ADCY5 (adenylate cyclase 5)

2017-11-01 Affiliation

Identity

HGNC

ADCY5

LOCATION

3q21.1

LOCUSID

111

ALIAS

AC5,FDFM

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 111
MIM: 600293
HGNC: 236
Ensembl: ENSG00000173175

Variants:

dbSNP: 111
ClinVar: 111
TCGA: ENSG00000173175
COSMIC: ADCY5

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000173175	ENST00000309879	O95622
ENSG00000173175	ENST00000462833	O95622
ENSG00000173175	ENST00000462833	A0A384P5Q5
ENSG00000173175	ENST00000466617	C9JRT8
ENSG00000173175	ENST00000476455	F8WBM0
ENSG00000173175	ENST00000483566	C9JQ38
ENSG00000173175	ENST00000491190	B3KWA8

Expression (GTEx)

100

150

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Purine metabolism	KEGG	ko00230
Gap junction	KEGG	ko04540
GnRH signaling pathway	KEGG	ko04912
Progesterone-mediated oocyte maturation	KEGG	ko04914
Melanogenesis	KEGG	ko04916
Purine metabolism	KEGG	hsa00230
Gap junction	KEGG	hsa04540
GnRH signaling pathway	KEGG	hsa04912
Melanogenesis	KEGG	hsa04916
Parkinson's disease	KEGG	hsa05012
Pathways in cancer	KEGG	hsa05200
Vascular smooth muscle contraction	KEGG	hsa04270
Chemokine signaling pathway	KEGG	ko04062
Vascular smooth muscle contraction	KEGG	ko04270
Chemokine signaling pathway	KEGG	hsa04062
Progesterone-mediated oocyte maturation	KEGG	hsa04914
Dilated cardiomyopathy	KEGG	ko05414
Dilated cardiomyopathy	KEGG	hsa05414
Oocyte meiosis	KEGG	ko04114
Oocyte meiosis	KEGG	hsa04114
Salivary secretion	KEGG	ko04970
Salivary secretion	KEGG	hsa04970
Gastric acid secretion	KEGG	ko04971
Gastric acid secretion	KEGG	hsa04971
Pancreatic secretion	KEGG	ko04972
Pancreatic secretion	KEGG	hsa04972
Bile secretion	KEGG	ko04976
Bile secretion	KEGG	hsa04976
Glutamatergic synapse	KEGG	ko04724
Glutamatergic synapse	KEGG	hsa04724
Cholinergic synapse	KEGG	hsa04725
HTLV-I infection	KEGG	ko05166
HTLV-I infection	KEGG	hsa05166
GABAergic synapse	KEGG	ko04727
GABAergic synapse	KEGG	hsa04727
Dopaminergic synapse	KEGG	ko04728
Dopaminergic synapse	KEGG	hsa04728
Serotonergic synapse	KEGG	hsa04726
Retrograde endocannabinoid signaling	KEGG	hsa04723
Retrograde endocannabinoid signaling	KEGG	ko04723
Cocaine addiction	KEGG	hsa05030
Cocaine addiction	KEGG	ko05030
Amphetamine addiction	KEGG	hsa05031
Amphetamine addiction	KEGG	ko05031
Morphine addiction	KEGG	hsa05032
Morphine addiction	KEGG	ko05032
Alcoholism	KEGG	hsa05034
Alcoholism	KEGG	ko05034
Circadian entrainment	KEGG	hsa04713
Circadian entrainment	KEGG	ko04713
Insulin secretion	KEGG	hsa04911
Ovarian steroidogenesis	KEGG	hsa04913
Ovarian steroidogenesis	KEGG	ko04913
Estrogen signaling pathway	KEGG	hsa04915
Estrogen signaling pathway	KEGG	ko04915
Thyroid hormone synthesis	KEGG	hsa04918
Thyroid hormone synthesis	KEGG	ko04918
Rap1 signaling pathway	KEGG	hsa04015
Rap1 signaling pathway	KEGG	ko04015
Adrenergic signaling in cardiomyocytes	KEGG	hsa04261
Adrenergic signaling in cardiomyocytes	KEGG	ko04261
Inflammatory mediator regulation of TRP channels	KEGG	hsa04750
Inflammatory mediator regulation of TRP channels	KEGG	ko04750
Platelet activation	KEGG	hsa04611
Oxytocin signaling pathway	KEGG	hsa04921
Oxytocin signaling pathway	KEGG	ko04921
cGMP-PKG signaling pathway	KEGG	hsa04022
cGMP-PKG signaling pathway	KEGG	ko04022
cAMP signaling pathway	KEGG	hsa04024
cAMP signaling pathway	KEGG	ko04024
cAMP signaling	KEGG	hsa_M00695
cAMP signaling	KEGG	M00695
Regulation of lipolysis in adipocytes	KEGG	hsa04923
Renin secretion	KEGG	hsa04924
Renin secretion	KEGG	ko04924
Neuronal System	REACTOME	R-HSA-112316
Transmission across Chemical Synapses	REACTOME	R-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell	REACTOME	R-HSA-112314
GABA receptor activation	REACTOME	R-HSA-977443
GABA B receptor activation	REACTOME	R-HSA-977444
Activation of GABAB receptors	REACTOME	R-HSA-991365
Inhibition of adenylate cyclase pathway	REACTOME	R-HSA-997269
Adenylate cyclase inhibitory pathway	REACTOME	R-HSA-170670
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
DAP12 interactions	REACTOME	R-HSA-2172127
DAP12 signaling	REACTOME	R-HSA-2424491
DAG and IP3 signaling	REACTOME	R-HSA-1489509
CaM pathway	REACTOME	R-HSA-111997
Calmodulin induced events	REACTOME	R-HSA-111933
PKA-mediated phosphorylation of CREB	REACTOME	R-HSA-111931
PKA activation	REACTOME	R-HSA-163615
Signal Transduction	REACTOME	R-HSA-162582
Signaling by EGFR	REACTOME	R-HSA-177929
EGFR interacts with phospholipase C-gamma	REACTOME	R-HSA-212718
Signalling by NGF	REACTOME	R-HSA-166520
NGF signalling via TRKA from the plasma membrane	REACTOME	R-HSA-187037
PLC-gamma1 signalling	REACTOME	R-HSA-167021
Signaling by PDGF	REACTOME	R-HSA-186797
Downstream signal transduction	REACTOME	R-HSA-186763
Signaling by GPCR	REACTOME	R-HSA-372790
GPCR downstream signaling	REACTOME	R-HSA-388396
G alpha (s) signalling events	REACTOME	R-HSA-418555
G alpha (i) signalling events	REACTOME	R-HSA-418594
G alpha (z) signalling events	REACTOME	R-HSA-418597
Opioid Signalling	REACTOME	R-HSA-111885
G-protein mediated events	REACTOME	R-HSA-112040
PLC beta mediated events	REACTOME	R-HSA-112043
Ca-dependent events	REACTOME	R-HSA-111996
Adenylate cyclase activating pathway	REACTOME	R-HSA-170660
Signaling by Hedgehog	REACTOME	R-HSA-5358351
Hedgehog 'off' state	REACTOME	R-HSA-5610787
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
Aquaporin-mediated transport	REACTOME	R-HSA-445717
Vasopressin regulates renal water homeostasis via Aquaporins	REACTOME	R-HSA-432040
Metabolism	REACTOME	R-HSA-1430728
Integration of energy metabolism	REACTOME	R-HSA-163685
Regulation of insulin secretion	REACTOME	R-HSA-422356
Adrenaline,noradrenaline inhibits insulin secretion	REACTOME	R-HSA-400042
Glucagon-like Peptide-1 (GLP1) regulates insulin secretion	REACTOME	R-HSA-381676
Glucagon signaling in metabolic regulation	REACTOME	R-HSA-163359
PKA activation in glucagon signalling	REACTOME	R-HSA-164378
Aldosterone synthesis and secretion	KEGG	hsa04925
Aldosterone synthesis and secretion	KEGG	ko04925
Phospholipase D signaling pathway	KEGG	ko04072
Phospholipase D signaling pathway	KEGG	hsa04072
Longevity regulating pathway	KEGG	hsa04211
Longevity regulating pathway - multiple species	KEGG	ko04213
Longevity regulating pathway - multiple species	KEGG	hsa04213
Endocrine resistance	KEGG	ko01522
Endocrine resistance	KEGG	hsa01522
Apelin signaling pathway	KEGG	hsa04371

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association
PA172	GNAI1	Gene	Pathway	associated
PA173	GNAI3	Gene	Pathway	associated
PA175	GNAS	Gene	Pathway	associated
PA24347	GNAI2	Gene	Pathway	associated

References

Pubmed ID	Year	Title	Citations
36610259	2023	Deep brain stimulation effect in genetic dyskinetic cerebral palsy: The case of ADCY5- related disease.	0
36610259	2023	Deep brain stimulation effect in genetic dyskinetic cerebral palsy: The case of ADCY5- related disease.	0
35288007	2022	Mutation of ADCY5 gene in patients with Meige syndrome.	1
36233117	2022	Association of MARC1, ADCY5, and BCO1 Variants with the Lipid Profile, Suggests an Additive Effect for Hypertriglyceridemia in Mexican Adult Men.	2
35288007	2022	Mutation of ADCY5 gene in patients with Meige syndrome.	1
36233117	2022	Association of MARC1, ADCY5, and BCO1 Variants with the Lipid Profile, Suggests an Additive Effect for Hypertriglyceridemia in Mexican Adult Men.	2
33493164	2021	Gαi1 inhibition mechanism of ATP-bound adenylyl cyclase type 5.	4
33684620	2021	By inhibiting ADCY5, miR-18a-3p promotes osteoporosis and possibly contributes to spinal fracture.	2
33704598	2021	Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability.	4
33934385	2021	An Update on the Phenotype, Genotype and Neurobiology of ADCY5-Related Disease.	16
34169461	2021	Association of diabetes-related variants in ADCY5 and CDKAL1 with neonatal insulin, C-peptide, and birth weight.	0
33493164	2021	Gαi1 inhibition mechanism of ATP-bound adenylyl cyclase type 5.	4
33684620	2021	By inhibiting ADCY5, miR-18a-3p promotes osteoporosis and possibly contributes to spinal fracture.	2
33704598	2021	Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability.	4
33934385	2021	An Update on the Phenotype, Genotype and Neurobiology of ADCY5-Related Disease.	16

Citation

Dessen P

ADCY5 (adenylate cyclase 5)

Atlas Genet Cytogenet Oncol Haematol. 2017-11-01

Online version: http://atlasgeneticsoncology.org/gene/57259