ENSG00000172572
Homo sapiens | |
Features
| Gene ID: | ENSG00000172572 | | | | | Biological name : | PDE3A | | | | | Synonyms : | PDE3A / phosphodiesterase 3A / Q14432 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 12 | | Strand: | 1 | | Band: | p12.2 | | Gene start: | 20369245 | | Gene end: | 20684381 | | | | | Corresponding Affymetrix probe sets: | 206388_at (Human Genome U133 Plus 2.0 Array) 206389_s_at (Human Genome U133 Plus 2.0 Array) 228507_at (Human Genome U133 Plus 2.0 Array) 236300_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000351957
NCBI entrez gene - 5139
See in Manteia.
OMIM - 123805
RefSeq - XM_017019421
RefSeq - NM_000921
RefSeq - NM_001244683
RefSeq - XM_017019420
RefSeq Peptide - NP_000912
RefSeq Peptide - NP_001231612
swissprot - Q14432
Ensembl - ENSG00000172572
| | | | | Related genetic diseases (OMIM): | 112410 - Hypertension and brachydactyly syndrome, 112410 |
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)
| IPR002073 | 3"5"-cyclic nucleotide phosphodiesterase, catalytic domain | | IPR003607 | HD/PDEase domain | | IPR023174 | 3"5"-cyclic nucleotide phosphodiesterase, conserved site | | IPR036971 | 3"5"-cyclic nucleotide phosphodiesterase, catalytic domain superfamily |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000006 | Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| | HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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| | HP:0001156 | Brachydactyly | |
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| | HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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| | HP:0009803 | Hypoplastic/small phalanges of the hand | |
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| | HP:0010049 | Hypoplastic/short metacarpal bones | |
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| | HP:0010579 | Cone-shaped epiphyses | |
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Interacting proteins (from Reactome)
No match
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