SHMT2 (serine hydroxymethyltransferase 2) - Rat Genome Database

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Gene: SHMT2 (serine hydroxymethyltransferase 2) Homo sapiens
Analyze
Symbol: SHMT2
Name: serine hydroxymethyltransferase 2
RGD ID: 1318437
HGNC Page HGNC
Description: Exhibits chromatin binding activity; glycine hydroxymethyltransferase activity; and pyridoxal phosphate binding activity. Involved in several processes, including protein homotetramerization; regulation of generation of precursor metabolites and energy; and serine family amino acid metabolic process. Localizes to BRISC complex; microtubule cytoskeleton; and mitochondrion.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: epididymis secretory sperm binding protein Li 51e; GLY A+; GLYA; glycine auxotroph A, human complement for hamster; glycine hydroxymethyltransferase; HEL-S-51e; NEDCASB; serine aldolase; serine hydroxymethylase; serine hydroxymethyltransferase 2 (mitochondrial); serine hydroxymethyltransferase, mitochondrial; serine methylase; SHMT; threonine aldolase
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 Ensembl1257,229,573 - 57,234,935 (+)EnsemblGRCh38hg38GRCh38
GRCh381257,229,685 - 57,234,935 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371257,623,494 - 57,628,718 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361255,909,819 - 55,914,981 (+)NCBINCBI36hg18NCBI36
Build 341255,909,818 - 55,914,981NCBI
Celera1257,277,587 - 57,282,945 (+)NCBI
Cytogenetic Map12q13.3NCBI
HuRef1254,662,237 - 54,667,595 (+)NCBIHuRef
CHM1_11257,591,454 - 57,596,816 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrotoluene  (ISO)
2-butoxyethanol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4-amino-2,6-dinitrotoluene  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acrolein  (EXP)
aflatoxin B1  (EXP,ISO)
alpha-pinene  (EXP)
amiodarone  (ISO)
amphetamine  (ISO)
ampicillin  (ISO)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
Brodifacoum  (ISO)
buspirone  (ISO)
butan-1-ol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
carmustine  (EXP)
chloropicrin  (EXP)
chromium(6+)  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP,ISO)
dioxygen  (ISO)
diuron  (ISO)
dopamine  (EXP)
dorsomorphin  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (ISO)
gentamycin  (ISO)
L-ascorbic acid  (EXP)
L-ethionine  (ISO)
lead diacetate  (ISO)
methylmercury chloride  (EXP)
metronidazole  (ISO)
N-methyl-4-phenylpyridinium  (EXP,ISO)
neomycin  (ISO)
nickel dichloride  (EXP)
O-methyleugenol  (EXP)
omeprazole  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
perfluorononanoic acid  (EXP)
phenobarbital  (ISO)
pirinixic acid  (ISO)
resveratrol  (EXP,ISO)
SB 431542  (EXP)
sodium arsenite  (ISO)
Soman  (ISO)
sulindac  (ISO)
sunitinib  (EXP)
tanespimycin  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
Tributyltin oxide  (ISO)
trimellitic anhydride  (ISO)
triptonide  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

Additional References at PubMed
PMID:8125298   PMID:8435385   PMID:8505317   PMID:8999870   PMID:9497969   PMID:9573390   PMID:9639330   PMID:10549165   PMID:10828359   PMID:11063567   PMID:11386852   PMID:11516159  
PMID:12477932   PMID:14702039   PMID:15146197   PMID:15489334   PMID:15604093   PMID:15635413   PMID:16344560   PMID:17220478   PMID:17353931   PMID:17482557   PMID:18029348   PMID:18063578  
PMID:18636124   PMID:18988749   PMID:19048631   PMID:19056867   PMID:19086053   PMID:19513116   PMID:19615732   PMID:19913121   PMID:20186120   PMID:20348541   PMID:20458337   PMID:20562859  
PMID:20628086   PMID:20808282   PMID:20877624   PMID:21081503   PMID:21081666   PMID:21145461   PMID:21516116   PMID:21832049   PMID:21873635   PMID:21876188   PMID:22220685   PMID:22304920  
PMID:22658674   PMID:22863883   PMID:23798571   PMID:24075985   PMID:24223914   PMID:24711643   PMID:25056061   PMID:25147182   PMID:25416956   PMID:25515538   PMID:25619277   PMID:25855294  
PMID:25902260   PMID:25921289   PMID:26103880   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26641092   PMID:26662310   PMID:26816005   PMID:26871637   PMID:26975021   PMID:27025967  
PMID:27107012   PMID:27173435   PMID:27391339   PMID:27503909   PMID:27530298   PMID:27666119   PMID:27684187   PMID:27836973   PMID:27880917   PMID:28302793   PMID:28330616   PMID:28514442  
PMID:28515276   PMID:28675297   PMID:28718761   PMID:29020998   PMID:29073064   PMID:29128334   PMID:29180469   PMID:29298432   PMID:29323231   PMID:29364879   PMID:29395067   PMID:29452640  
PMID:29467282   PMID:29507755   PMID:29568061   PMID:29892012   PMID:29955894   PMID:30021884   PMID:30367038   PMID:30459231   PMID:30463901   PMID:30500180   PMID:30559450   PMID:30575818  
PMID:30833792   PMID:30948266   PMID:31056398   PMID:31091453   PMID:31142841   PMID:31253574   PMID:31379360   PMID:31500219   PMID:31536960   PMID:31586073   PMID:31617661   PMID:31772275  
PMID:31773687   PMID:31980649   PMID:32203214   PMID:32203420   PMID:32296183   PMID:32330411   PMID:32529326   PMID:32572027   PMID:32694731   PMID:32877691   PMID:32903271   PMID:33066813  


Genomics

Comparative Map Data
SHMT2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1257,229,573 - 57,234,935 (+)EnsemblGRCh38hg38GRCh38
GRCh381257,229,685 - 57,234,935 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371257,623,494 - 57,628,718 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361255,909,819 - 55,914,981 (+)NCBINCBI36hg18NCBI36
Build 341255,909,818 - 55,914,981NCBI
Celera1257,277,587 - 57,282,945 (+)NCBI
Cytogenetic Map12q13.3NCBI
HuRef1254,662,237 - 54,667,595 (+)NCBIHuRef
CHM1_11257,591,454 - 57,596,816 (+)NCBICHM1_1
Shmt2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3910127,352,992 - 127,358,313 (-)NCBIGRCm39mm39
GRCm39 Ensembl10127,352,992 - 127,358,313 (-)Ensembl
GRCm3810127,517,123 - 127,522,444 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl10127,517,123 - 127,522,444 (-)EnsemblGRCm38mm10GRCm38
MGSCv3710126,954,195 - 126,959,491 (-)NCBIGRCm37mm9NCBIm37
MGSCv3610126,920,088 - 126,925,384 (-)NCBImm8
Celera10129,908,893 - 129,914,189 (-)NCBICelera
Cytogenetic Map10D3NCBI
Shmt2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2763,358,961 - 63,364,293 (-)NCBI
Rnor_6.0 Ensembl770,824,715 - 70,829,815 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0770,824,718 - 70,829,822 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0770,998,103 - 71,003,197 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4767,494,470 - 67,499,540 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1767,515,199 - 67,520,270 (-)NCBI
Celera760,498,180 - 60,503,250 (-)NCBICelera
Cytogenetic Map7q22NCBI
Shmt2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554584,957,602 - 4,962,691 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554584,957,614 - 4,962,691 (+)NCBIChiLan1.0ChiLan1.0
SHMT2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11231,944,787 - 31,950,138 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1231,944,785 - 31,950,138 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01231,692,451 - 31,697,727 (-)NCBIMhudiblu_PPA_v0panPan3
SHMT2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1101,357,347 - 1,362,511 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl101,356,706 - 1,362,305 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha101,421,107 - 1,426,256 (+)NCBI
ROS_Cfam_1.0101,367,808 - 1,372,957 (+)NCBI
UMICH_Zoey_3.1101,344,398 - 1,349,547 (+)NCBI
UNSW_CanFamBas_1.0101,586,394 - 1,591,543 (+)NCBI
UU_Cfam_GSD_1.0101,711,303 - 1,716,453 (+)NCBI
Shmt2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494557,442,306 - 57,447,426 (-)NCBI
SpeTri2.0NW_0049366461,422,844 - 1,427,929 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SHMT2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl522,532,894 - 22,540,321 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1522,535,780 - 22,540,322 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2524,368,828 - 24,374,450 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SHMT2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11153,141,435 - 53,146,625 (+)NCBI
ChlSab1.1 Ensembl1153,141,462 - 53,147,795 (+)Ensembl
Shmt2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462480210,713,276 - 10,718,391 (-)NCBI

Position Markers
RH15808  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371257,628,263 - 57,628,450UniSTSGRCh37
Build 361255,914,530 - 55,914,717RGDNCBI36
Celera1257,282,490 - 57,282,677RGD
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map12q12-q14UniSTS
HuRef1254,667,140 - 54,667,327UniSTS
RH71214  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371257,628,267 - 57,628,386UniSTSGRCh37
Build 361255,914,534 - 55,914,653RGDNCBI36
Celera1257,282,494 - 57,282,613RGD
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map12q12-q14UniSTS
HuRef1254,667,144 - 54,667,263UniSTS
GeneMap99-GB4 RH Map12247.26UniSTS
NCBI RH Map12459.1UniSTS
L11932  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371257,628,256 - 57,628,377UniSTSGRCh37
Build 361255,914,523 - 55,914,644RGDNCBI36
Celera1257,282,483 - 57,282,604RGD
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map12q12-q14UniSTS
HuRef1254,667,133 - 54,667,254UniSTS
RH47705  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371257,628,505 - 57,628,663UniSTSGRCh37
Build 361255,914,772 - 55,914,930RGDNCBI36
Celera1257,282,732 - 57,282,890RGD
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map12q12-q14UniSTS
HuRef1254,667,382 - 54,667,540UniSTS
GeneMap99-GB4 RH Map12252.08UniSTS
STS-W84778  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371257,628,700 - 57,628,840UniSTSGRCh37
Build 361255,914,967 - 55,915,107RGDNCBI36
Celera1257,282,927 - 57,283,068RGD
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map12q12-q14UniSTS
HuRef1254,667,577 - 54,667,717UniSTS
GeneMap99-GB4 RH Map12249.61UniSTS
NCBI RH Map12458.1UniSTS
RH98752  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371257,624,704 - 57,625,317UniSTSGRCh37
Celera1257,278,935 - 57,279,544UniSTS
Cytogenetic Map12q12-q14UniSTS
HuRef1254,663,585 - 54,664,194UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:14708
Count of miRNA genes:1095
Interacting mature miRNAs:1428
Transcripts:ENST00000328923, ENST00000393827, ENST00000414700, ENST00000449049, ENST00000553324, ENST00000553474, ENST00000553529, ENST00000553837, ENST00000553868, ENST00000553949, ENST00000553950, ENST00000554310, ENST00000554467, ENST00000554600, ENST00000554604, ENST00000554656, ENST00000554975, ENST00000555116, ENST00000555213, ENST00000555563, ENST00000555634, ENST00000555773, ENST00000555774, ENST00000556689, ENST00000556737, ENST00000556798, ENST00000556825, ENST00000557269, ENST00000557302, ENST00000557348, ENST00000557427, ENST00000557433, ENST00000557487, ENST00000557529, ENST00000557703, ENST00000557740
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 2
Medium 2414 2608 1717 622 1776 464 4352 2028 2780 406 1316 1606 171 1203 2786 4
Low 20 379 6 2 174 3 164 932 12 135 3 1 1 1 2 1 2
Below cutoff 3 3 1 1 1 11 1 8 3 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001166356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001166357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001166358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001166359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_029415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_029416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_029417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_048562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC137834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC044211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC091501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN395976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA052422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC339924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC386590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU668344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GN344115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L11932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U23143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y12331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000328923   ⟹   ENSP00000333667
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,229,711 - 57,234,935 (+)Ensembl
RefSeq Acc Id: ENST00000414700   ⟹   ENSP00000406881
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,230,086 - 57,234,726 (+)Ensembl
RefSeq Acc Id: ENST00000449049   ⟹   ENSP00000413770
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,230,360 - 57,234,699 (+)Ensembl
RefSeq Acc Id: ENST00000553324
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,229,711 - 57,231,979 (+)Ensembl
RefSeq Acc Id: ENST00000553474   ⟹   ENSP00000452419
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,230,328 - 57,234,551 (+)Ensembl
RefSeq Acc Id: ENST00000553529   ⟹   ENSP00000452161
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,230,167 - 57,231,906 (+)Ensembl
RefSeq Acc Id: ENST00000553837   ⟹   ENSP00000451371
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,230,384 - 57,234,726 (+)Ensembl
RefSeq Acc Id: ENST00000553868
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,231,162 - 57,232,399 (+)Ensembl
RefSeq Acc Id: ENST00000553949
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,230,701 - 57,232,261 (+)Ensembl
RefSeq Acc Id: ENST00000553950
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,229,715 - 57,231,769 (+)Ensembl
RefSeq Acc Id: ENST00000554310   ⟹   ENSP00000450893
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,230,167 - 57,232,241 (+)Ensembl
RefSeq Acc Id: ENST00000554467
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,229,711 - 57,234,726 (+)Ensembl
RefSeq Acc Id: ENST00000554600
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,229,684 - 57,232,572 (+)Ensembl
RefSeq Acc Id: ENST00000554604   ⟹   ENSP00000452163
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,230,394 - 57,232,801 (+)Ensembl
RefSeq Acc Id: ENST00000554656
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,230,275 - 57,232,534 (+)Ensembl
RefSeq Acc Id: ENST00000554975   ⟹   ENSP00000452404
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,230,360 - 57,232,568 (+)Ensembl
RefSeq Acc Id: ENST00000555116   ⟹   ENSP00000452339
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,230,368 - 57,234,763 (+)Ensembl
RefSeq Acc Id: ENST00000555213
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,231,448 - 57,232,487 (+)Ensembl
RefSeq Acc Id: ENST00000555563   ⟹   ENSP00000451630
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,229,749 - 57,233,239 (+)Ensembl
RefSeq Acc Id: ENST00000555634   ⟹   ENSP00000450930
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,229,723 - 57,233,811 (+)Ensembl
RefSeq Acc Id: ENST00000555773   ⟹   ENSP00000451968
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,230,354 - 57,231,913 (+)Ensembl
RefSeq Acc Id: ENST00000555774   ⟹   ENSP00000451872
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,230,360 - 57,234,935 (+)Ensembl
RefSeq Acc Id: ENST00000556689   ⟹   ENSP00000452035
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,229,724 - 57,232,822 (+)Ensembl
RefSeq Acc Id: ENST00000556737   ⟹   ENSP00000451495
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,230,703 - 57,231,906 (+)Ensembl
RefSeq Acc Id: ENST00000556798
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,233,634 - 57,234,244 (+)Ensembl
RefSeq Acc Id: ENST00000556825   ⟹   ENSP00000451169
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,229,573 - 57,234,935 (+)Ensembl
RefSeq Acc Id: ENST00000557269   ⟹   ENSP00000450594
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,229,740 - 57,232,773 (+)Ensembl
RefSeq Acc Id: ENST00000557302
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,230,171 - 57,231,185 (+)Ensembl
RefSeq Acc Id: ENST00000557348   ⟹   ENSP00000450927
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,230,103 - 57,234,476 (+)Ensembl
RefSeq Acc Id: ENST00000557427   ⟹   ENSP00000452045
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,230,280 - 57,232,238 (+)Ensembl
RefSeq Acc Id: ENST00000557433   ⟹   ENSP00000450610
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,229,759 - 57,234,726 (+)Ensembl
RefSeq Acc Id: ENST00000557487   ⟹   ENSP00000452315
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,229,711 - 57,234,726 (+)Ensembl
RefSeq Acc Id: ENST00000557529   ⟹   ENSP00000450490
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,232,461 - 57,234,694 (+)Ensembl
RefSeq Acc Id: ENST00000557703   ⟹   ENSP00000450452
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,230,115 - 57,231,890 (+)Ensembl
RefSeq Acc Id: ENST00000557740
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,229,661 - 57,231,913 (+)Ensembl
RefSeq Acc Id: NM_001166356   ⟹   NP_001159828
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,229,711 - 57,234,935 (+)NCBI
GRCh371257,623,356 - 57,628,718 (+)ENTREZGENE
HuRef1254,662,237 - 54,667,595 (+)ENTREZGENE
CHM1_11257,591,454 - 57,596,816 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001166357   ⟹   NP_001159829
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,230,360 - 57,234,935 (+)NCBI
GRCh371257,623,356 - 57,628,718 (+)ENTREZGENE
HuRef1254,662,237 - 54,667,595 (+)ENTREZGENE
CHM1_11257,592,241 - 57,596,816 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001166358   ⟹   NP_001159830
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,230,142 - 57,234,935 (+)NCBI
GRCh371257,623,356 - 57,628,718 (+)ENTREZGENE
HuRef1254,662,237 - 54,667,595 (+)ENTREZGENE
CHM1_11257,591,926 - 57,596,816 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001166359   ⟹   NP_001159831
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,230,328 - 57,234,935 (+)NCBI
GRCh371257,623,356 - 57,628,718 (+)ENTREZGENE
HuRef1254,662,237 - 54,667,595 (+)ENTREZGENE
CHM1_11257,592,209 - 57,596,816 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005412   ⟹   NP_005403
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,229,711 - 57,234,935 (+)NCBI
GRCh371257,623,356 - 57,628,718 (+)ENTREZGENE
Build 361255,909,819 - 55,914,981 (+)NCBI Archive
HuRef1254,662,237 - 54,667,595 (+)ENTREZGENE
CHM1_11257,591,454 - 57,596,816 (+)NCBI
Sequence:
RefSeq Acc Id: NR_029415
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,230,328 - 57,234,935 (+)NCBI
GRCh371257,623,356 - 57,628,718 (+)ENTREZGENE
HuRef1254,662,237 - 54,667,595 (+)ENTREZGENE
CHM1_11257,592,209 - 57,596,816 (+)NCBI
Sequence:
RefSeq Acc Id: NR_029416
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,230,142 - 57,234,935 (+)NCBI
GRCh371257,623,356 - 57,628,718 (+)ENTREZGENE
HuRef1254,662,237 - 54,667,595 (+)ENTREZGENE
CHM1_11257,591,926 - 57,596,816 (+)NCBI
Sequence:
RefSeq Acc Id: NR_029417
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,229,711 - 57,234,935 (+)NCBI
GRCh371257,623,356 - 57,628,718 (+)ENTREZGENE
HuRef1254,662,237 - 54,667,595 (+)ENTREZGENE
CHM1_11257,591,454 - 57,596,816 (+)NCBI
Sequence:
RefSeq Acc Id: NR_048562
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,230,366 - 57,234,935 (+)NCBI
GRCh371257,623,356 - 57,628,718 (+)NCBI
HuRef1254,662,237 - 54,667,595 (+)NCBI
CHM1_11257,592,247 - 57,596,816 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011538675   ⟹   XP_011536977
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,229,704 - 57,234,731 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011538676   ⟹   XP_011536978
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,230,114 - 57,234,731 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011538677   ⟹   XP_011536979
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,229,685 - 57,234,926 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011538678   ⟹   XP_011536980
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,230,131 - 57,234,926 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001159828 (Get FASTA)   NCBI Sequence Viewer  
  NP_001159829 (Get FASTA)   NCBI Sequence Viewer  
  NP_001159830 (Get FASTA)   NCBI Sequence Viewer  
  NP_001159831 (Get FASTA)   NCBI Sequence Viewer  
  NP_005403 (Get FASTA)   NCBI Sequence Viewer  
  XP_011536977 (Get FASTA)   NCBI Sequence Viewer  
  XP_011536978 (Get FASTA)   NCBI Sequence Viewer  
  XP_011536979 (Get FASTA)   NCBI Sequence Viewer  
  XP_011536980 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA63258 (Get FASTA)   NCBI Sequence Viewer  
  AAA64572 (Get FASTA)   NCBI Sequence Viewer  
  AAH11911 (Get FASTA)   NCBI Sequence Viewer  
  AAH13677 (Get FASTA)   NCBI Sequence Viewer  
  AAH32584 (Get FASTA)   NCBI Sequence Viewer  
  AAH44211 (Get FASTA)   NCBI Sequence Viewer  
  AAH91501 (Get FASTA)   NCBI Sequence Viewer  
  AAP35512 (Get FASTA)   NCBI Sequence Viewer  
  ACF94497 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33791 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33792 (Get FASTA)   NCBI Sequence Viewer  
  BAD97275 (Get FASTA)   NCBI Sequence Viewer  
  BAG58725 (Get FASTA)   NCBI Sequence Viewer  
  BAG58915 (Get FASTA)   NCBI Sequence Viewer  
  BAG59666 (Get FASTA)   NCBI Sequence Viewer  
  BAG60500 (Get FASTA)   NCBI Sequence Viewer  
  BAG62887 (Get FASTA)   NCBI Sequence Viewer  
  BAG62969 (Get FASTA)   NCBI Sequence Viewer  
  BAG64774 (Get FASTA)   NCBI Sequence Viewer  
  BAH14287 (Get FASTA)   NCBI Sequence Viewer  
  CAA72999 (Get FASTA)   NCBI Sequence Viewer  
  CAI46021 (Get FASTA)   NCBI Sequence Viewer  
  CAY55993 (Get FASTA)   NCBI Sequence Viewer  
  EAW96993 (Get FASTA)   NCBI Sequence Viewer  
  EAW96994 (Get FASTA)   NCBI Sequence Viewer  
  EAW96995 (Get FASTA)   NCBI Sequence Viewer  
  EAW96996 (Get FASTA)   NCBI Sequence Viewer  
  EAW96997 (Get FASTA)   NCBI Sequence Viewer  
  EAW96998 (Get FASTA)   NCBI Sequence Viewer  
  EAW96999 (Get FASTA)   NCBI Sequence Viewer  
  EAW97000 (Get FASTA)   NCBI Sequence Viewer  
  EAW97001 (Get FASTA)   NCBI Sequence Viewer  
  P34897 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_005403   ⟸   NM_005412
- Peptide Label: isoform 1 precursor
- UniProtKB: P34897 (UniProtKB/Swiss-Prot),   Q5BJF5 (UniProtKB/TrEMBL),   V9HW06 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001159828   ⟸   NM_001166356
- Peptide Label: isoform 2 precursor
- UniProtKB: P34897 (UniProtKB/Swiss-Prot),   Q5BJF5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001159830   ⟸   NM_001166358
- Peptide Label: isoform 3
- UniProtKB: P34897 (UniProtKB/Swiss-Prot),   A0A024RB99 (UniProtKB/TrEMBL),   Q5BJF5 (UniProtKB/TrEMBL),   Q5HYG8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001159831   ⟸   NM_001166359
- Peptide Label: isoform 3
- UniProtKB: P34897 (UniProtKB/Swiss-Prot),   A0A024RB99 (UniProtKB/TrEMBL),   B4DJQ3 (UniProtKB/TrEMBL),   Q5BJF5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001159829   ⟸   NM_001166357
- Peptide Label: isoform 3
- UniProtKB: P34897 (UniProtKB/Swiss-Prot),   A0A024RB99 (UniProtKB/TrEMBL),   Q5BJF5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011536977   ⟸   XM_011538675
- Peptide Label: isoform X1
- UniProtKB: B4DLV4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011536979   ⟸   XM_011538677
- Peptide Label: isoform X1
- UniProtKB: B4DLV4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011536978   ⟸   XM_011538676
- Peptide Label: isoform X1
- UniProtKB: B4DLV4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011536980   ⟸   XM_011538678
- Peptide Label: isoform X1
- UniProtKB: B4DLV4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000451968   ⟸   ENST00000555773
RefSeq Acc Id: ENSP00000451872   ⟸   ENST00000555774
RefSeq Acc Id: ENSP00000450930   ⟸   ENST00000555634
RefSeq Acc Id: ENSP00000452339   ⟸   ENST00000555116
RefSeq Acc Id: ENSP00000451630   ⟸   ENST00000555563
RefSeq Acc Id: ENSP00000451169   ⟸   ENST00000556825
RefSeq Acc Id: ENSP00000451495   ⟸   ENST00000556737
RefSeq Acc Id: ENSP00000452035   ⟸   ENST00000556689
RefSeq Acc Id: ENSP00000450927   ⟸   ENST00000557348
RefSeq Acc Id: ENSP00000450594   ⟸   ENST00000557269
RefSeq Acc Id: ENSP00000450452   ⟸   ENST00000557703
RefSeq Acc Id: ENSP00000450490   ⟸   ENST00000557529
RefSeq Acc Id: ENSP00000450610   ⟸   ENST00000557433
RefSeq Acc Id: ENSP00000452045   ⟸   ENST00000557427
RefSeq Acc Id: ENSP00000452315   ⟸   ENST00000557487
RefSeq Acc Id: ENSP00000406881   ⟸   ENST00000414700
RefSeq Acc Id: ENSP00000333667   ⟸   ENST00000328923
RefSeq Acc Id: ENSP00000413770   ⟸   ENST00000449049
RefSeq Acc Id: ENSP00000451371   ⟸   ENST00000553837
RefSeq Acc Id: ENSP00000452419   ⟸   ENST00000553474
RefSeq Acc Id: ENSP00000452161   ⟸   ENST00000553529
RefSeq Acc Id: ENSP00000452163   ⟸   ENST00000554604
RefSeq Acc Id: ENSP00000450893   ⟸   ENST00000554310
RefSeq Acc Id: ENSP00000452404   ⟸   ENST00000554975
Protein Domains
SHMT

Promoters
RGD ID:6790477
Promoter ID:HG_KWN:15959
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001166356,   NM_001166357,   NM_001166358,   NM_001166359,   NM_005412,   NR_029415,   NR_029416,   NR_029417,   UC001SNG.1,   UC001SNK.1,   UC001SNL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361255,909,221 - 55,910,482 (+)MPROMDB
RGD ID:6814586
Promoter ID:HG_XEF:1940
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:NM_001007879,   NM_001008322,   NM_001019100,   NM_001019462,   NM_001034282,   NM_001057746,   NM_001073172,   NM_001093900,   NM_001123374,   NM_001144690,   NM_001147370,   NM_001181945,   NM_028230,   NM_117467,   NM_119954,   NM_122560,   NM_132050,   NM_180749,   NM_180750,   NM_208970,   NM_210026
Position:
Human AssemblyChrPosition (strand)Source
Build 361255,910,679 - 55,911,179 (+)MPROMDB
RGD ID:7224503
Promoter ID:EPDNEW_H17997
Type:initiation region
Name:SHMT2_1
Description:serine hydroxymethyltransferase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17998  EPDNEW_H17999  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,229,711 - 57,229,771EPDNEW
RGD ID:7224505
Promoter ID:EPDNEW_H17998
Type:initiation region
Name:SHMT2_2
Description:serine hydroxymethyltransferase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17997  EPDNEW_H17999  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,230,167 - 57,230,227EPDNEW
RGD ID:7224507
Promoter ID:EPDNEW_H17999
Type:initiation region
Name:SHMT2_3
Description:serine hydroxymethyltransferase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17997  EPDNEW_H17998  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,230,368 - 57,230,428EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1 copy number loss See cases [RCV000052813] Chr12:57013355..63042498 [GRCh38]
Chr12:57407139..63436278 [GRCh37]
Chr12:55693406..61722545 [NCBI36]
Chr12:12q13.3-14.2
pathogenic
GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1 copy number loss See cases [RCV000052814] Chr12:57041158..60273934 [GRCh38]
Chr12:57434942..60667715 [GRCh37]
Chr12:55721209..58953982 [NCBI36]
Chr12:12q13.3-14.1
pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
NM_005412.6(SHMT2):c.557C>G (p.Thr186Arg) AND NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, single nucleotide variant NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES [RCV001270316] Chr12:57232255 [GRCh38]
Chr12:57626038 [GRCh37]
Chr12:12q13.3
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_005412.6(SHMT2):c.312-6C>T single nucleotide variant not provided [RCV000879663] Chr12:57231707 [GRCh38]
Chr12:57625490 [GRCh37]
Chr12:12q13.3
benign
GRCh37/hg19 12q13.3-14.1(chr12:57582163-59031979)x1 copy number loss not provided [RCV001006506] Chr12:57582163..59031979 [GRCh37]
Chr12:12q13.3-14.1
likely pathogenic
GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3 copy number gain not provided [RCV001006505] Chr12:55552371..62126304 [GRCh37]
Chr12:12q13.2-14.1
pathogenic
NM_005412.6(SHMT2):c.1495C>G (p.Pro499Ala) AND NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, single nucleotide variant NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES [RCV001270311] Chr12:57234341 [GRCh38]
Chr12:57628124 [GRCh37]
Chr12:12q13.3
pathogenic
NM_005412.6(SHMT2):c.1124-4_1126delinsA AND NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, indel NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES [RCV001270313] Chr12:57233745..57233751 [GRCh38]
Chr12:57627528..57627534 [GRCh37]
Chr12:12q13.3
pathogenic
NM_005412.6(SHMT2):c.1304A>C (p.Gln435Pro) AND NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, single nucleotide variant NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES [RCV001270314] Chr12:57234027 [GRCh38]
Chr12:57627810 [GRCh37]
Chr12:12q13.3
pathogenic
NM_005412.6(SHMT2):c.1267G>A (p.Gly423Ser) AND NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, single nucleotide variant NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES [RCV001270312] Chr12:57233892 [GRCh38]
Chr12:57627675 [GRCh37]
Chr12:12q13.3
pathogenic
NM_005412.6(SHMT2):c.469C>T (p.Pro157Ser) AND NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, single nucleotide variant NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES [RCV001270315] Chr12:57231870 [GRCh38]
Chr12:57625653 [GRCh37]
Chr12:12q13.3
pathogenic
NM_005412.6(SHMT2):c.1135A>G (p.Asn379Asp) AND NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, single nucleotide variant NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES [RCV001270317] Chr12:57233760 [GRCh38]
Chr12:57627543 [GRCh37]
Chr12:12q13.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10852 AgrOrtholog
COSMIC SHMT2 COSMIC
Ensembl Genes ENSG00000182199 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000333667 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000406881 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000413770 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000450452 UniProtKB/TrEMBL
  ENSP00000450490 UniProtKB/TrEMBL
  ENSP00000450594 UniProtKB/TrEMBL
  ENSP00000450610 UniProtKB/TrEMBL
  ENSP00000450893 UniProtKB/TrEMBL
  ENSP00000450927 UniProtKB/TrEMBL
  ENSP00000450930 UniProtKB/TrEMBL
  ENSP00000451169 UniProtKB/TrEMBL
  ENSP00000451371 UniProtKB/TrEMBL
  ENSP00000451495 UniProtKB/TrEMBL
  ENSP00000451630 UniProtKB/TrEMBL
  ENSP00000451872 UniProtKB/TrEMBL
  ENSP00000451968 UniProtKB/TrEMBL
  ENSP00000452035 UniProtKB/TrEMBL
  ENSP00000452045 UniProtKB/TrEMBL
  ENSP00000452161 UniProtKB/TrEMBL
  ENSP00000452163 UniProtKB/TrEMBL
  ENSP00000452315 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000452339 UniProtKB/TrEMBL
  ENSP00000452404 UniProtKB/TrEMBL
  ENSP00000452419 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000328923 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000414700 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000449049 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000553474 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000553529 UniProtKB/TrEMBL
  ENST00000553837 UniProtKB/TrEMBL
  ENST00000554310 UniProtKB/TrEMBL
  ENST00000554604 UniProtKB/TrEMBL
  ENST00000554975 UniProtKB/TrEMBL
  ENST00000555116 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000555563 UniProtKB/TrEMBL
  ENST00000555634 UniProtKB/TrEMBL
  ENST00000555773 UniProtKB/TrEMBL
  ENST00000555774 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000556689 UniProtKB/TrEMBL
  ENST00000556737 UniProtKB/TrEMBL
  ENST00000556825 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000557269 UniProtKB/TrEMBL
  ENST00000557348 UniProtKB/TrEMBL
  ENST00000557427 UniProtKB/TrEMBL
  ENST00000557433 UniProtKB/TrEMBL
  ENST00000557487 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000557529 UniProtKB/TrEMBL
  ENST00000557703 UniProtKB/TrEMBL
Gene3D-CATH 3.40.640.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.1150.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000182199 GTEx
HGNC ID HGNC:10852 ENTREZGENE
Human Proteome Map SHMT2 Human Proteome Map
InterPro PyrdxlP-dep_Trfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase_dom1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase_major UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser_HO-MeTrfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser_HO-MeTrfase_PLP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SHMT-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6472 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6472 ENTREZGENE
OMIM 138450 OMIM
  619121 OMIM
PANTHER PTHR11680 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SHMT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35755 PharmGKB
PIRSF SHMT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SHMT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53383 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RB99 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z4J2_HUMAN UniProtKB/TrEMBL
  B4DJQ3 ENTREZGENE, UniProtKB/TrEMBL
  B4DLV4 ENTREZGENE, UniProtKB/TrEMBL
  G3V241_HUMAN UniProtKB/TrEMBL
  G3V2D2_HUMAN UniProtKB/TrEMBL
  G3V2E4_HUMAN UniProtKB/TrEMBL
  G3V2W0_HUMAN UniProtKB/TrEMBL
  G3V2Y1_HUMAN UniProtKB/TrEMBL
  G3V2Y4_HUMAN UniProtKB/TrEMBL
  G3V3C6_HUMAN UniProtKB/TrEMBL
  G3V3Y8_HUMAN UniProtKB/TrEMBL
  G3V4T0_HUMAN UniProtKB/TrEMBL
  G3V4W5_HUMAN UniProtKB/TrEMBL
  G3V4X0_HUMAN UniProtKB/TrEMBL
  G3V540_HUMAN UniProtKB/TrEMBL
  G3V5L0_HUMAN UniProtKB/TrEMBL
  GLYM_HUMAN UniProtKB/Swiss-Prot
  H0YIZ0_HUMAN UniProtKB/TrEMBL
  P34897 ENTREZGENE
  Q5BJF5 ENTREZGENE, UniProtKB/TrEMBL
  Q5HYG8 ENTREZGENE, UniProtKB/TrEMBL
  V9HW06 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B7Z9F1 UniProtKB/Swiss-Prot
  E7EQ19 UniProtKB/Swiss-Prot
  E7EU43 UniProtKB/Swiss-Prot
  O00740 UniProtKB/Swiss-Prot
  Q8N1A5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-14 SHMT2  serine hydroxymethyltransferase 2    serine hydroxymethyltransferase 2 (mitochondrial)  Symbol and/or name change 5135510 APPROVED