GNMT (glycine N-methyltransferase) - Rat Genome Database
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Gene: GNMT (glycine N-methyltransferase) Homo sapiens
Analyze
Symbol: GNMT
Name: glycine N-methyltransferase
RGD ID: 732912
HGNC Page HGNC
Description: Exhibits glycine N-methyltransferase activity; glycine binding activity; and identical protein binding activity. Involved in S-adenosylmethionine metabolic process and protein homotetramerization. Localizes to cytosol. Implicated in glycine N-methyltransferase deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: epididymis secretory sperm binding protein Li 182mP; HEL-S-182mP
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
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 Ensembl642,960,754 - 42,963,880 (+)EnsemblGRCh38hg38GRCh38
GRCh38642,960,754 - 42,963,880 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37642,928,492 - 42,931,618 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36643,036,478 - 43,039,596 (+)NCBINCBI36hg18NCBI36
Build 34643,036,477 - 43,039,595NCBI
Celera644,480,758 - 44,483,869 (+)NCBI
Cytogenetic Map6p21.1NCBI
HuRef642,645,801 - 42,648,911 (+)NCBIHuRef
CHM1_1642,930,961 - 42,934,095 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-di-tert-butyl-4-methylphenol  (ISO)
2-nitrofluorene  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-methylcholanthrene  (EXP,ISO)
3H-1,2-dithiole-3-thione  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-methyltetrahydrofolic acid  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
aflatoxin M1  (EXP)
aflatoxin Q1  (EXP)
ammonium chloride  (ISO)
aristolochic acid  (ISO)
Aroclor 1254  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (ISO)
bisphenol A  (EXP,ISO)
bromobenzene  (ISO)
cadmium dichloride  (ISO)
calcitriol  (EXP)
captan  (ISO)
carbon nanotube  (ISO)
chloroprene  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
cylindrospermopsin  (EXP)
dexamethasone  (ISO)
dicrotophos  (EXP)
elemental selenium  (ISO)
endosulfan  (EXP)
fenofibrate  (EXP)
finasteride  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fructose  (ISO)
fumonisin B1  (ISO)
furan  (ISO)
gefitinib  (ISO)
genistein  (ISO)
glafenine  (ISO)
gliotoxin  (ISO)
GW 4064  (ISO)
Lasiocarpine  (EXP)
leflunomide  (EXP)
MeIQx  (EXP)
metformin  (ISO)
methapyrilene  (ISO)
methyl methanesulfonate  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
naphthalene  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
O-methyleugenol  (EXP)
ochratoxin A  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
phenformin  (ISO)
phenobarbital  (ISO)
PhIP  (EXP)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
quercetin  (EXP)
rotenone  (ISO)
selenium atom  (ISO)
senecionine  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
streptozocin  (ISO)
sulindac  (ISO)
tebuconazole  (EXP)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
triazines  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (ISO)
troglitazone  (EXP)
urethane  (EXP)
valdecoxib  (ISO)
vancomycin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytosol  (IBA,IDA,ISO,TAS)
methyltransferase complex  (ISO)
nucleus  (ISO)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:2722853   PMID:6157075   PMID:8281755   PMID:9261130   PMID:9495250   PMID:10843803   PMID:11596649   PMID:11810299   PMID:12477932   PMID:12566309   PMID:12697024   PMID:14651980  
PMID:14739680   PMID:15340920   PMID:15489334   PMID:16189514   PMID:16317120   PMID:17332283   PMID:17660255   PMID:18029348   PMID:18624901   PMID:19035462   PMID:19048631   PMID:19146867  
PMID:19161160   PMID:19439180   PMID:20634891   PMID:21044950   PMID:21411609   PMID:21516116   PMID:21572396   PMID:21691217   PMID:21873635   PMID:21988832   PMID:22160218   PMID:22183894  
PMID:22264868   PMID:22415010   PMID:22807109   PMID:22850906   PMID:23475283   PMID:23883094   PMID:23997240   PMID:24651765   PMID:24800880   PMID:25416956   PMID:25502805   PMID:26871637  
PMID:27107014   PMID:28205209   PMID:30021884   PMID:30115977   PMID:30318092   PMID:30796242   PMID:31057302   PMID:31199045   PMID:31515488   PMID:32296183  


Genomics

Comparative Map Data
GNMT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl642,960,754 - 42,963,880 (+)EnsemblGRCh38hg38GRCh38
GRCh38642,960,754 - 42,963,880 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37642,928,492 - 42,931,618 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36643,036,478 - 43,039,596 (+)NCBINCBI36hg18NCBI36
Build 34643,036,477 - 43,039,595NCBI
Celera644,480,758 - 44,483,869 (+)NCBI
Cytogenetic Map6p21.1NCBI
HuRef642,645,801 - 42,648,911 (+)NCBIHuRef
CHM1_1642,930,961 - 42,934,095 (+)NCBICHM1_1
Gnmt
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391747,036,590 - 47,040,137 (-)NCBIGRCm39mm39
GRCm39 Ensembl1747,036,590 - 47,040,094 (-)Ensembl
GRCm381746,725,664 - 46,729,211 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1746,725,664 - 46,729,168 (-)EnsemblGRCm38mm10GRCm38
MGSCv371746,862,613 - 46,866,114 (-)NCBIGRCm37mm9NCBIm37
MGSCv361746,188,855 - 46,192,356 (-)NCBImm8
Celera1750,161,350 - 50,164,841 (-)NCBICelera
Cytogenetic Map17CNCBI
cM Map1722.9NCBI
Gnmt
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2914,254,675 - 14,258,028 (+)NCBI
Rnor_6.0 Ensembl916,565,225 - 16,568,627 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0916,565,274 - 16,568,626 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0915,471,889 - 15,475,241 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4910,127,092 - 10,130,444 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1910,124,413 - 10,127,766 (+)NCBI
Celera912,003,123 - 12,006,473 (+)NCBICelera
Cytogenetic Map9q12NCBI
Gnmt
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554378,944,047 - 8,946,642 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554378,944,288 - 8,946,642 (+)NCBIChiLan1.0ChiLan1.0
GNMT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1643,846,560 - 43,849,679 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl643,846,560 - 43,849,679 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0642,550,631 - 42,554,385 (+)NCBIMhudiblu_PPA_v0panPan3
GNMT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11211,500,363 - 11,503,075 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1211,500,392 - 11,503,481 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1211,527,380 - 11,530,090 (+)NCBI
ROS_Cfam_1.01211,981,562 - 11,984,272 (+)NCBI
UMICH_Zoey_3.11211,509,980 - 11,512,694 (+)NCBI
UNSW_CanFamBas_1.01211,594,281 - 11,596,795 (+)NCBI
UU_Cfam_GSD_1.01211,688,299 - 11,691,025 (+)NCBI
Gnmt
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_ltri_2NW_02440494646,995,031 - 46,998,424 (+)NCBI
SpeTri2.0NW_00493647616,961,734 - 16,965,487 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GNMT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl738,038,358 - 38,041,218 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1738,038,359 - 38,041,218 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2743,486,726 - 43,489,585 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GNMT
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11729,196,142 - 29,199,728 (-)NCBI
ChlSab1.1 Ensembl1729,196,321 - 29,198,947 (-)Ensembl

Position Markers
D6S1532E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37642,931,819 - 42,931,922UniSTSGRCh37
Build 36643,039,797 - 43,039,900RGDNCBI36
Celera644,484,066 - 44,484,169RGD
Cytogenetic Map6p12UniSTS
Cytogenetic Map6p21.1UniSTS
HuRef642,649,108 - 42,649,211UniSTS
GNMT  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37642,930,811 - 42,931,128UniSTSGRCh37
Build 36643,038,789 - 43,039,106RGDNCBI36
Celera644,483,062 - 44,483,379RGD
HuRef642,648,105 - 42,648,421UniSTS
STS-U56602  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37642,931,840 - 42,932,037UniSTSGRCh37
Build 36643,039,818 - 43,040,015RGDNCBI36
Celera644,484,087 - 44,484,284RGD
Cytogenetic Map6p12UniSTS
Cytogenetic Map6p21.1UniSTS
HuRef642,649,129 - 42,649,326UniSTS
GeneMap99-GB4 RH Map6164.99UniSTS
NCBI RH Map6653.1UniSTS
STS-D20352  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37642,931,751 - 42,931,940UniSTSGRCh37
Build 36643,039,729 - 43,039,918RGDNCBI36
Celera644,483,998 - 44,484,187RGD
Cytogenetic Map6p12UniSTS
Cytogenetic Map6p21.1UniSTS
HuRef642,649,040 - 42,649,229UniSTS
GeneMap99-GB4 RH Map6164.26UniSTS
NCBI RH Map6643.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:344
Count of miRNA genes:325
Interacting mature miRNAs:342
Transcripts:ENST00000372808
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 2 2 2
Medium 251 67 534 445 99 388 17 49 151 221 55 56 3 14
Low 2027 2737 1168 174 1739 71 4062 1857 3408 345 1196 1511 113 1161 2555 3 2
Below cutoff 151 181 20 3 80 3 274 284 155 71 37 39 2 40 218 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000372808   ⟹   ENSP00000361894
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl642,960,754 - 42,963,880 (+)Ensembl
RefSeq Acc Id: NM_001318865   ⟹   NP_001305794
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38642,960,754 - 42,963,880 (+)NCBI
CHM1_1642,930,961 - 42,934,095 (+)NCBI
Sequence:
RefSeq Acc Id: NM_018960   ⟹   NP_061833
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38642,960,754 - 42,963,880 (+)NCBI
GRCh37642,928,500 - 42,931,618 (+)ENTREZGENE
Build 36643,036,478 - 43,039,596 (+)NCBI Archive
HuRef642,645,801 - 42,648,911 (+)ENTREZGENE
CHM1_1642,930,961 - 42,934,095 (+)NCBI
Sequence:
RefSeq Acc Id: NR_134899
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38642,960,754 - 42,963,880 (+)NCBI
CHM1_1642,930,961 - 42,934,095 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_061833   ⟸   NM_018960
- Peptide Label: isoform 1
- UniProtKB: Q14749 (UniProtKB/Swiss-Prot),   V9HW60 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305794   ⟸   NM_001318865
- Peptide Label: isoform 2
- UniProtKB: Q14749 (UniProtKB/Swiss-Prot),   A0A0S2Z5F2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000361894   ⟸   ENST00000372808
Protein Domains
Methyltransf_25

Promoters
RGD ID:6804272
Promoter ID:HG_KWN:53602
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Lymphoblastoid
Transcripts:OTTHUMT00000040568
Position:
Human AssemblyChrPosition (strand)Source
Build 36643,036,191 - 43,036,792 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_018960.6(GNMT):c.149T>C (p.Leu50Pro) single nucleotide variant Glycine N-methyltransferase deficiency [RCV000004386] Chr6:42960916 [GRCh38]
Chr6:42928654 [GRCh37]
Chr6:6p21.1
pathogenic
NM_018960.6(GNMT):c.529C>A (p.His177Asn) single nucleotide variant Glycine N-methyltransferase deficiency [RCV000004387]|Peroxisome biogenesis disorders, Zellweger syndrome spectrum [RCV001208834] Chr6:42963149 [GRCh38]
Chr6:42930887 [GRCh37]
Chr6:6p21.1
pathogenic|likely benign|uncertain significance
GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1 copy number loss See cases [RCV000051011] Chr6:42368558..44590544 [GRCh38]
Chr6:42336296..44558281 [GRCh37]
Chr6:42444274..44666259 [NCBI36]
Chr6:6p21.1
pathogenic
GRCh38/hg38 6p21.1(chr6:42133625-44106194)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051899]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051899]|See cases [RCV000051899] Chr6:42133625..44106194 [GRCh38]
Chr6:42101363..44073931 [GRCh37]
Chr6:42209341..44181909 [NCBI36]
Chr6:6p21.1
pathogenic
GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1 copy number loss See cases [RCV000052181] Chr6:37777369..45653843 [GRCh38]
Chr6:37745145..45621580 [GRCh37]
Chr6:37853123..45729558 [NCBI36]
Chr6:6p21.2-21.1
pathogenic
GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1 copy number loss See cases [RCV000052182] Chr6:41638061..46512949 [GRCh38]
Chr6:41605799..46480686 [GRCh37]
Chr6:41713777..46588645 [NCBI36]
Chr6:6p21.1-12.3
pathogenic
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3
pathogenic
NM_018960.6(GNMT):c.422A>G (p.Asn141Ser) single nucleotide variant Glycine N-methyltransferase deficiency [RCV000203283] Chr6:42962849 [GRCh38]
Chr6:42930587 [GRCh37]
Chr6:6p21.1
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_018960.6(GNMT):c.25C>G (p.Arg9Gly) single nucleotide variant not provided [RCV001052288] Chr6:42960792 [GRCh38]
Chr6:42928530 [GRCh37]
Chr6:6p21.1
uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_018960.6(GNMT):c.189C>T (p.Asp63=) single nucleotide variant not provided [RCV000926847] Chr6:42960956 [GRCh38]
Chr6:42928694 [GRCh37]
Chr6:6p21.1
likely benign
NM_018960.6(GNMT):c.312C>T (p.His104=) single nucleotide variant not provided [RCV000898855] Chr6:42962317 [GRCh38]
Chr6:42930055 [GRCh37]
Chr6:6p21.1
likely benign
NM_018960.6(GNMT):c.430G>A (p.Ala144Thr) single nucleotide variant not provided [RCV001070051] Chr6:42962857 [GRCh38]
Chr6:42930595 [GRCh37]
Chr6:6p21.1
uncertain significance
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1
pathogenic
NM_018960.6(GNMT):c.411C>T (p.Ile137=) single nucleotide variant not provided [RCV000960884] Chr6:42962838 [GRCh38]
Chr6:42930576 [GRCh37]
Chr6:6p21.1
benign
GRCh37/hg19 6p21.1(chr6:42903316-42954083)x3 copy number gain not provided [RCV000849694] Chr6:42903316..42954083 [GRCh37]
Chr6:6p21.1
uncertain significance
GRCh37/hg19 6p21.1(chr6:42903316-42955264)x3 copy number gain not provided [RCV000849537] Chr6:42903316..42955264 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_018960.6(GNMT):c.519G>A (p.Leu173=) single nucleotide variant not provided [RCV000884985] Chr6:42963139 [GRCh38]
Chr6:42930877 [GRCh37]
Chr6:6p21.1
benign
NM_018960.6(GNMT):c.10A>G (p.Ser4Gly) single nucleotide variant not provided [RCV001242540] Chr6:42960777 [GRCh38]
Chr6:42928515 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_018960.6(GNMT):c.508G>C (p.Gly170Arg) single nucleotide variant not provided [RCV001067237] Chr6:42963128 [GRCh38]
Chr6:42930866 [GRCh37]
Chr6:6p21.1
uncertain significance
NC_000006.12:g.(?_42923027)_(42984704_?)dup duplication Peroxisome biogenesis disorders, Zellweger syndrome spectrum [RCV001033858] Chr6:42890765..42952442 [GRCh37]
Chr6:6p21.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4415 AgrOrtholog
COSMIC GNMT COSMIC
Ensembl Genes ENSG00000124713 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000361894 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000372808 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000124713 GTEx
HGNC ID HGNC:4415 ENTREZGENE
Human Proteome Map GNMT Human Proteome Map
InterPro Gly/Sar_N_MeTrfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Methyltransf_25 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM-dependent_MTases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:27232 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 27232 ENTREZGENE
OMIM 606628 OMIM
  606664 OMIM
PANTHER PTHR16458 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Methyltransf_25 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28794 PharmGKB
PIRSF Gly_N-mtase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SAM_GNMT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53335 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z594_HUMAN UniProtKB/TrEMBL
  A0A0S2Z5F2 ENTREZGENE, UniProtKB/TrEMBL
  GNMT_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  V9HW60 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q5T8W2 UniProtKB/Swiss-Prot
  Q9NNZ1 UniProtKB/Swiss-Prot
  Q9NS24 UniProtKB/Swiss-Prot