Entity Details

Primary name ADCY6
Entity type gene
Source Source Link

Details

PrimaryID112
RefseqGeneNG_042166
SymbolADCY6
Nameadenylate cyclase 6
Chromosome12
Location12q13.12
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1997-11-18
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsADCY6_HUMAN

GO terms

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GOName
GO:0002862 negative regulation of inflammatory response to antigenic stimulus
GO:0003091 renal water homeostasis
GO:0004016 adenylate cyclase activity
GO:0005080 protein kinase C binding
GO:0005524 ATP binding
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005929 cilium
GO:0006171 cAMP biosynthetic process
GO:0007186 G protein-coupled receptor signaling pathway
GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway
GO:0007190 activation of adenylate cyclase activity
GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway
GO:0007212 dopamine receptor signaling pathway
GO:0010977 negative regulation of neuron projection development
GO:0016020 membrane
GO:0019901 protein kinase binding
GO:0031226 intrinsic component of plasma membrane
GO:0032420 stereocilium
GO:0034199 activation of protein kinase A activity
GO:0035556 intracellular signal transduction
GO:0035811 negative regulation of urine volume
GO:0046872 metal ion binding
GO:0071377 cellular response to glucagon stimulus
GO:0071380 cellular response to prostaglandin E stimulus
GO:0071870 cellular response to catecholamine stimulus
GO:0097746 blood vessel diameter maintenance
GO:1904117 cellular response to vasopressin
GO:1904322 cellular response to forskolin

Diseases

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Disease IDSourceNameDescription
616287 OMIMLethal congenital contracture syndrome 8 (LCCS8)A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS8 is an axoglial form of arthrogryposis multiplex congenita, characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period. The disease is caused by variants affecting the gene represented in this entry.