BHMT (betaine--homocysteine S-methyltransferase) - Rat Genome Database
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Gene: BHMT (betaine--homocysteine S-methyltransferase) Homo sapiens
Analyze
Symbol: BHMT
Name: betaine--homocysteine S-methyltransferase
RGD ID: 1346951
HGNC Page HGNC
Description: Exhibits betaine-homocysteine S-methyltransferase activity and zinc ion binding activity. Involved in L-methionine salvage and amino-acid betaine metabolic process. Localizes to cytosol and extracellular exosome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: betaine homocysteine methyltransferase; betaine--homocysteine S-methyltransferase 1; betaine-homocysteine methyltransferase; BHMT1; epididymis secretory sperm binding protein Li 61p; HEL-S-61p
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl579,111,809 - 79,132,288 (+)EnsemblGRCh38hg38GRCh38
GRCh38579,111,809 - 79,132,288 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37578,407,632 - 78,428,111 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37578,407,604 - 78,428,113 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36578,443,360 - 78,463,869 (+)NCBINCBI36hg18NCBI36
Build 34578,443,438 - 78,463,863NCBI
Celera574,300,507 - 74,323,326 (+)NCBI
Cytogenetic Map5q14.1NCBI
HuRef573,613,559 - 73,636,443 (+)NCBIHuRef
CHM1_1577,840,080 - 77,860,596 (+)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
(RS)-coclaurine  (ISO)
(RS)-norcoclaurine  (ISO)
(S)-coclaurine  (ISO)
1,2-dichloroethane  (ISO)
1-(3-(trifluoromethyl)phenyl)piperazine  (ISO)
1-benzylpiperazine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-nitrofluorene  (ISO)
3-chloropropane-1,2-diol  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
amiodarone  (ISO)
amitriptyline  (ISO)
ammonium chloride  (ISO)
andrographolide  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bromobenzene  (ISO)
buta-1,3-diene  (ISO)
cadmium dichloride  (ISO)
caffeine  (ISO)
choline  (ISO)
ciglitazone  (EXP)
ciguatoxin CTX1B  (ISO)
cisplatin  (ISO)
clofibrate  (ISO)
clomipramine  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
coumarin  (ISO)
cyclosporin A  (EXP)
diethyl maleate  (ISO)
diethylstilbestrol  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
folic acid  (ISO)
fumonisin B1  (ISO)
furan  (ISO)
glafenine  (ISO)
glycine betaine  (EXP)
imipramine  (ISO)
iodide salt  (ISO)
ketoconazole  (ISO)
L-methionine  (EXP,ISO)
lead diacetate  (ISO)
mercury dichloride  (ISO)
methapyrilene  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
N-nitrosomorpholine  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
O-methyleugenol  (EXP)
ochratoxin A  (ISO)
paracetamol  (ISO)
perfluorooctanoic acid  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (EXP,ISO)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
quercetin  (EXP,ISO)
resveratrol  (ISO)
SB 431542  (EXP)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
streptozocin  (ISO)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tremolite asbestos  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)
yohimbine  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:1657504   PMID:8798461   PMID:8889548   PMID:9281325   PMID:9681996   PMID:10075673   PMID:10529246   PMID:11223523   PMID:11516176   PMID:11883905   PMID:12071701   PMID:12220488  
PMID:12475213   PMID:12477932   PMID:12749058   PMID:12818402   PMID:15122900   PMID:15489334   PMID:16189514   PMID:16344560   PMID:16816108   PMID:16953798   PMID:17035141   PMID:17119116  
PMID:17376725   PMID:17436311   PMID:17705221   PMID:17993766   PMID:18000879   PMID:18029348   PMID:18230605   PMID:18230680   PMID:18262489   PMID:18427977   PMID:18457970   PMID:18498552  
PMID:18635682   PMID:18676680   PMID:18708404   PMID:18830263   PMID:18988749   PMID:19048631   PMID:19161160   PMID:19170196   PMID:19336437   PMID:19493349   PMID:19625176   PMID:19635752  
PMID:19683694   PMID:19692168   PMID:19737740   PMID:19777601   PMID:19913121   PMID:19936946   PMID:19948975   PMID:20031554   PMID:20346360   PMID:20453000   PMID:20458436   PMID:20628086  
PMID:20634891   PMID:20662904   PMID:20664391   PMID:20737570   PMID:21082674   PMID:21093336   PMID:21349258   PMID:21564312   PMID:21565678   PMID:21630102   PMID:21873635   PMID:21988832  
PMID:22138536   PMID:22339686   PMID:22339736   PMID:23241634   PMID:23376485   PMID:23378610   PMID:23533145   PMID:23645037   PMID:23720494   PMID:24816252   PMID:24895213   PMID:25144858  
PMID:25343990   PMID:25416956   PMID:25846410   PMID:26186194   PMID:26213999   PMID:26592251   PMID:27677362   PMID:27735840   PMID:28514442   PMID:28582843   PMID:29356306   PMID:29407547  
PMID:31451344   PMID:31558761  


Genomics

Comparative Map Data
BHMT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl579,111,809 - 79,132,288 (+)EnsemblGRCh38hg38GRCh38
GRCh38579,111,809 - 79,132,288 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37578,407,632 - 78,428,111 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37578,407,604 - 78,428,113 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36578,443,360 - 78,463,869 (+)NCBINCBI36hg18NCBI36
Build 34578,443,438 - 78,463,863NCBI
Celera574,300,507 - 74,323,326 (+)NCBI
Cytogenetic Map5q14.1NCBI
HuRef573,613,559 - 73,636,443 (+)NCBIHuRef
CHM1_1577,840,080 - 77,860,596 (+)NCBICHM1_1
Bhmt
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391393,753,399 - 93,774,266 (-)NCBIGRCm39mm39
GRCm381393,616,891 - 93,637,758 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1393,616,675 - 93,637,961 (-)EnsemblGRCm38mm10GRCm38
MGSCv371394,386,846 - 94,407,713 (-)NCBIGRCm37mm9NCBIm37
MGSCv361394,717,644 - 94,738,511 (-)NCBImm8
Celera1397,222,393 - 97,243,812 (-)NCBICelera
Cytogenetic Map13C3NCBI
Bhmt
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2224,859,871 - 24,879,449 (-)NCBI
Rnor_6.0 Ensembl223,236,575 - 23,256,158 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0223,236,573 - 23,256,158 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0242,417,998 - 42,437,775 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4223,923,651 - 23,943,320 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1223,844,021 - 23,863,689 (-)NCBI
Celera220,935,059 - 20,954,426 (-)NCBICelera
Cytogenetic Map2q12NCBI
Bhmt
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542521,991,665 - 22,009,855 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542521,992,219 - 22,009,389 (-)NCBIChiLan1.0ChiLan1.0
BHMT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1536,670,854 - 36,691,942 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl536,670,854 - 36,728,993 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0536,181,183 - 36,201,833 (-)NCBIMhudiblu_PPA_v0panPan3
BHMT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl327,734,108 - 27,752,046 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1327,732,381 - 27,752,168 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
LOC101972215
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365496,938,100 - 6,956,380 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BHMT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl287,866,607 - 87,935,253 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1287,911,093 - 87,935,252 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2289,406,703 - 89,431,091 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BHMT
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1473,331,551 - 73,352,259 (+)NCBI
ChlSab1.1 Ensembl473,332,259 - 73,352,434 (+)Ensembl
Bhmt
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248693,618,895 - 3,639,621 (+)NCBI

Position Markers
RH16250  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37578,426,866 - 78,427,013UniSTSGRCh37
Build 36578,462,622 - 78,462,769RGDNCBI36
Celera574,319,764 - 74,319,911RGD
Celera574,322,079 - 74,322,226UniSTS
Cytogenetic Map5q14.1UniSTS
HuRef573,635,196 - 73,635,343UniSTS
GeneMap99-GB4 RH Map5374.74UniSTS
NCBI RH Map5386.0UniSTS
RH35961  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37578,427,197 - 78,427,344UniSTSGRCh37
Build 36578,462,953 - 78,463,100RGDNCBI36
Celera574,322,410 - 74,322,557RGD
Cytogenetic Map5q14.1UniSTS
HuRef573,635,527 - 73,635,674UniSTS
GeneMap99-GB4 RH Map5373.94UniSTS
NCBI RH Map5368.4UniSTS
SGC33609  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37578,427,299 - 78,427,448UniSTSGRCh37
Build 36578,463,055 - 78,463,204RGDNCBI36
Celera574,322,512 - 74,322,661RGD
Cytogenetic Map5q14.1UniSTS
HuRef573,635,629 - 73,635,778UniSTS
GeneMap99-GB4 RH Map5373.69UniSTS
Whitehead-RH Map5274.2UniSTS
NCBI RH Map5396.8UniSTS
RH91498  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37578,427,765 - 78,427,898UniSTSGRCh37
Build 36578,463,521 - 78,463,654RGDNCBI36
Celera574,322,978 - 74,323,111RGD
Cytogenetic Map5q14.1UniSTS
HuRef573,636,095 - 73,636,228UniSTS
GeneMap99-GB4 RH Map5373.61UniSTS
RH80672  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37578,423,787 - 78,424,013UniSTSGRCh37
Build 36578,459,543 - 78,459,769RGDNCBI36
Celera574,316,682 - 74,316,908RGD
Cytogenetic Map5q14.1UniSTS
HuRef573,629,636 - 73,629,862UniSTS
GeneMap99-GB4 RH Map5376.27UniSTS
SHGC-33971  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37578,410,997 - 78,411,121UniSTSGRCh37
Build 36578,446,753 - 78,446,877RGDNCBI36
Celera574,303,900 - 74,304,024RGD
Cytogenetic Map5q14.1UniSTS
HuRef573,616,952 - 73,617,076UniSTS
TNG Radiation Hybrid Map536789.0UniSTS
Stanford-G3 RH Map52916.0UniSTS
GeneMap99-G3 RH Map52911.0UniSTS
SHGC-56646  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37578,413,286 - 78,413,584UniSTSGRCh37
Build 36578,449,042 - 78,449,340RGDNCBI36
Celera574,306,186 - 74,306,484RGD
Cytogenetic Map5q14.1UniSTS
HuRef573,619,238 - 73,619,536UniSTS
TNG Radiation Hybrid Map536797.0UniSTS
BHMT_54.2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37578,427,391 - 78,428,259UniSTSGRCh37
Build 36578,463,147 - 78,464,015RGDNCBI36
Celera574,322,604 - 74,323,472RGD
HuRef573,635,721 - 73,636,589UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1143
Count of miRNA genes:720
Interacting mature miRNAs:812
Transcripts:ENST00000274353, ENST00000520335, ENST00000520703, ENST00000521279, ENST00000523508, ENST00000524080
Prediction methods:Microtar, 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
High 20 20 20 8
Medium 98 8 381 380 7 380 12 93 14 271 21 4 2 12
Low 1652 558 928 42 137 39 1670 770 1340 72 671 639 5 798 868
Below cutoff 539 2025 375 168 862 16 2411 1114 2206 49 626 791 157 401 1765

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000274353   ⟹   ENSP00000274353
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl579,111,809 - 79,132,288 (+)Ensembl
RefSeq Acc Id: ENST00000520335
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl579,111,809 - 79,116,404 (+)Ensembl
RefSeq Acc Id: ENST00000520703
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl579,111,809 - 79,119,606 (+)Ensembl
RefSeq Acc Id: ENST00000521279
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl579,121,281 - 79,128,197 (+)Ensembl
RefSeq Acc Id: ENST00000523508
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl579,120,352 - 79,126,297 (+)Ensembl
RefSeq Acc Id: ENST00000524080   ⟹   ENSP00000428240
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl579,111,809 - 79,131,484 (+)Ensembl
RefSeq Acc Id: NM_001713   ⟹   NP_001704
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38579,111,809 - 79,132,288 (+)NCBI
GRCh37578,407,604 - 78,428,113 (+)ENTREZGENE
Build 36578,443,360 - 78,463,869 (+)NCBI Archive
HuRef573,613,559 - 73,636,443 (+)ENTREZGENE
CHM1_1577,840,080 - 77,860,596 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001704   ⟸   NM_001713
- UniProtKB: Q93088 (UniProtKB/Swiss-Prot),   V9HWA4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000274353   ⟸   ENST00000274353
RefSeq Acc Id: ENSP00000428240   ⟸   ENST00000524080
Protein Domains
Hcy-binding

Promoters
RGD ID:6869978
Promoter ID:EPDNEW_H8154
Type:multiple initiation site
Name:BHMT_1
Description:betaine--homocysteine S-methyltransferase
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
GRCh38579,111,810 - 79,111,870EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3 copy number gain See cases [RCV000051839] Chr5:74163186..110809453 [GRCh38]
Chr5:73459011..110145153 [GRCh37]
Chr5:73494767..110173052 [NCBI36]
Chr5:5q13.3-22.1
pathogenic
GRCh38/hg38 5q14.1(chr5:78804361-79620179)x3 copy number gain See cases [RCV000138660] Chr5:78804361..79620179 [GRCh38]
Chr5:78100184..78916002 [GRCh37]
Chr5:78135940..78951758 [NCBI36]
Chr5:5q14.1
uncertain significance
GRCh38/hg38 5q14.1(chr5:79028408-79195058)x3 copy number gain See cases [RCV000140959] Chr5:79028408..79195058 [GRCh38]
Chr5:78324231..78490881 [GRCh37]
Chr5:78359987..78526637 [NCBI36]
Chr5:5q14.1
likely benign
NM_001713.3(BHMT):c.1200del (p.Lys400fs) deletion not provided [RCV000190384] Chr5:79131091 [GRCh38]
Chr5:78426914 [GRCh37]
Chr5:5q14.1
not provided
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 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
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
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 5q14.1(chr5:78265041-78558425)x3 copy number gain not provided [RCV000744878] Chr5:78265041..78558425 [GRCh37]
Chr5:5q14.1
benign
GRCh37/hg19 5q14.1(chr5:78397980-78427208)x3 copy number gain not provided [RCV000744884] Chr5:78397980..78427208 [GRCh37]
Chr5:5q14.1
benign
GRCh37/hg19 5q14.1(chr5:78397980-78436211)x3 copy number gain not provided [RCV000744885] Chr5:78397980..78436211 [GRCh37]
Chr5:5q14.1
benign
NM_001713.3(BHMT):c.222C>T (p.Phe74=) single nucleotide variant not provided [RCV000883761] Chr5:79119314 [GRCh38]
Chr5:78415137 [GRCh37]
Chr5:5q14.1
benign
NM_001713.3(BHMT):c.589C>T (p.Pro197Ser) single nucleotide variant not provided [RCV000883762] Chr5:79121329 [GRCh38]
Chr5:78417152 [GRCh37]
Chr5:5q14.1
benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
GRCh37/hg19 5q14.1(chr5:78318239-78791047)x3 copy number gain not provided [RCV000849615] Chr5:78318239..78791047 [GRCh37]
Chr5:5q14.1
uncertain significance
GRCh37/hg19 5q14.1(chr5:78323433-78693915)x3 copy number gain not provided [RCV000847079] Chr5:78323433..78693915 [GRCh37]
Chr5:5q14.1
uncertain significance
GRCh37/hg19 5q14.1(chr5:78324437-78693659)x3 copy number gain not provided [RCV000847157] Chr5:78324437..78693659 [GRCh37]
Chr5:5q14.1
uncertain significance
GRCh37/hg19 5q14.1(chr5:78366704-78651243)x3 copy number gain not provided [RCV001005688] Chr5:78366704..78651243 [GRCh37]
Chr5:5q14.1
uncertain significance
GRCh37/hg19 5q14.1(chr5:78229182-78844914)x3 copy number gain not provided [RCV000847383] Chr5:78229182..78844914 [GRCh37]
Chr5:5q14.1
uncertain significance
GRCh37/hg19 5q14.1(chr5:78094810-78936391)x3 copy number gain not provided [RCV001005686] Chr5:78094810..78936391 [GRCh37]
Chr5:5q14.1
uncertain significance
GRCh37/hg19 5q14.1(chr5:78401788-78708407)x3 copy number gain not provided [RCV001005689] Chr5:78401788..78708407 [GRCh37]
Chr5:5q14.1
uncertain significance
GRCh37/hg19 5q14.1(chr5:78323433-78693915)x3 copy number gain not provided [RCV000846882] Chr5:78323433..78693915 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_001713.3(BHMT):c.595G>A (p.Gly199Ser) single nucleotide variant not provided [RCV000954255] Chr5:79121335 [GRCh38]
Chr5:78417158 [GRCh37]
Chr5:5q14.1
benign
GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3 copy number gain not provided [RCV001005683] Chr5:72790061..97478870 [GRCh37]
Chr5:5q13.2-15
pathogenic
GRCh37/hg19 5q14.1(chr5:78366704-78689771)x3 copy number gain not provided [RCV001005687] Chr5:78366704..78689771 [GRCh37]
Chr5:5q14.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1047 AgrOrtholog
COSMIC BHMT COSMIC
Ensembl Genes ENSG00000145692 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000274353 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428240 UniProtKB/TrEMBL
Ensembl Transcript ENST00000274353 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000524080 UniProtKB/TrEMBL
Gene3D-CATH 3.20.20.330 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000145692 GTEx
HGNC ID HGNC:1047 ENTREZGENE
Human Proteome Map BHMT Human Proteome Map
InterPro Betaine-hCys_S-MeTrfase_BHMT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HCY_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HCY_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:635 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 635 ENTREZGENE
OMIM 602888 OMIM
Pfam S-methyl_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25350 PharmGKB
PIRSF Betaine_HMT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE HCY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF82282 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt BHMT1_HUMAN UniProtKB/Swiss-Prot
  E5RJH0_HUMAN UniProtKB/TrEMBL
  Q93088 ENTREZGENE
  V9HWA4 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q9UNI9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-08-16 BHMT  betaine--homocysteine S-methyltransferase  BHMT  betaine--homocysteine S-methyltransferase  Symbol and/or name change 5135510 APPROVED
2011-07-27 BHMT  betaine--homocysteine S-methyltransferase  BHMT  betaine-homocysteine methyltransferase  Symbol and/or name change 5135510 APPROVED