CDS2 (CDP-diacylglycerol synthase 2) - Rat Genome Database
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Gene: CDS2 (CDP-diacylglycerol synthase 2) Homo sapiens
Analyze
Symbol: CDS2
Name: CDP-diacylglycerol synthase 2
RGD ID: 731362
HGNC Page HGNC
Description: Exhibits phosphatidate cytidylyltransferase activity. Involved in CDP-diacylglycerol biosynthetic process and lipid droplet formation. Localizes to endoplasmic reticulum.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CDP-DAG synthase 2; CDP-DG synthase 2; CDP-DG synthetase 2; CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2; CDP-diglyceride diphosphorylase 2; CDP-diglyceride pyrophosphorylase 2; CDP-diglyceride synthase 2; CDP-diglyceride synthetase 2; CDS 2; CTP:phosphatidate cytidylyltransferase 2; FLJ12936; FLJ38111; FLJ41837; phosphatidate cytidylyltransferase 2
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 Ensembl205,126,879 - 5,197,887 (+)EnsemblGRCh38hg38GRCh38
GRCh38205,126,844 - 5,197,887 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37205,107,654 - 5,178,533 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36205,055,482 - 5,119,989 (+)NCBINCBI36hg18NCBI36
Build 34205,055,481 - 5,119,987NCBI
Celera205,177,503 - 5,242,010 (+)NCBI
Cytogenetic Map20p12.3NCBI
HuRef205,061,336 - 5,132,462 (+)NCBIHuRef
CHM1_1205,108,785 - 5,179,904 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:9407135   PMID:9806839   PMID:9889000   PMID:11780052   PMID:12457874   PMID:12477932   PMID:14702039   PMID:15342556   PMID:15489334   PMID:17081983   PMID:19913121   PMID:19946888  
PMID:20379614   PMID:20628086   PMID:21516116   PMID:21873635   PMID:21988832   PMID:22810586   PMID:23464991   PMID:24623722   PMID:25375833   PMID:26058080   PMID:26638075   PMID:26946540  
PMID:28380382   PMID:29507755   PMID:29509190   PMID:29568061   PMID:30352685   PMID:31091453   PMID:31391242   PMID:31548309   PMID:32296183   PMID:32814053   PMID:33060197  


Genomics

Comparative Map Data
CDS2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl205,126,879 - 5,197,887 (+)EnsemblGRCh38hg38GRCh38
GRCh38205,126,844 - 5,197,887 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37205,107,654 - 5,178,533 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36205,055,482 - 5,119,989 (+)NCBINCBI36hg18NCBI36
Build 34205,055,481 - 5,119,987NCBI
Celera205,177,503 - 5,242,010 (+)NCBI
Cytogenetic Map20p12.3NCBI
HuRef205,061,336 - 5,132,462 (+)NCBIHuRef
CHM1_1205,108,785 - 5,179,904 (+)NCBICHM1_1
Cds2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392132,105,068 - 132,153,970 (+)NCBIGRCm39mm39
GRCm39 Ensembl2132,105,068 - 132,153,970 (+)Ensembl
GRCm382132,253,338 - 132,312,050 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2132,263,148 - 132,312,050 (+)EnsemblGRCm38mm10GRCm38
MGSCv372132,088,993 - 132,137,777 (+)NCBIGRCm37mm9NCBIm37
MGSCv362131,954,698 - 132,003,482 (+)NCBImm8
Celera2133,486,542 - 133,537,001 (+)NCBICelera
Cytogenetic Map2F2NCBI
cM Map264.15NCBI
Cds2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.23119,514,963 - 119,553,555 (+)NCBI
Rnor_6.0 Ensembl3124,896,618 - 124,935,226 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.03124,896,657 - 124,935,221 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.03131,392,178 - 131,430,664 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43120,025,455 - 120,063,992 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.13119,931,027 - 119,969,565 (+)NCBI
Celera3118,312,509 - 118,351,088 (+)NCBICelera
Cytogenetic Map3q36NCBI
Cds2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541515,792,239 - 15,806,454 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541515,762,672 - 15,806,454 (+)NCBIChiLan1.0ChiLan1.0
CDS2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1204,939,578 - 5,010,579 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl204,939,578 - 5,002,977 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0205,146,754 - 5,218,051 (+)NCBIMhudiblu_PPA_v0panPan3
CDS2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl2416,414,682 - 16,469,759 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.12416,407,869 - 16,469,855 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Cds2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493648513,684,609 - 13,754,357 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CDS2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1714,142,587 - 14,220,839 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11714,151,810 - 14,220,841 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21715,142,037 - 15,203,537 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CDS2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1232,867,065 - 32,936,456 (-)NCBI
ChlSab1.1 Ensembl232,874,699 - 32,935,813 (-)Ensembl
Cds2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247416,159,561 - 6,231,967 (+)NCBI

Position Markers
RH28677  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37205,171,865 - 5,171,953UniSTSGRCh37
Build 36205,119,865 - 5,119,953RGDNCBI36
Celera205,241,886 - 5,241,974RGD
Cytogenetic Map20p13UniSTS
HuRef205,125,795 - 5,125,883UniSTS
Z94657  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37205,132,775 - 5,132,900UniSTSGRCh37
Build 36205,080,775 - 5,080,900RGDNCBI36
Celera205,202,796 - 5,202,921RGD
Cytogenetic Map20p13UniSTS
HuRef205,086,704 - 5,086,829UniSTS
CDS2_8852  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37205,171,148 - 5,172,025UniSTSGRCh37
Build 36205,119,148 - 5,120,025RGDNCBI36
Celera205,241,169 - 5,242,046RGD
HuRef205,125,078 - 5,125,955UniSTS
RH18488  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37205,171,810 - 5,171,910UniSTSGRCh37
Build 36205,119,810 - 5,119,910RGDNCBI36
Celera205,241,831 - 5,241,931RGD
Cytogenetic Map20p13UniSTS
HuRef205,125,740 - 5,125,840UniSTS
GeneMap99-GB4 RH Map2021.19UniSTS
NCBI RH Map2040.4UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5032
Count of miRNA genes:1396
Interacting mature miRNAs:1867
Transcripts:ENST00000379062, ENST00000379070, ENST00000450570, ENST00000460006, ENST00000467923, ENST00000468817, ENST00000486875, ENST00000535100
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
Medium 1914 2264 1243 140 1499 112 2468 1136 3317 328 1281 1576 42 1067 1451 3
Low 525 727 483 484 452 353 1888 1061 417 91 179 37 133 1 137 1337 3 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_003818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006723660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF069532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC044234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP353230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y16521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000379070
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl205,176,102 - 5,191,354 (+)Ensembl
RefSeq Acc Id: ENST00000450570   ⟹   ENSP00000403205
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl205,126,927 - 5,186,774 (+)Ensembl
RefSeq Acc Id: ENST00000460006   ⟹   ENSP00000419879
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl205,127,008 - 5,197,887 (+)Ensembl
RefSeq Acc Id: ENST00000467923
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl205,126,879 - 5,183,178 (+)Ensembl
RefSeq Acc Id: ENST00000468817
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl205,127,009 - 5,187,879 (+)Ensembl
RefSeq Acc Id: ENST00000486875
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl205,127,048 - 5,175,652 (+)Ensembl
RefSeq Acc Id: NM_003818   ⟹   NP_003809
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38205,127,008 - 5,197,887 (+)NCBI
GRCh37205,107,407 - 5,178,533 (+)ENTREZGENE
Build 36205,055,482 - 5,119,989 (+)NCBI Archive
Celera205,177,503 - 5,242,010 (+)RGD
HuRef205,061,336 - 5,132,462 (+)ENTREZGENE
CHM1_1205,108,785 - 5,179,904 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006723660   ⟹   XP_006723723
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38205,126,844 - 5,197,887 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529390   ⟹   XP_011527692
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38205,127,039 - 5,197,887 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452016   ⟹   XP_024307784
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38205,127,292 - 5,197,887 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003809   ⟸   NM_003818
- UniProtKB: O95674 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006723723   ⟸   XM_006723660
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011527692   ⟸   XM_011529390
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024307784   ⟸   XM_024452016
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000403205   ⟸   ENST00000450570
RefSeq Acc Id: ENSP00000419879   ⟸   ENST00000460006

Promoters
RGD ID:6798891
Promoter ID:HG_KWN:38492
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000077852,   OTTHUMT00000077855,   OTTHUMT00000077856,   OTTHUMT00000077857,   OTTHUMT00000077858,   UC002WLR.1,   UC002WLU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36205,055,126 - 5,056,287 (-)MPROMDB
RGD ID:13206305
Promoter ID:EPDNEW_H26733
Type:initiation region
Name:CDS2_3
Description:CDP-diacylglycerol synthase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26736  EPDNEW_H26735  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38205,120,189 - 5,120,249EPDNEW
RGD ID:13206311
Promoter ID:EPDNEW_H26735
Type:initiation region
Name:CDS2_1
Description:CDP-diacylglycerol synthase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26733  EPDNEW_H26736  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38205,126,814 - 5,126,874EPDNEW
RGD ID:13206309
Promoter ID:EPDNEW_H26736
Type:initiation region
Name:CDS2_2
Description:CDP-diacylglycerol synthase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26733  EPDNEW_H26735  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38205,126,970 - 5,127,030EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3 copy number gain See cases [RCV000051227] Chr20:89939..25697564 [GRCh38]
Chr20:70580..25678200 [GRCh37]
Chr20:18580..25626200 [NCBI36]
Chr20:20p13-11.21
pathogenic
GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3 copy number gain See cases [RCV000051041] Chr20:89939..19146279 [GRCh38]
Chr20:70580..19126923 [GRCh37]
Chr20:18580..19074923 [NCBI36]
Chr20:20p13-11.23
pathogenic
GRCh38/hg38 20p13-12.3(chr20:5030412-5435054)x3 copy number gain See cases [RCV000052760] Chr20:5030412..5435054 [GRCh38]
Chr20:5011058..5415700 [GRCh37]
Chr20:4959058..5363700 [NCBI36]
Chr20:20p13-12.3
uncertain significance
GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3 copy number gain See cases [RCV000052995] Chr20:89939..19071495 [GRCh38]
Chr20:70580..19052139 [GRCh37]
Chr20:18580..19000139 [NCBI36]
Chr20:20p13-11.23
pathogenic
GRCh38/hg38 20p13-11.22(chr20:89939-21787252)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|See cases [RCV000052996] Chr20:89939..21787252 [GRCh38]
Chr20:70580..21767890 [GRCh37]
Chr20:18580..21715890 [NCBI36]
Chr20:20p13-11.22
pathogenic
GRCh38/hg38 20p13-12.1(chr20:89939-14818511)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|See cases [RCV000052997] Chr20:89939..14818511 [GRCh38]
Chr20:70580..14799157 [GRCh37]
Chr20:18580..14747157 [NCBI36]
Chr20:20p13-12.1
pathogenic
NM_003818.3(CDS2):c.367C>T (p.Pro123Ser) single nucleotide variant Malignant melanoma [RCV000072699] Chr20:5176723 [GRCh38]
Chr20:5157369 [GRCh37]
Chr20:5105369 [NCBI36]
Chr20:20p12.3
not provided
GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3 copy number gain See cases [RCV000133996] Chr20:80106..30227427 [GRCh38]
Chr20:60747..29462103 [GRCh37]
Chr20:8747..28075764 [NCBI36]
Chr20:20p13-q11.1
pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33
pathogenic
GRCh38/hg38 20p13-12.3(chr20:4343033-6911730)x1 copy number loss See cases [RCV000137695] Chr20:4343033..6911730 [GRCh38]
Chr20:4323680..6892377 [GRCh37]
Chr20:4271680..6840377 [NCBI36]
Chr20:20p13-12.3
pathogenic
GRCh38/hg38 20p13-12.3(chr20:5039774-5645855)x3 copy number gain See cases [RCV000137853] Chr20:5039774..5645855 [GRCh38]
Chr20:5020420..5626501 [GRCh37]
Chr20:4968420..5574501 [NCBI36]
Chr20:20p13-12.3
uncertain significance
GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3 copy number gain See cases [RCV000138677] Chr20:80106..13029401 [GRCh38]
Chr20:60747..13010049 [GRCh37]
Chr20:8747..12958049 [NCBI36]
Chr20:20p13-12.1
pathogenic
GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3 copy number gain See cases [RCV000139597] Chr20:80093..6386012 [GRCh38]
Chr20:60734..6366659 [GRCh37]
Chr20:8734..6314659 [NCBI36]
Chr20:20p13-12.3
pathogenic
GRCh38/hg38 20p13-12.3(chr20:4926195-5543771)x3 copy number gain See cases [RCV000139625] Chr20:4926195..5543771 [GRCh38]
Chr20:4906841..5524417 [GRCh37]
Chr20:4854841..5472417 [NCBI36]
Chr20:20p13-12.3
uncertain significance
GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3 copy number gain See cases [RCV000141348] Chr20:84402..6159078 [GRCh38]
Chr20:65043..6139725 [GRCh37]
Chr20:13043..6087725 [NCBI36]
Chr20:20p13-12.3
pathogenic
GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3 copy number gain See cases [RCV000142017] Chr20:80927..26324843 [GRCh38]
Chr20:61568..26305479 [GRCh37]
Chr20:9568..26253479 [NCBI36]
Chr20:20p13-11.1
pathogenic
GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3 copy number gain See cases [RCV000142285] Chr20:80927..5447679 [GRCh38]
Chr20:61568..5428325 [GRCh37]
Chr20:9568..5376325 [NCBI36]
Chr20:20p13-12.3
uncertain significance
GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3 copy number gain See cases [RCV000142917] Chr20:1269303..8626911 [GRCh38]
Chr20:1249947..8607558 [GRCh37]
Chr20:1197947..8555558 [NCBI36]
Chr20:20p13-12.3
pathogenic
GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3 copy number gain See cases [RCV000143426] Chr20:80928..18688031 [GRCh38]
Chr20:61569..18668675 [GRCh37]
Chr20:9569..18616675 [NCBI36]
Chr20:20p13-11.23
pathogenic
GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3 copy number gain See cases [RCV000239772] Chr20:121521..5564937 [GRCh37]
Chr20:20p13-12.3
pathogenic
GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3 copy number gain See cases [RCV000239954] Chr20:80198..26075841 [GRCh37]
Chr20:20p13-11.1
pathogenic
GRCh37/hg19 20p13-12.1(chr20:4392930-12667768)x1 copy number loss See cases [RCV000446718] Chr20:4392930..12667768 [GRCh37]
Chr20:20p13-12.1
pathogenic
GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3 copy number gain not provided [RCV000487461] Chr20:80198..26208081 [GRCh37]
Chr20:20p13-q11.21
pathogenic
GRCh37/hg19 20p13-12.3(chr20:213423-5483406)x3 copy number gain See cases [RCV000510531] Chr20:213423..5483406 [GRCh37]
Chr20:20p13-12.3
uncertain significance
GRCh37/hg19 20p13-12.3(chr20:2463101-8185680)x1 copy number loss See cases [RCV000511897] Chr20:2463101..8185680 [GRCh37]
Chr20:20p13-12.3
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3 copy number gain See cases [RCV000512556] Chr20:61568..10486106 [GRCh37]
Chr20:20p13-12.2
likely pathogenic
GRCh37/hg19 20p13-12.1(chr20:3092739-17091453)x1 copy number loss not provided [RCV000684134] Chr20:3092739..17091453 [GRCh37]
Chr20:20p13-12.1
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3 copy number gain not provided [RCV001007068] Chr20:61568..26305479 [GRCh37]
Chr20:20p13-11.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1801 AgrOrtholog
COSMIC CDS2 COSMIC
Ensembl Genes ENSG00000101290 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000403205 UniProtKB/Swiss-Prot
  ENSP00000419879 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000450570 UniProtKB/Swiss-Prot
  ENST00000460006 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000101290 GTEx
HGNC ID HGNC:1801 ENTREZGENE
Human Proteome Map CDS2 Human Proteome Map
InterPro PC_trans UniProtKB/Swiss-Prot
  PC_Trfase_euk UniProtKB/Swiss-Prot
KEGG Report hsa:8760 UniProtKB/Swiss-Prot
NCBI Gene 8760 ENTREZGENE
OMIM 603549 OMIM
PANTHER PTHR13773 UniProtKB/Swiss-Prot
PharmGKB PA26347 PharmGKB
PIRSF PC_trans_euk UniProtKB/Swiss-Prot
PROSITE CDS UniProtKB/Swiss-Prot
UniProt CDS2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2RDC6 UniProtKB/Swiss-Prot
  D3DW04 UniProtKB/Swiss-Prot
  Q5TDY2 UniProtKB/Swiss-Prot
  Q5TDY3 UniProtKB/Swiss-Prot
  Q5TDY4 UniProtKB/Swiss-Prot
  Q5TDY5 UniProtKB/Swiss-Prot
  Q9BYK5 UniProtKB/Swiss-Prot
  Q9NTT2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 CDS2  CDP-diacylglycerol synthase 2    CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2  Symbol and/or name change 5135510 APPROVED
2011-09-01 CDS2  CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2  CDS2  CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2  Symbol and/or name change 5135510 APPROVED