CERS2 (ceramide synthase 2) - Rat Genome Database
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Gene: CERS2 (ceramide synthase 2) Homo sapiens
Analyze
Symbol: CERS2
Name: ceramide synthase 2
RGD ID: 1320742
HGNC Page HGNC
Description: Exhibits sphingosine N-acyltransferase activity. Involved in ceramide biosynthetic process. Localizes to endoplasmic reticulum.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FLJ10243; L3; LAG1 homolog, ceramide synthase 2; LAG1 longevity assurance 2; LAG1 longevity assurance homolog 2; lag1 longevity assurance homolog 2 (s. cerevisiae); LASS2; longevity assurance (LAG1, S. cerevisiae) homolog 2; MGC987; SP260; sphingosine N-acyltransferase CERS2; TMSG1; tumor metastasis-suppressor gene 1 protein
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 Ensembl1150,960,583 - 150,975,004 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1150,960,583 - 150,975,003 (-)EnsemblGRCh38hg38GRCh38
GRCh381150,965,184 - 150,974,835 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371150,937,662 - 150,947,311 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh371150,937,649 - 150,947,479 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361149,204,273 - 149,214,064 (-)NCBINCBI36hg18NCBI36
Celera1124,053,344 - 124,063,135 (-)NCBI
Cytogenetic Map1q21.3NCBI
HuRef1122,314,777 - 122,324,583 (-)NCBIHuRef
CHM1_11152,332,969 - 152,342,798 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11543633   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16263699   PMID:16341674   PMID:16344560   PMID:17081983   PMID:17353931   PMID:17977534   PMID:18029348   PMID:18165233  
PMID:18194600   PMID:19728861   PMID:19912991   PMID:19946888   PMID:20195357   PMID:20383146   PMID:20406683   PMID:20937905   PMID:21755371   PMID:21873635   PMID:21928351   PMID:21988832  
PMID:22169644   PMID:22178826   PMID:22190034   PMID:22336162   PMID:22573553   PMID:22580606   PMID:22810586   PMID:22939629   PMID:22991218   PMID:23538298   PMID:23585552   PMID:23690971  
PMID:24097068   PMID:24453046   PMID:24797263   PMID:25213553   PMID:25501280   PMID:25544563   PMID:25735224   PMID:25973015   PMID:26110566   PMID:26150338   PMID:26186194   PMID:26496610  
PMID:26638075   PMID:26760575   PMID:26887952   PMID:27241665   PMID:27432908   PMID:27581744   PMID:28298427   PMID:28330616   PMID:28514442   PMID:28685749   PMID:28692057   PMID:28699686  
PMID:29117863   PMID:29138865   PMID:29180619   PMID:29507755   PMID:29509190   PMID:29632068   PMID:29739079   PMID:30213291   PMID:30219773   PMID:30442662   PMID:30463687   PMID:30537159  
PMID:30575818   PMID:30804502   PMID:30833792   PMID:30896811   PMID:30898713   PMID:30988071   PMID:30996356   PMID:31056421   PMID:31091453   PMID:31527615   PMID:31636736   PMID:32062451  
PMID:32296183   PMID:32911434  


Genomics

Comparative Map Data
CERS2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1150,960,583 - 150,975,004 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1150,960,583 - 150,975,003 (-)EnsemblGRCh38hg38GRCh38
GRCh381150,965,184 - 150,974,835 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371150,937,662 - 150,947,311 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh371150,937,649 - 150,947,479 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361149,204,273 - 149,214,064 (-)NCBINCBI36hg18NCBI36
Celera1124,053,344 - 124,063,135 (-)NCBI
Cytogenetic Map1q21.3NCBI
HuRef1122,314,777 - 122,324,583 (-)NCBIHuRef
CHM1_11152,332,969 - 152,342,798 (-)NCBICHM1_1
Cers2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39395,222,077 - 95,230,910 (+)NCBIGRCm39mm39
GRCm38395,314,771 - 95,323,599 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl395,314,791 - 95,323,599 (+)EnsemblGRCm38mm10GRCm38
MGSCv37395,119,174 - 95,127,492 (+)NCBIGRCm37mm9NCBIm37
MGSCv36395,400,656 - 95,408,974 (+)NCBImm8
Celera396,746,553 - 96,754,871 (+)NCBICelera
Cytogenetic Map3F2.1NCBI
Cers2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22182,890,527 - 182,898,805 (+)NCBI
Rnor_6.0 Ensembl2196,487,656 - 196,496,986 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.02196,487,656 - 196,495,930 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02215,986,084 - 215,994,362 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42190,224,017 - 190,232,275 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12190,186,196 - 190,195,027 (+)NCBI
Celera2175,424,025 - 175,432,283 (+)NCBICelera
Cytogenetic Map2q34NCBI
Cers2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955588336,083 - 342,599 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955588338,381 - 342,139 (-)NCBIChiLan1.0ChiLan1.0
CERS2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11129,962,894 - 129,973,074 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1129,962,022 - 129,972,722 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01126,314,483 - 126,324,312 (-)NCBIMhudiblu_PPA_v0panPan3
CERS2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1760,070,585 - 60,081,502 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11760,069,723 - 60,073,622 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Cers2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365801,192,843 - 1,201,863 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CERS2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl498,250,490 - 98,260,495 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1498,250,773 - 98,260,504 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24107,504,661 - 107,514,743 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CERS2
(Chlorocebus sabaeus - African green monkey)
No map positions available.
Cers2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462477218,851,681 - 18,855,267 (+)NCBI

Position Markers
IB3045  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371150,937,796 - 150,938,043UniSTSGRCh37
Build 361149,204,420 - 149,204,667RGDNCBI36
Celera1124,053,491 - 124,053,738RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,314,924 - 122,315,171UniSTS
GeneMap99-GB4 RH Map1552.04UniSTS
Whitehead-RH Map1636.1UniSTS
NCBI RH Map1940.5UniSTS
RH64627  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371150,938,521 - 150,938,657UniSTSGRCh37
Build 361149,205,145 - 149,205,281RGDNCBI36
Celera1124,054,216 - 124,054,352RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,315,649 - 122,315,785UniSTS
GeneMap99-GB4 RH Map1543.71UniSTS
NCBI RH Map11059.6UniSTS
LASS2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371150,939,067 - 150,939,260UniSTSGRCh37
Celera1124,054,762 - 124,054,955UniSTS
HuRef1122,316,195 - 122,316,388UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR222hsa-miR-222-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI22393241
MIR221hsa-miR-221-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI22393241

Predicted Target Of
Summary Value
Count of predictions:4118
Count of miRNA genes:1079
Interacting mature miRNAs:1389
Transcripts:ENST00000271688, ENST00000345896, ENST00000361419, ENST00000368949, ENST00000368954, ENST00000421609, ENST00000457392, ENST00000460664, ENST00000482825, ENST00000558062, ENST00000559020, ENST00000559660, ENST00000560793, ENST00000561294
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 1 1 1
Medium 2432 2805 1720 621 1902 463 4003 1730 3516 414 1443 1605 171 1204 2443 4
Low 7 186 5 2 49 1 353 467 218 5 17 7 4 1 345 2 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_022075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF177338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF189062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX083332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY091458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM069521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM764143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ219926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU543940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA019883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R94703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000271688   ⟹   ENSP00000271688
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1150,965,173 - 150,975,003 (-)Ensembl
RefSeq Acc Id: ENST00000345896
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1150,965,173 - 150,974,843 (-)Ensembl
RefSeq Acc Id: ENST00000361419   ⟹   ENSP00000355020
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1150,967,067 - 150,974,826 (-)Ensembl
RefSeq Acc Id: ENST00000368949   ⟹   ENSP00000357945
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1150,966,564 - 150,971,935 (-)Ensembl
RefSeq Acc Id: ENST00000368954   ⟹   ENSP00000357950
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1150,965,173 - 150,975,004 (-)Ensembl
RefSeq Acc Id: ENST00000421609   ⟹   ENSP00000393239
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1150,967,427 - 150,974,477 (-)Ensembl
RefSeq Acc Id: ENST00000457392   ⟹   ENSP00000394012
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1150,968,107 - 150,974,435 (-)Ensembl
RefSeq Acc Id: ENST00000460664
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1150,966,487 - 150,968,172 (-)Ensembl
RefSeq Acc Id: ENST00000482825
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1150,960,583 - 150,967,631 (-)Ensembl
RefSeq Acc Id: ENST00000558062   ⟹   ENSP00000452810
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1150,967,147 - 150,969,318 (-)Ensembl
RefSeq Acc Id: ENST00000559020
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1150,967,382 - 150,968,478 (-)Ensembl
RefSeq Acc Id: ENST00000559660
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1150,967,131 - 150,968,132 (-)Ensembl
RefSeq Acc Id: ENST00000560793   ⟹   ENSP00000453297
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1150,965,173 - 150,967,725 (-)Ensembl
RefSeq Acc Id: ENST00000561294   ⟹   ENSP00000454160
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1150,963,670 - 150,969,112 (-)Ensembl
RefSeq Acc Id: NM_022075   ⟹   NP_071358
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,965,186 - 150,974,835 (-)NCBI
GRCh371150,937,649 - 150,947,479 (-)NCBI
Build 361149,204,273 - 149,214,064 (-)NCBI Archive
Celera1124,053,344 - 124,063,135 (-)RGD
HuRef1122,314,777 - 122,324,583 (-)NCBI
CHM1_11152,332,969 - 152,342,798 (-)NCBI
Sequence:
RefSeq Acc Id: NM_181746   ⟹   NP_859530
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,965,186 - 150,974,835 (-)NCBI
GRCh371150,937,649 - 150,947,479 (-)NCBI
Build 361149,204,273 - 149,214,064 (-)NCBI Archive
Celera1124,053,344 - 124,063,135 (-)RGD
HuRef1122,314,777 - 122,324,583 (-)NCBI
CHM1_11152,332,969 - 152,342,798 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011509451   ⟹   XP_011507753
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,965,184 - 150,971,936 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011509452   ⟹   XP_011507754
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,965,184 - 150,974,472 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_071358   ⟸   NM_022075
- UniProtKB: Q96G23 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_859530   ⟸   NM_181746
- UniProtKB: Q96G23 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011507754   ⟸   XM_011509452
- Peptide Label: isoform X2
- UniProtKB: Q96G23 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011507753   ⟸   XM_011509451
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000452810   ⟸   ENST00000558062
RefSeq Acc Id: ENSP00000355020   ⟸   ENST00000361419
RefSeq Acc Id: ENSP00000271688   ⟸   ENST00000271688
RefSeq Acc Id: ENSP00000453297   ⟸   ENST00000560793
RefSeq Acc Id: ENSP00000394012   ⟸   ENST00000457392
RefSeq Acc Id: ENSP00000454160   ⟸   ENST00000561294
RefSeq Acc Id: ENSP00000357950   ⟸   ENST00000368954
RefSeq Acc Id: ENSP00000357945   ⟸   ENST00000368949
RefSeq Acc Id: ENSP00000393239   ⟸   ENST00000421609
Protein Domains
Homeobox   TLC

Promoters
RGD ID:6785926
Promoter ID:HG_KWN:4965
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000084903,   OTTHUMT00000084904,   OTTHUMT00000084905,   OTTHUMT00000095837
Position:
Human AssemblyChrPosition (strand)Source
Build 361149,205,926 - 149,208,032 (-)MPROMDB
RGD ID:6785929
Promoter ID:HG_KWN:4966
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:ENST00000368949,   OTTHUMT00000084899
Position:
Human AssemblyChrPosition (strand)Source
Build 361149,211,461 - 149,211,961 (-)MPROMDB
RGD ID:6785923
Promoter ID:HG_KWN:4968
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_181746,   OTTHUMT00000084897,   OTTHUMT00000084900,   OTTHUMT00000084901,   OTTHUMT00000084902,   UC009WMH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361149,213,596 - 149,214,096 (-)MPROMDB
RGD ID:6857002
Promoter ID:EPDNEW_H1666
Type:initiation region
Name:CERS2_1
Description:ceramide synthase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1667  EPDNEW_H1673  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,974,835 - 150,974,895EPDNEW
RGD ID:6857004
Promoter ID:EPDNEW_H1667
Type:multiple initiation site
Name:CERS2_2
Description:ceramide synthase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1666  EPDNEW_H1673  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,977,179 - 150,977,239EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2
pathogenic
GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV000223957] Chr1:144927578..153223600 [GRCh37]
Chr1:1q21.1-21.3
pathogenic
GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3 copy number gain See cases [RCV000447109] Chr1:143753740..151399970 [GRCh37]
Chr1:1q21.1-21.3
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3 copy number gain not provided [RCV000684655] Chr1:150853044..154647786 [GRCh37]
Chr1:1q21.3
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_022075.5(CERS2):c.597T>C (p.Ser199=) single nucleotide variant not provided [RCV000950064] Chr1:150967407 [GRCh38]
Chr1:150939883 [GRCh37]
Chr1:1q21.3
benign
NM_022075.5(CERS2):c.456C>T (p.Ala152=) single nucleotide variant not provided [RCV000950065] Chr1:150967832 [GRCh38]
Chr1:150940308 [GRCh37]
Chr1:1q21.3
benign
NM_022075.5(CERS2):c.762C>T (p.Tyr254=) single nucleotide variant not provided [RCV000961905] Chr1:150966842 [GRCh38]
Chr1:150939318 [GRCh37]
Chr1:1q21.3
benign
NM_022075.5(CERS2):c.358C>T (p.Arg120Cys) single nucleotide variant Marfanoid habitus and intellectual disability [RCV000850470] Chr1:150968135 [GRCh38]
Chr1:150940611 [GRCh37]
Chr1:1q21.3
uncertain significance
GRCh37/hg19 1q21.3(chr1:150611086-150941270)x1 copy number loss not provided [RCV001258473] Chr1:150611086..150941270 [GRCh37]
Chr1:1q21.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14076 AgrOrtholog
COSMIC CERS2 COSMIC
Ensembl Genes ENSG00000143418 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000271688 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000355020 UniProtKB/TrEMBL
  ENSP00000357945 UniProtKB/TrEMBL
  ENSP00000357950 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000393239 UniProtKB/TrEMBL
  ENSP00000394012 UniProtKB/TrEMBL
  ENSP00000452810 UniProtKB/TrEMBL
  ENSP00000453297 UniProtKB/TrEMBL
  ENSP00000454160 UniProtKB/TrEMBL
Ensembl Transcript ENST00000271688 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000361419 UniProtKB/TrEMBL
  ENST00000368949 UniProtKB/TrEMBL
  ENST00000368954 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000421609 UniProtKB/TrEMBL
  ENST00000457392 UniProtKB/TrEMBL
  ENST00000558062 UniProtKB/TrEMBL
  ENST00000560793 UniProtKB/TrEMBL
  ENST00000561294 UniProtKB/TrEMBL
GTEx ENSG00000143418 GTEx
HGNC ID HGNC:14076 ENTREZGENE
Human Proteome Map CERS2 Human Proteome Map
InterPro Homeobox-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lag1/Lac1-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TLC-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:29956 UniProtKB/Swiss-Prot
NCBI Gene 29956 ENTREZGENE
OMIM 606920 OMIM
PANTHER PTHR12560 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Homeodomain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRAM_LAG1_CLN8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30300 PharmGKB
PIRSF LAG1_LAC1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE HOMEOBOX_2 UniProtKB/TrEMBL
  TLC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TLC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46689 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt CERS2_HUMAN UniProtKB/Swiss-Prot
  H0YKH6_HUMAN UniProtKB/TrEMBL
  H0YLQ6_HUMAN UniProtKB/TrEMBL
  H0YNU7_HUMAN UniProtKB/TrEMBL
  Q5SZE1_HUMAN UniProtKB/TrEMBL
  Q5SZE2_HUMAN UniProtKB/TrEMBL
  Q5SZE3_HUMAN UniProtKB/TrEMBL
  Q5SZE4_HUMAN UniProtKB/TrEMBL
  Q96G23 ENTREZGENE
UniProt Secondary D3DV06 UniProtKB/Swiss-Prot
  Q5SZE5 UniProtKB/Swiss-Prot
  Q9HD96 UniProtKB/Swiss-Prot
  Q9NW79 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-09-01 CERS2  ceramide synthase 2  CERS2  ceramide synthase 2  Symbol and/or name change 5135510 APPROVED
2011-07-27 CERS2  ceramide synthase 2  LASS2  LAG1 homolog, ceramide synthase 2  Symbol and/or name change 5135510 APPROVED