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

Gene Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	55811
Gene name Gene Name - the full gene name approved by the HGNC.	Adenylate cyclase 10
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ADCY10
Synonyms (NCBI Gene) Gene synonyms aliases	HCA2, HEL-S-7a, SAC, SACI, Sacy, hsAC
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q24.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

Protein

UniProt ID

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

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Hypercalciuria	familial idiopathic hypercalciuria, hypercalciuria, absorptive, 2, idiopathic inherited hypercalciuria	N/A	N/A	ClinVar, GenCC

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)