ADCY5 - adenylate cyclase 5 Gene

Homo sapiens

Also known as AC5; FDFM; DSKOD

Gene ID: 111 | Gene type: protein coding

About ADCY5

Cytogenetic location: 3q21.1 Genomic coordinates (GRCh38): 3:123,282,296-123,449,090 (from NCBI)

This gene has 16 transcripts (splice variants), 206 orthologues, 17 paralogues and is associated with 6 phenotypes. Broad expression in heart (RPKM 22.9), brain (RPKM 7.3) and 17 other tissues.

Summary

This gene encodes a member of the membrane-bound adenylyl cyclase Enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

ADCY5 Products(3)

mRNA	Protein	Name
NM_001199642.1	NP_001186571.1	adenylate cyclase type 5 isoform 2
NM_001378259.1	NP_001365188.1	adenylate cyclase type 5 isoform 3
NM_183357.3	NP_899200.1	adenylate cyclase type 5 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables adenylate cyclase activity	IDA IDA: Inferred from direct assay	15385642	GOA
enables adenylate cyclase activity	IMP IMP: Inferred from mutant phenotype	24740569	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	24700542	GOA
involved in cAMP biosynthetic process	IDA IDA: Inferred from direct assay	15385642	GOA
involved in cAMP biosynthetic process	IMP IMP: Inferred from mutant phenotype	24740569	GOA
involved in cellular response to forskolin	IDA IDA: Inferred from direct assay	15385642	GOA
involved in positive regulation of cytosolic calcium ion concentration	IMP IMP: Inferred from mutant phenotype	24740569	GOA
involved in regulation of insulin secretion involved in cellular response to glucose stimulus	IMP IMP: Inferred from mutant phenotype	24740569	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in membrane	IDA IDA: Inferred from direct assay	15385642	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

ADCY5 Protein Structure

Guanylate_cyc

DUF1053

Guanylate_cyc

0
200
400
600
800
1000
1261 a.a.

Protein Preferred Names

Protein Names

adenylate cyclase type 5

ATP pyrophosphate-lyase 5

Related Diseases

Diseases

Alias

Dyskinesia With Orofacial Involvement, Autosomal Dominant

Dyskinesia, Familial, With Facial Myokymia	FDFM
Adcy5-Related Dyskinesia	Familial Dyskinesia And Facial Myokymia
DSKOD	Familial Dyskinesia With Facial Myokymia

Dyskinesia With Orofacial Involvement, Autosomal Recessive

DSKOR

Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia

NEDHYD

Chorea, Benign Hereditary

Benign Hereditary Chorea	BHC
Chorea, Hereditary Benign	Benign Familial Chorea
Bch	Hereditary Progressive Chorea Without Dementia
Chorea Familial Benign	Hereditary Chorea Without Dementia
Chorea Benign Hereditary	Bche Deficiency
Chorea, Hereditary, Benign	Chorea, Benign Familial

Dyskinetic Cerebral Palsy

Athetoid Cerebral Palsy	Athetoid Dyskinetic Cerebral Palsy
Cerebral Palsy Athetoid	Cerebral Palsy Dyskinetic
Athetoid Cerebral Paralysis	Dyskinetic Cerebral Paralysis
Vogt Disease	Athetoid Cerebrum Palsy
Double Athetosis Syndrome	État Marbré

Hemiplegia

Infantile Hemiplegia	Postnatal Infantile Hemiplegia
Hemiplegia, Infantile

Neurodevelopmental Disorder With Involuntary Movements

NEDIM

Cowden Syndrome 6

CWS6	Cowden Syndrome, Type 6

Choreatic Disease

Chorea

Hereditary Chorea

Alternating Hemiplegia Of Childhood

Alternating Hemiplegia	Ahc
Alternating Hemiplegia Syndrome	Hemiplegia, Alternating, Of Childhood
Hemiplegia, Crossed

Angiostrongyliasis

A. Cantonensis Angiostrongyliasis

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Major Depressive Disorder

Seasonal Affective Disorder	Unipolar Depression
Depression	MDD
Depressive Disorder	Unipolar Depression, Susceptibility To
Major Depressive Disorder 1	Major Depressive Disorder, Response To Citalopram Therapy In
Major Depressive Disorder 2	Winter Depression
Single Major Depressive Episode	Sad
Clinical Depression	Major Depression
Depressive Syndrome	Major Depressive Disorder And Accelerated Response To Antidepressant Drug Treatment
Seasonal Affective Disorder, Susceptibility To	Recurrent Major Depression
Affective Disorder, Seasonal	Depression In A Seasonal Pattern
Depression	Seasonal
Major Depressive Disorder With A Seasonal Pattern	Seasonal Depression
Seasonal Mood Disorder	Mental Depression
Recurrent Major Depressive Episodes

Movement Disease

Movement Disorders

Movement Disorder

Long Qt Syndrome 1

Romano-Ward Syndrome	LQT1
Ward-Romano Syndrome	Rws
Ventricular Fibrillation With Prolonged Qt Interval	Wrs
Long Qt Syndrome 1, Acquired, Susceptibility To	Long Qt Syndrome 1, Acquired
Romano-Ward Long Qt Syndrome	Long Qt Syndrome Type 1
Long Qt Syndrome-1	Acquired Susceptibility To Long Qt Syndrome 1
Qt Syndrome, Long, Type 1

Maturity-Onset Diabetes Of The Young

MODY	Maturity Onset Diabetes Mellitus In Young
Mason-Type Diabetes	Mason Type Diabetes
Maturity Onset Diabetes Of The Young	Mody Syndrome
Diabetes Of The Young, Maturity-Onset

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00331	ADCY5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ADCY5	VGNC	VGNC:25646
Felis catus	ADCY5	VGNC	VGNC:59618
Rattus norvegicus	ADCY5	RGD	RGD:71014
Mus musculus	ADCY5	MGD	MGI:99673
Canis familiaris	ADCY5	VGNC	VGNC:37622
Macaca mulatta	ADCY5	VGNC	VGNC:69512

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