Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55811
Gene name	Adenylate cyclase 10
Gene symbol	ADCY10
Synonyms (NCBI Gene)	HCA2HEL-S-7aSACSACISacyhsAC
Chromosome	1
Chromosome location	1q24.2
Summary	The protein encoded by this gene belongs to a distinct class of adenylyl cyclases that is soluble and insensitive to G protein or forskolin regulation. Activity of this protein is regulated by bicarbonate. Variation at this gene has been observed in patie

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs779944215	GT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant

Show/Hide all (72)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IEA
GO:0003351	Process	Epithelial cilium movement involved in extracellular fluid movement	IMP	17591988
GO:0004016	Function	Adenylate cyclase activity	IBA
GO:0004016	Function	Adenylate cyclase activity	IDA	12609998, 15659711
GO:0004016	Function	Adenylate cyclase activity	IEA
GO:0004016	Function	Adenylate cyclase activity	NAS	9874775
GO:0004016	Function	Adenylate cyclase activity	TAS	9874775
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005634	Component	Nucleus	IDA	15659711
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	9874775
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	NAS	9874775
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IEA
GO:0006007	Process	Glucose catabolic process	IEA
GO:0006171	Process	CAMP biosynthetic process	IDA	12609998, 15659711
GO:0006171	Process	CAMP biosynthetic process	IEA
GO:0006171	Process	CAMP biosynthetic process	NAS	9874775
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	TAS	12609998
GO:0007283	Process	Spermatogenesis	IEA
GO:0007286	Process	Spermatid development	IEA
GO:0009190	Process	Cyclic nucleotide biosynthetic process	IEA
GO:0010613	Process	Positive regulation of cardiac muscle hypertrophy	IEA
GO:0010666	Process	Positive regulation of cardiac muscle cell apoptotic process	IEA
GO:0010917	Process	Negative regulation of mitochondrial membrane potential	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA	15659711
GO:0016020	Component	Membrane	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0030145	Function	Manganese ion binding	IEA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030426	Component	Growth cone	IEA
GO:0031514	Component	Motile cilium	IDA	17591988
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0045177	Component	Apical part of cell	IEA
GO:0045178	Component	Basal part of cell	IEA
GO:0045773	Process	Positive regulation of axon extension	IEA
GO:0045778	Process	Positive regulation of ossification	IEA
GO:0045819	Process	Positive regulation of glycogen catabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	15659711
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051117	Function	ATPase binding	IEA
GO:0051901	Process	Positive regulation of mitochondrial depolarization	IEA
GO:0060306	Process	Regulation of membrane repolarization	IEA
GO:0071890	Function	Bicarbonate binding	IDA	24567411
GO:0090724	Component	Central region of growth cone	IEA
GO:0097450	Component	Astrocyte end-foot	IEA
GO:0106028	Process	Neuron projection retraction	IEA
GO:0106135	Process	Negative regulation of cardiac muscle cell contraction	IEA
GO:1901524	Process	Regulation of mitophagy	IEA
GO:1903378	Process	Positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IEA
GO:1903427	Process	Negative regulation of reactive oxygen species biosynthetic process	IEA
GO:1903428	Process	Positive regulation of reactive oxygen species biosynthetic process	IEA
GO:1903955	Process	Positive regulation of protein targeting to mitochondrion	IEA
GO:1905461	Process	Positive regulation of vascular associated smooth muscle cell apoptotic process	IEA
GO:1990138	Process	Neuron projection extension	IEA
GO:1990535	Process	Neuron projection maintenance	IEA
GO:1990544	Process	Mitochondrial ATP transmembrane transport	IEA
GO:2001171	Process	Positive regulation of ATP biosynthetic process	IEA
GO:2001244	Process	Positive regulation of intrinsic apoptotic signaling pathway	IEA

MIM	HGNC	e!Ensembl
605205	21285	ENSG00000143199

Q96PN6

Protein name

Adenylate cyclase type 10 (EC 4.6.1.1) (AH-related protein) (Adenylate cyclase homolog) (Germ cell soluble adenylyl cyclase) (hsAC) (sAC) (Testicular soluble adenylyl cyclase)

Protein function

Catalyzes the formation of the signaling molecule cAMP (PubMed:12609998, PubMed:15659711, PubMed:24567411, PubMed:24616449, PubMed:25040695). May function as sensor that mediates responses to changes in cellular bicarbonate and CO(2) levels (Pub

PDB

4CLF , 4CLK , 4CLL , 4CLP , 4CLS , 4CLT , 4CLU , 4CLW , 4CLY , 4CLZ , 4CM0 , 4CM2 , 4OYA , 4OYB , 4OYI , 4OYM , 4OYO , 4OYP , 4OYW , 4OYX , 4OYZ , 4OZ2 , 4OZ3 , 4UST , 4USU , 4USV , 4USW , 5D0R , 5IV3 , 5IV4 , 7OVD , 8B75 , 8CNH , 8CO7 , 8COJ , 8COT , 8IL7

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00211	Guanylate_cyc	37 → 219	Adenylate and Guanylate cyclase catalytic domain	Domain
PF00211	Guanylate_cyc	285 → 463	Adenylate and Guanylate cyclase catalytic domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in airway epithelial cells and testis (at protein level) (PubMed:17591988). Weakly expressed in multiple tissues. Expressed in brain, heart, kidney, liver, lung, pancreas, peripheral blood leukocytes, placenta, skeletal muscle

Sequence

MNTPKEEFQDWPIVRIAAHLPDLIVYGHFSPERPFMDYFDGVLMFVDISGFTAMTEKFSS
AMYMDRGAEQLVEILNYHISAIVEKVLIFGGDILKFAGDALLALWRVERKQLKNIITVVI
KCSLEIHGLFETQEWEEGLDIRVKIGLAAGHISMLVFGDETHSHFLVIGQAVDDVRLAQN
MAQMNDVILSPNCWQLCDRSMIEIESVPDQRAVKVNFLKPPPNFNFDEFFTKCTTFMHYY
PSGEHKNLLRLACTLKPDPELEMSLQKYVMESILKQIDNKQLQGYLSELRPVTIVFVNLM
FEDQDKAEEIGPAIQDAYMHITSVLKIFQGQINKVFMFDKGCSFLCVFGFPGEKVPDELT
HALECAMDIFDFCSQVHKIQTVSIGVASGIVFCGIVGHTVRHEYTVIGQKVNLAARMMMY
YPGIVTCDSVTYNGSNLPAYFFKELPKKVMKGVADSGPLYQYWGRTEKVMFGMACLICNR
KEDYPLLGRNKEINYFMYTMKKFLISNSSQVLMYEGLPGYGKSQILMKIEYLAQGKNHRI
IAISLNKISFHQTFYTIQMFMANVLGLDTCKHYKERQTNLRNKVMTLLDEKFYCLLNDIF
HVQFPISREISRMSTLKKQKQLEILFMKILKLIVKEERIIFIIDEAQFVDSTSWRFMEKL
IRTLPIFIIMSLCPFVNIPCAAARAVIKNRNTTYIVIGAVQPNDISNKICLDLNVSCISK
ELDSYLGEGSCGIPFYCEELLKNLEHHEVLVFQQTESEEKTNRTWNNLFKYSIKLTEKLN
MVTLHSDKESEEVCHLTSGVRLKNLSPPTSLKEISLIQLDSMRLSHQMLVRCAAIIGLTF
TTELLFEILPCWNMKMMIKTLATLVESNIFYCFRNGKELQKALKQNDPSFEVHYRSLSLK
PSEGMDHGEEEQLRELENEVIECHRIRFCNPMMQKTAYELWLKDQRKAMHLKCARFLEED
AHRCDHCRGRDFIPYHHFTVNIRLNALDMDAIKKMAMSHGFKTEEKLILSNSEIPETSAF
FPENRSPEEIREKILNFFDHVLTKMKTSDEDIIPLESCQCEEILEIVILPLAHHFLALGE
NDKALYYFLEIASAYLIFCDNYMAYMYLNEGQKLLKTLKKDKSWSQTFESATFYSLKGEV
CFNMGQIVLAKKMLRKALKLLNRIFPYNLISLFLHIHVEKNRHFHYVNRQAQESPPPGKK
RLAQLYRQTVCLSLLWRIYSYSYLFHCKYYAHLAVMMQMNTALETQNCFQIIKAYLDYSL
YHHLAGYKGVWFKYEVMAMEHIFNLPLKGEGIEIVAYVAETLVFNKLIMGHLDLAIELGS
RALQMWALLQNPNRHYQSLCRLSRCLLLNSRYPQLIQVLGRLWELSVTQEHIFSKAFFYF
VCLDILLYSGFVYRTFEECLEFIHQYENNRILKFHSGLLLGLYSSVAIWYARLQEWDNFY
KFSNRAKNLLPRRTMTLTYYDGISRYMEGQVLHLQKQIKEQSENAQASGEELLKNLENLV
AQNTTGPVFCPRLYHLMAYVCILMGDGQKCGLFLNTALRLSETQGNILEKCWLNMNKESW
YSTSELKEDQWLQTILSLPSWEKIVAGRVNIQDLQKNKFLMRANTVDNHF

Sequence length

1610

Interactions

View interactions

	KEGG		Reactome
	Purine metabolism Metabolic pathways cAMP signaling pathway Apelin signaling pathway Circadian entrainment Thermogenesis Growth hormone synthesis, secretion and action		Hedgehog 'off' state

133

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal sperm morphology	Pathogenic	rs779944215	RCV000714269
Familial idiopathic hypercalciuria	Likely pathogenic; Pathogenic	rs1407377211, rs763059448, rs754094260	RCV001535865 RCV006249791 RCV004555403
Reduced sperm motility	Pathogenic	rs779944215	RCV000714269

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs112466731, rs77906219	RCV005914425 RCV005920865
ADCY10-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	rs201556412, rs145109141, rs200361556, rs56142912, rs201086008, rs754882215, rs149920420, rs576058947, rs148081594, rs140892164, rs145538707, rs61737676, rs114703390, rs1043496853, rs2525335470 View all (13 more)	RCV003955989 RCV003965958 RCV003956183 RCV003978469 RCV003968817 RCV004756348 RCV003978475 RCV003973673 RCV003898822 RCV003973571 RCV003906377 RCV003961304 RCV003410204 RCV003412506 RCV003403099 RCV003929315 RCV003964663 RCV003951525 RCV003976834 RCV003970662 RCV003972891 RCV003906088 RCV004756139 RCV003928510 RCV003928593 RCV003920792 RCV003963136 RCV003938570
Cervical cancer	Benign; Likely benign	rs112466731, rs77409274	RCV005914428 RCV005931673
Cholangiocarcinoma	Benign; Likely benign	rs1242661790, rs77906219	RCV005919640 RCV005920869
Clear cell carcinoma of kidney	Benign; Likely benign	rs112466731, rs141364875	RCV005914429 RCV005908557
Colorectal cancer	Benign; Likely benign	rs112466731	RCV005914430
Gastric cancer	Benign; Likely benign	rs141364875	RCV005908559
Hepatocellular carcinoma	Benign; Likely benign	rs112466731, rs77906219, rs77409274	RCV005914426 RCV005920866 RCV005931671
Lung cancer	Benign; Likely benign	rs112466731	RCV005914432
Male infertility	Uncertain significance	rs1000089911	RCV001283748
Malignant lymphoma, large B-cell, diffuse	Likely benign	rs77906219	RCV005920867
Malignant tumor of esophagus	Benign; Likely benign	rs112466731, rs7526804, rs77409274	RCV005914427 RCV005922103 RCV005931672
Melanoma	Benign; Likely benign	rs141364875	RCV005908560
Sarcoma	Benign; Likely benign	rs112466731, rs141364875	RCV005914431 RCV005908558
See cases	Uncertain significance	rs761630756	RCV003493886
Thymoma	Benign	rs7526804	RCV005922104
Uterine carcinosarcoma	Likely benign	rs77906219	RCV005920868

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Angioedemas Hereditary	Associate	2723063
Burkitt Lymphoma	Associate	3035497
Dehydrated Hereditary Stomatocytosis Pseudohyperkalemia and Perinatal Edema	Associate	29221444
Esophageal Squamous Cell Carcinoma	Associate	16832412
Hypercalciuria Absorptive 2	Associate	15659711
Hyperglycinemia Nonketotic	Associate	1671321
Hypertriglyceridemia	Associate	2989400
Hypogonadism	Associate	33574797
Infertility	Associate	33574797
Infertility Male	Associate	33574797
Kidney Diseases	Associate	2880682
Male Infertility with Large Headed Multiflagellar Polyploid Spermatozoa	Associate	33574797
Osteoporosis	Associate	22957024
Pancreatic Neoplasms	Associate	26854454
Plaque Atherosclerotic	Associate	29221444
Pseudohypoparathyroidism	Associate	2829196

ADCY10 (adenylate cyclase 10)