Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | PLD2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | PLD2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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PLD2 (Canis lupus familiaris - dog) |
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PLD2 (Homo sapiens - human) |
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Pld2 (Mus musculus - house mouse) |
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Pld2 (Rattus norvegicus - Norway rat) |
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Pld2 (Chinchilla lanigera - long-tailed chinchilla) |
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PLD2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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Pld2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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PLD2 (Sus scrofa - pig) |
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PLD2 (Chlorocebus sabaeus - green monkey) |
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Pld2 (Heterocephalus glaber - naked mole-rat) |
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Variants in PLD2
102 total Variants |
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | reproductive system | respiratory system | adipose tissue | |
High | ||||||||||||
Medium | 3 | 11 | 1 | 6 | 11 | 10 | 5 | |||||
Low | 2 | 5 | 11 | 6 | 5 | 6 | 6 | 1 | 8 | 1 | ||
Below cutoff |
RefSeq Transcripts | XM_005620316 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_038475403 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038475404 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038475405 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038514273 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038514278 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038514282 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038536572 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038536573 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038536574 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038600765 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038600766 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038600767 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038665299 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038665300 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038665301 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AAEX04000005 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
JAAHUQ010000062 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAAQRD010000089 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAAUVH010000371 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
REHQ01000005 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSCAFT00000025112 ⟹ ENSCAFP00000023309 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845006677 ⟹ ENSCAFP00845005309 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845006687 ⟹ ENSCAFP00845005319 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845006696 ⟹ ENSCAFP00845005328 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038475403 ⟹ XP_038331331 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038475404 ⟹ XP_038331332 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038475405 ⟹ XP_038331333 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038514273 ⟹ XP_038370201 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038514278 ⟹ XP_038370206 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038514282 ⟹ XP_038370210 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038536572 ⟹ XP_038392500 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038536573 ⟹ XP_038392501 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038536574 ⟹ XP_038392502 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038600765 ⟹ XP_038456693 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038600766 ⟹ XP_038456694 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038600767 ⟹ XP_038456695 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038665299 ⟹ XP_038521227 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038665300 ⟹ XP_038521228 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038665301 ⟹ XP_038521229 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | XP_038331331 | (Get FASTA) | NCBI Sequence Viewer |
XP_038331332 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038331333 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038370201 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038370206 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038370210 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038392500 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038392501 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038392502 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038456693 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038456694 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038456695 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038521227 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038521228 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038521229 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSCAFP00000023309.5 | ||
ENSCAFP00000075052.1 | |||
ENSCAFP00000075321.1 | |||
ENSCAFP00030013294.1 | |||
ENSCAFP00040004216.1 | |||
ENSCAFP00845005309.1 | |||
ENSCAFP00845005319 | |||
ENSCAFP00845005319.1 | |||
ENSCAFP00845005328 | |||
ENSCAFP00845005328.1 |
RefSeq Acc Id: | ENSCAFP00000023309 ⟸ ENSCAFT00000025112 |
RefSeq Acc Id: | XP_038331332 ⟸ XM_038475404 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038331331 ⟸ XM_038475403 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038331333 ⟸ XM_038475405 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038456694 ⟸ XM_038600766 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038456693 ⟸ XM_038600765 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038456695 ⟸ XM_038600767 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038521228 ⟸ XM_038665300 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8C0KB16 (UniProtKB/TrEMBL), A0A8I3MQ29 (UniProtKB/TrEMBL), A0A8P0PRQ2 (UniProtKB/TrEMBL), A0A8I3MTT8 (UniProtKB/TrEMBL), A0A8P0PSR3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038521227 ⟸ XM_038665299 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0MYC8 (UniProtKB/TrEMBL), A0A8C0KFI8 (UniProtKB/TrEMBL), A0A8I3MQR0 (UniProtKB/TrEMBL), A0A8I3MTT8 (UniProtKB/TrEMBL), A0A8P0PSR3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038521229 ⟸ XM_038665301 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8I3MTT8 (UniProtKB/TrEMBL), A0A8P0PSR3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038370206 ⟸ XM_038514278 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8C0KB16 (UniProtKB/TrEMBL), A0A8I3MQ29 (UniProtKB/TrEMBL), A0A8P0PRQ2 (UniProtKB/TrEMBL), A0A8I3MTT8 (UniProtKB/TrEMBL), A0A8P0PSR3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038370201 ⟸ XM_038514273 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0MYC8 (UniProtKB/TrEMBL), A0A8C0KFI8 (UniProtKB/TrEMBL), A0A8I3MQR0 (UniProtKB/TrEMBL), A0A8I3MTT8 (UniProtKB/TrEMBL), A0A8P0PSR3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038370210 ⟸ XM_038514282 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8I3MTT8 (UniProtKB/TrEMBL), A0A8P0PSR3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038392501 ⟸ XM_038536573 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8C0KB16 (UniProtKB/TrEMBL), A0A8I3MQ29 (UniProtKB/TrEMBL), A0A8I3MTT8 (UniProtKB/TrEMBL), A0A8P0PRQ2 (UniProtKB/TrEMBL), A0A8P0PSR3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038392500 ⟸ XM_038536572 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0KFI8 (UniProtKB/TrEMBL), A0A8C0MYC8 (UniProtKB/TrEMBL), A0A8I3MQR0 (UniProtKB/TrEMBL), A0A8I3MTT8 (UniProtKB/TrEMBL), A0A8P0PSR3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038392502 ⟸ XM_038536574 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8I3MTT8 (UniProtKB/TrEMBL), A0A8P0PSR3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSCAFP00845005309 ⟸ ENSCAFT00845006677 |
RefSeq Acc Id: | ENSCAFP00845005328 ⟸ ENSCAFT00845006696 |
RefSeq Acc Id: | ENSCAFP00845005319 ⟸ ENSCAFT00845006687 |
Database | Acc Id | Source(s) |
Ensembl Genes | ENSCAFG00000015843 | Ensembl, UniProtKB/TrEMBL |
ENSCAFG00030008027 | UniProtKB/TrEMBL | |
ENSCAFG00040002559 | UniProtKB/TrEMBL | |
ENSCAFG00845003731 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL | |
Ensembl Transcript | ENSCAFT00000025112.5 | UniProtKB/TrEMBL |
ENSCAFT00000095680.1 | UniProtKB/TrEMBL | |
ENSCAFT00000096987.1 | UniProtKB/TrEMBL | |
ENSCAFT00030015247.1 | UniProtKB/TrEMBL | |
ENSCAFT00040004912.1 | UniProtKB/TrEMBL | |
ENSCAFT00845006677.1 | UniProtKB/TrEMBL | |
ENSCAFT00845006687 | ENTREZGENE | |
ENSCAFT00845006687.1 | UniProtKB/TrEMBL | |
ENSCAFT00845006696 | ENTREZGENE | |
ENSCAFT00845006696.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.30.29.30 | UniProtKB/TrEMBL |
3.30.1520.10 | UniProtKB/TrEMBL | |
Endonuclease Chain A | UniProtKB/TrEMBL | |
InterPro | PH-like_dom_sf | UniProtKB/TrEMBL |
PLD-like_dom | UniProtKB/TrEMBL | |
PLipase_D/transphosphatidylase | UniProtKB/TrEMBL | |
PLipase_D_euk | UniProtKB/TrEMBL | |
PLipase_D_fam | UniProtKB/TrEMBL | |
PX_dom | UniProtKB/TrEMBL | |
PX_dom_sf | UniProtKB/TrEMBL | |
NCBI Gene | PLD2 | ENTREZGENE |
PANTHER | PHOSPHOLIPASE D2 | UniProtKB/TrEMBL |
PTHR18896 | UniProtKB/TrEMBL | |
Pfam | PF00787 | UniProtKB/TrEMBL |
PLDc | UniProtKB/TrEMBL | |
PLDc_2 | UniProtKB/TrEMBL | |
PIRSF | Phospholipase_D_euk | UniProtKB/TrEMBL |
PROSITE | PLD | UniProtKB/TrEMBL |
PS50195 | UniProtKB/TrEMBL | |
SMART | PLDc | UniProtKB/TrEMBL |
SM00312 | UniProtKB/TrEMBL | |
Superfamily-SCOP | PH domain-like | UniProtKB/TrEMBL |
Phospholipase D/nuclease | UniProtKB/TrEMBL | |
SSF64268 | UniProtKB/TrEMBL | |
UniProt | A0A8C0KB16 | ENTREZGENE |
A0A8C0KFI8 | ENTREZGENE | |
A0A8C0MYC8 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3MQ29 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3MQR0 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3MTT8 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8P0PRQ2 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8P0PSR3 | ENTREZGENE, UniProtKB/TrEMBL | |
VGNC ID | VGNC:44661 | ENTREZGENE |