ENSG00000174233


Homo sapiens

Features
Gene ID: ENSG00000174233
  
Biological name :ADCY6
  
Synonyms : ADCY6 / adenylate cyclase 6 / O43306
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: -1
Band: q13.12
Gene start: 48766194
Gene end: 48789037
  
Corresponding Affymetrix probe sets: 209195_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000311405
Ensembl peptide - ENSP00000350536
Ensembl peptide - ENSP00000446730
Ensembl peptide - ENSP00000447702
NCBI entrez gene - 112     See in Manteia.
OMIM - 600294
RefSeq - XM_017018743
RefSeq - NM_015270
RefSeq - XM_006719210
RefSeq Peptide - NP_056085
swissprot - O43306
swissprot - F8VZJ5
Ensembl - ENSG00000174233
  
Related genetic diseases (OMIM): 616287 - ?Lethal congenital contracture syndrome 8, 616287
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 adcy6aENSDARG00000061445Danio rerio
 adcy6bENSDARG00000027797Danio rerio
 Adcy6ENSMUSG00000022994Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ADCY5 / O95622 / adenylate cyclase 5ENSG0000017317568
ADCY8 / P40145 / adenylate cyclase 8ENSG0000015589739
ADCY1 / Q08828 / adenylate cyclase 1ENSG0000016474238
ADCY2 / Q08462 / adenylate cyclase 2ENSG0000007829535
ADCY4 / Q8NFM4 / adenylate cyclase 4ENSG0000012946734
ADCY7 / P51828 / adenylate cyclase 7ENSG0000012128134
ADCY3 / O60266 / adenylate cyclase 3ENSG0000013803134
ADCY9 / O60503 / adenylate cyclase 9ENSG0000016210426


Protein motifs (from Interpro)
Interpro ID Name
 IPR001054  Adenylyl cyclase class-3/4/guanylyl cyclase
 IPR009398  Adenylate cyclase, conserved domain
 IPR018297  Adenylyl cyclase class-4/guanylyl cyclase, conserved site
 IPR029787  Nucleotide cyclase
 IPR030672  Adenylate cyclase
 IPR032628  Adenylate cyclase, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003091 renal water homeostasis TAS
 biological_processGO:0006171 cAMP biosynthetic process IDA
 biological_processGO:0006182 cGMP biosynthetic process IBA
 biological_processGO:0007186 G-protein coupled receptor signaling pathway TAS
 biological_processGO:0007189 adenylate cyclase-activating G-protein coupled receptor signaling pathway TAS
 biological_processGO:0007190 activation of adenylate cyclase activity TAS
 biological_processGO:0007193 adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway TAS
 biological_processGO:0007212 dopamine receptor signaling pathway IDA
 biological_processGO:0009190 cyclic nucleotide biosynthetic process IEA
 biological_processGO:0010977 negative regulation of neuron projection development ISS
 biological_processGO:0034199 activation of protein kinase A activity TAS
 biological_processGO:0035556 intracellular signal transduction IEA
 biological_processGO:0035811 negative regulation of urine volume ISS
 biological_processGO:0071377 cellular response to glucagon stimulus TAS
 biological_processGO:0071380 cellular response to prostaglandin E stimulus IDA
 biological_processGO:0071870 cellular response to catecholamine stimulus IDA
 biological_processGO:0097746 regulation of blood vessel diameter IMP
 biological_processGO:1904117 cellular response to vasopressin ISS
 biological_processGO:1904322 cellular response to forskolin IDA
 cellular_componentGO:0005886 plasma membrane IBA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0008074 guanylate cyclase complex, soluble IBA
 cellular_componentGO:0016020 membrane ISS
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031226 intrinsic component of plasma membrane ISS
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004016 adenylate cyclase activity IDA
 molecular_functionGO:0004383 guanylate cyclase activity IBA
 molecular_functionGO:0005080 protein kinase C binding IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016829 lyase activity IEA
 molecular_functionGO:0016849 phosphorus-oxygen lyase activity IEA
 molecular_functionGO:0019901 protein kinase binding ISS
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Glucagon signaling in metabolic regulation
PKA activation
PKA activation in glucagon signalling
Adenylate cyclase activating pathway
Adenylate cyclase inhibitory pathway
Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
Adrenaline,noradrenaline inhibits insulin secretion
G alpha (s) signalling events
G alpha (i) signalling events
G alpha (z) signalling events
Vasopressin regulates renal water homeostasis via Aquaporins
Hedgehog off state


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001252 Muscular hypotonia "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators]
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 HP:0001284 Areflexia 
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001315 Reduced reflexes 
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 HP:0001349 Facial diplegia "Facial diplegia refers to simultaneous facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy)." [HPO:curators]
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 HP:0001376 Decreased mobility of joints 
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 HP:0002098 Respiratory distress 
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 HP:0002804 Arthrogryposis multiplex congenita 
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 HP:0003457 Abnormal EMG findings "Abnormal results of investigations using electromyography (EMG)." [HPO:curators]
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 HP:0200136 Oral-pharyngeal dysphagia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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