ENSG00000075651
Homo sapiens | |
Features
| Gene ID: | ENSG00000075651 | | | | | Biological name : | PLD1 | | | | | Synonyms : | phospholipase D1 / PLD1 / Q13393 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 3 | | Strand: | -1 | | Band: | q26.31 | | Gene start: | 171600405 | | Gene end: | 171810950 | | | | | Corresponding Affymetrix probe sets: | 1557126_a_at (Human Genome U133 Plus 2.0 Array) 1569660_at (Human Genome U133 Plus 2.0 Array) 177_at (Human Genome U133 Plus 2.0 Array) 205203_at (Human Genome U133 Plus 2.0 Array) 215723_s_at (Human Genome U133 Plus 2.0 Array) 215724_at (Human Genome U133 Plus 2.0 Array) 226636_at (Human Genome U133 Plus 2.0 Array) 232530_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000400639
Ensembl peptide - ENSP00000395556
Ensembl peptide - ENSP00000486967
Ensembl peptide - ENSP00000328422
Ensembl peptide - ENSP00000342793
Ensembl peptide - ENSP00000348681
Ensembl peptide - ENSP00000391164
NCBI entrez gene - 5337
See in Manteia.
OMIM - 602382
RefSeq - XM_017006623
RefSeq - NM_001130081
RefSeq - NM_002662
RefSeq - XM_005247533
RefSeq - XM_005247534
RefSeq - XM_011512897
RefSeq - XM_011512898
RefSeq Peptide - NP_001123553
RefSeq Peptide - NP_002653
swissprot - H7C0L3
swissprot - Q13393
swissprot - C9IY79
swissprot - Q8WYW5
swissprot - F8WBV7
Ensembl - ENSG00000075651
| | | | | Related genetic diseases (OMIM): | 212093 - Cardiac valvular defect, developmental, 212093 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0000023 | Inguinal hernia | |
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| | HP:0000072 | Hydroureter | "The distention of the ureter with urine." [HPO:curators] |
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| | HP:0000126 | Hydronephrosis | |
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| | HP:0000969 | Edema | "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability." [HPO:curators] |
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| | HP:0001634 | Mitral valve prolapse | |
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| | HP:0001655 | Patent foramen ovale | |
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| | HP:0001704 | Tricuspid valve prolapse | |
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| | HP:0001718 | Mitral stenosis | |
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| | HP:0001789 | Hydrops fetalis | |
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| | HP:0005180 | Tricuspid insufficiency | |
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| | HP:0008722 | Urethral diverticulum | "The presence of a diverticulum (sac or pouch) in the wall of the urethra." [HPO:curators] |
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| | HP:0031014 | Arteria lusoria | "Usually, three large arteries arise from the arch of the aorta: the brachiocephalic trunk (divided into the right common carotid artery and the right subclavian artery), the left common carotid artery, and the left subclavian artery. However, when aberrant right subclavian artery variant is present, the brachiocephalic trunk is absent and four large arteries arise from the arch of the aorta: the right common carotid artery, the left common carotid artery, the left subclavian artery, and the final one with the most distal left sided origin, the right subclavian artery, also called the arteria lusoria." [PMID:25105156] |
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Interacting proteins (from Reactome)
No match
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