ADCY7

adenylate cyclase 7, the group of MicroRNA protein coding host genes|Adenylate cyclases

Basic information

Region (hg38): 16:50246136-50318135

Links

ENSG00000121281 ∙ NCBI:113 ∙ OMIM:600385 ∙ HGNC:238 ∙ Uniprot:P51828 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ADCY7 gene.

• Inborn genetic diseases (39 variants)
• not provided (11 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADCY7 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				4	4	8
missense			33	5		38
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					2	2
Total	0	0	33	9	6

Variants in ADCY7

This is a list of pathogenic ClinVar variants found in the ADCY7 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
16-50288289-C-T		not specified	Uncertain significance (Jan 17, 2024)
16-50288307-C-T		not specified	Likely benign (Apr 07, 2023)
16-50288318-G-A		not specified	Uncertain significance (Jan 10, 2022)
16-50290458-A-G		not specified	Uncertain significance (Dec 20, 2023)
16-50290463-T-C		not specified	Conflicting classifications of pathogenicity (May 23, 2023)
16-50290538-G-A		not specified	Uncertain significance (Jul 19, 2022)
16-50290540-C-T			Likely benign (Jul 01, 2022)
16-50290557-G-A		not specified	Uncertain significance (Aug 08, 2022)
16-50290568-G-T		not specified	Uncertain significance (Jan 17, 2024)
16-50291794-G-A		not specified	Likely benign (Oct 26, 2021)
16-50292692-T-C		not specified	Uncertain significance (Nov 17, 2022)
16-50292759-C-A		not specified	Uncertain significance (Jun 17, 2022)
16-50292782-G-A		not specified	Uncertain significance (Jul 17, 2023)
16-50298894-C-T			Benign (Jul 23, 2018)
16-50298947-A-G		not specified	Uncertain significance (Nov 07, 2022)
16-50298951-T-G		not specified	Uncertain significance (Jun 09, 2022)
16-50298984-C-T			Benign (Dec 27, 2017)
16-50298989-G-A		not specified	Uncertain significance (Aug 17, 2022)
16-50301086-G-A		not specified	Uncertain significance (Nov 10, 2022)
16-50301148-C-G		not specified	Uncertain significance (Mar 29, 2023)
16-50301181-G-A		not specified	Uncertain significance (Aug 16, 2021)
16-50304412-C-T		not specified	Uncertain significance (Jun 29, 2022)
16-50304447-C-T		not specified	Uncertain significance (Jul 11, 2023)
16-50304456-G-A		not specified	Uncertain significance (Aug 13, 2021)
16-50304475-G-T		not specified	Uncertain significance (Oct 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADCY7	protein_coding	protein_coding	ENST00000394697	25	71999

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.48e-7	1.00	125630	0	118	125748	0.000469

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.77	572	705	0.812	0.0000472	6981
Missense in Polyphen		188	306.55	0.61327		3022
Synonymous	-1.48	349	316	1.11	0.0000234	2217
Loss of Function	4.17	20	52.7	0.380	0.00000250	585

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000831	0.000831
Ashkenazi Jewish	0.00	0.00
East Asian	0.000381	0.000381
Finnish	0.000281	0.000277
European (Non-Finnish)	0.000544	0.000536
Middle Eastern	0.000381	0.000381
South Asian	0.000524	0.000523
Other	0.000831	0.000815

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Catalyzes the formation of cAMP in response to activation of G protein-coupled receptors (Probable). Functions in signaling cascades activated namely by thrombin and sphingosine 1- phosphate and mediates regulation of cAMP synthesis through synergistic action of the stimulatory G alpha protein with GNA13 (PubMed:23229509, PubMed:18541530). Also, during inflammation, mediates zymosan-induced increase intracellular cAMP, leading to protein kinase A pathway activation in order to modulate innate immune responses through heterotrimeric G proteins G(12/13) (By similarity). Functions in signaling cascades activated namely by dopamine and C5 alpha chain and mediates regulation of cAMP synthesis through synergistic action of the stimulatory G protein with G beta:gamma complex (PubMed:23842570, PubMed:23229509). Functions, through cAMP response regulation, to keep inflammation under control during bacterial infection by sensing the presence of serum factors, such as the bioactive lysophospholipid (LPA) that regulate LPS-induced TNF-alpha production. However, it is also required for the optimal functions of B and T cells during adaptive immune responses by regulating cAMP synthesis in both B and T cells (By similarity). {ECO:0000250|UniProtKB:P51829, ECO:0000269|PubMed:18541530, ECO:0000269|PubMed:23229509, ECO:0000269|PubMed:23842570, ECO:0000305|PubMed:18541530, ECO:0000305|PubMed:23229509}.
• Pathway: Inflammatory mediator regulation of TRP channels - Homo sapiens (human);Platelet activation - Homo sapiens (human);Cortisol synthesis and secretion - Homo sapiens (human);Relaxin signaling pathway - Homo sapiens (human);Aldosterone synthesis and secretion - Homo sapiens (human);Regulation of lipolysis in adipocytes - Homo sapiens (human);Oxytocin signaling pathway - Homo sapiens (human);Retrograde endocannabinoid signaling - Homo sapiens (human);GABAergic synapse - Homo sapiens (human);Glutamatergic synapse - Homo sapiens (human);Cushing,s syndrome - Homo sapiens (human);Oocyte meiosis - Homo sapiens (human);Dilated cardiomyopathy (DCM) - Homo sapiens (human);Thyroid hormone synthesis - Homo sapiens (human);Longevity regulating pathway - multiple species - Homo sapiens (human);GnRH signaling pathway - Homo sapiens (human);Bile secretion - Homo sapiens (human);Gap junction - Homo sapiens (human);Gastric acid secretion - Homo sapiens (human);Chemokine signaling pathway - Homo sapiens (human);HTLV-I infection - Homo sapiens (human);Circadian entrainment - Homo sapiens (human);Thermogenesis - Homo sapiens (human);Adrenergic signaling in cardiomyocytes - Homo sapiens (human);Longevity regulating pathway - Homo sapiens (human);Calcium signaling pathway - Homo sapiens (human);cAMP signaling pathway - Homo sapiens (human);Apelin signaling pathway - Homo sapiens (human);Estrogen signaling pathway - Homo sapiens (human);Vascular smooth muscle contraction - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);Salivary secretion - Homo sapiens (human);Pancreatic secretion - Homo sapiens (human);Phospholipase D signaling pathway - Homo sapiens (human);Purine metabolism - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);cGMP-PKG signaling pathway - Homo sapiens (human);Cholinergic synapse - Homo sapiens (human);Morphine addiction - Homo sapiens (human);Ovarian steroidogenesis - Homo sapiens (human);Insulin secretion - Homo sapiens (human);Melanogenesis - Homo sapiens (human);Progesterone-mediated oocyte maturation - Homo sapiens (human);Proton Pump Inhibitor Pathway, Pharmacodynamics;Beta-agonist/Beta-blocker Pathway, Pharmacodynamics;Myometrial Relaxation and Contraction Pathways;G Protein Signaling Pathways;Cannabinoid receptor signaling;Chemokine signaling pathway;Phosphodiesterases in neuronal function;Calcium Regulation in the Cardiac Cell;Signaling by GPCR;Signal Transduction;Glucagon signaling in metabolic regulation;GPCR Adenosine A2A receptor;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;Purine metabolism;Metabolism;PKA activation;PKA-mediated phosphorylation of CREB;G alpha (s) signalling events;Calmodulin induced events;CaM pathway;Transport of small molecules;Neuronal System;GPCR signaling-G alpha s Epac and ERK;Hedgehog ,off, state;GPCR signaling-G alpha s PKA and ERK;Signaling by Hedgehog;Purine nucleotides nucleosides metabolism;Adenylate cyclase inhibitory pathway;Inhibition of adenylate cyclase pathway;Activation of GABAB receptors;DAG and IP3 signaling;GABA B receptor activation;Ca-dependent events;PLC beta mediated events;GABA receptor activation;Neurotransmitter receptors and postsynaptic signal transmission;Transmission across Chemical Synapses;Adenylate cyclase activating pathway;G-protein mediated events;Opioid Signalling;G alpha (i) signalling events;G alpha (z) signalling events;PKA activation in glucagon signalling;GPCR signaling-G alpha i;Vasopressin regulates renal water homeostasis via Aquaporins;Aquaporin-mediated transport;Integration of energy metabolism;GPCR downstream signalling;Intracellular signaling by second messengers;LPA4-mediated signaling events;Regulation of nuclear beta catenin signaling and target gene transcription;LPA receptor mediated events;Endothelins (Consensus)

Recessive Scores

• pRec: 0.203

Intolerance Scores

• loftool: 0.0788
• rvis_EVS: -3.02
• rvis_percentile_EVS: 0.51

Haploinsufficiency Scores

• pHI: 0.481
• hipred: Y
• hipred_score: 0.706
• ghis: 0.596

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.711

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Adcy7
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); digestive/alimentary phenotype; immune system phenotype

Gene ontology

• Biological process: regulation of adaptive immune response;renal water homeostasis;cAMP biosynthetic process;G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;maternal process involved in female pregnancy;cellular response to lithium ion;cellular response to ethanol;cellular response to glucagon stimulus;negative regulation of cytokine production involved in inflammatory response
• Cellular component: plasma membrane;integral component of plasma membrane;integral component of membrane
• Molecular function: adenylate cyclase activity;ATP binding;metal ion binding