ENSG00000172572
Homo sapiens PDE3A activity regulation process response -cyclic nucleotide domain camp signaling binding catalytic oocyte metabolic vascular permeability cellular cgmp membrane hydrolase hypoplastic hd pdease conserved site superfamily maturation catabolic lipid signal
Features Gene ID: ENSG00000172572 Biological name :PDE3A Synonyms : PDE3A / / 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 - ENSP000003519575139
See in Manteia .
123805 XM_017019421 NM_000921 NM_001244683 XM_017019420 NP_000912 NP_001231612 Q14432 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 ) anatomical structure development cellular developmental process multicellular organism reproduction developmental maturation nitrogen compound metabolic process biosynthetic process catabolic process cellular metabolic process primary metabolic process small molecule metabolic process organic substance metabolic process cell communication cellular response to stimulus cellular component organization cell cycle response to chemical cell death regulation of biological quality system process response to endogenous stimulus anatomical structure development cellular developmental process multicellular organism reproduction developmental maturation nitrogen compound metabolic process biosynthetic process catabolic process cellular metabolic process primary metabolic process small molecule metabolic process organic substance metabolic process cell communication cellular response to stimulus cellular component organization cell cycle response to chemical cell death regulation of biological quality system process response to endogenous stimulus anatomical structure development cellular developmental process multicellular organism reproduction developmental maturation nitrogen compound metabolic process biosynthetic process catabolic process cellular metabolic process primary metabolic process small molecule metabolic process organic substance metabolic process cell communication cellular response to stimulus cellular component organization cell cycle response to chemical cell death regulation of biological quality system process response to endogenous stimulus anatomical structure development cellular developmental process multicellular organism reproduction developmental maturation nitrogen compound metabolic process biosynthetic process catabolic process cellular metabolic process primary metabolic process small molecule metabolic process organic substance metabolic process cell communication cellular response to stimulus cellular component organization cell cycle response to chemical cell death regulation of biological quality system process response to endogenous stimulus anatomical structure development cellular developmental process multicellular organism reproduction developmental maturation nitrogen compound metabolic process biosynthetic process catabolic process cellular metabolic process primary metabolic process small molecule metabolic process organic substance metabolic process cell communication cellular response to stimulus cellular component organization cell cycle response to chemical cell death regulation of biological quality system process response to endogenous stimulus anatomical structure development cellular developmental process multicellular organism reproduction developmental maturation nitrogen compound metabolic process biosynthetic process catabolic process cellular metabolic process primary metabolic process small molecule metabolic process organic substance metabolic process cell communication cellular response to stimulus cellular component organization cell cycle response to chemical cell death regulation of biological quality system process response to endogenous stimulus anatomical structure development cellular developmental process multicellular organism reproduction developmental maturation nitrogen compound metabolic process biosynthetic process catabolic process cellular metabolic process primary metabolic process small molecule metabolic process organic substance metabolic process cell communication cellular response to stimulus cellular component organization cell cycle response to chemical cell death regulation of biological quality system process response to endogenous stimulus anatomical structure development cellular developmental process multicellular organism reproduction developmental maturation nitrogen compound metabolic process biosynthetic process catabolic process cellular metabolic process primary metabolic process small molecule metabolic process organic substance metabolic process cell communication cellular response to stimulus cellular component organization cell cycle response to chemical cell death regulation of biological quality system process response to endogenous stimulus anatomical structure development cellular developmental process multicellular organism reproduction developmental maturation nitrogen compound metabolic process biosynthetic process catabolic process cellular metabolic process primary metabolic process small molecule metabolic process organic substance metabolic process cell communication cellular response to stimulus cellular component organization cell cycle response to chemical cell death regulation of biological quality system process response to endogenous stimulus anatomical structure development cellular developmental process multicellular organism reproduction developmental maturation nitrogen compound metabolic process biosynthetic process catabolic process cellular metabolic process primary metabolic process small molecule metabolic process organic substance metabolic process cell communication cellular response to stimulus cellular component organization cell cycle response to chemical cell death regulation of biological quality system process response to endogenous stimulus anatomianatomical structure development cellulacellular developmental process multicemulticellular organism reproduction developdevelopmental maturation nitrogenitrogen compound metabolic process biosyntbiosynthetic process catabolcatabolic process cellulacellular metabolic process primaryprimary metabolic process small msmall molecule metabolic process organicorganic substance metabolic process cell cocell communication cellulacellular response to stimulus cellulacellular component organization cell cycell cycle responsresponse to chemical cell decell death regulatregulation of biological quality system system process responsresponse to endogenous stimulus hydrolase activity protein binding ion binding carbohydrate derivative binding organic cyclic compound binding heterocyclic compound binding small molecule binding hydrolase activity protein binding ion binding carbohydrate derivative binding organic cyclic compound binding heterocyclic compound binding small molecule binding hydrolase activity protein binding ion binding carbohydrate derivative binding organic cyclic compound binding heterocyclic compound binding small molecule binding hydrolase activity protein binding ion binding carbohydrate derivative binding organic cyclic compound binding heterocyclic compound binding small molecule binding hydrolase activity protein binding ion binding carbohydrate derivative binding organic cyclic compound binding heterocyclic compound binding small molecule binding hydrolase activity protein binding ion binding carbohydrate derivative binding organic cyclic compound binding heterocyclic compound binding small molecule binding hydrolase activity protein binding ion binding carbohydrate derivative binding organic cyclic compound binding heterocyclic compound binding small molecule binding hydrolase activity protein binding ion binding carbohydrate derivative binding organic cyclic compound binding heterocyclic compound binding small molecule binding hydrolase activity protein binding ion binding carbohydrate derivative binding organic cyclic compound binding heterocyclic compound binding small molecule binding hydrolase activity protein binding ion binding carbohydrate derivative binding organic cyclic compound binding heterocyclic compound binding small molecule binding hydrolase activityhydrolase activity protein bindingprotein binding ion bindingion binding carbohydrate derivatcarbohydrate derivative binding organic cyclic compoorganic cyclic compound binding heterocyclic compounheterocyclic compound binding small molecule bindismall molecule binding cell membrane cell membrane cell membrane cell membrane cell membrane cell membrane cell membrane cell membrane cell membrane cell membrane cellcell membranemembrane
Pathways (from Reactome )Phenotype (from MGI , Zfin or HPO ) Abnormality of the cardiovascular system Abnormality of the musculoskeletal system Abnormality of limbs Growth abnormality Abnormality of the cardiovascular system Abnormality of the musculoskeletal system Abnormality of limbs Growth abnormality Abnormality of the cardiovascular system Abnormality of the musculoskeletal system Abnormality of limbs Growth abnormality Abnormality of the cardiovascular system Abnormality of the musculoskeletal system Abnormality of limbs Growth abnormality Abnormality of the cardiovascular system Abnormality of the musculoskeletal system Abnormality of limbs Growth abnormality Abnormality of the cardiovascular system Abnormality of the musculoskeletal system Abnormality of limbs Growth abnormality Abnormality of the cardiovascular system Abnormality of the musculoskeletal system Abnormality of limbs Growth abnormality Abnormality of the cardiovascular system Abnormality of the musculoskeletal system Abnormality of limbs Growth abnormality Abnormality of the cardiovascular system Abnormality of the musculoskeletal system Abnormality of limbs Growth abnormality Abnormality of the cardiovascular system Abnormality of the musculoskeletal system Abnormality of limbs Growth abnormality Abnormality of the cardiovascular sAbnormality of the cardiovascular system Abnormality of the musculoskeletal Abnormality of the musculoskeletal system Abnormality of limbsAbnormality of limbs Growth abnormalityGrowth abnormality 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]
Show HP:0000822 Hypertension "High blood pressure." [HPO:curators]
Show HP:0001156 Brachydactyly
Show 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]
Show HP:0009803 Hypoplastic/small phalanges of the hand
Show HP:0010049 Hypoplastic/short metacarpal bones
Show HP:0010579 Cone-shaped epiphyses
Show
Interacting proteins (from Reactome )No match
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