PDE8B - phosphodiesterase 8B Gene

Also Known as ADSD; PPNAD3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8622

About PDE8B

Cytogenetic location: 5q13.3 Genomic coordinates (GRCh38): 5:77,180,304-77,428,256 (from NCBI)

This gene has 9 transcripts (splice variants), 202 orthologues, 20 paralogues and is associated with 4 phenotypes. Biased expression in thyroid (RPKM 82.4), brain (RPKM 15.1) and 5 other tissues.

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]

PDE8B Products (27)

mRNA Protein Name
NM_001029851.4 NP_001025022.1 high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 3
NM_001029852.4 NP_001025023.1 high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 5
NM_001029853.4 NP_001025024.1 high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 4
NM_001029854.4 NP_001025025.1 high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 2
NM_001349748.3 NP_001336677.1 high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 6
NM_001349749.3 NP_001336678.1 high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 7
NM_001349750.3 NP_001336679.1 high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 8
NM_001349751.3 NP_001336680.1 high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 9
NM_001349752.3 NP_001336681.1 high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 10
NM_001349753.2 NP_001336682.1 high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 11
NM_001376062.1 NP_001362991.1 high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 12
NM_001376063.1 NP_001362992.1 high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 13
NM_001376064.1 NP_001362993.1 high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 14
NM_001376065.1 NP_001362994.1 high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 15
NM_001376066.1 NP_001362995.1 high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 16
NM_001376067.1 NP_001362996.1 high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 11
NM_001376068.1 NP_001362997.1 high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 11
NM_001376069.1 NP_001362998.1 high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 17
NM_001376070.1 NP_001362999.1 high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 18
NM_001376071.1 NP_001363000.1 high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 19
NM_001376072.1 NP_001363001.1 high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 20
NM_001376073.1 NP_001363002.1 high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 21
NM_001376074.1 NP_001363003.1 high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 22
NM_001376075.1 NP_001363004.1 high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 23
NM_001414622.1 NP_001401551.1 high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 11
NM_001414623.1 NP_001401552.1 high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 11
NM_003719.5 NP_003710.1 high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 1
Molecular Function GO Annotation Evidence References Source
enables 3',5'-cyclic-AMP phosphodiesterase activity IMP
IMP: Inferred from mutant phenotype
9784418 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PDE8B Protein Structure

PDE8

PDE8: PDE8 phosphodiesterase (1 - 52)

Response_reg

Response_reg: Response regulator receiver domain (135 - 251)

PAS_9

PAS_9: PAS domain (280 - 375)

PDEase_I

PDEase_I: 3'5'-cyclic nucleotide phosphodiesterase (614 - 854)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 885 a.a.
Protein Preferred Names Protein Names

high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B

  • 3',5' cyclic nucleotide phosphodiesterase 8B

Related Diseases

Diseases Alias
Pigmented Nodular Adrenocortical Disease, Primary, 3
  • PPNAD3

  • Cushing Syndrome, Adrenal, Due To Ppnad3

  • Primary Pigmented Nodular Adrenocortical Disease 3

  • Adrenal Cushing Syndrome Due To Ppnad3

  • Adrenocortical Disease, Nodular, Pigmented, Primary, Type 3

Striatal Degeneration, Autosomal Dominant 1
  • Striatal Degeneration, Autosomal Dominant

  • ADSD1

  • Autosomal Dominant Striatal Neurodegeneration

  • Adsd

Primary Pigmented Nodular Adrenocortical Disease
  • Ppnad

  • Primary Pigmented Nodular Adrenal Dysplasia

  • Pigmented Nodular Adrenocortical Disease, Primary, 2

  • Pigmented Nodular Adrenocortical Disease, Primary, 1

Acth-Independent Cushing Syndrome
  • Adrenal Cushing Syndrome

  • Adrenocorticotropic Hormone-Independent Cushing Syndrome

  • Corticotropin-Independent Cushing Syndrome

Hyperthyroxinemia
Basophil Adenoma
  • Adenoma, Basophil

  • Pituitary Gland Basophilic Adenoma

Acth-Independent Macronodular Adrenal Hyperplasia
  • Acth-Independent Macronodular Adrenocortical Hyperplasia

  • Adrenocorticotropic Hormone-Independent Macronodular Adrenal Hyperplasia

  • Corticotropin-Independent Macronodular Adrenal Hyperplasia

  • Cushing Syndrome Due To Macronodular Adrenal Hyperplasia

  • AIMAH1

  • Aimah

  • Massive Macronodular Adrenocortical Disease

  • Mmad

  • Primary Macronodular Adrenal Hyperplasia

  • Cushing Syndrome, Adrenal, Due To Aimah

  • Primary Bilateral Macronodular Adrenal Hyperplasia

  • Acth-Independent Macronodular Adrenal Hyperplasia 1

  • Acth-Independent Cushing Syndrome

  • Adrenal Cushing Syndrome Due To Aimah

  • Acth-Independent Macronodular Adrenal Hyperplasia 2

Hypothalamic Neoplasm
  • Hypothalamic Neoplasms

  • Neoplasm Of The Hypothalamus

  • Tumor Of Hypothalamus

Diencephalic Neoplasm
  • Malignant Diencephalic Neoplasm

  • Malignant Diencephalic Tumor

  • Tumor Of Diencephalon

Carney Complex Variant
  • Carney Complex

  • Carney Syndrome

  • Carney Complex, Type 1

  • Lamb Syndrome

  • Name Syndrome

  • Myxoma-Spotty Pigmentation-Endocrine Overactivity Syndrome

  • Carney Complex - Trismus - Pseudocamptodactyly Syndrome

  • Carney Complex, Type 2

  • Car

  • Cnc1

  • Carney Myxoma-Endocrine Complex

  • Myxoma - Spotty Pigmentation - Endocrine Overactivity

  • Myxoma, Spotty Pigmentation, And Endocrine Overactivity

  • Lamb - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome

  • Name - Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome

  • Carney Complex-Trismus-Pseudocamptodactyly Syndrome

  • CACOV

Adrenal Carcinoma
  • Adrenal Cancer

  • Adrenal Gland Cancer

  • Malignant Neoplasm Of Adrenal Gland

  • Adrenal Gland Neoplasms

  • Carcinoma Of The Adrenal Gland

  • Adrenal Neoplasm

  • Malignant Adrenal Tumor

  • Neoplasm Of Adrenal Gland

  • Tumor Of The Adrenal Gland

  • Adrenal Gland Neoplasm

  • Adrenocortical Carcinoma

  • Adrenal Gland Malignancy

  • Suprarenal Cancer

  • Malignant Neoplasm Of Suprarenal Gland

  • Malignant Neoplasm Of Adrenal Gland, Unspecified

  • Malignant Tumour Of Adrenal Gland

  • Suprarenal Gland Cancer

  • Primary Malignant Neoplasm Of Adrenal Gland

Mccune-Albright Syndrome
  • Mass Syndrome

  • Polyostotic Fibrous Dysplasia

  • MAS

  • Fibrous Dysplasia Of Bone

  • Albright Syndrome

  • Mass Phenotype

  • Overlap Connective Tissue Disease

  • Mccune Albright Syndrome

  • Osteitis Fibrosa Disseminata

  • OCTD

  • Albright'S Disease

  • Pfd

  • Pofd

  • Albright'S Syndrome

  • Mccune-Albright Syndrome, Somatic, Mosaic

  • Albright'S Disease Of Bone

  • Albright'S Syndrome With Precocious Puberty

  • Albright-Mccune-Sternberg Syndrome

  • Albright-Sternberg Syndrome

  • Fibrous Dysplasia With Pigmentary Skin Changes And Precocious Puberty

  • Gonadotropin-Independent Female-Limited Sexual Precocity

  • Fibrous Dysplasia Polyostotic

  • Fibrous Dysplasia, Polyostotic

Conn'S Syndrome
  • Cushing Syndrome

  • Hyperaldosteronism

  • Primary Hyperaldosteronism

  • Hypercortisolism

  • Primary Aldosteronism

  • Cushing'S Syndrome

  • Adrenal Gland Hyperfunction

  • Conn Syndrome

  • Hyperadrenalism

  • Ectopic Acth Syndrome

  • Hyperadrenocorticism

  • Cushing Disease

  • Cushing'S Disease

  • Adrenal Cortex Adenoma

  • Corticotroph Pituitary Adenoma

  • Pituitary Corticotroph Micro-Adenoma

  • Pituitary-Dependent Cushing Syndrome

  • Pituitary Acth Hypersecretion

  • Acth Syndrome, Ectopic

  • Acth-Secreting Pituitary Adenoma

  • Adrenal Hyperfunction Resulting From Pituitary Acth Excess

  • Ectopic Adrenocorticotropic Hormone Syndrome

  • Nodular Primary Adrenocortical Dysplasia

  • Pituitary Dependent Cushing Syndrome

  • Pituitary Cushing Syndrome

  • Pituitary-Dependant Cushing Syndrome

  • Pituitary-Dependant Hypercortisolism

  • Pituitary-Dependant Hypercortisolism Disorder

  • Aldosteronism Primary

  • Acth Syndrome Ectopic

  • Adrenal Cushing'S Syndrome

  • Adrenal Cortical Adenoma

  • Cushing Syndrome Nos

  • Cortisol Hypersecretion

  • Corticoadrenal Hypersecretion

  • Cushing Syndrome Secondary To Ectopic Acth-Secretion

  • Ectopic Cushing Syndrome

  • Hypercortisolism Due To Nonpituitary Tumour

  • Ectopic Acth - [Adrenocorticotropic Hormone] Secretion

  • Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome

  • Idiopathic Aldosteronism

  • Aldosteronism

  • Primary Aldosteronism Due To Bilateral Adrenal Hyperplasia

  • Primary Aldosteronism Due To Adrenal Hyperplasia

Hypothyroidism
  • Thyroid Diseases

  • Thyroid Disease

  • Thyroid Deficiency

  • Thyroid Insufficiency

  • Dysfunction Thyroid

  • Thyroid Dysfunction

Melanotic Neurilemmoma
  • Melanotic Schwannoma

  • Pigmented Neurilemmoma

  • Pigmented Schwannoma

Adrenal Cortex Disease
  • Adrenal Cortex Diseases

Adrenal Gland Disease
  • Adrenal Gland Diseases

  • Adrenal Gland Disorders

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus PDE8B VGNC VGNC:102285
Rattus norvegicus PDE8B RGD RGD:735041
Mus musculus PDE8B MGD MGI:2443999
Canis familiaris PDE8B VGNC VGNC:44366
Others PDE8B NCBI