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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PDE8B Gene

protein-coding GIFtS: 64
GCID: GC05P076542

phosphodiesterase 8B

Explore 14 diseases affiliated with
PDE8B via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Phosphodiesterase 8B¹ ²		3',5' Cyclic Nucleotide Phosphodiesterase 8B²
Cell Proliferation-Inducing Gene 22 Protein² ³		High Affinity CAMP-Specific And IBMX-Insensitive 3',5'-Cyclic Phosphodiesterase 8B²
EC 3.1.4.17³ ⁸		HsPDE8B³
ADSD² ⁵		HsPDE8B³
PPNAD3² ⁵

External Ids:	HGNC: 8794¹	Entrez Gene: 8622²	Ensembl: ENSG00000113231⁷	OMIM: 603390⁵	UniProtKB: O95263³

Export aliases for PDE8B gene to outside databases

Previous GC identifers: GC05P075312 GC05P076741 GC05P076545 GC05P076590 GC05P071714

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PDE8B:

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)

UniProtKB/Swiss-Prot: PDE8B_HUMAN, O95263

Function: Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. May

be involved in specific signaling in the thyroid gland

summary for PDE8B:

Phosphodiesterases (PDEs) are a family of related phosphohydrolyases that selectively catalyze the

hydrolysis of 3' cyclic phosphate bonds in adenosine and/or guanine 3',5' cyclic monophosphate (cAMP and/or

cGMP). They regulate the cellular levels, localization and duration of action of these second messengers by

controlling the rate of their degradation. There are 11 subtypes of PDEs, named PDE1-11; PDE4, 7 and 8

selectively degrade cAMP, PDE5, 6 and 9 selectively degrade cGMP and PDE1, 2, 3, 10 and 11 degrade both

cyclic nucleotides. PDEs are expressed ubiquitously, with each subtype having a specific tissue

distribution. These enzymes are involved in many signal transduction pathways and their functions include

vascular smooth muscle proliferation and contraction, cardiac contractility, platelet aggregation, hormone

secretion, immune cell activation, and they are involved in learning and memory.

Gene Wiki entry for PDE8B

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000005.9 NC_018916.1 NT_006713.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PDE8B gene promoter:
C/EBPbeta FOXF2 Evi-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PDE8B promoter sequence

Search SABiosciences Chromatin IP Primers for PDE8B

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PDE8B

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q13.3 Ensembl cytogenetic band: 5q13.3 HGNC cytogenetic band: 5q14.1

PDE8B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PDE8B gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05P076542: view genomic region (about GC identifiers)

Start:	76,506,274 bp from pter	End:	76,725,632 bp from pter
Size:	219,359 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PDE8B_HUMAN, O95263 (See protein sequence)

Recommended Name: High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B

Size: 885 amino acids; 98979 Da

Cofactor: Binds 2 divalent metal cations per subunit. Site 1 may preferentially bind zinc ions, while site 2 has a

preference for magnesium and/or manganese ions (By similarity)

Secondary accessions: Q5J7V7 Q86XK8 Q8IUJ7 Q8IUJ8 Q8IUJ9 Q8IUK0 Q8N3T2

Alternative splicing: 6 isoforms: O95263-1 O95263-2 O95263-3 O95263-4 O95263-5 O95263-6 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PDE8B: NX_O95263

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O95263

2 DME Specific Peptides for PDE8B (O95263)

HDVDHPG

IDMVLAT

PDE8B Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (5 alternative transcripts):

NP_001025022.1 NP_001025023.1 NP_001025024.1 NP_001025025.1 NP_003710.1

ENSEMBL proteins:

ENSP00000425720 ENSP00000345446 ENSP00000330428 ENSP00000264917 ENSP00000345646

ENSP00000331336 ENSP00000426200 ENSP00000422861 ENSP00000423461

Reactome Protein details: O95263
Human Recombinant Protein Products:

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	Uscn Proteins for PDE8B

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005575	cellular_component	ND	--
GO:0005622	intracellular	--	--
GO:0005829	cytosol	TAS	--

PDE8B for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for PDE8B

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

PDE8B for domains About GeneDecksing

5/7 InterPro domains/families (see all 7):

IPR002073 PDEase_catalytic_dom

IPR000014 PAS

IPR013938 PDEase_PDE8

IPR023174 PDEase_CS

IPR023088 PDEase

Graphical View of Domain Structure for InterPro Entry O95263

ProtoNet protein and cluster: O95263

3 Blocks protein families:

IPB000014 PAS domain

IPB013767 PAS fold

IPB013938 3'5'-cyclic nucleotide phosphodiesterase PDE8

UniProtKB/Swiss-Prot: PDE8B_HUMAN, O95263

Domain: Composed of a C-terminal catalytic domain containing two putative divalent metal sites and an N-terminal

regulatory domain

Similarity: Belongs to the cyclic nucleotide phosphodiesterase family. PDE8 subfamily

Similarity: Contains 1 PAS (PER-ARNT-SIM) domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: PDE8B_HUMAN, O95263

Function: Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. May

be involved in specific signaling in the thyroid gland

Catalytic activity: Adenosine 3',5'-cyclic phosphate + H(2)O = adenosine 5'-phosphate

Enzyme regulation: Inhibited by dipyridimole. Insensitive to selective PDE inhibitors including rolipram and milrinone

as well as to the non-selective inhibitor, IBMX. Unaffected by cGMP

Enzyme Number (IUBMB): EC 3.1.4.17¹ ²

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		8/28 QIAGEN miScript miRNA Assays for microRNAs that regulate PDE8B (see all 28):
		hsa-miR-495 hsa-miR-520d-5p hsa-miR-1263 hsa-miR-513a-5p hsa-miR-1271 hsa-miR-128 hsa-miR-218 hsa-miR-103a

		SwitchGear 3'UTR luciferase reporter plasmid: PDE8B 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDE8B

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000156	phosphorelay response regulator activity	IEA	--
GO:0004114	3',5'-cyclic-nucleotide phosphodiesterase activity	NAS	9784418
GO:0004871	signal transducer activity	--	--
GO:0046872	metal ion binding	IEA	--

PDE8B for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Signaling by GPCR

	Signaling by GPCR	1.00			Signal Transduction	0.56
	GPCR downstream signaling	0.89

G Protein Signaling Pathways

G Protein Signaling Pathways

1.00

Purine metabolism

Purine metabolism

1.00

G beta:gamma signalling through PLC beta

G alpha (s) signalling events

0.14

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for PDE8B

G Protein Signaling Pathways

4 Reactome Pathways for PDE8B

	GPCR downstream signaling
	Signal Transduction
	Signaling by GPCR
	G alpha (s) signalling events

1 Kegg Pathway (Kegg details for PDE8B):

Purine metabolism

UniProtKB/Swiss-Prot: PDE8B_HUMAN, O95263

Pathway: Purine metabolism; 3',5'-cyclic AMP degradation; AMP from 3',5'-cyclic AMP: step 1/1

PDE8B for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for PDE8B

STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

5/12 Interacting proteins for PDE8B (ENSP00000264917⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 12)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ADCY2	ENSP00000342952⁴	STRING: ENSP00000342952
GNAI2	ENSP00000312999⁴	STRING: ENSP00000312999
GNAS	ENSP00000360141⁴	STRING: ENSP00000360141
GNAZ	ENSP00000248996⁴	STRING: ENSP00000248996
ADCY1	ENSP00000297323⁴	STRING: ENSP00000297323

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006198	cAMP catabolic process	IEA	--
GO:0006355	regulation of transcription, DNA-dependent	IEA	--
GO:0009187	cyclic nucleotide metabolic process	NAS	9784418
GO:0046676	negative regulation of insulin secretion	IEA	--

PDE8B for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

PDE8B for compounds About GeneDecksing

EMD Millipore small molecules for PDE8B:
Small Molecule - inhibitor

Browse drugs & compounds from Enzo Life Sciences

Compounds for PDE8B available from Tocris Bioscience About this table

Compound	Action	CAS #
Dipyridamole	Adenosine transport inhibitor	[58-32-2]

5 HMDB Compounds for PDE8B About this table

Compound	Synonyms	CAS #	PubMed Ids
Adenosine monophosphate	5'-AMP (see all 28)	61-19-8	--
Cyclic AMP	Cyclic AMP (see all 19)	60-92-4	--
Cyclic GMP	3',5'-cyclic GMP (see all 13)	7665-99-8	--
Guanosine monophosphate	5'-GMP (see all 14)	85-32-5	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

1 DrugBank Compound for PDE8B About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Ketotifen	Ketotifen Fumarate (see all 5)	34580-14-8	target	inhibitor	1702263

2 Novoseek chemical compound relationships for PDE8B gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
dipyridamole	51.2	1	9784418 (1)
cgmp	36.3	2	9784418 (1)

Search CenterWatch for drugs/clinical trials and news about PDE8B

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for PDE8B gene (5 alternative transcripts):

NM_001029851.2 NM_001029852.2 NM_001029853.2 NM_001029854.2 NM_003719.3

Unigene Cluster for PDE8B:

Phosphodiesterase 8B

Hs.584830 [show with all ESTs]

Unigene Representative Sequence: NM_003719

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000505926 ENST00000340978 ENST00000346042 ENST00000264917(uc003kfa.3 uc003kfb.3 uc003kfc.3 uc003kfd.3 uc003kfe.3)

ENST00000342343 ENST00000333194 ENST00000502945 ENST00000503963 ENST00000505283

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		8/28 QIAGEN miScript miRNA Assays for microRNAs that regulate PDE8B (see all 28):
		hsa-miR-495 hsa-miR-520d-5p hsa-miR-1263 hsa-miR-513a-5p hsa-miR-1271 hsa-miR-128 hsa-miR-218 hsa-miR-103a

		SwitchGear 3'UTR luciferase reporter plasmid: PDE8B 3' UTR sequence

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Additional cDNA sequence:

AB085824.1 AB085825.1 AB085826.1 AB085827.1 AF079529.2 AK002074.1 AK023913.1 AL831924.1

AY129948.1 AY129949.1 AY423729.1 BC035144.1 BC043209.2 BC047627.1

15 DOTS entries:

DT.100777747 DT.113855 DT.40210111 DT.100027276 DT.120884499 DT.100777748 DT.91809565 DT.95268672

DT.95251467 DT.85102318 DT.95268673 DT.95351255 DT.120884506 DT.120884515 DT.40217348

24/120 AceView cDNA sequences (see all 120):

BU731978 AI381656 AB085826 BU071384 AA862306 BU781796 BE140794 BF109581

AA669493 BU786861 AL133979 CB054667 AA280111 BM708128 BF108895 AI272300

BU787669 BU786921 CF994628 BM505631 AA348672 AA233993 AU141620 CK825436

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for PDE8B (see all 6) About this scheme

ExUns:	1	^	2a	·	2b	·	2c	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^	20	^	21	^	22	^	23
SP1:
SP2:																																	-
SP3:									-
SP4:																					-		-		-
SP5:			-		-

ECgene alternative splicing isoforms for PDE8B

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PDE8B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAAAGAAATG

About this image

PDE8B expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Outer Nuclear Layer

Mature Rod Cells

Photoreceptors, Retina

Somite

Lumbar Vertebral Body

Somite

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

HyStem+BMP4-induced SK11 cells (HyStem+BMP4 inductio...)

Bone, Cartilage

HyStem+BMP4-induced 7SMOO32 cells (HyStem+BMP4 inductio...)

Adipose

See PDE8B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PDE8B

SOURCE GeneReport for Unigene cluster: Hs.584830

UniProtKB/Swiss-Prot: PDE8B_HUMAN, O95263

Tissue specificity: Abundantly expressed in the thyroid. Also very weakly expressed in brain, spinal cord and placenta.

In the thyroid isoform 1 predominates, and isoforms 2 and 6 are also highly expressed. In the placenta isoforms 1 and

2 are expressed equally. In the brain isoform 2 predominates

SABiosciences Custom PCR Arrays for PDE8B

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for PDE8B gene from 5/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	PDE8B¹	phosphodiesterase 8B	77.49(n) 82.75(a)		427645 XM_425218.3 XP_425218.3
lizard (Anolis carolinensis)	Reptilia	PDE8B⁶	--	87(a)	1 ↔ 1	2(13947894-13973346)
zebrafish (Danio rerio)	Actinopterygii	Dr.11295²	Transcribed sequence with weak similarity to protein more	74.88(n)		BG307503.1
fruit fly (Drosophila melanogaster)	Insecta	CG5411³ Pde8¹	cAMP-specific phosphodiesterase³ Phosphodiesterase 8¹	49(a)³ 48.87(n)¹ 40.98(a)¹		37741¹ NM_166618.2¹ NP_726352.1¹
worm (Caenorhabditis elegans)	Secernentea	Y95B8A.10³	phosphodiesterase	39(a)		I(873483-882715) --

ENSEMBL Gene Tree for PDE8B (if available)
TreeFam Gene Tree for PDE8B (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for PDE8B gene

PDE4D² PDE3A² PDE4B² PDE4C² PDE1B² PDE1A² PDE7B² PDE9A²

PDE1C² PDE7A² PDE8A² PDE4A² PDE3B²

10 SIMAP similar genes for PDE8B using alignment to 6 protein entries: PDE8B_HUMAN (see all proteins):

PDE8A PDE4A PDE4 PDE4D PDE4B5 PDE4C

PDE1A PDE3B PDE1B PDE9A

PDE8B for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for PDE8B
PGOHUM00000246779

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs118077080^1,2	C,F,	--	71712439(+)	`CGGGAT/GAGAAA`	5	--	us2k¹		1		EA	120
rs74713697^1,2	F,	--	71713812(+)	`GCAGAA/GGGAAG`	5	--	int¹		1		WA	118
rs6873097^1,2	C,	--	71714004(+)	`GCCCCA/GTATTC`	5	--	int¹		0	--	--	--	--
rs78490425^1,2	F,	--	71714844(+)	`ATAGTA/GAAAAC`	5	--	int¹		1		WA	118
rs57664206^1,2	C,F,	--	71715037(+)	`CAAGCT/GCTCTC`	5	--	int¹		5		WA CSA NA	244
rs114147299^1,2	C,F,	--	71716812(+)	`CCTGTA/GAAATG`	5	--	int¹		1		WA	118
rs56937283^1,2	C,	--	71716815(+)	`GTAAAA/GTGGTG`	5	--	int¹		2		WA	120
rs60676899^1,2	C,F,	--	71717563(+)	`TACAGG/ACACAT`	5	--	int¹		5		WA CSA NA	244
rs76266466^1,2	F,	--	71718291(+)	`CAATCG/AGAGGG`	5	--	int¹		1		WA	118
rs113546402^1,2	C,	--	71719274(+)	`TGTGAC/TGGGCA`	5	--	int¹		1		NA	2

HapMap Linkage Disequilibrium report for PDE8B (76506274 - 76725632 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for PDE8B
2 CNVs: 64235 99175
3 Indels: 60537 69151 99176
Human Gene Mutation Database (HGMD): PDE8B

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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PDE8B for disorders           About GeneDecksing

OMIM gene information: 603390
OMIM disorders: 609161
UniProtKB/Swiss-Prot: PDE8B_HUMAN, O95263

Defects in PDE8B are the cause of striatal degeneration autosomal dominant (ADSD) [MIM:609161]. It is a

movement disorder affecting the striatal part of the basal ganglia and characterized by bradykinesia, dysarthria and

muscle rigidity. These symptoms resemble idiopathic Parkinson disease, but tremor is not present

Defects in PDE8B are the cause of primary pigmented nodular adrenocortical disease type 3 (PPNAD3)

[MIM:614190]. PPNAD3 is a rare bilateral adrenal defect causing ACTH-independent Cushing syndrome. Macroscopic

appearance of the adrenals is characteristic with small pigmented micronodules observed in the cortex. Adrenal glands

show overall normal size and weight, and multiple small yellow-to-dark brown nodules surrounded by a cortex with a

uniform appearance. Microscopically, there are moderate diffuse cortical hyperplasia with mostly nonpigmented nodules,

multiple capsular deficits and massive circumscribed and infiltrating extra-adrenal cortical excrescences with

micronodules. Clinical manifestations of Cushing syndrome include facial and trunkal obesity, abdominal striae,

muscular weakness, osteoporosis, arterial hypertension, diabetes

14 diseases for PDE8B: About MalaCards

striatal degeneration pigmented nodular adrenocortical disease, primary, 3 striatal degeneration, autosomal dominant primary pigmented nodular adrenocortical disease

carney complex cushing's syndrome adrenal hyperplasia tremor

hypothyroidism parkinson's disease osteoporosis alzheimer's disease

thyroiditis malaria

1 disease from the University of Copenhagen DISEASES database for PDE8B:

Carney complex

Human Genome Epidemiology (HuGE) Navigator: PDE8B (6 documents)

Export disorders for PDE8B gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for PDE8B gene, integrated from 9 sources (see all 31):
(articles sorted by number of sources associating them with PDE8B)

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world of online information

Molecular cloning and characterization of human PDE8B, a novel thyroid-specific isozyme of 3',5'-cyclic nucleotide phosphodiesterase. (PubMed id 9784418)^{1, 2, 3, 9} Hayashi M.... Tanaka T. (1998)
A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex. (PubMed id 18431404)^{1, 2, 9} Horvath A....Stratakis C.A. (2008)
Genomic organization, chromosomal localization, and alternative splicing of the human phosphodiesterase 8B gene. (PubMed id 12372422)^{1, 2, 9} Hayashi M.... Tanaka T. (2002)
Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene. (PubMed id 20085714)^{1, 2, 9} Appenzeller S....KuhlenbAoumer G. (2010)
Comparison of enzymatic characterization and gene organization of cyclic nucleotide phosphodiesterase 8 family in humans. (PubMed id 12681444)^{1, 2, 9} Gamanuma M.... Omori K. (2003)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Abnormalities of cAMP signaling are present in adrenocortical lesions associated with corticotropin-independent Cushing syndrome despite the absence of mutations in known genes. (PubMed id 19429701)^{1, 9} Bimpaki E....Stratakis C. (2009)
Haplotype analysis of the promoter region of phosphod iesterase type 8B (PDE8B) in correlation with inactivating PDE8B mutation and t he serum thyroid-stimulating hormone levels. (PubMed id 20373981)^{1, 9} Horvath A....Stratakis C.A. (2010)
Alterations on phosphodiesterase type 7 and 8 isozyme mRNA expression in Alzheimer's disease brains examined by in situ hybridization. (PubMed id 12895443)^{1, 9} Perez-Torres S....Mengod G. (2003)
Phosphodiesterase 8B gene polymorphism is associated with subclinical hypothyroidism in pregnancy. (PubMed id 19820008)^{1, 9} Shields B.M....Vaidya B. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 8622	HGNC: 8794	AceView: PDE8B	Ensembl:ENSG00000113231	euGenes: HUgn8622
ECgene: PDE8B	Kegg: 8622	H-InvDB: PDE8B

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for PDE8B	Pharmacogenomics, SNPs, Pathways

Intellectual Property for PDE8B gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for PDE8B gene:
Search GeneIP for patents involving PDE8B

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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phosphodiesterase 8B

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