ADCY10 (adenylate cyclase 10)

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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HCA2
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
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs779944215 GT>- Pathogenic Coding sequence variant, frameshift variant, non coding transcript variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(28)
GO ID Ontology Definition Evidence Reference
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 21873635
GO:0004016 Function Adenylate cyclase activity IDA 12609998, 15659711
GO:0004016 Function Adenylate cyclase activity NAS 9874775
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605205 21285 ENSG00000143199
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Purine metabolism
Metabolic pathways
cAMP signaling pathway
Apelin signaling pathway
Circadian entrainment
Thermogenesis
Growth hormone synthesis, secretion and action 		  Hedgehog 'off' state
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal
Disease term Disease name dbSNP ID References
Hypercalciuria Familial idiopathic hypercalciuria, Idiopathic hypercalciuria rs121908542, rs1588844639 11932268
Nephronophthisis NEPHROLITHIASIS, CALCIUM OXALATE rs62635288, rs267607116, rs201893408, rs267607117, rs202149403, rs118204032, rs121918244, rs750962965, rs1474058708, rs119456959, rs119456960, rs119456961, rs119456962, rs267606916, rs137852856
View all (190 more)
Osteoporosis Osteoporosis rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Show/Hide Text Mining Associations (16)
Associations from Text Mining
Disease Name Relationship Type References
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