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ADCY6 - adenylate cyclase 6 Gene

Also Known as AC6; LCCS8

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 112

About ADCY6

Cytogenetic location: 12q13.12 Genomic coordinates (GRCh38): 12:48,766,194-48,789,961 (from NCBI)

This gene has 9 transcripts (splice variants), 271 orthologues, 17 paralogues and is associated with 2 phenotypes. Ubiquitous expression in fat (RPKM 25.0), heart (RPKM 17.1) and 23 other tissues.

Summary

This gene encodes a member of the adenylyl cyclase family of proteins, which are required for the synthesis of cyclic AMP. All members of this family have an intracellular N-terminus, a tandem repeat of six transmembrane domains separated by a cytoplasmic loop, and a C-terminal cytoplasmic domain. The two cytoplasmic regions bind ATP and form the catalytic core of the protein. Adenylyl cyclases are important effectors of transmembrane signaling pathways and are regulated by the activity of G protein coupled receptor signaling. This protein belongs to a small subclass of adenylyl cyclase proteins that are functionally related and are inhibited by protein kinase A, calcium ions and nitric oxide. A mutation in this gene is associated with arthrogryposis multiplex congenita. [provided by RefSeq, May 2015]

ADCY6 Products (7)

mRNA	Protein	Name
NM_001390830.1	NP_001377759.1	adenylate cyclase type 6 isoform 2
NM_001390831.2	NP_001377760.1	adenylate cyclase type 6 isoform 1
NM_001412819.1	NP_001399748.1	adenylate cyclase type 6 isoform 1
NM_001412820.1	NP_001399749.1	adenylate cyclase type 6 isoform 1
NM_001412821.1	NP_001399750.1	adenylate cyclase type 6 isoform 1
NM_001412822.1	NP_001399751.1	adenylate cyclase type 6 isoform 1
NM_015270.5	NP_056085.1	adenylate cyclase type 6 isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables adenylate cyclase activity	IDA IDA: Inferred from direct assay	17916776	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17081159	GOA
enables protein kinase C binding	IDA IDA: Inferred from direct assay	17081159	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA IDA: Inferred from direct assay	17916776	GOA
involved in adenylate cyclase-activating dopamine receptor signaling pathway	IDA IDA: Inferred from direct assay	18403039	GOA
involved in blood vessel diameter maintenance	IMP IMP: Inferred from mutant phenotype	17916776	GOA
involved in cAMP biosynthetic process	IDA IDA: Inferred from direct assay	17916776	GOA
involved in cellular response to catecholamine stimulus	IDA IDA: Inferred from direct assay	18403039	GOA
involved in cellular response to forskolin	IDA IDA: Inferred from direct assay	17916776	GOA
involved in cellular response to prostaglandin E stimulus	IDA IDA: Inferred from direct assay	18403039	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

ADCY6 Protein Structure

Guanylate_cyc

DUF1053

Guanylate_cyc

0
200
400
600
800
1000
1168 a.a.

Protein Preferred Names	Protein Names
adenylate cyclase type 6	ATP pyrophosphate-lyase 6

Related Diseases

Diseases	Alias
Lethal Congenital Contracture Syndrome 8	LCCS8 Contracture Syndrome, Lethal, Congenital, Type 8
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Lethal Congenital Contracture Syndrome	Lccs Lethal Congenital Contracture Syndrome 1
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Congenital Muscular Dystrophy Due To Integrin Alpha-7 Deficiency Muscular Dystrophy, Congenital, Due To Itga7 Deficiency Congenital Muscular Dystrophy With Integrin Alpha-7 Deficiency Congenital Muscular Dystrophy With Itga7 Deficiency Congenital Myopathy Due To Integrin Alpha-7 Deficiency Myopathy, Congenital, Due To Integrin Alpha-7 Deficiency Muscular Dystrophy Congenital Due To Integrin Alpha-7 Deficiency MDCI Dystrophy, Muscular, Congenital, Due To Integrin Alpha-7 Deficiency
Polycystic Liver Disease	Autosomal Dominant Polycystic Liver Disease Isolated Polycystic Liver Disease Pcld Congenital Cystic Liver Disease Congenital Hepatic Cyst Fibrocystic Liver Disease Isolated Autosomal Dominant Polycystic Liver Disease Adpcld Liver Disease, Polycystic Multiple Cysts Of Liver Pld - [Polycystic Liver Disease] Polycystic Liver Disorder Polycystic Liver Congenital Polycystic Disease Of Liver Congenital Polycystic Liver Disease
Nephrogenic Diabetes Insipidus	Vasopressin-Resistant Diabetes Insipidus Diabetes Insipidus, Nephrogenic Diabetes Insipidus Nephrogenic Congenital Nephrogenic Diabetes Insipidus Adh Resistant Diabetes Insipidus Diabetes Insipidus Nephrogenic X-Linked Diabetes Insipidus Nephrogenic Type 1 Adh-Resistant Diabetes Insipidus Diabetes Insipidus Renalis Ndi Renal Diabetes Insipidus Familial Nephrogenic Diabetes Antidiuretic-Hormone-Resistant Diabetes Insipidus Adiuretin-Resistant Diabetes Insipidus Ndi - [Nephrogenic Diabetes Insipidus] Diabetes Tenuifluus Adh - [Antidiuretic-Hormone] Resistant Diabetes Insipidus Hereditary Nephrogenic Diabetes Insipidus Familial Nephrogenic Diabetes Insipidus Primary Nephrogenic Diabetes Insipidus
Autosomal Dominant Polycystic Kidney Disease	Polycystic Kidney Disease, Adult Type Adpkd Polycystic Kidney Diseases Polycystic Kidney, Autosomal Dominant Congenital Biliary Ectasias Polycystic Kidney And Hepatic Disease 1 Polycystic Kidney Disease, Autosomal Dominant Kidney, Polycystic, Disease, Autosomal Dominant Adult Polycystic Kidney Disease Polycystic Kidney, Adult Type Apckd - [Autosomal Polycystic Kidney Disease]
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Autosomal Recessive Polycystic Kidney Disease Arpkd Polycystic Kidney Disease, Autosomal Recessive Polycystic Kidney And Hepatic Disease 1 Pkhd1 PKD4 Polycystic Kidney Disease 4 With Or Without Hepatic Disease Polycystic Kidney Disease, Infantile, Type I Polycystic Kidney Disease, Infantile Type Polycystic Kidney, Autosomal Recessive Pkd3, Formerly Polycystic Kidney Disease 4, With Or Without Hepatic Disease Arpkd/Chf Ar-Pkd Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease Infantile Polycystic Kidney Disease Type I Pkd3 Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease Polycystic Kidney Disease 3, Autosomal Dominant
Cystic Kidney Disease	Renal Cyst Simple Renal Cyst Kidney Cysts Kidney Diseases, Cystic Renal Cysts Kidney Cyst Cystic Kidney Congenital Cystic Kidney Disease Cystic Kidney Diseases Bosniak 1 Cyst
Polycystic Kidney Disease	Polycystic Kidney Diseases Pkd Polycystic Renal Disease Kidney Disease, Polycystic Polycystic Kidney, Autosomal Dominant

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00332	ADCY6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ADCY6	VGNC	VGNC:37623
Felis catus	ADCY6	VGNC	VGNC:59619
Mus musculus	ADCY6	MGD	MGI:87917
Bos taurus	ADCY6	VGNC	VGNC:25647
Macaca mulatta	ADCY6	VGNC	VGNC:69514
Rattus norvegicus	ADCY6	RGD	RGD:2035
Others	ADCY6	NCBI