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PDE8B phosphodiesterase 8B [ Homo sapiens (human) ]

Gene ID: 8622, updated on 8-Dec-2018

Summary

Official Symbol
PDE8Bprovided by HGNC
Official Full Name
phosphodiesterase 8Bprovided by HGNC
Primary source
HGNC:HGNC:8794
See related
Ensembl:ENSG00000113231 Ensembl:ENSG00000284762 MIM:603390
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ADSD; PPNAD3
Summary
The protein encoded by this gene is a cyclic nucleotide phosphodiesterase (PDE) that catalyzes the hydrolysis of the second messenger cAMP. The encoded protein, which does not hydrolyze cGMP, is resistant to several PDE inhibitors. Defects in this gene are a cause of autosomal dominant striatal degeneration (ADSD). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]
Expression
Biased expression in thyroid (RPKM 82.4), brain (RPKM 15.1) and 5 other tissues See more
Orthologs

Genomic context

See PDE8B in Genome Data Viewer
Location:
5q13.3
Exon count:
25
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (77180252..77428256)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (76476082..76724081)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ZBED3 antisense RNA 1 Neighboring gene small nucleolar RNA, H/ACA box 47 Neighboring gene zinc finger BED-type containing 3 Neighboring gene high mobility group box 1 pseudogene 35 Neighboring gene aldehyde dehydrogenase 7 family member A1 pseudogene 1 Neighboring gene WD repeat domain 41 Neighboring gene ribosomal protein S2 pseudogene 24 Neighboring gene ribosomal protein L7 pseudogene 23

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Pigmented nodular adrenocortical disease, primary, 3
MedGen: C3280094 OMIM: 614190 GeneReviews: Not available
Compare labs
Striatal degeneration, autosomal dominant 1
MedGen: C4310808 OMIM: 609161 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
NHGRI GWA Catalog
Discovery and replication of dopamine-related gene effects on caudate volume in young and elderly populations (N=1198) using genome-wide search.
NHGRI GWA Catalog
Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network.
NHGRI GWA Catalog
Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function.
NHGRI GWA Catalog
Novel associations for hypothyroidism include known autoimmune risk loci.
NHGRI GWA Catalog
Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function.
NHGRI GWA Catalog

Pathways from BioSystems

  • G Protein Signaling Pathways, organism-specific biosystem (from WikiPathways)
    G Protein Signaling Pathways, organism-specific biosystemG proteins, short for guanine nucleotide-binding proteins, are a family of proteins involved in second messenger cascades. G proteins are so called because they function as "molecular switches". They...
  • G alpha (s) signalling events, organism-specific biosystem (from REACTOME)
    G alpha (s) signalling events, organism-specific biosystemThe general function of the G alpha (s) subunit (Gs) is to activate adenylate cyclase, which in turn produces cAMP, leading to the activation of cAMP-dependent protein kinases (often referred to col...
  • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
    GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
  • Morphine addiction, organism-specific biosystem (from KEGG)
    Morphine addiction, organism-specific biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
  • Morphine addiction, conserved biosystem (from KEGG)
    Morphine addiction, conserved biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
  • Purine metabolism, organism-specific biosystem (from KEGG)
    Purine metabolism, organism-specific biosystem
    Purine metabolism
  • Purine metabolism, conserved biosystem (from KEGG)
    Purine metabolism, conserved biosystem
    Purine metabolism
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11212

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3',5'-cyclic-AMP phosphodiesterase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
3',5'-cyclic-AMP phosphodiesterase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
3',5'-cyclic-AMP phosphodiesterase activity TAS
Traceable Author Statement
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
cAMP catabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B
Names
3',5' cyclic nucleotide phosphodiesterase 8B
cell proliferation-inducing gene 22 protein
NP_001025022.1
NP_001025023.1
NP_001025024.1
NP_001025025.1
NP_001336677.1
NP_001336678.1
NP_001336679.1
NP_001336680.1
NP_001336681.1
NP_001336682.1
NP_003710.1
XP_005248680.1
XP_006714789.1
XP_011542001.1
XP_011542002.1
XP_011542006.1
XP_016865494.1
XP_016865496.1
XP_016865497.1
XP_024302021.1
XP_024302022.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_023364.2 RefSeqGene

    Range
    35630..253005
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001029851.2NP_001025022.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 3

    See identical proteins and their annotated locations for NP_001025022.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), also known as PDE8B2, lacks alternate in-frame exons compared to variant 1. The encoded isoform (3) is shorter compared to isoform 1.
    Source sequence(s)
    AB085825, AC010234, AC022422, AF079529, AK023913
    Consensus CDS
    CCDS34192.1
    UniProtKB/Swiss-Prot
    O95263
    UniProtKB/TrEMBL
    B3KN77
    Related
    ENSP00000330428.3, ENST00000346042.7
    Conserved Domains (3) summary
    PHA02597
    Location:158311
    30.2; hypothetical protein; Provisional
    pfam00233
    Location:517764
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam08629
    Location:147
    PDE8; PDE8 phosphodiesterase
  2. NM_001029852.2NP_001025023.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 5

    See identical proteins and their annotated locations for NP_001025023.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), also known as PDE8B3, lacks an alternate in-frame exon compared to variant 1. The encoded isoform (5) is shorter compared to isoform 1.
    Source sequence(s)
    AB085826, AC010234, AC022422, AF079529, AK023913
    Consensus CDS
    CCDS34190.1
    UniProtKB/Swiss-Prot
    O95263
    UniProtKB/TrEMBL
    B3KN77
    Related
    ENSP00000331336.4, ENST00000333194.8
    Conserved Domains (4) summary
    cd00130
    Location:284376
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00233
    Location:559806
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam08629
    Location:147
    PDE8; PDE8 phosphodiesterase
    pfam13426
    Location:279377
    PAS_9; PAS domain
  3. NM_001029853.2NP_001025024.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 4

    See identical proteins and their annotated locations for NP_001025024.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 1. The encoded isoform (4) is shorter compared to isoform 1.
    Source sequence(s)
    AB085827, AC010234, AC022422, AF079529, AK023913
    Consensus CDS
    CCDS34193.1
    UniProtKB/Swiss-Prot
    O95263
    UniProtKB/TrEMBL
    B3KN77
    Related
    ENSP00000345646.4, ENST00000342343.8
    Conserved Domains (4) summary
    cd00130
    Location:264356
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00233
    Location:594841
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam08629
    Location:147
    PDE8; PDE8 phosphodiesterase
    pfam13426
    Location:259357
    PAS_9; PAS domain
  4. NM_001029854.2NP_001025025.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 2

    See identical proteins and their annotated locations for NP_001025025.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The encoded isoform (2) is shorter compared to isoform 1.
    Source sequence(s)
    AC010234, AC022422, AK023913, AY129948
    Consensus CDS
    CCDS34191.1
    UniProtKB/Swiss-Prot
    O95263
    UniProtKB/TrEMBL
    B3KN77
    Related
    ENSP00000345446.3, ENST00000340978.7
    Conserved Domains (2) summary
    pfam00233
    Location:567814
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam08629
    Location:147
    PDE8; PDE8 phosphodiesterase
  5. NM_001349748.1NP_001336677.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (6) is one aa shorter compared to isoform 1.
    Source sequence(s)
    AB085824, AC010234, AC022422, AK023913, BC035144, BX101253, DR005186
    Conserved Domains (3) summary
    pfam08629
    Location:147
    PDE8; PDE8 phosphodiesterase
    pfam00233
    Location:613860
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam13426
    Location:279376
    PAS_9; PAS domain
  6. NM_001349749.1NP_001336678.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) contains an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (7) is longer than isoform 1.
    Source sequence(s)
    AB085824, AC010234, AC022414, AC022422, AF079529, AK023913, BC035144, BX101253
    Conserved Domains (3) summary
    pfam08629
    Location:147
    PDE8; PDE8 phosphodiesterase
    pfam00233
    Location:635882
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam13426
    Location:301398
    PAS_9; PAS domain
  7. NM_001349750.1NP_001336679.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at an alternate start codon, compared to variant 1. The encoded isoform (8) has a shorter and distinct N-terminus, compared to isoform 1
    Source sequence(s)
    AB085824, AC010234, AC022414, AC022422, AK023913, BC035144, BX101253, HY175067
    Conserved Domains (2) summary
    pfam00233
    Location:534781
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam13426
    Location:200297
    PAS_9; PAS domain
  8. NM_001349751.1NP_001336680.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 9

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) uses an alternate in-frame splice site in the 5' coding region and lacks an alternate exon in the 3' coding region, which results in a frameshift, an early stop codon, and longer 3' UTR, compared to variant 1. The encoded isoform (9) lacks an internal aa and has a shorter and distinct C-terminus, compared to isoform 1
    Source sequence(s)
    AB085824, AC010234, AC022422, AK023913, BC035144, BX101253, DR005186
    Conserved Domains (3) summary
    pfam08629
    Location:147
    PDE8; PDE8 phosphodiesterase
    pfam00233
    Location:613805
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam13426
    Location:279376
    PAS_9; PAS domain
  9. NM_001349752.1NP_001336681.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 10

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) contains a distinct 5' terminal exon, and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (10) has a shorter and distinct N-terminus, and lacks an internal aa, compared to isoform 1
    Source sequence(s)
    AB085824, AC010234, AC022422, AK023913, BC035144, BX101253, HY158697, HY175067
    Conserved Domains (2) summary
    pfam00233
    Location:512759
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam13426
    Location:178275
    PAS_9; PAS domain
  10. NM_001349753.1NP_001336682.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 11

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) differs in the 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (11) has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AB085824, AC010234, AC022414, AC022422, AK023913, BC035144, BX101253, DR005186
    Consensus CDS
    CCDS87307.1
    Conserved Domains (2) summary
    pfam00233
    Location:490737
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam13426
    Location:156253
    PAS_9; PAS domain
  11. NM_003719.3NP_003710.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 1

    See identical proteins and their annotated locations for NP_003710.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB085824, AC010234, AC022422, AF079529, AK023913
    Consensus CDS
    CCDS4037.1
    UniProtKB/Swiss-Prot
    O95263
    UniProtKB/TrEMBL
    B3KN77
    Related
    ENSP00000264917.5, ENST00000264917.9
    Conserved Domains (4) summary
    cd00130
    Location:284376
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00233
    Location:614861
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam08629
    Location:147
    PDE8; PDE8 phosphodiesterase
    pfam13426
    Location:279377
    PAS_9; PAS domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    77180252..77428256
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248623.4XP_005248680.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform X5

    See identical proteins and their annotated locations for XP_005248680.1

    Conserved Domains (3) summary
    cd00130
    Location:183275
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00233
    Location:513760
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam13426
    Location:178276
    PAS_9; PAS domain
  2. XM_017010007.2XP_016865496.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform X7

  3. XM_017010008.2XP_016865497.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform X8

  4. XM_024446253.1XP_024302021.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform X6

    Related
    ENSP00000493971.1, ENST00000646262.1
    Conserved Domains (2) summary
    pfam00233
    Location:490737
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam13426
    Location:156253
    PAS_9; PAS domain
  5. XM_024446254.1XP_024302022.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform X9

    Conserved Domains (2) summary
    PHA02597
    Location:34187
    30.2; hypothetical protein; Provisional
    pfam00233
    Location:393640
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  6. XM_011543699.3XP_011542001.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform X2

    Conserved Domains (4) summary
    cd00130
    Location:305397
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00233
    Location:635827
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam08629
    Location:147
    PDE8; PDE8 phosphodiesterase
    pfam13426
    Location:300398
    PAS_9; PAS domain
  7. XM_011543700.3XP_011542002.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform X3

    Conserved Domains (3) summary
    PHA02597
    Location:179332
    30.2; hypothetical protein; Provisional
    pfam00233
    Location:538785
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam08629
    Location:147
    PDE8; PDE8 phosphodiesterase
  8. XM_017010005.2XP_016865494.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform X4

  9. XM_006714726.3XP_006714789.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform X1

    Conserved Domains (4) summary
    cd00130
    Location:304396
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00233
    Location:634881
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam08629
    Location:147
    PDE8; PDE8 phosphodiesterase
    pfam13426
    Location:299397
    PAS_9; PAS domain
  10. XM_011543704.2XP_011542006.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform X10

    See identical proteins and their annotated locations for XP_011542006.1

    Conserved Domains (3) summary
    cd00130
    Location:46138
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00233
    Location:376623
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam13426
    Location:41139
    PAS_9; PAS domain
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