,132,523 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GABRA4
37 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000809.3(GABRA4):c.*3958A>G single nucleotide variant Lung cancer [RCV000094851] Chr4:46924267 [GRCh38]
Chr4:46926284 [GRCh37]
Chr4:4p12		 uncertain significance
GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3 copy number gain See cases [RCV000050683] Chr4:44356201..62245882 [GRCh38]
Chr4:44358218..63111600 [GRCh37]
Chr4:44052975..62794195 [NCBI36]
Chr4:4p13-q13.1		 pathogenic
GRCh38/hg38 4p13-11(chr4:44577678-49081273)x3 copy number gain See cases [RCV000051770] Chr4:44577678..49081273 [GRCh38]
Chr4:44579695..49083290 [GRCh37]
Chr4:44274452..48778047 [NCBI36]
Chr4:4p13-11		 pathogenic
GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3 copy number gain See cases [RCV000134946] Chr4:40496476..49579850 [GRCh38]
Chr4:40498493..49581867 [GRCh37]
Chr4:40193250..49276624 [NCBI36]
Chr4:4p14-11		 pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12		 pathogenic
GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3 copy number gain See cases [RCV000240190] Chr4:38532827..49064044 [GRCh37]
Chr4:4p14-11		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not specified [RCV003986479] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV002292704] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11		 pathogenic
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
NM_000809.4(GABRA4):c.87-21dup duplication not specified [RCV000455379] Chr4:46992955..46992956 [GRCh38]
Chr4:46994972..46994973 [GRCh37]
Chr4:4p12		 benign
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
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1		 pathogenic
NM_000809.4(GABRA4):c.1427G>A (p.Arg476His) single nucleotide variant not specified [RCV004329440] Chr4:46928463 [GRCh38]
Chr4:46930480 [GRCh37]
Chr4:4p12		 likely benign
NM_000809.4(GABRA4):c.859G>T (p.Ala287Ser) single nucleotide variant not specified [RCV004303380] Chr4:46971098 [GRCh38]
Chr4:46973115 [GRCh37]
Chr4:4p12		 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 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p13-12(chr4:42193789-47001790)x3 copy number gain not provided [RCV000682397] Chr4:42193789..47001790 [GRCh37]
Chr4:4p13-12		 uncertain significance
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 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
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11		 pathogenic
NM_000809.4(GABRA4):c.55G>A (p.Ala19Thr) single nucleotide variant not provided [RCV000948676] Chr4:46993370 [GRCh38]
Chr4:46995387 [GRCh37]
Chr4:4p12		 benign
NM_000809.4(GABRA4):c.1431C>T (p.His477=) single nucleotide variant not provided [RCV000903181] Chr4:46928459 [GRCh38]
Chr4:46930476 [GRCh37]
Chr4:4p12		 benign
NM_000809.4(GABRA4):c.136G>A (p.Glu46Lys) single nucleotide variant not specified [RCV004317788] Chr4:46992897 [GRCh38]
Chr4:46994914 [GRCh37]
Chr4:4p12		 uncertain significance
NM_000809.4(GABRA4):c.1005C>T (p.Ile335=) single nucleotide variant not provided [RCV000898285] Chr4:46965099 [GRCh38]
Chr4:46967116 [GRCh37]
Chr4:4p12		 benign
GRCh37/hg19 4p12-11(chr4:45868775-48273513)x3 copy number gain Autism [RCV000993707] Chr4:45868775..48273513 [GRCh37]
Chr4:4p12-11		 likely pathogenic
NM_000809.4(GABRA4):c.1626A>G (p.Leu542=) single nucleotide variant not provided [RCV000940447] Chr4:46928264 [GRCh38]
Chr4:46930281 [GRCh37]
Chr4:4p12		 likely benign
NM_000809.4(GABRA4):c.375G>A (p.Thr125=) single nucleotide variant not provided [RCV000910035] Chr4:46977529 [GRCh38]
Chr4:46979546 [GRCh37]
Chr4:4p12		 likely benign
NM_000809.4(GABRA4):c.975C>G (p.Val325=) single nucleotide variant not provided [RCV000913305] Chr4:46965129 [GRCh38]
Chr4:46967146 [GRCh37]
Chr4:4p12		 likely benign
NM_000809.4(GABRA4):c.273+7A>G single nucleotide variant not provided [RCV000935194] Chr4:46979024 [GRCh38]
Chr4:46981041 [GRCh37]
Chr4:4p12		 likely benign
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11		 pathogenic
NC_000004.11:g.(?_46252325)_(47163506_?)del deletion not provided [RCV001967602] Chr4:46252325..47163506 [GRCh37]
Chr4:4p12		 uncertain significance
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 copy number gain FETAL DEMISE [RCV002282978] Chr4:114784..47569569 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NM_000809.4(GABRA4):c.718A>T (p.Thr240Ser) single nucleotide variant not specified [RCV004107426] Chr4:46974235 [GRCh38]
Chr4:46976252 [GRCh37]
Chr4:4p12		 uncertain significance
NM_000809.4(GABRA4):c.694T>G (p.Ser232Ala) single nucleotide variant not specified [RCV004136098] Chr4:46974259 [GRCh38]
Chr4:46976276 [GRCh37]
Chr4:4p12		 uncertain significance
NM_000809.4(GABRA4):c.1402G>C (p.Ala468Pro) single nucleotide variant not specified [RCV004206259] Chr4:46928488 [GRCh38]
Chr4:46930505 [GRCh37]
Chr4:4p12		 uncertain significance
NM_000809.4(GABRA4):c.691G>C (p.Val231Leu) single nucleotide variant not specified [RCV004130294] Chr4:46974262 [GRCh38]
Chr4:46976279 [GRCh37]
Chr4:4p12		 uncertain significance
NM_000809.4(GABRA4):c.619G>T (p.Gly207Cys) single nucleotide variant not specified [RCV004112149] Chr4:46974334 [GRCh38]
Chr4:46976351 [GRCh37]
Chr4:4p12		 uncertain significance
NM_000809.4(GABRA4):c.1197T>G (p.Asp399Glu) single nucleotide variant not specified [RCV004194034] Chr4:46928693 [GRCh38]
Chr4:46930710 [GRCh37]
Chr4:4p12		 uncertain significance
NM_000809.4(GABRA4):c.1277G>A (p.Arg426Gln) single nucleotide variant not specified [RCV004189703] Chr4:46928613 [GRCh38]
Chr4:46930630 [GRCh37]
Chr4:4p12		 likely benign
NM_000809.4(GABRA4):c.1184A>G (p.His395Arg) single nucleotide variant not specified [RCV004265321] Chr4:46928706 [GRCh38]
Chr4:46930723 [GRCh37]
Chr4:4p12		 uncertain significance
NM_000809.4(GABRA4):c.1087C>T (p.Pro363Ser) single nucleotide variant GABRA4-related Epileptic and Neurodevelopmental Disorder [RCV003228617] Chr4:46965017 [GRCh38]
Chr4:46967034 [GRCh37]
Chr4:4p12		 uncertain significance
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 copy number gain Neurodevelopmental disorder [RCV003327611] Chr4:1..49062177 [GRCh38]
Chr4:4p16.3-11		 pathogenic
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 copy number gain Neurodevelopmental disorder [RCV003327613] Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12		 pathogenic
NM_000809.4(GABRA4):c.376A>C (p.Lys126Gln) single nucleotide variant not specified [RCV004358661] Chr4:46977528 [GRCh38]
Chr4:46979545 [GRCh37]
Chr4:4p12		 uncertain significance
NM_000809.4(GABRA4):c.899C>A (p.Thr300Asn) single nucleotide variant GABRA4-related developmental and epileptic encephalopathy [RCV003484218] Chr4:46965205 [GRCh38]
Chr4:46967222 [GRCh37]
Chr4:4p12		 uncertain significance
NM_000809.4(GABRA4):c.899C>T (p.Thr300Ile) single nucleotide variant not provided [RCV003490907] Chr4:46965205 [GRCh38]
Chr4:46967222 [GRCh37]
Chr4:4p12		 uncertain significance
NM_000809.4(GABRA4):c.1063A>G (p.Thr355Ala) single nucleotide variant GABRA4-related disorder [RCV003929801] Chr4:46965041 [GRCh38]
Chr4:46967058 [GRCh37]
Chr4:4p12		 likely benign
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
NM_000809.4(GABRA4):c.1474A>G (p.Thr492Ala) single nucleotide variant not specified [RCV004390127] Chr4:46928416 [GRCh38]
Chr4:46930433 [GRCh37]
Chr4:4p12		 uncertain significance
NM_000809.4(GABRA4):c.1110G>C (p.Glu370Asp) single nucleotide variant not specified [RCV004390124] Chr4:46964994 [GRCh38]
Chr4:46967011 [GRCh37]
Chr4:4p12		 uncertain significance
NM_000809.4(GABRA4):c.334G>A (p.Gly112Ser) single nucleotide variant not specified [RCV004390130] Chr4:46977570 [GRCh38]
Chr4:46979587 [GRCh37]
Chr4:4p12		 uncertain significance
NM_000809.4(GABRA4):c.1656T>A (p.Ser552Arg) single nucleotide variant not specified [RCV004390129] Chr4:46928234 [GRCh38]
Chr4:46930251 [GRCh37]
Chr4:4p12		 uncertain significance
NM_000809.4(GABRA4):c.1225C>G (p.His409Asp) single nucleotide variant not specified [RCV004390126] Chr4:46928665 [GRCh38]
Chr4:46930682 [GRCh37]
Chr4:4p12		 uncertain significance
NM_000809.4(GABRA4):c.1517C>T (p.Ser506Leu) single nucleotide variant not specified [RCV004390128] Chr4:46928373 [GRCh38]
Chr4:46930390 [GRCh37]
Chr4:4p12		 uncertain significance
NM_000809.4(GABRA4):c.341T>C (p.Ile114Thr) single nucleotide variant not specified [RCV004390132] Chr4:46977563 [GRCh38]
Chr4:46979580 [GRCh37]
Chr4:4p12		 uncertain significance
NM_000809.4(GABRA4):c.1393C>T (p.Pro465Ser) single nucleotide variant not specified [RCV004619042] Chr4:46928497 [GRCh38]
Chr4:46930514 [GRCh37]
Chr4:4p12		 likely benign
NM_000809.4(GABRA4):c.1408G>A (p.Val470Ile) single nucleotide variant not specified [RCV004619043] Chr4:46928482 [GRCh38]
Chr4:46930499 [GRCh37]
Chr4:4p12		 likely benign
NM_000809.4(GABRA4):c.634G>A (p.Val212Ile) single nucleotide variant not provided [RCV004729510] Chr4:46974319 [GRCh38]
Chr4:46976336 [GRCh37]
Chr4:4p12		 uncertain significance
NM_000809.4(GABRA4):c.869T>C (p.Val290Ala) single nucleotide variant not provided [RCV004764155]   uncertain significance
NM_000809.4(GABRA4):c.341T>A (p.Ile114Asn) single nucleotide variant not provided [RCV004766033] Chr4:46977563 [GRCh38]
Chr4:46979580 [GRCh37]
Chr4:4p12		 uncertain significance
NM_000809.4(GABRA4):c.594T>G (p.Ser198Arg) single nucleotide variant not provided [RCV004763850]   uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5691
Count of miRNA genes:1363
Interacting mature miRNAs:1784
Transcripts:ENST00000264318, ENST00000502874, ENST00000508560, ENST00000509316, ENST00000511523
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406974279GWAS623255_Heducational attainment QTL GWAS623255 (human)2e-08educational attainment44693560346935604Human
407235747GWAS884723_Hbone density QTL GWAS884723 (human)2e-65bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)44696395646963957Human
407113167GWAS762143_Hmathematical ability QTL GWAS762143 (human)3e-11mathematical ability44694775346947754Human
407147240GWAS796216_Htype 2 diabetes mellitus QTL GWAS796216 (human)0.000001type 2 diabetes mellitus44696603346966034Human
406975151GWAS624127_Halcohol consumption measurement QTL GWAS624127 (human)1e-10alcohol consumption measurementethanol drink intake rate (CMO:0001407)44695871346958714Human
406975150GWAS624126_Halcohol consumption measurement QTL GWAS624126 (human)1e-10alcohol consumption measurementethanol drink intake rate (CMO:0001407)44695871046958711Human
406975153GWAS624129_Halcohol consumption measurement QTL GWAS624129 (human)1e-10alcohol consumption measurementethanol drink intake rate (CMO:0001407)44696369646963697Human
406975152GWAS624128_Halcohol consumption measurement QTL GWAS624128 (human)1e-10alcohol consumption measurementethanol drink intake rate (CMO:0001407)44696152846961529Human
406993814GWAS642790_HMental deterioration QTL GWAS642790 (human)0.0000005Mental deterioration44694167046941671Human
407099351GWAS748327_Hmathematical ability QTL GWAS748327 (human)5e-08mathematical ability44694775346947754Human
406947960GWAS596936_Halcohol use disorder measurement, alcohol consumption measurement QTL GWAS596936 (human)1e-08alcohol use disorder measurement, alcohol consumption measurementethanol drink intake rate (CMO:0001407)44693835946938360Human
406898810GWAS547786_Halcohol consumption measurement QTL GWAS547786 (human)3e-08alcohol consumption measurementethanol drink intake rate (CMO:0001407)44692586946925870Human
406899450GWAS548426_Htonsillectomy risk measurement QTL GWAS548426 (human)0.000001tonsillectomy risk measurement44695854346958544Human
407231999GWAS880975_Hbone density QTL GWAS880975 (human)3e-58bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)44697363946973640Human

Markers in Region
D5S1969  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37446,980,273 - 46,981,838UniSTSGRCh37
GRCh37553,242,847 - 53,243,107UniSTSGRCh37
Build 36553,278,604 - 53,278,864RGDNCBI36
Celera447,429,267 - 47,430,834UniSTS
Celera550,196,476 - 50,196,724RGD
Cytogenetic Map4p12UniSTS
Cytogenetic Map5p15.2UniSTS
HuRef550,215,230 - 50,215,478UniSTS
HuRef446,299,237 - 46,300,804UniSTS
Marshfield Genetic Map560.92UniSTS
Marshfield Genetic Map560.92RGD
Genethon Genetic Map561.1UniSTS
deCODE Assembly Map568.9UniSTS
SHGC-67811  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37446,928,367 - 46,928,518UniSTSGRCh37
Build 36446,623,124 - 46,623,275RGDNCBI36
Celera447,377,329 - 47,377,480RGD
Cytogenetic Map4p12UniSTS
HuRef446,247,309 - 46,247,460UniSTS
G62895  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37446,940,380 - 46,940,677UniSTSGRCh37
Build 36446,635,137 - 46,635,434RGDNCBI36
Celera447,389,372 - 47,389,669RGD
Cytogenetic Map4p12UniSTS
HuRef446,259,324 - 46,259,621UniSTS
GDB:633093  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37446,995,094 - 46,995,317UniSTSGRCh37
Build 36446,689,851 - 46,690,074RGDNCBI36
Celera447,444,114 - 47,444,337RGD
Cytogenetic Map4p12UniSTS
HuRef446,314,085 - 46,314,308UniSTS
RH106543  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37446,961,749 - 46,961,940UniSTSGRCh37
Build 36446,656,506 - 46,656,697RGDNCBI36
Celera447,410,741 - 47,410,932RGD
Cytogenetic Map4p12UniSTS
HuRef446,280,716 - 46,280,907UniSTS
D4S3242  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37446,927,670 - 46,927,928UniSTSGRCh37
Build 36446,622,427 - 46,622,685RGDNCBI36
Celera447,376,632 - 47,376,890RGD
Cytogenetic Map4p12UniSTS
HuRef446,246,618 - 46,246,870UniSTS
D5Buc33  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37446,979,490 - 46,981,093UniSTSGRCh37
Celera447,428,484 - 47,430,089UniSTS
HuRef446,298,454 - 46,300,059UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
873 2031 2490 2179 4573 1084 1225 4 245 894 138 1979 5005 4633 7 3602 411 1167 945 112 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001204266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001204267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC107383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF238869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI599812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD013892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD013893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ535037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U20166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U30461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000264318   ⟹   ENSP00000264318
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl446,918,900 - 46,993,581 (-)Ensembl
Ensembl Acc Id: ENST00000502874   ⟹   ENSP00000424386
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl446,971,083 - 46,993,540 (-)Ensembl
Ensembl Acc Id: ENST00000508560   ⟹   ENSP00000425445
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl446,928,127 - 46,993,505 (-)Ensembl
Ensembl Acc Id: ENST00000509316
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl446,992,670 - 46,993,548 (-)Ensembl
Ensembl Acc Id: ENST00000511523   ⟹   ENSP00000422152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl446,928,127 - 46,993,505 (-)Ensembl
RefSeq Acc Id: NM_000809   ⟹   NP_000800
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38446,918,900 - 46,993,581 (-)NCBI
GRCh37446,920,917 - 46,996,424 (-)ENTREZGENE
Build 36446,615,674 - 46,690,337 (-)NCBI Archive
HuRef446,239,865 - 46,315,415 (-)ENTREZGENE
CHM1_1446,920,103 - 46,995,631 (-)NCBI
T2T-CHM13v2.0446,886,225 - 46,960,936 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001204266   ⟹   NP_001191195
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38446,918,900 - 46,993,581 (-)NCBI
GRCh37446,920,917 - 46,996,424 (-)ENTREZGENE
HuRef446,239,865 - 46,315,415 (-)ENTREZGENE
CHM1_1446,920,103 - 46,994,729 (-)NCBI
T2T-CHM13v2.0446,886,225 - 46,960,936 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001204267   ⟹   NP_001191196
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38446,918,900 - 46,993,581 (-)NCBI
GRCh37446,920,917 - 46,996,424 (-)ENTREZGENE
HuRef446,239,865 - 46,315,415 (-)ENTREZGENE
CHM1_1446,920,103 - 46,994,729 (-)NCBI
T2T-CHM13v2.0446,886,225 - 46,960,936 (-)NCBI
Sequence:
RefSeq Acc Id: NP_000800   ⟸   NM_000809
- Peptide Label: isoform 1 precursor
- UniProtKB: Q8IYR7 (UniProtKB/Swiss-Prot),   P48169 (UniProtKB/Swiss-Prot),   X5D7F5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001191196   ⟸   NM_001204267
- Peptide Label: isoform 3
- UniProtKB: P48169 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001191195   ⟸   NM_001204266
- Peptide Label: isoform 2
- UniProtKB: P48169 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000424386   ⟸   ENST00000502874
Ensembl Acc Id: ENSP00000425445   ⟸   ENST00000508560
Ensembl Acc Id: ENSP00000422152   ⟸   ENST00000511523
Ensembl Acc Id: ENSP00000264318   ⟸   ENST00000264318
Protein Domains
Neurotransmitter-gated ion-channel ligand-binding   Neurotransmitter-gated ion-channel transmembrane

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P48169-F1-model_v2 AlphaFold P48169 1-554 view protein structure

Promoters
RGD ID:6802335
Promoter ID:HG_KWN:48161
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000216893
Position:
Human AssemblyChrPosition (strand)Source
Build 36446,690,401 - 46,690,967 (-)MPROMDB
RGD ID:6867342
Promoter ID:EPDNEW_H6836
Type:initiation region
Name:GABRA4_1
Description:gamma-aminobutyric acid type A receptor alpha4 subunit
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
GRCh38446,993,532 - 46,993,592EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4078 AgrOrtholog
COSMIC GABRA4 COSMIC
Ensembl Genes ENSG00000109158 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000264318 ENTREZGENE
  ENST00000264318.4 UniProtKB/Swiss-Prot
  ENST00000502874.1 UniProtKB/TrEMBL
  ENST00000508560.5 UniProtKB/TrEMBL
  ENST00000511523.5 UniProtKB/TrEMBL
Gene3D-CATH 1.20.58.390 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.70.170.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000109158 GTEx
HGNC ID HGNC:4078 ENTREZGENE
Human Proteome Map GABRA4 Human Proteome Map
InterPro GABAA/Glycine_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GABAAa_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GABBAa4_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gabra-1-6_TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neur_chan_lig-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neur_chan_lig-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neur_channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neuro-gated_channel_TM_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neuro_actylchol_rec UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neurotrans-gated_channel_TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neurotransmitter_ion_chnl_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2557 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2557 ENTREZGENE
OMIM 137141 OMIM
PANTHER GAMMA-AMINOBUTYRIC ACID RECEPTOR SUBUNIT ALPHA-4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR18945 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Neur_chan_LBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neur_chan_memb UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28492 PharmGKB
PRINTS GABAARALPHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GABAARALPHA4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GABAARECEPTR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NRIONCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE NEUROTR_ION_CHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF63712 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF90112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D6R924_HUMAN UniProtKB/TrEMBL
  D6RB66_HUMAN UniProtKB/TrEMBL
  GBRA4_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q8IYR7 ENTREZGENE
  X5D7F5 ENTREZGENE, UniProtKB/TrEMBL
  X5DP75_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q8IYR7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-12-03 GABRA4  gamma-aminobutyric acid type A receptor subunit alpha4  GABRA4  gamma-aminobutyric acid type A receptor alpha4 subunit  Symbol and/or name change 5135510 APPROVED
2016-02-10 GABRA4  gamma-aminobutyric acid type A receptor alpha4 subunit    gamma-aminobutyric acid (GABA) A receptor, alpha 4  Symbol and/or name change 5135510 APPROVED