GM2A (GM2 ganglioside activator) - Rat Genome Database
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Gene: GM2A (GM2 ganglioside activator) Homo sapiens
Analyze
Symbol: GM2A
Name: GM2 ganglioside activator
RGD ID: 1353976
HGNC Page HGNC
Description: Predicted to have beta-N-acetylhexosaminidase activity. Predicted to be involved in nervous system process. Localizes to cytosol and intracellular membrane-bounded organelle. Implicated in GM2 gangliosidosis and GM2 gangliosidosis, AB variant.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: cerebroside sulfate activator protein; ganglioside GM2 activator; GM2-AP; SAP-3; shingolipid activator protein 3; sphingolipid activator protein 3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: GM2AP1   GM2AP2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl5151,212,150 - 151,270,440 (+)EnsemblGRCh38hg38GRCh38
GRCh385151,253,185 - 151,270,440 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh375150,632,746 - 150,650,001 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365150,612,837 - 150,629,000 (+)NCBINCBI36hg18NCBI36
Build 345150,612,836 - 150,629,000NCBI
Celera5146,713,960 - 146,731,303 (+)NCBI
Cytogenetic Map5q33.1NCBI
HuRef5145,777,975 - 145,795,318 (+)NCBIHuRef
CHM1_15150,065,374 - 150,082,713 (+)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
(S)-nicotine  (EXP)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP,ISO)
biochanin A  (EXP)
bisphenol A  (EXP,ISO)
butanal  (EXP)
cadmium atom  (EXP)
cadmium sulfate  (EXP)
choline  (ISO)
cisplatin  (EXP)
clobetasol  (ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
dicrotophos  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
entinostat  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
gentamycin  (ISO)
L-methionine  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
lead(II) chloride  (EXP)
maneb  (ISO)
methamphetamine  (ISO)
methyl methanesulfonate  (EXP)
methylparaben  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
nefazodone  (ISO)
nickel sulfate  (EXP)
nicotine  (EXP)
nimesulide  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
piroxicam  (EXP)
prednisolone  (EXP)
propanal  (EXP)
SB 431542  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
tetrachloromethane  (ISO)
thimerosal  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)
vorinostat  (EXP)
Yessotoxin  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

References

Additional References at PubMed
PMID:115863   PMID:1427911   PMID:1554364   PMID:1915857   PMID:1915858   PMID:2059210   PMID:2209618   PMID:2753159   PMID:3935131   PMID:6724528   PMID:6848657   PMID:8125298  
PMID:8244332   PMID:8288250   PMID:8503891   PMID:8900233   PMID:9204879   PMID:9217013   PMID:9568910   PMID:10752311   PMID:10987359   PMID:11090283   PMID:11508694   PMID:11672434  
PMID:12477932   PMID:12576516   PMID:12909021   PMID:14728689   PMID:15485660   PMID:15489334   PMID:16341674   PMID:17215249   PMID:18029348   PMID:18976975   PMID:19056867   PMID:19322201  
PMID:20301334   PMID:20379614   PMID:21036149   PMID:21331553   PMID:21784073   PMID:21873635   PMID:23376485   PMID:23483939   PMID:23533145   PMID:23568457   PMID:25324306   PMID:25468996  
PMID:25816011   PMID:26175473   PMID:26186194   PMID:27002480   PMID:27157270   PMID:27173435   PMID:27402091   PMID:28514442   PMID:31536960   PMID:31578452  


Genomics

Comparative Map Data
GM2A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl5151,212,150 - 151,270,440 (+)EnsemblGRCh38hg38GRCh38
GRCh385151,253,185 - 151,270,440 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh375150,632,746 - 150,650,001 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365150,612,837 - 150,629,000 (+)NCBINCBI36hg18NCBI36
Build 345150,612,836 - 150,629,000NCBI
Celera5146,713,960 - 146,731,303 (+)NCBI
Cytogenetic Map5q33.1NCBI
HuRef5145,777,975 - 145,795,318 (+)NCBIHuRef
CHM1_15150,065,374 - 150,082,713 (+)NCBICHM1_1
Gm2a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391154,988,811 - 55,003,855 (+)NCBIGRCm39mm39
GRCm39 Ensembl1154,988,941 - 55,003,855 (+)Ensembl
GRCm381155,097,985 - 55,113,029 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1155,098,115 - 55,113,029 (+)EnsemblGRCm38mm10GRCm38
MGSCv371154,911,619 - 54,924,400 (+)NCBIGRCm37mm9NCBIm37
MGSCv361154,941,540 - 54,954,321 (+)NCBImm8
Celera1159,688,047 - 59,700,826 (+)NCBICelera
Cytogenetic Map11B1.3NCBI
cM Map1132.13NCBI
Gm2a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21039,219,221 - 39,231,756 (+)NCBI
Rnor_6.0 Ensembl1040,438,356 - 40,450,930 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01040,438,394 - 40,450,927 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01040,277,005 - 40,289,541 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41040,502,175 - 40,514,708 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11040,515,797 - 40,528,331 (+)NCBI
Celera1038,556,830 - 38,569,363 (+)NCBICelera
Cytogenetic Map10q22NCBI
Gm2a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554082,442,406 - 2,449,426 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554082,442,406 - 2,449,426 (-)NCBIChiLan1.0ChiLan1.0
GM2A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.15152,680,745 - 152,697,018 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5152,680,696 - 152,697,018 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v05146,680,277 - 146,696,505 (+)NCBIMhudiblu_PPA_v0panPan3
GM2A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl458,003,946 - 58,015,753 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1458,002,438 - 58,016,003 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Gm2a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049366474,126,524 - 4,140,800 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GM2A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1671,742,090 - 71,754,884 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11671,742,090 - 71,767,872 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21677,974,674 - 78,000,601 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GM2A
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12353,808,447 - 53,831,489 (+)NCBI
Gm2a
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473341,141,507 - 41,152,957 (+)NCBI

Position Markers
D3S3426  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373145,402,434 - 145,402,610UniSTSGRCh37
Build 363146,885,124 - 146,885,300RGDNCBI36
Celera3143,823,984 - 143,824,160RGD
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map3q24UniSTS
HuRef3142,782,518 - 142,782,694UniSTS
Whitehead-YAC Contig Map3 UniSTS
GM2A_1758  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375150,648,056 - 150,648,845UniSTSGRCh37
Build 365150,628,249 - 150,629,038RGDNCBI36
Celera5146,729,404 - 146,730,193RGD
HuRef5145,793,419 - 145,794,208UniSTS
WI-10510  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375150,638,984 - 150,639,233UniSTSGRCh37
Build 365150,619,177 - 150,619,426RGDNCBI36
Celera5146,720,332 - 146,720,581RGD
Cytogenetic Map5q33.1UniSTS
HuRef5145,784,348 - 145,784,597UniSTS
Whitehead-RH Map5499.2UniSTS
D5S2404  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375150,647,023 - 150,647,351UniSTSGRCh37
Build 365150,627,216 - 150,627,544RGDNCBI36
Celera5146,728,371 - 146,728,699RGD
Cytogenetic Map5q33.1UniSTS
HuRef5145,792,386 - 145,792,714UniSTS
Stanford-G3 RH Map55525.0UniSTS
Whitehead-YAC Contig Map5 UniSTS
GeneMap99-G3 RH Map55613.0UniSTS
RH77939  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375150,649,509 - 150,649,696UniSTSGRCh37
Build 365150,629,702 - 150,629,889RGDNCBI36
Celera5146,730,857 - 146,731,044RGD
Cytogenetic Map5q33.1UniSTS
HuRef5145,794,872 - 145,795,059UniSTS
GeneMap99-GB4 RH Map5580.61UniSTS
NCBI RH Map5891.6UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
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Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
GDB:194298  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q33.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1506
Count of miRNA genes:885
Interacting mature miRNAs:1040
Transcripts:ENST00000357164, ENST00000523004, ENST00000523466
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


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 1 1
Medium 2156 2536 1236 365 1819 234 3501 1134 3252 332 1415 1432 144 1130 1969 4
Low 276 447 487 257 128 230 854 1059 456 86 33 173 27 74 819
Below cutoff 1 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001167607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF173832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM834780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX473154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L01439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M76477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X16087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X61094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X61095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X62078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000357164   ⟹   ENSP00000349687
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5151,253,185 - 151,270,440 (+)Ensembl
RefSeq Acc Id: ENST00000523004   ⟹   ENSP00000430541
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5151,259,799 - 151,267,255 (+)Ensembl
RefSeq Acc Id: ENST00000523466   ⟹   ENSP00000429100
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5151,212,150 - 151,266,880 (+)Ensembl
RefSeq Acc Id: NM_000405   ⟹   NP_000396
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,253,185 - 151,270,440 (+)NCBI
GRCh375150,632,613 - 150,650,083 (+)NCBI
Build 365150,612,837 - 150,629,000 (+)NCBI Archive
HuRef5145,777,975 - 145,795,318 (+)ENTREZGENE
CHM1_15150,065,374 - 150,082,713 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001167607   ⟹   NP_001161079
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,253,185 - 151,270,394 (+)NCBI
GRCh375150,632,613 - 150,650,083 (+)NCBI
HuRef5145,777,975 - 145,795,318 (+)ENTREZGENE
CHM1_15150,065,374 - 150,082,713 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000396   ⟸   NM_000405
- Peptide Label: isoform 1 precursor
- UniProtKB: P17900 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001161079   ⟸   NM_001167607
- Peptide Label: isoform 2 precursor
- Sequence:
RefSeq Acc Id: ENSP00000429100   ⟸   ENST00000523466
RefSeq Acc Id: ENSP00000430541   ⟸   ENST00000523004
RefSeq Acc Id: ENSP00000349687   ⟸   ENST00000357164
Protein Domains
ML

Promoters
RGD ID:6803223
Promoter ID:HG_KWN:51560
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001167607,   OTTHUMT00000252432
Position:
Human AssemblyChrPosition (strand)Source
Build 365150,612,366 - 150,612,997 (+)MPROMDB
RGD ID:6852052
Promoter ID:EP73832
Type:multiple initiation site
Name:HS_GM2A
Description:GM2 ganglioside activator protein.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 365150,612,939 - 150,612,999EPD
RGD ID:6803224
Promoter ID:HG_KWN:51561
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC003LTT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 365150,618,554 - 150,619,054 (+)MPROMDB
RGD ID:6871314
Promoter ID:EPDNEW_H8822
Type:initiation region
Name:GM2A_3
Description:GM2 ganglioside activator
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8820  EPDNEW_H8823  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,252,804 - 151,252,864EPDNEW
RGD ID:6871316
Promoter ID:EPDNEW_H8823
Type:initiation region
Name:GM2A_1
Description:GM2 ganglioside activator
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8820  EPDNEW_H8822  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,253,185 - 151,253,245EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000405.5(GM2A):c.412T>C (p.Cys138Arg) single nucleotide variant Tay-Sachs disease, variant AB [RCV000000421] Chr5:151266899 [GRCh38]
Chr5:150646460 [GRCh37]
Chr5:5q33.1
pathogenic
NM_000405.5(GM2A):c.506G>C (p.Arg169Pro) single nucleotide variant Tay-Sachs disease, variant AB [RCV000000422] Chr5:151267375 [GRCh38]
Chr5:150646936 [GRCh37]
Chr5:5q33.1
pathogenic
GM2A, 3-BP DEL, 262AAG deletion Tay-Sachs disease, variant AB [RCV000000423] Chr5:5q31.3-q33.1 pathogenic
GM2A, 1-BP DEL, 410A deletion Tay-Sachs disease, variant AB [RCV000000424] Chr5:5q31.3-q33.1 pathogenic
NM_000405.5(GM2A):c.160G>T (p.Glu54Ter) single nucleotide variant Tay-Sachs disease, variant AB [RCV000000425] Chr5:151259833 [GRCh38]
Chr5:150639394 [GRCh37]
Chr5:5q33.1
pathogenic
NM_000405.5(GM2A):c.333del (p.Cys112fs) deletion Tay-Sachs disease [RCV000087094] Chr5:151266820 [GRCh38]
Chr5:150646381 [GRCh37]
Chr5:5q33.1
pathogenic
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 copy number gain See cases [RCV000051193] Chr5:130860928..155321811 [GRCh38]
Chr5:130196621..154701371 [GRCh37]
Chr5:130224520..154681564 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 copy number gain See cases [RCV000051863] Chr5:149714592..181272151 [GRCh38]
Chr5:149094155..180699152 [GRCh37]
Chr5:149074348..180631758 [NCBI36]
Chr5:5q32-35.3
pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2
pathogenic
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 copy number gain See cases [RCV000138808] Chr5:129847794..153353546 [GRCh38]
Chr5:129183487..152733106 [GRCh37]
Chr5:129211386..152713299 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
NM_000405.5(GM2A):c.175A>G (p.Ile59Val) single nucleotide variant Tay-Sachs disease, variant AB [RCV000376352]|not provided [RCV000675621]|not specified [RCV000153332] Chr5:151259848 [GRCh38]
Chr5:150639409 [GRCh37]
Chr5:5q33.1
benign
NM_000405.5(GM2A):c.205A>G (p.Met69Val) single nucleotide variant Tay-Sachs disease, variant AB [RCV000286625]|not provided [RCV000675622]|not specified [RCV000153333] Chr5:151259878 [GRCh38]
Chr5:150639439 [GRCh37]
Chr5:5q33.1
benign
NM_000405.5(GM2A):c.582A>G (p.Ter194=) single nucleotide variant Tay-Sachs disease, variant AB [RCV000278116]|not provided [RCV000675625]|not specified [RCV000153334] Chr5:151267451 [GRCh38]
Chr5:150647012 [GRCh37]
Chr5:5q33.1
benign
NM_000405.5(GM2A):c.164C>T (p.Pro55Leu) single nucleotide variant Neurodegenerative illness progressing to crippling dystonia and death with relentless cerebral atrophy [RCV000162097]|Tay-Sachs disease, variant AB [RCV000235077] Chr5:151259837 [GRCh38]
Chr5:150639398 [GRCh37]
Chr5:5q33.1
pathogenic|likely pathogenic
NM_000405.5(GM2A):c.*1695C>A single nucleotide variant Tay-Sachs disease, variant AB [RCV000259499] Chr5:151269146 [GRCh38]
Chr5:150648707 [GRCh37]
Chr5:5q33.1
benign|likely benign
NM_000405.5(GM2A):c.*536G>T single nucleotide variant Tay-Sachs disease, variant AB [RCV000261008] Chr5:151267987 [GRCh38]
Chr5:150647548 [GRCh37]
Chr5:5q33.1
benign|likely benign
NM_000405.5(GM2A):c.*376del deletion Tay-Sachs disease, variant AB [RCV000264629] Chr5:151267816 [GRCh38]
Chr5:150647377 [GRCh37]
Chr5:5q33.1
benign
NM_000405.5(GM2A):c.55G>A (p.Ala19Thr) single nucleotide variant Tay-Sachs disease, variant AB [RCV000384587]|not provided [RCV000675620]|not specified [RCV000250898] Chr5:151253271 [GRCh38]
Chr5:150632832 [GRCh37]
Chr5:5q33.1
benign|likely benign
NM_000405.5(GM2A):c.*723dup duplication Tay-Sachs disease, variant AB [RCV000281511] Chr5:151268161..151268162 [GRCh38]
Chr5:150647722..150647723 [GRCh37]
Chr5:5q33.1
benign
NM_000405.4(GM2A):c.-44G>A single nucleotide variant Tay-Sachs disease, variant AB [RCV000270337] Chr5:151253173 [GRCh38]
Chr5:150632734 [GRCh37]
Chr5:5q33.1
benign|likely benign
NM_000405.5(GM2A):c.78A>T (p.Lys26Asn) single nucleotide variant Tay-Sachs disease, variant AB [RCV000271517] Chr5:151253294 [GRCh38]
Chr5:150632855 [GRCh37]
Chr5:5q33.1
likely benign|uncertain significance
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3
likely benign
NM_000405.5(GM2A):c.*28C>T single nucleotide variant Tay-Sachs disease, variant AB [RCV000337841]|not provided [RCV000675626]|not specified [RCV000250018] Chr5:151267479 [GRCh38]
Chr5:150647040 [GRCh37]
Chr5:5q33.1
benign
NM_000405.5(GM2A):c.*255C>T single nucleotide variant Tay-Sachs disease, variant AB [RCV000273102] Chr5:151267706 [GRCh38]
Chr5:150647267 [GRCh37]
Chr5:5q33.1
likely benign|uncertain significance
NM_000405.5(GM2A):c.*241C>T single nucleotide variant Tay-Sachs disease, variant AB [RCV000313470] Chr5:151267692 [GRCh38]
Chr5:150647253 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*1241T>C single nucleotide variant Tay-Sachs disease, variant AB [RCV000397988] Chr5:151268692 [GRCh38]
Chr5:150648253 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*704T>A single nucleotide variant Tay-Sachs disease, variant AB [RCV000376003] Chr5:151268155 [GRCh38]
Chr5:150647716 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*1445G>A single nucleotide variant Tay-Sachs disease, variant AB [RCV000354305] Chr5:151268896 [GRCh38]
Chr5:150648457 [GRCh37]
Chr5:5q33.1
benign
NM_000405.5(GM2A):c.*1866C>T single nucleotide variant Tay-Sachs disease, variant AB [RCV000355568] Chr5:151269317 [GRCh38]
Chr5:150648878 [GRCh37]
Chr5:5q33.1
benign
NM_000405.5(GM2A):c.*2767C>T single nucleotide variant Tay-Sachs disease, variant AB [RCV000356511] Chr5:151270218 [GRCh38]
Chr5:150649779 [GRCh37]
Chr5:5q33.1
benign|likely benign
NM_000405.5(GM2A):c.*426C>T single nucleotide variant Tay-Sachs disease, variant AB [RCV000378981] Chr5:151267877 [GRCh38]
Chr5:150647438 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*1246A>G single nucleotide variant Tay-Sachs disease, variant AB [RCV000302774] Chr5:151268697 [GRCh38]
Chr5:150648258 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*1274dup duplication Tay-Sachs disease, variant AB [RCV000357750] Chr5:151268723..151268724 [GRCh38]
Chr5:150648284..150648285 [GRCh37]
Chr5:5q33.1
benign
NM_000405.5(GM2A):c.*944T>C single nucleotide variant Tay-Sachs disease, variant AB [RCV000287549] Chr5:151268395 [GRCh38]
Chr5:150647956 [GRCh37]
Chr5:5q33.1
benign
NM_000405.5(GM2A):c.*1410A>C single nucleotide variant Tay-Sachs disease, variant AB [RCV000304177] Chr5:151268861 [GRCh38]
Chr5:150648422 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*1829C>T single nucleotide variant Tay-Sachs disease, variant AB [RCV000319402] Chr5:151269280 [GRCh38]
Chr5:150648841 [GRCh37]
Chr5:5q33.1
benign|likely benign
NM_000405.5(GM2A):c.*938G>A single nucleotide variant Tay-Sachs disease, variant AB [RCV000404489] Chr5:151268389 [GRCh38]
Chr5:150647950 [GRCh37]
Chr5:5q33.1
benign
NM_000405.5(GM2A):c.*2695G>A single nucleotide variant Tay-Sachs disease, variant AB [RCV000404785] Chr5:151270146 [GRCh38]
Chr5:150649707 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*2519G>A single nucleotide variant Tay-Sachs disease, variant AB [RCV000290201] Chr5:151269970 [GRCh38]
Chr5:150649531 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*2529G>A single nucleotide variant Tay-Sachs disease, variant AB [RCV000340618] Chr5:151269980 [GRCh38]
Chr5:150649541 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*356C>A single nucleotide variant Tay-Sachs disease, variant AB [RCV000359612] Chr5:151267807 [GRCh38]
Chr5:150647368 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*144T>C single nucleotide variant Tay-Sachs disease, variant AB [RCV000406353] Chr5:151267595 [GRCh38]
Chr5:150647156 [GRCh37]
Chr5:5q33.1
benign
NM_000405.5(GM2A):c.126G>A (p.Gly42=) single nucleotide variant Tay-Sachs disease, variant AB [RCV000321739] Chr5:151259799 [GRCh38]
Chr5:150639360 [GRCh37]
Chr5:5q33.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000405.5(GM2A):c.254T>G (p.Val85Gly) single nucleotide variant Tay-Sachs disease, variant AB [RCV000341668] Chr5:151266741 [GRCh38]
Chr5:150646302 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*2643G>T single nucleotide variant Tay-Sachs disease, variant AB [RCV000341577] Chr5:151270094 [GRCh38]
Chr5:150649655 [GRCh37]
Chr5:5q33.1
likely benign|uncertain significance
NM_000405.5(GM2A):c.*245G>A single nucleotide variant Tay-Sachs disease, variant AB [RCV000363025] Chr5:151267696 [GRCh38]
Chr5:150647257 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*824C>A single nucleotide variant Tay-Sachs disease, variant AB [RCV000386188] Chr5:151268275 [GRCh38]
Chr5:150647836 [GRCh37]
Chr5:5q33.1
benign|uncertain significance
NM_000405.5(GM2A):c.*401G>A single nucleotide variant Tay-Sachs disease, variant AB [RCV000324415] Chr5:151267852 [GRCh38]
Chr5:150647413 [GRCh37]
Chr5:5q33.1
benign|likely benign
NM_000405.5(GM2A):c.-7C>G single nucleotide variant Tay-Sachs disease, variant AB [RCV000325440] Chr5:151253210 [GRCh38]
Chr5:150632771 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*2430T>C single nucleotide variant Tay-Sachs disease, variant AB [RCV000326691] Chr5:151269881 [GRCh38]
Chr5:150649442 [GRCh37]
Chr5:5q33.1
benign|likely benign
NM_000405.5(GM2A):c.*2141C>T single nucleotide variant Tay-Sachs disease, variant AB [RCV000295093] Chr5:151269592 [GRCh38]
Chr5:150649153 [GRCh37]
Chr5:5q33.1
benign
NM_000405.5(GM2A):c.*1239dup duplication Tay-Sachs disease, variant AB [RCV000347139] Chr5:151268681..151268682 [GRCh38]
Chr5:150648242..150648243 [GRCh37]
Chr5:5q33.1
benign
NM_000405.5(GM2A):c.*226C>T single nucleotide variant Tay-Sachs disease, variant AB [RCV000348512] Chr5:151267677 [GRCh38]
Chr5:150647238 [GRCh37]
Chr5:5q33.1
likely benign|uncertain significance
NM_000405.4(GM2A):c.-102A>G single nucleotide variant Tay-Sachs disease, variant AB [RCV000369671] Chr5:151253115 [GRCh38]
Chr5:150632676 [GRCh37]
Chr5:5q33.1
benign
NM_000405.5(GM2A):c.*860C>T single nucleotide variant Tay-Sachs disease, variant AB [RCV000296591] Chr5:151268311 [GRCh38]
Chr5:150647872 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*2717_*2720del deletion Tay-Sachs disease, variant AB [RCV000297292] Chr5:151270165..151270168 [GRCh38]
Chr5:150649726..150649729 [GRCh37]
Chr5:5q33.1
benign
NM_000405.5(GM2A):c.*2849G>A single nucleotide variant Tay-Sachs disease, variant AB [RCV000312088] Chr5:151270300 [GRCh38]
Chr5:150649861 [GRCh37]
Chr5:5q33.1
benign
NM_000405.5(GM2A):c.*1994A>G single nucleotide variant Tay-Sachs disease, variant AB [RCV000330280] Chr5:151269445 [GRCh38]
Chr5:150649006 [GRCh37]
Chr5:5q33.1
benign
NM_000405.5(GM2A):c.*227A>G single nucleotide variant Tay-Sachs disease, variant AB [RCV000394134] Chr5:151267678 [GRCh38]
Chr5:150647239 [GRCh37]
Chr5:5q33.1
benign
NM_000405.5(GM2A):c.458T>C (p.Val153Ala) single nucleotide variant Tay-Sachs disease, variant AB [RCV000372708]|not provided [RCV000675624] Chr5:151267327 [GRCh38]
Chr5:150646888 [GRCh37]
Chr5:5q33.1
benign|likely benign
NM_000405.5(GM2A):c.*2801A>G single nucleotide variant Tay-Sachs disease, variant AB [RCV000395484] Chr5:151270252 [GRCh38]
Chr5:150649813 [GRCh37]
Chr5:5q33.1
benign|likely benign
NM_000405.5(GM2A):c.*722_*723dup duplication Tay-Sachs disease, variant AB [RCV000350521] Chr5:151268161..151268162 [GRCh38]
Chr5:150647722..150647723 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*1899G>C single nucleotide variant Tay-Sachs disease, variant AB [RCV000275246] Chr5:151269350 [GRCh38]
Chr5:150648911 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*568G>A single nucleotide variant Tay-Sachs disease, variant AB [RCV000316721] Chr5:151268019 [GRCh38]
Chr5:150647580 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*2550C>T single nucleotide variant Tay-Sachs disease, variant AB [RCV000402882] Chr5:151270001 [GRCh38]
Chr5:150649562 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*2479C>T single nucleotide variant Tay-Sachs disease, variant AB [RCV000384650] Chr5:151269930 [GRCh38]
Chr5:150649491 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*868T>C single nucleotide variant Tay-Sachs disease, variant AB [RCV000351499] Chr5:151268319 [GRCh38]
Chr5:150647880 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*2113G>A single nucleotide variant Tay-Sachs disease, variant AB [RCV000389438] Chr5:151269564 [GRCh38]
Chr5:150649125 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*2624C>T single nucleotide variant Tay-Sachs disease, variant AB [RCV000286558] Chr5:151270075 [GRCh38]
Chr5:150649636 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*274A>G single nucleotide variant Tay-Sachs disease, variant AB [RCV000309508] Chr5:151267725 [GRCh38]
Chr5:150647286 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*188A>T single nucleotide variant Tay-Sachs disease, variant AB [RCV000312300] Chr5:151267639 [GRCh38]
Chr5:150647200 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*1362G>C single nucleotide variant Tay-Sachs disease, variant AB [RCV000397999] Chr5:151268813 [GRCh38]
Chr5:150648374 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*1068A>G single nucleotide variant Tay-Sachs disease, variant AB [RCV001152131] Chr5:151268519 [GRCh38]
Chr5:150648080 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*257C>G single nucleotide variant Tay-Sachs disease, variant AB [RCV001152026] Chr5:151267708 [GRCh38]
Chr5:150647269 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.472G>T (p.Glu158Ter) single nucleotide variant Tay-Sachs disease, variant AB [RCV000416329] Chr5:151267341 [GRCh38]
Chr5:150646902 [GRCh37]
Chr5:5q33.1
pathogenic|likely pathogenic
NM_000405.5(GM2A):c.244-2A>T single nucleotide variant Tay-Sachs disease, variant AB [RCV000416363] Chr5:151266729 [GRCh38]
Chr5:150646290 [GRCh37]
Chr5:5q33.1
likely pathogenic
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 copy number gain See cases [RCV000449349] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3
pathogenic
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2
pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NC_000005.10:g.(?_151253197)_(151267660_?)del deletion Tay-Sachs disease, variant AB [RCV000634578] Chr5:151253197..151267660 [GRCh38]
Chr5:150632758..150647221 [GRCh37]
Chr5:5q33.1
pathogenic
NM_000405.5(GM2A):c.427-22C>T single nucleotide variant not provided [RCV000675623] Chr5:151267274 [GRCh38]
Chr5:150646835 [GRCh37]
Chr5:5q33.1
likely benign
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_000405.5(GM2A):c.379G>A (p.Glu127Lys) single nucleotide variant Tay-Sachs disease, variant AB [RCV000761512] Chr5:151266866 [GRCh38]
Chr5:150646427 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.413G>A (p.Cys138Tyr) single nucleotide variant not provided [RCV000762178] Chr5:151266900 [GRCh38]
Chr5:150646461 [GRCh37]
Chr5:5q33.1
likely pathogenic
NM_000405.5(GM2A):c.11T>A (p.Leu4Gln) single nucleotide variant Tay-Sachs disease, variant AB [RCV001037876] Chr5:151253227 [GRCh38]
Chr5:150632788 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.427-4G>A single nucleotide variant not provided [RCV000899624] Chr5:151267292 [GRCh38]
Chr5:150646853 [GRCh37]
Chr5:5q33.1
likely benign
NM_000405.5(GM2A):c.33C>T (p.Ile11=) single nucleotide variant Tay-Sachs disease, variant AB [RCV001153186]|not provided [RCV000897047] Chr5:151253249 [GRCh38]
Chr5:150632810 [GRCh37]
Chr5:5q33.1
benign|likely benign
NM_000405.5(GM2A):c.522G>C (p.Leu174=) single nucleotide variant not provided [RCV000927555] Chr5:151267391 [GRCh38]
Chr5:150646952 [GRCh37]
Chr5:5q33.1
likely benign
NM_000405.5(GM2A):c.39G>A (p.Leu13=) single nucleotide variant Tay-Sachs disease, variant AB [RCV000808931] Chr5:151253255 [GRCh38]
Chr5:150632816 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*1673A>G single nucleotide variant Tay-Sachs disease, variant AB [RCV001152133] Chr5:151269124 [GRCh38]
Chr5:150648685 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*2452A>C single nucleotide variant Tay-Sachs disease, variant AB [RCV001156010] Chr5:151269903 [GRCh38]
Chr5:150649464 [GRCh37]
Chr5:5q33.1
uncertain significance
NC_000005.10:g.151253134C>G single nucleotide variant Tay-Sachs disease, variant AB [RCV001153184] Chr5:151253134 [GRCh38]
Chr5:150632695 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*286C>T single nucleotide variant Tay-Sachs disease, variant AB [RCV001153297] Chr5:151267737 [GRCh38]
Chr5:150647298 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*91C>A single nucleotide variant Tay-Sachs disease, variant AB [RCV001157499] Chr5:151267542 [GRCh38]
Chr5:150647103 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*903C>T single nucleotide variant Tay-Sachs disease, variant AB [RCV001157599] Chr5:151268354 [GRCh38]
Chr5:150647915 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.138G>A (p.Ala46=) single nucleotide variant not provided [RCV000922283] Chr5:151259811 [GRCh38]
Chr5:150639372 [GRCh37]
Chr5:5q33.1
likely benign
NM_000405.5(GM2A):c.*410C>T single nucleotide variant Tay-Sachs disease, variant AB [RCV001153300] Chr5:151267861 [GRCh38]
Chr5:150647422 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*133C>T single nucleotide variant Tay-Sachs disease, variant AB [RCV001157500] Chr5:151267584 [GRCh38]
Chr5:150647145 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.129G>A (p.Lys43=) single nucleotide variant not provided [RCV000913187] Chr5:151259802 [GRCh38]
Chr5:150639363 [GRCh37]
Chr5:5q33.1
likely benign
NM_000405.5(GM2A):c.501C>T (p.Asn167=) single nucleotide variant not provided [RCV000912251] Chr5:151267370 [GRCh38]
Chr5:150646931 [GRCh37]
Chr5:5q33.1
likely benign
NM_000405.5(GM2A):c.*724G>C single nucleotide variant Tay-Sachs disease, variant AB [RCV001155896] Chr5:151268175 [GRCh38]
Chr5:150647736 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*2363C>T single nucleotide variant Tay-Sachs disease, variant AB [RCV001156009] Chr5:151269814 [GRCh38]
Chr5:150649375 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*2206C>T single nucleotide variant Tay-Sachs disease, variant AB [RCV001156008] Chr5:151269657 [GRCh38]
Chr5:150649218 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.539G>A (p.Arg180His) single nucleotide variant Tay-Sachs disease, variant AB [RCV001157497] Chr5:151267408 [GRCh38]
Chr5:150646969 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*862C>G single nucleotide variant Tay-Sachs disease, variant AB [RCV001157597] Chr5:151268313 [GRCh38]
Chr5:150647874 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*2619C>T single nucleotide variant Tay-Sachs disease, variant AB [RCV001157723] Chr5:151270070 [GRCh38]
Chr5:150649631 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*1312G>T single nucleotide variant Tay-Sachs disease, variant AB [RCV001152132] Chr5:151268763 [GRCh38]
Chr5:150648324 [GRCh37]
Chr5:5q33.1
likely benign
NM_000405.5(GM2A):c.37C>T (p.Leu13=) single nucleotide variant Tay-Sachs disease, variant AB [RCV001153187] Chr5:151253253 [GRCh38]
Chr5:150632814 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*394G>A single nucleotide variant Tay-Sachs disease, variant AB [RCV001153299] Chr5:151267845 [GRCh38]
Chr5:150647406 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*1708A>G single nucleotide variant Tay-Sachs disease, variant AB [RCV001153408] Chr5:151269159 [GRCh38]
Chr5:150648720 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.13A>T (p.Met5Leu) single nucleotide variant Tay-Sachs disease, variant AB [RCV001153185] Chr5:151253229 [GRCh38]
Chr5:150632790 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*2009A>G single nucleotide variant Tay-Sachs disease, variant AB [RCV001153410] Chr5:151269460 [GRCh38]
Chr5:150649021 [GRCh37]
Chr5:5q33.1
uncertain significance
NC_000005.10:g.151253113T>C single nucleotide variant Tay-Sachs disease, variant AB [RCV001153183] Chr5:151253113 [GRCh38]
Chr5:150632674 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*352C>G single nucleotide variant Tay-Sachs disease, variant AB [RCV001153298] Chr5:151267803 [GRCh38]
Chr5:150647364 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.517G>A (p.Val173Ile) single nucleotide variant Tay-Sachs disease, variant AB [RCV001157496] Chr5:151267386 [GRCh38]
Chr5:150646947 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.563C>G (p.Ala188Gly) single nucleotide variant Tay-Sachs disease, variant AB [RCV001157498] Chr5:151267432 [GRCh38]
Chr5:150646993 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*629C>T single nucleotide variant Tay-Sachs disease, variant AB [RCV001155895] Chr5:151268080 [GRCh38]
Chr5:150647641 [GRCh37]
Chr5:5q33.1
likely benign
NM_000405.5(GM2A):c.*790C>T single nucleotide variant Tay-Sachs disease, variant AB [RCV001155897] Chr5:151268241 [GRCh38]
Chr5:150647802 [GRCh37]
Chr5:5q33.1
benign
NM_000405.5(GM2A):c.*1927C>G single nucleotide variant Tay-Sachs disease, variant AB [RCV001153409] Chr5:151269378 [GRCh38]
Chr5:150648939 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.*864C>T single nucleotide variant Tay-Sachs disease, variant AB [RCV001157598] Chr5:151268315 [GRCh38]
Chr5:150647876 [GRCh37]
Chr5:5q33.1
likely benign
NM_000405.5(GM2A):c.*984A>G single nucleotide variant Tay-Sachs disease, variant AB [RCV001157600] Chr5:151268435 [GRCh38]
Chr5:150647996 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_000405.5(GM2A):c.262_264del (p.Lys88del) deletion Tay-Sachs disease, variant AB [RCV001253492] Chr5:151266747..151266749 [GRCh38]
Chr5:150646308..150646310 [GRCh37]
Chr5:5q33.1
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4367 AgrOrtholog
COSMIC GM2A COSMIC
Ensembl Genes ENSG00000196743 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000349687 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000429100 UniProtKB/TrEMBL
  ENSP00000430541 UniProtKB/TrEMBL
Ensembl Transcript ENST00000357164 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000523004 UniProtKB/TrEMBL
  ENST00000523466 UniProtKB/TrEMBL
Gene3D-CATH 2.70.220.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000196743 GTEx
HGNC ID HGNC:4367 ENTREZGENE
Human Proteome Map GM2A Human Proteome Map
InterPro GM2-AP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GM2-AP_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ML_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2760 UniProtKB/Swiss-Prot
NCBI Gene 2760 ENTREZGENE
OMIM 272750 OMIM
  613109 OMIM
PANTHER PTHR17357 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam E1_DerP2_DerF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28752 PharmGKB
SMART SM00737 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF63707 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E5RJD0_HUMAN UniProtKB/TrEMBL
  H0YBY3_HUMAN UniProtKB/TrEMBL
  L0R4Y4_HUMAN UniProtKB/TrEMBL
  P17900 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2R699 UniProtKB/Swiss-Prot
  D3DQH6 UniProtKB/Swiss-Prot
  Q14426 UniProtKB/Swiss-Prot
  Q14428 UniProtKB/Swiss-Prot
  Q6LBL5 UniProtKB/Swiss-Prot