 Gene Ontology Annotations | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cellular Component
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Analyze GeneStrainQTL List |
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Cellular Component
Molecular Function
Molecular Pathway AnnotationsGene-Chemical Interaction Annotations
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Gene Ontology AnnotationsBiological Process
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Cellular Component
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Molecular Function
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Molecular Pathway AnnotationsReferences - curated| 1. | GOA_HUMAN data from the GO Consortium |
| 2. | Pipeline to import KEGG annotations from KEGG into RGD |
| 3. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 4. | RGD automated import pipeline for gene-chemical interactions |
References - uncurated| PubMed | 9407135 9806839 9889000 11780052 12457874 12477932 14702039 15342556 15489334 17081983 19913121 19946888 20379614 20628086 21516116 21873635 21988832 23464991 24623722 25375833 26638075 26946540 29507755 29509190 29568061 30352685 |
Genomics
Comparative Map Data| CDS2 (Homo sapiens - human) |
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| Cds2 (Mus musculus - house mouse) |
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| Cds2 (Rattus norvegicus - Norway rat) |
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| Cds2 (Chinchilla lanigera - long-tailed chinchilla) |
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| CDS2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| CDS2 (Canis lupus familiaris - dog) |
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| Cds2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| CDS2 (Sus scrofa - pig) |
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Position Markers| RH28677 |
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| Z94657 |
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| CDS2_8852 |
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| RH18488 |
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miRNA Target Status
Predicted Target Of
| 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. |
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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: | NM_003818 ⟹ NP_003809 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
ATTTGCGCCATTGGTGGATATTCCGGACCGTGATGGTGGCGCTGCGCGTGCGCACTCGCTCCGAhide sequence |
| RefSeq Acc Id: | XM_006723660 ⟹ XP_006723723 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GAGCTCTCGGGTCGGGGCTAGGGAAGGCTGACCCCGCTCGGCCCGGGTGAAAGGGCGGTGACGGhide sequence |
| RefSeq Acc Id: | XM_011529390 ⟹ XP_011527692 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
TGCTCCGGCGGCTTCGCTGCTAGCTCGCGGCGACGTCGGGCCGATTTTCCCAGGATGACAGAGChide sequence |
| RefSeq Acc Id: | XM_024452016 ⟹ XP_024307784 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CCTCGGGTGCCCGGCCTTCGCGGCGCGCGCGTCAGGGGTCGGCGGGTCGGGGTCCCGGCTCAGGhide sequence |
Protein Sequences| Protein RefSeqs | NP_003809 | (Get FASTA) | NCBI Sequence Viewer |
| XP_006723723 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011527692 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024307784 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAC78305 | (Get FASTA) | NCBI Sequence Viewer |
| AAH25751 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG37873 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG50907 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG51366 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG64477 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG65518 | (Get FASTA) | NCBI Sequence Viewer | |
| CAA76270 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX10424 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX10425 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX10426 | (Get FASTA) | NCBI Sequence Viewer | |
| O95674 | (Get FASTA) | NCBI Sequence Viewer |
Reference Sequences
| RefSeq Acc Id: | NP_003809 ⟸ NM_003818 |
| - UniProtKB: | O95674 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MTELRQRVAHEPVAPPEDKESESEAKVDGETASDSESRAESAPLPVSADDTPEVLNRALSNLSShide sequence |
| RefSeq Acc Id: | XP_006723723 ⟸ XM_006723660 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MTELRQRVAHEPVAPPEDKESESEAKVDGETASDSESRAESAPLPVSADDTPEVLNRALSNLSShide sequence |
| RefSeq Acc Id: | XP_011527692 ⟸ XM_011529390 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MIAFFFIIIYLGPMVLMIIVMCVQIKCFHEIITIGYNVYHSYDLPWFRTLSWYFLLCVNYFFYGhide sequence |
| RefSeq Acc Id: | XP_024307784 ⟸ XM_024452016 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MIAFFFIIIYLGPMVLMIIVMCVQIKCFHEIITIGYNVYHSYDLPWFRTLSWYFLLCVNYFFYGhide sequence |
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: |
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| 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/) | |||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
| Position: |
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| 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/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
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| 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/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
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Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051227]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051227]|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 | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051041]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051041]|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 | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052760]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052760]|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 | Laryngomalacia [RCV000052995]|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 |
Additional Information
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:1801 | AgrOrtholog |
| COSMIC | CDS2 | COSMIC |
| Ensembl Genes | ENSG00000101290 | 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 |
| UniGene | Hs.126857 | ENTREZGENE |
| 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 |
 |
| More on CDS2 | |
|
Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
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NCBI Genome Data Viewer |
| RGD Object Information | |
| RGD ID: | 731362 |
| Created: | 2004-01-12 |
| Species: | Homo sapiens |
| Last Modified: | 2019-10-08 |
| Status: | ACTIVE |
