PDE8B (phosphodiesterase 8B)

Gene

• Entrez ID: 8622
• Gene name: Phosphodiesterase 8B
• Gene symbol: PDE8B
• Synonyms: ADSD, PPNAD3
• Chromosome: 5
• Chromosome location: 5q13.3
• 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 ar

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918360	A>C	Pathogenic	Coding sequence variant, intron variant, missense variant
rs878853157	C>-	Pathogenic	Intron variant, genic upstream transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant
rs878853158	G>T	Pathogenic	Intron variant, genic upstream transcript variant, stop gained, coding sequence variant, 5 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018136	hsa-miR-335-5p	Microarray	18185580
MIRT1221068	hsa-miR-135a	CLIP-seq
MIRT1221069	hsa-miR-135b	CLIP-seq
MIRT1221070	hsa-miR-203	CLIP-seq
MIRT1221071	hsa-miR-3646	CLIP-seq
MIRT1221072	hsa-miR-3662	CLIP-seq
MIRT1221073	hsa-miR-3671	CLIP-seq
MIRT1221074	hsa-miR-4252	CLIP-seq
MIRT1221075	hsa-miR-4761-3p	CLIP-seq
MIRT1221076	hsa-miR-548b-3p	CLIP-seq
MIRT1221077	hsa-miR-607	CLIP-seq
MIRT2063792	hsa-miR-128	CLIP-seq
MIRT2063793	hsa-miR-27a	CLIP-seq
MIRT2063794	hsa-miR-27b	CLIP-seq
MIRT2063795	hsa-miR-4679	CLIP-seq
MIRT2063796	hsa-miR-513a-5p	CLIP-seq
MIRT2292248	hsa-miR-1224-5p	CLIP-seq
MIRT2292249	hsa-miR-132	CLIP-seq
MIRT2292250	hsa-miR-212	CLIP-seq
MIRT2292251	hsa-miR-3915	CLIP-seq
MIRT2292252	hsa-miR-3928	CLIP-seq
MIRT2292253	hsa-miR-4659a-3p	CLIP-seq
MIRT2292254	hsa-miR-4659b-3p	CLIP-seq
MIRT2292255	hsa-miR-4689	CLIP-seq
MIRT2292256	hsa-miR-4803	CLIP-seq
MIRT2292257	hsa-miR-490-5p	CLIP-seq
MIRT2292258	hsa-miR-570	CLIP-seq
MIRT2465819	hsa-miR-1226	CLIP-seq
MIRT2465820	hsa-miR-3616-3p	CLIP-seq
MIRT2465821	hsa-miR-518d-5p	CLIP-seq
MIRT2465822	hsa-miR-519b-5p	CLIP-seq
MIRT2465823	hsa-miR-519c-5p	CLIP-seq
MIRT2465824	hsa-miR-520c-5p	CLIP-seq
MIRT2465825	hsa-miR-526a	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004114	Function	3',5'-cyclic-nucleotide phosphodiesterase activity	IBA	21873635
GO:0004115	Function	3',5'-cyclic-AMP phosphodiesterase activity	IBA	21873635
GO:0004115	Function	3',5'-cyclic-AMP phosphodiesterase activity	IMP	9784418
GO:0005575	Component	Cellular_component	ND
GO:0005829	Component	Cytosol	TAS
GO:0006198	Process	CAMP catabolic process	IEA
GO:0007165	Process	Signal transduction	IBA	21873635
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 603390
• HGNC: 8794
• e!Ensembl: ENSG00000113231

Protein

• UniProt ID: O95263
• Protein name: High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B (HsPDE8B) (EC 3.1.4.53) (Cell proliferation-inducing gene 22 protein)
• Protein 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.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08629	PDE8	1 → 47	PDE8 phosphodiesterase	Family
  PF13426	PAS_9	279 → 385	PAS domain	Domain
  PF00233	PDEase_I	614 → 862		Domain

• Sequence:

  MGCAPSIHVSQSGVIYCRDSDESSSPRQTTSVSQGPAAPLPGLFVQTDAADAIPPSRASG
  PPSVARVRRARTELGSGSSAGSAAPAATTSRGRRRHCCSSAEAETQTCYTSVKQVSSAEV
  RIGPMRLTQDPIQVLLIFAKEDSQSDGFWWACDRAGYRCNIARTPESALECFLDKHHEII
  VIDHRQTQNFDAEAVCRSIRATNPSEHTVILAVVSRVSDDHEEASVLPLLHAGFNRRFME
  NSSIIACYNELIQIEHGEVRSQFKLRACNSVFTALDHCHEAIEITSDDHVIQYVNPAFER
  MMGYHKGELLGKELADLPKSDKNRADLLDTINTCIKKGKEWQGVYYARRKSGDSIQQHVK
  ITPVIGQGGKIRHFVSLKKLCCTTDNNKQIHKIHRDSGDNSQTEPHSFRYKNRRKESIDV
  KSISSRGSDAPSLQNRRYPSMARIHSMTIEAPITKVINIINAAQENSPVTVAEALDRVLE
  ILRTTELYSPQLGTKDEDPHTSDLVGGLMTDGLRRLSGNEYVFTKNVHQSHSHLAMPITI
  NDVPPCISQLLDNEESWDFNIFELEAITHKRPLVYLGLKVFSRFGVCEFLNCSETTLRAW
  FQVIEANYHSSNAYHNSTHAADVLHATAFFLGKERVKGSLDQLDEVAALIAATVHDVDHP
  GRTNSFLCNAGSELAVLYNDTAVLESHHTALAFQLTVKDTKCNIFKNIDRNHYRTLRQAI
  IDMVLATEMTKHFEHVNKFVNSINKPMAAEIEGSDCECNPAGKNFPENQILIKRMMIKCA
  DVANPCRPLDLCIEWAGRISEEYFAQTDEEKRQGLPVVMPVFDRNTCSIPKSQISFIDYF
  ITDMFDAWDAFAHLPALMQHLADNYKHWKTLDDLKCKSLRLPSDS

• Sequence length: 885

Pathways

KEGG:

Purine metabolism
Metabolic pathways
Cortisol synthesis and secretion
Cushing syndrome
Morphine addiction

Reactome:

G alpha (s) signalling events

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	rs104894069, rs1365173817, rs104894070, rs556794126, rs104894138, rs104894139, rs104894149, rs104894142, rs104894153, rs6471, rs7769409, rs9378251, rs201552310, rs397509367, rs6445, rs387906510, rs1474566961, rs7755898, rs72552754, rs151344503, rs151344504, rs1582299448, rs1582302625, rs72552757, rs80358217, rs80358220, rs80358221, rs121912974, rs28931607, rs72552772, rs72552771, rs28931608, rs786205875, rs121912976, rs1554299737, rs193922538, rs193922539, rs193922541, rs387907572, rs267606756, rs786204728, rs886038207, rs753774484, rs1554304513, rs1554305880, rs1429901248, rs767128094, rs367634557, rs936203749, rs1563435458, rs754609778, rs1563867837, rs776989258, rs1582298980, rs1582309414, rs1582300748, rs781805159, rs782336856, rs373613946, rs770199817, rs1582304457, rs1582304536, rs1582305275, rs182942340, rs1582307951, rs1367112998, rs1582312633, rs779791105, rs72552758, rs1447069098	18272904
Diabetes mellitus	Diabetes Mellitus	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261
Hypertension	Hypertensive disease	rs13306026, rs13333226
Hyperthyroidism	Hyperthyroidism	rs121908861, rs121908864, rs121908874, rs121908875, rs121908876, rs121908877, rs121908873, rs121908880, rs121908883, rs121909258, rs6256, rs869312167	30367059
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605	27182965, 30595370, 30367059
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601	27903959
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Pigmented nodular adrenocortical disease	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3, Primary pigmented nodular adrenocortical disease	rs121918360, rs281864801, rs386352352, rs724160013, rs769235876, rs771254375	18431404, 18272904, 18431404
Striatal degeneration	Striatal Degeneration, Autosomal Dominant, STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1	rs875989840, rs875989841, rs1554258695	20085714
Striatal neurodegeneration	Autosomal dominant striatal neurodegeneration	rs2147483647, rs878853157, rs878853158

Unknown
Disease name	Disease term	dbSNP ID	References
Adrenal hyperplasia	Adrenal hyperplasia
Atrophy	Linear atrophy
Basal ganglia diseases	Basal Ganglia Diseases		20085714
Degeneration of the striatum	Degeneration of the striatum
Degenerative diseases, central nervous system	Degenerative Diseases, Central Nervous System, Degenerative Diseases, Spinal Cord		20085714
Dwarfism	Dwarfism
Dysarthria	Dysarthria		20085714
Dysphagia	Deglutition Disorders
Extrapyramidal disease	Extrapyramidal Disorders		20085714
Hypogonadism	Hypogonadism
Lenticulostriate disorders	Lenticulostriate Disorders		20085714
Neurodegenerative disorders	Neurodegenerative Disorders		20085714
Symmetric lesions of the basal ganglia	Symmetric lesions of the basal ganglia