This gene encodes an enzyme that belongs to the 3'5'-cyclic nucleotide phosphodiesterase family. Members of this family catalyze hydrolysis of the cyclic nucleotides, cyclic adenosine monophosphate and cyclic guanosine monophosphate, to the corresponding nucleoside 5'-monophosphates. The enzyme encoded by this gene regulates proliferation and migration of vascular smooth muscle... See more...

Aliases for PDE1C Gene

Aliases for PDE1C Gene

  • Phosphodiesterase 1C 2 3 5
  • Hcam3 2 3 4
  • Calcium/Calmodulin-Dependent 3',5'-Cyclic Nucleotide Phosphodiesterase 1C 3 4
  • Phosphodiesterase 1C, Calmodulin-Dependent 70kDa 2 3
  • 3',5'-Cyclic-AMP Phosphodiesterase 3 4
  • 3',5'-Cyclic-GMP Phosphodiesterase 3 4
  • Cam-PDE 1C 3 4
  • Human 3',5' Cyclic Nucleotide Phosphodiesterase (HSPDE1C1A) 3
  • Phosphodiesterase 1C, Calmodulin-Dependent (70kD) 2
  • EC 3.1.4.17 50
  • EC 3.1.4.35 4
  • EC 3.1.4.- 4
  • EC 3.1.4 50
  • DFNA74 3
  • HCam-3 3
  • PDE1C 5

External Ids for PDE1C Gene

Previous GeneCards Identifiers for PDE1C Gene

  • GC07M031435
  • GC07M031534
  • GC07M031565
  • GC07M031759

Summaries for PDE1C Gene

Entrez Gene Summary for PDE1C Gene

  • This gene encodes an enzyme that belongs to the 3'5'-cyclic nucleotide phosphodiesterase family. Members of this family catalyze hydrolysis of the cyclic nucleotides, cyclic adenosine monophosphate and cyclic guanosine monophosphate, to the corresponding nucleoside 5'-monophosphates. The enzyme encoded by this gene regulates proliferation and migration of vascular smooth muscle cells, and neointimal hyperplasia. This enzyme also plays a role in pathological vascular remodeling by regulating the stability of growth factor receptors, such as PDGF-receptor-beta. [provided by RefSeq, Jul 2016]

GeneCards Summary for PDE1C Gene

PDE1C (Phosphodiesterase 1C) is a Protein Coding gene. Diseases associated with PDE1C include Deafness, Autosomal Dominant 74 and Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna. Among its related pathways are Signaling by GPCR and Sweet Taste Signaling. Gene Ontology (GO) annotations related to this gene include calmodulin binding and calmodulin-dependent cyclic-nucleotide phosphodiesterase activity. An important paralog of this gene is PDE1A.

UniProtKB/Swiss-Prot Summary for PDE1C Gene

  • Calmodulin-dependent cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes (PubMed:8557689, PubMed:29860631). Has a high affinity for both cAMP and cGMP (PubMed:8557689). Modulates the amplitude and duration of the cAMP signal in sensory cilia in response to odorant stimulation, hence contributing to the generation of action potentials. Regulates smooth muscle cell proliferation. Regulates the stability of growth factor receptors, including PDGFRB (Probable).

Gene Wiki entry for PDE1C Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PDE1C Gene

Genomics for PDE1C Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PDE1C Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J032427 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 250.7 +0.3 284 0.6 MXD4 REST KLF11 HOMEZ CTCF SIN3A KMT2B THAP11 SMAD4 ZNF511 PDE1C ENSG00000226468 piR-38756-021 ENSG00000284839 HSALNG0057077 PPP1R17
GH07J032068 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE dbSUPER 258.2 +358.2 358223 4 SIN3A HDAC2 EZH2 PDE1C lnc-LSM5-3 piR-48749-042 PPP1R17
GH07J032250 Enhancer 0.4 FANTOM5 Ensembl 42.7 +177.5 177523 1 PDE1C piR-61101-609 piR-56397 PPP1R17
GH07J032297 Enhancer 0.3 FANTOM5 43.5 +130.4 130380 0.1 CTCF PDE1C piR-46002-520 piR-61101-609 PPP1R17
GH07J032093 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 10 +335.0 335024 2.4 JUND NFE2 RFX1 NFE2L2 MAFK EP300 FOS CEBPB PDE1C MN298114-225 piR-57176-584 PPP1R17
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PDE1C on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PDE1C

Top Transcription factor binding sites by QIAGEN in the PDE1C gene promoter:
  • AP-4
  • C/EBPalpha
  • E47
  • FOXC1
  • HEN1
  • HNF-3beta
  • LCR-F1
  • NCX
  • Nkx2-5
  • RFX1

Genomic Locations for PDE1C Gene

Latest Assembly
chr7:31,616,777-32,428,224
(GRCh38/hg38)
Size:
811,448 bases
Orientation:
Minus strand

Previous Assembly
chr7:31,790,793-32,467,836
(GRCh37/hg19 by Entrez Gene)
Size:
677,044 bases
Orientation:
Minus strand

chr7:31,790,793-32,338,941
(GRCh37/hg19 by Ensembl)
Size:
548,149 bases
Orientation:
Minus strand

Genomic View for PDE1C Gene

Genes around PDE1C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDE1C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDE1C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDE1C Gene

Proteins for PDE1C Gene

  • Protein details for PDE1C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14123-PDE1C_HUMAN
    Recommended name:
    Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C
    Protein Accession:
    Q14123
    Secondary Accessions:
    • B3KPC6
    • E9PE92
    • Q14124
    • Q8NB10

    Protein attributes for PDE1C Gene

    Size:
    709 amino acids
    Molecular mass:
    80760 Da
    Cofactor:
    Name=a divalent metal cation; Xref=ChEBI:CHEBI:60240;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for PDE1C Gene

    Alternative splice isoforms for PDE1C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PDE1C Gene

Selected DME Specific Peptides for PDE1C Gene

Q14123:
  • HAADVTQ
  • SVLENHH
  • LYNDRSVLENHH
  • IHDYEHTG
  • LKKNLEY
  • LISRFKIP
  • MKTALQQ
  • TNNFHIQ
  • LHHRWTM
  • VYIDETR
  • EEFFRQGD
  • SIVHAVQAGIFVERM
  • LDTEDEL
  • LVKQLERG
  • ATDMSCHFQQ

Post-translational modifications for PDE1C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Protein products for research

  • Abcam proteins for PDE1C

Domains & Families for PDE1C Gene

Gene Families for PDE1C Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PDE1C Gene

GenScript: Design optimal peptide antigens:
  • hCam-3 (PDE1C_HUMAN)
  • PDE1C protein (Q8TAE4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14123

UniProtKB/Swiss-Prot:

PDE1C_HUMAN :
  • Belongs to the cyclic nucleotide phosphodiesterase family. PDE1 subfamily.
Family:
  • Belongs to the cyclic nucleotide phosphodiesterase family. PDE1 subfamily.
genes like me logo Genes that share domains with PDE1C: view

Function for PDE1C Gene

Molecular function for PDE1C Gene

UniProtKB/Swiss-Prot Function:
Calmodulin-dependent cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes (PubMed:8557689, PubMed:29860631). Has a high affinity for both cAMP and cGMP (PubMed:8557689). Modulates the amplitude and duration of the cAMP signal in sensory cilia in response to odorant stimulation, hence contributing to the generation of action potentials. Regulates smooth muscle cell proliferation. Regulates the stability of growth factor receptors, including PDGFRB (Probable).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3',5'-cyclic GMP + H2O = GMP + H(+); Xref=Rhea:RHEA:16957, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57746, ChEBI:CHEBI:58115; EC=3.1.4.35; Evidence={ECO:0000269|PubMed:29860631, ECO:0000269|PubMed:8557689};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3',5'-cyclic AMP + H2O = AMP + H(+); Xref=Rhea:RHEA:25277, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:58165, ChEBI:CHEBI:456215; Evidence={ECO:0000269|PubMed:29860631, ECO:0000269|PubMed:8557689};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.3 uM for cAMP (isoform PDE1C2) {ECO:0000269|PubMed:8557689}; KM=0.6 uM for cGMP (isoform PDE1C2) {ECO:0000269|PubMed:8557689};
UniProtKB/Swiss-Prot EnzymeRegulation:
Type I PDE are activated by the binding of calmodulin in the presence of Ca(2+).

Enzyme Numbers (IUBMB) for PDE1C Gene

Phenotypes From GWAS Catalog for PDE1C Gene

Gene Ontology (GO) - Molecular Function for PDE1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004114 3',5'-cyclic-nucleotide phosphodiesterase activity IBA 21873635
GO:0004117 calmodulin-dependent cyclic-nucleotide phosphodiesterase activity TAS 8557689
GO:0005516 calmodulin binding IEA --
GO:0008081 phosphoric diester hydrolase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PDE1C: view

Phenotypes for PDE1C Gene

MGI mutant phenotypes for PDE1C:
inferred from 1 alleles
GenomeRNAi human phenotypes for PDE1C:
genes like me logo Genes that share phenotypes with PDE1C: view

Human Phenotype Ontology for PDE1C Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PDE1C Gene

MGI Knock Outs for PDE1C:

Animal Models for research

  • Taconic Biosciences Mouse Models for PDE1C

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDE1C

Clone products for research

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for PDE1C Gene

Localization for PDE1C Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PDE1C gene
Compartment Confidence
cytosol 5
nucleus 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PDE1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0043025 neuronal cell body IBA 21873635
genes like me logo Genes that share ontologies with PDE1C: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PDE1C Gene

Pathways & Interactions for PDE1C Gene

PathCards logo

SuperPathways for PDE1C Gene

genes like me logo Genes that share pathways with PDE1C: view

Pathways by source for PDE1C Gene

10 Qiagen pathways for PDE1C Gene
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR
  • Bitter Taste Signaling
  • cAMP Pathway

Gene Ontology (GO) - Biological Process for PDE1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IBA 21873635
genes like me logo Genes that share ontologies with PDE1C: view

No data available for SIGNOR curated interactions for PDE1C Gene

Drugs & Compounds for PDE1C Gene

(11) Drugs for PDE1C Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Caffeine Approved Pharma Target, inhibitor 658
Water Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
Trapidil Experimental Pharma Target, inhibitor 1
cyclic amp Experimental Pharma 0

(2) Additional Compounds for PDE1C Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for PDE1C Gene

Compound Action Cas Number
Vinpocetine PDE inhibitor 42971-09-5
genes like me logo Genes that share compounds with PDE1C: view

Drug products for research

Transcripts for PDE1C Gene

mRNA/cDNA for PDE1C Gene

10 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDE1C

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for PDE1C Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^
SP1: - - - - - - - -
SP2: -
SP3: -
SP4:
SP5: -
SP6:

ExUns: 23 ^ 24 ^ 25
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for PDE1C Gene

GeneLoc Exon Structure for
PDE1C

Expression for PDE1C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PDE1C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PDE1C Gene

This gene is overexpressed in Heart - Left Ventricle (x7.7).

Protein differential expression in normal tissues from HIPED for PDE1C Gene

This gene is overexpressed in Bone (38.1) and Frontal cortex (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PDE1C Gene



Protein tissue co-expression partners for PDE1C Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PDE1C

SOURCE GeneReport for Unigene cluster for PDE1C Gene:

Hs.728862

mRNA Expression by UniProt/SwissProt for PDE1C Gene:

Q14123-PDE1C_HUMAN
Tissue specificity: Isoform PDE1C2 is present in the heart and brain and, at lower levels in the lung, liver, kidney and skeletal muscle (PubMed:8557689). Isoform PDE1C1 is expressed in the heart and brain and, at lower levels in lung (PubMed:8557689). Also expressed at low levels in uterus and testis (PubMed:8557689).

Evidence on tissue expression from TISSUES for PDE1C Gene

  • Heart(4.6)
  • Nervous system(3.7)
  • Muscle(2.7)
genes like me logo Genes that share expression patterns with PDE1C: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PDE1C Gene

Orthologs for PDE1C Gene

This gene was present in the common ancestor of animals.

Orthologs for PDE1C Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PDE1C 29 30
  • 99.44 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PDE1C 29 30
  • 91.55 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PDE1C 29 30
  • 91.24 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PDE1C 30
  • 91 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PDE1C 30
  • 90 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pde1c 29
  • 88.54 (n)
Mouse
(Mus musculus)
Mammalia Pde1c 29 16 30
  • 88.17 (n)
OneToOne
Chicken
(Gallus gallus)
Aves PDE1C 29 30
  • 75.62 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PDE1C 30
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pde1c 29
  • 71.02 (n)
Str.17555 29
Zebrafish
(Danio rerio)
Actinopterygii PDE1C (1 of 2) 30
  • 81 (a)
OneToMany
PDE1C (2 of 2) 30
  • 53 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG14940 31
  • 57 (a)
Pde1c 30
  • 24 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea T04D3.3 31
  • 55 (a)
pde-1 29 30
  • 54.51 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 50 (a)
OneToMany
Species where no ortholog for PDE1C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PDE1C Gene

ENSEMBL:
Gene Tree for PDE1C (if available)
TreeFam:
Gene Tree for PDE1C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PDE1C: view image
Alliance of Genome Resources:
Additional Orthologs for PDE1C

Paralogs for PDE1C Gene

(8) SIMAP similar genes for PDE1C Gene using alignment to 5 proteins:

  • PDE1C_HUMAN
  • F8W905_HUMAN
  • Q75MP2_HUMAN
  • Q75MW3_HUMAN
  • Q8TAE4_HUMAN
genes like me logo Genes that share paralogs with PDE1C: view

Variants for PDE1C Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PDE1C Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs115957738 Benign: not provided 31,879,055(-) G/A
NM_001191057.4(PDE1C):c.366C>T (p.Asp122=)
SYNONYMOUS
rs141060048 Likely Benign: not provided 31,809,056(-) G/A
NM_001191057.4(PDE1C):c.1866C>T (p.Ile622=)
SYNONYMOUS
rs148606596 Benign: not provided 31,753,535(-) C/T
NM_001191057.4(PDE1C):c.1979G>A (p.Arg660His)
MISSENSE
rs181999335 Likely Benign: not provided 32,169,933(-) A/T
NM_001322059.1(PDE1C):c.385T>A (p.Trp129Arg)
MISSENSE
rs192039751 Likely Benign: not provided 31,775,720(-) C/T
NM_001191057.4(PDE1C):c.1904G>A (p.Arg635His)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PDE1C Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PDE1C Gene

Variant ID Type Subtype PubMed ID
dgv11269n54 CNV gain 21841781
dgv6318n100 CNV gain 25217958
esv1014975 CNV deletion 17803354
esv1399325 CNV insertion 17803354
esv2105969 CNV deletion 18987734
esv2225343 CNV deletion 18987734
esv2271605 CNV deletion 18987734
esv2428975 CNV insertion 19546169
esv2513864 CNV deletion 19546169
esv2608247 CNV deletion 19546169
esv2665337 CNV deletion 23128226
esv2670779 CNV deletion 23128226
esv2677609 CNV deletion 23128226
esv2678586 CNV deletion 23128226
esv2734209 CNV deletion 23290073
esv2734210 CNV deletion 23290073
esv2734211 CNV deletion 23290073
esv2734212 CNV deletion 23290073
esv2734213 CNV deletion 23290073
esv2734214 CNV deletion 23290073
esv2734215 CNV deletion 23290073
esv2752156 CNV gain 17911159
esv2761317 CNV loss 21179565
esv3307668 CNV mobile element insertion 20981092
esv33248 CNV gain 17666407
esv3325280 CNV insertion 20981092
esv3351023 CNV insertion 20981092
esv3402198 CNV insertion 20981092
esv3412909 CNV duplication 20981092
esv3414 CNV loss 18987735
esv3541432 CNV deletion 23714750
esv3541434 CNV deletion 23714750
esv3612723 CNV gain 21293372
esv3612727 CNV loss 21293372
esv3612730 CNV loss 21293372
esv3612731 CNV loss 21293372
esv3612732 CNV loss 21293372
esv3612734 CNV loss 21293372
esv6080 CNV loss 19470904
esv6756 CNV gain 19470904
nsv1068321 OTHER inversion 25765185
nsv1137207 CNV deletion 24896259
nsv1148830 OTHER inversion 26484159
nsv436557 CNV deletion 17901297
nsv464420 CNV loss 19166990
nsv464421 CNV gain 19166990
nsv476359 CNV novel sequence insertion 20440878
nsv512909 CNV insertion 21212237
nsv523567 CNV gain 19592680
nsv527840 CNV loss 19592680
nsv528955 CNV loss 19592680
nsv5688 CNV insertion 18451855
nsv5689 CNV insertion 18451855
nsv606589 CNV loss 21841781
nsv606590 CNV loss 21841781
nsv824052 CNV loss 20364138
nsv824053 CNV loss 20364138
nsv824055 CNV loss 20364138

Variation tolerance for PDE1C Gene

Residual Variation Intolerance Score: 49% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.39; 54.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PDE1C Gene

Human Gene Mutation Database (HGMD)
PDE1C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDE1C
Leiden Open Variation Database (LOVD)
PDE1C

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDE1C Gene

Disorders for PDE1C Gene

MalaCards: The human disease database

(3) MalaCards diseases for PDE1C Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
deafness, autosomal dominant 74
  • dfna74
autosomal dominant non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
deafness, autosomal dominant 41
  • dfna41
- elite association - COSMIC cancer census association via MalaCards
Search PDE1C in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PDE1C_HUMAN
  • Deafness, autosomal dominant, 74 (DFNA74) [MIM:618140]: A form of non-syndromic deafness characterized by progressive, postlingual hearing loss with onset in the third decade of life. {ECO:0000269 PubMed:29860631}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for PDE1C

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PDE1C: view

No data available for Genatlas for PDE1C Gene

Publications for PDE1C Gene

  1. A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss. (PMID: 29860631) Wang L … Liu X (Human genetics 2018) 3 4 72
  2. Isolation and characterization of cDNAs corresponding to two human calcium, calmodulin-regulated, 3',5'-cyclic nucleotide phosphodiesterases. (PMID: 8557689) Loughney K … Ferguson K (The Journal of biological chemistry 1996) 2 3 4
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 40
  5. Subcellular localization and regulation of type-1C and type-5 phosphodiesterases. (PMID: 16455054) Dolci S … Jannini EA (Biochemical and biophysical research communications 2006) 3 22

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