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PDE8B phosphodiesterase 8B [ Homo sapiens (human) ]

Gene ID: 8622, updated on 8-May-2016
Official Symbol
PDE8Bprovided by HGNC
Official Full Name
phosphodiesterase 8Bprovided by HGNC
Primary source
HGNC:HGNC:8794
See related
Ensembl:ENSG00000113231 HPRD:04546; MIM:603390; Vega:OTTHUMG00000102170
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]
Orthologs
Location:
5q13.3
Exon count:
26
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 5 NC_000005.10 (77180262..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 uncharacterized LOC105379044 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Pigmented nodular adrenocortical disease, primary, 3
MedGen: C3280094 OMIM: 614190 GeneReviews: Not available
Compare labs
Striatal degeneration, autosomal dominant
MedGen: C1836694 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
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ11212

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3',5'-cyclic-AMP phosphodiesterase activity TAS
Traceable Author Statement
more info
 
3',5'-cyclic-nucleotide phosphodiesterase activity NAS
Non-traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cAMP catabolic process IEA
Inferred from Electronic Annotation
more info
 
cyclic nucleotide metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of insulin secretion IEA
Inferred from Electronic Annotation
more info
 
signal transduction 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
 
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
hsPDE8B
NP_001025022.1
NP_001025023.1
NP_001025024.1
NP_001025025.1
NP_003710.1

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_023364.1 RefSeqGene

    Range
    5001..222376
    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, OTTHUMP00000222107, ENST00000346042, OTTHUMT00000369112
    Conserved Domains (3) summary
    pfam08629
    Location:152
    PDE8; PDE8 phosphodiesterase
    cd00077
    Location:517707
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
    pfam00072
    Location:135252
    Response_reg; Response regulator receiver domain
  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, OTTHUMP00000222109, ENST00000333194, OTTHUMT00000369114
    Conserved Domains (5) summary
    pfam08629
    Location:152
    PDE8; PDE8 phosphodiesterase
    cd00077
    Location:559749
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
    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 ...
    pfam00072
    Location:135252
    Response_reg; Response regulator receiver domain
    pfam13426
    Location:279375
    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, OTTHUMP00000222108, ENST00000342343, OTTHUMT00000369113
    Conserved Domains (5) summary
    pfam08629
    Location:152
    PDE8; PDE8 phosphodiesterase
    cd00077
    Location:594784
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
    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 ...
    pfam00072
    Location:115232
    Response_reg; Response regulator receiver domain
    pfam13426
    Location:259355
    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, OTTHUMP00000222106, ENST00000340978, OTTHUMT00000369111
    Conserved Domains (3) summary
    pfam08629
    Location:152
    PDE8; PDE8 phosphodiesterase
    cd00077
    Location:567757
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
    pfam00072
    Location:135252
    Response_reg; Response regulator receiver domain
  5. 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, OTTHUMP00000128363, ENST00000264917, OTTHUMT00000220015
    Conserved Domains (5) summary
    pfam08629
    Location:152
    PDE8; PDE8 phosphodiesterase
    cd00077
    Location:614804
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
    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 ...
    pfam00072
    Location:135252
    Response_reg; Response regulator receiver domain
    pfam13426
    Location:279375
    PAS_9; PAS domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p2 Primary Assembly

    Range
    77180262..77428256
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248623.3XP_005248680.1  

    See identical proteins and their annotated locations for XP_005248680.1

    Conserved Domains (4) summary
    cd00077
    Location:513703
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
    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 ...
    pfam00072
    Location:34151
    Response_reg; Response regulator receiver domain
    pfam13426
    Location:178274
    PAS_9; PAS domain
  2. XM_005248624.3XP_005248681.1  

    Conserved Domains (4) summary
    cd00077
    Location:512702
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
    cd00130
    Location:182274
    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 ...
    pfam00072
    Location:33150
    Response_reg; Response regulator receiver domain
    pfam13426
    Location:177273
    PAS_9; PAS domain
  3. XM_011543701.1XP_011542003.1  

    Conserved Domains (4) summary
    cd00077
    Location:534724
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
    cd00130
    Location:204296
    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 ...
    pfam00072
    Location:55172
    Response_reg; Response regulator receiver domain
    pfam13426
    Location:199295
    PAS_9; PAS domain
  4. XM_011543699.1XP_011542001.1  

    Conserved Domains (5) summary
    pfam08629
    Location:152
    PDE8; PDE8 phosphodiesterase
    cd00077
    Location:635825
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
    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 ...
    pfam00072
    Location:156273
    Response_reg; Response regulator receiver domain
    pfam13426
    Location:300396
    PAS_9; PAS domain
  5. XM_011543700.1XP_011542002.1  

    Conserved Domains (3) summary
    pfam08629
    Location:152
    PDE8; PDE8 phosphodiesterase
    cd00077
    Location:538728
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
    pfam00072
    Location:156273
    Response_reg; Response regulator receiver domain
  6. XM_006714725.2XP_006714788.1  

    Conserved Domains (5) summary
    pfam08629
    Location:152
    PDE8; PDE8 phosphodiesterase
    cd00077
    Location:635825
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
    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 ...
    pfam00072
    Location:156273
    Response_reg; Response regulator receiver domain
    pfam13426
    Location:300396
    PAS_9; PAS domain
  7. XM_006714726.2XP_006714789.1  

    Conserved Domains (5) summary
    pfam08629
    Location:152
    PDE8; PDE8 phosphodiesterase
    cd00077
    Location:634824
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
    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 ...
    pfam00072
    Location:155272
    Response_reg; Response regulator receiver domain
    pfam13426
    Location:299395
    PAS_9; PAS domain
  8. XM_005248621.3XP_005248678.1  

    Conserved Domains (5) summary
    pfam08629
    Location:152
    PDE8; PDE8 phosphodiesterase
    cd00077
    Location:613803
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
    cd00130
    Location:283375
    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 ...
    pfam00072
    Location:134251
    Response_reg; Response regulator receiver domain
    pfam13426
    Location:278374
    PAS_9; PAS domain
  9. XM_011543702.1XP_011542004.1  

    Conserved Domains (4) summary
    cd00077
    Location:503693
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
    cd00130
    Location:173265
    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 ...
    pfam00072
    Location:24141
    Response_reg; Response regulator receiver domain
    pfam13426
    Location:168264
    PAS_9; PAS domain
  10. XM_011543703.1XP_011542005.1  

    Conserved Domains (4) summary
    cd00077
    Location:509699
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
    cd00130
    Location:179271
    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 ...
    pfam00072
    Location:30147
    Response_reg; Response regulator receiver domain
    pfam13426
    Location:174270
    PAS_9; PAS domain
  11. XM_011543704.1XP_011542006.1  

    See identical proteins and their annotated locations for XP_011542006.1

    Conserved Domains (3) summary
    cd00077
    Location:376566
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
    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 ...
    pfam13426
    Location:41137
    PAS_9; PAS domain

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 Alternate CHM1_1.1

    Range
    75940448..76157815
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)