ADCY8 (adenylate cyclase 8) - Rat Genome Database

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Gene: ADCY8 (adenylate cyclase 8) Homo sapiens
Analyze
Symbol: ADCY8
Name: adenylate cyclase 8
RGD ID: 733733
HGNC Page HGNC
Description: Predicted to have several functions, including calcium- and calmodulin-responsive adenylate cyclase activity; calmodulin binding activity; and protein dimerization activity. Predicted to be involved in several processes, including G protein-coupled receptor signaling pathway; cellular response to organonitrogen compound; and regulation of synaptic plasticity. Predicted to colocalize with actin cytoskeleton.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AC8; ADCY3; adenylate cyclase 8 (brain); adenylate cyclase type 8; adenylate cyclase type VIII; adenylyl cyclase 8; adenylyl cyclase-8, brain; ATP pyrophosphate-lyase 8; ca(2+)/calmodulin-activated adenylyl cyclase; epididymis secretory sperm binding protein Li 172mP; HBAC1; HEL-S-172mP
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8130,780,301 - 131,040,909 (-)EnsemblGRCh38hg38GRCh38
GRCh388130,780,300 - 131,041,604 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378131,792,547 - 132,053,155 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368131,861,729 - 132,123,854 (-)NCBINCBI36hg18NCBI36
Build 348131,861,728 - 132,123,854NCBI
Celera8127,969,937 - 128,230,969 (-)NCBI
Cytogenetic Map8q24.22NCBI
HuRef8127,235,506 - 127,372,263 (-)NCBIHuRef
HuRef8127,112,105 - 127,216,470 (-)NCBIHuRef
CHM1_18131,833,662 - 132,093,872 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activation of adenylate cyclase activity  (TAS)
activation of protein kinase A activity  (ISS,TAS)
adenylate cyclase-activating G protein-coupled receptor signaling pathway  (IBA,TAS)
adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway  (TAS)
cAMP biosynthetic process  (IBA,IEA,ISO)
cAMP-mediated signaling  (ISO)
cellular response to calcium ion  (ISO,ISS)
cellular response to forskolin  (ISS)
cellular response to glucagon stimulus  (ISS,TAS)
cellular response to glucose stimulus  (ISS)
cellular response to morphine  (ISS)
cyclic nucleotide biosynthetic process  (IEA)
G protein-coupled opioid receptor signaling pathway  (ISS)
G protein-coupled receptor signaling pathway  (TAS)
glucose homeostasis  (ISS)
glucose mediated signaling pathway  (ISS)
intracellular signal transduction  (IEA)
learning or memory  (TAS)
locomotory behavior  (ISS)
long-term memory  (IEA,ISO)
memory  (ISS)
modulation of chemical synaptic transmission  (ISO)
negative regulation of inflammatory response to antigenic stimulus  (TAS)
neuroinflammatory response  (ISS)
positive regulation of CREB transcription factor activity  (ISS)
positive regulation of cytosolic calcium ion concentration  (ISS)
positive regulation of insulin secretion involved in cellular response to glucose stimulus  (ISS)
positive regulation of long-term synaptic depression  (ISS)
positive regulation of long-term synaptic potentiation  (ISS)
positive regulation of synaptic plasticity  (ISS)
protein complex oligomerization  (ISS)
protein homooligomerization  (ISS)
regulation of cellular response to stress  (ISS)
regulation of cytosolic calcium ion concentration  (ISS)
renal water homeostasis  (TAS)
response to organic cyclic compound  (ISO)
signal transduction  (TAS)

References

Additional References at PubMed
PMID:1427768   PMID:1715695   PMID:2165385   PMID:7937899   PMID:8076676   PMID:8163524   PMID:8476432   PMID:8663304   PMID:9417641   PMID:10075700   PMID:10089566   PMID:10807185  
PMID:10808179   PMID:11076863   PMID:11299302   PMID:11457491   PMID:11884542   PMID:12477932   PMID:12503609   PMID:12626323   PMID:12890691   PMID:14993377   PMID:16258073   PMID:16613843  
PMID:17110338   PMID:17586501   PMID:18163389   PMID:18480272   PMID:19029295   PMID:19156168   PMID:19171672   PMID:19490893   PMID:19691954   PMID:20379614   PMID:20410303   PMID:20675917  
PMID:20677014   PMID:21046358   PMID:21116278   PMID:21873635   PMID:22494970   PMID:23200849   PMID:23278386   PMID:24677629   PMID:24709693   PMID:25403481   PMID:26480920   PMID:27651839  
PMID:30746562  


Genomics

Comparative Map Data
ADCY8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8130,780,301 - 131,040,909 (-)EnsemblGRCh38hg38GRCh38
GRCh388130,780,300 - 131,041,604 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378131,792,547 - 132,053,155 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368131,861,729 - 132,123,854 (-)NCBINCBI36hg18NCBI36
Build 348131,861,728 - 132,123,854NCBI
Celera8127,969,937 - 128,230,969 (-)NCBI
Cytogenetic Map8q24.22NCBI
HuRef8127,235,506 - 127,372,263 (-)NCBIHuRef
HuRef8127,112,105 - 127,216,470 (-)NCBIHuRef
CHM1_18131,833,662 - 132,093,872 (-)NCBICHM1_1
Adcy8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391564,570,884 - 64,794,145 (-)NCBIGRCm39mm39
GRCm39 Ensembl1564,568,933 - 64,794,145 (-)Ensembl
GRCm381564,699,035 - 64,922,296 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1564,697,084 - 64,922,296 (-)EnsemblGRCm38mm10GRCm38
MGSCv371564,530,597 - 64,753,858 (-)NCBIGRCm37mm9NCBIm37
MGSCv361564,528,707 - 64,751,833 (-)NCBImm8
Celera1566,221,302 - 66,448,865 (-)NCBICelera
Cytogenetic Map15D1NCBI
cM Map1529.03NCBI
Adcy8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2796,417,310 - 96,665,911 (-)NCBI
Rnor_6.0 Ensembl7105,353,913 - 105,592,804 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07105,353,883 - 105,593,372 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07105,301,826 - 105,541,014 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47101,957,807 - 102,210,346 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17101,992,036 - 102,244,576 (-)NCBI
Celera792,997,741 - 93,245,305 (-)NCBICelera
Cytogenetic Map7q33NCBI
Adcy8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554615,497,628 - 5,725,574 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554615,497,708 - 5,725,574 (-)NCBIChiLan1.0ChiLan1.0
ADCY8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18130,399,223 - 130,661,073 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8130,398,288 - 130,661,073 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08127,418,407 - 127,681,217 (-)NCBIMhudiblu_PPA_v0panPan3
ADCY8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11327,723,530 - 27,937,821 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1327,723,530 - 27,937,734 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1327,690,009 - 27,910,417 (-)NCBI
ROS_Cfam_1.01328,068,919 - 28,289,497 (-)NCBI
UMICH_Zoey_3.11327,784,095 - 28,006,367 (-)NCBI
UNSW_CanFamBas_1.01327,904,105 - 28,118,318 (-)NCBI
UU_Cfam_GSD_1.01328,205,442 - 28,426,573 (-)NCBI
Adcy8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530310,405,531 - 10,621,769 (+)NCBI
SpeTri2.0NW_00493647017,831,644 - 18,047,868 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ADCY8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl49,644,589 - 9,866,534 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.149,645,398 - 9,867,065 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.249,777,859 - 9,968,857 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ADCY8
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18125,269,396 - 125,535,806 (-)NCBI
ChlSab1.1 Ensembl8125,269,736 - 125,533,015 (-)Ensembl
Adcy8
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473524,891,803 - 25,149,817 (+)NCBI

Position Markers
D8S1765  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378132,015,406 - 132,015,532UniSTSGRCh37
Build 368132,084,588 - 132,084,714RGDNCBI36
Celera8128,193,527 - 128,193,663RGD
Cytogenetic Map8q24UniSTS
HuRef8127,334,827 - 127,334,963UniSTS
Marshfield Genetic Map8144.36UniSTS
Marshfield Genetic Map8144.36RGD
Genethon Genetic Map8143.2UniSTS
deCODE Assembly Map8141.09UniSTS
SHGC-36821  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378131,792,629 - 131,792,705UniSTSGRCh37
Build 368131,861,811 - 131,861,887RGDNCBI36
Celera8127,970,021 - 127,970,097RGD
Cytogenetic Map8q24UniSTS
HuRef8127,112,191 - 127,112,267UniSTS
GeneMap99-G3 RH Map84071.0UniSTS
RH122757  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378131,965,996 - 131,966,309UniSTSGRCh37
Build 368132,035,178 - 132,035,491RGDNCBI36
Celera8128,144,087 - 128,144,400RGD
Cytogenetic Map8q24UniSTS
HuRef8127,285,467 - 127,285,780UniSTS
TNG Radiation Hybrid Map863181.0UniSTS
G59968  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378131,958,280 - 131,958,393UniSTSGRCh37
Build 368132,027,462 - 132,027,575RGDNCBI36
Celera8128,136,325 - 128,136,438RGD
Cytogenetic Map8q24UniSTS
HuRef8127,277,751 - 127,277,864UniSTS
TNG Radiation Hybrid Map863177.0UniSTS
SHGC-147478  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378132,014,791 - 132,015,129UniSTSGRCh37
Build 368132,083,973 - 132,084,311RGDNCBI36
Celera8128,192,912 - 128,193,250RGD
Cytogenetic Map8q24UniSTS
HuRef8127,334,212 - 127,334,550UniSTS
TNG Radiation Hybrid Map863189.0UniSTS
SHGC-148407  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378132,044,491 - 132,044,835UniSTSGRCh37
Build 368132,113,673 - 132,114,017RGDNCBI36
Celera8128,222,625 - 128,222,969RGD
Cytogenetic Map8q24UniSTS
HuRef8127,363,917 - 127,364,261UniSTS
TNG Radiation Hybrid Map863208.0UniSTS
SHGC-85246  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378132,011,543 - 132,011,844UniSTSGRCh37
Build 368132,080,725 - 132,081,026RGDNCBI36
Celera8128,189,664 - 128,189,965RGD
Cytogenetic Map8q24UniSTS
HuRef8127,330,964 - 127,331,265UniSTS
TNG Radiation Hybrid Map863189.0UniSTS
G54644  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378131,958,202 - 131,958,402UniSTSGRCh37
Celera8128,136,247 - 128,136,447UniSTS
Cytogenetic Map8q24UniSTS
HuRef8127,277,673 - 127,277,873UniSTS
D8S1208  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q24UniSTS
HuRef8127,278,566 - 127,278,633UniSTS
D8S1092  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q24UniSTS
HuRef8127,349,228 - 127,349,431UniSTS
Whitehead-YAC Contig Map8 UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:167
Count of miRNA genes:152
Interacting mature miRNAs:157
Transcripts:ENST00000286355, ENST00000377928, ENST00000522949
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High
Medium 8 4 4 48 180 6 18 20 27
Low 23 11 39 24 11 15 1256 36 2606 52 377 176 9 35 641
Below cutoff 1475 1338 804 295 441 157 2058 1591 779 189 546 744 139 700 1564

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000286355   ⟹   ENSP00000286355
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8130,780,301 - 131,040,909 (-)Ensembl
RefSeq Acc Id: ENST00000377928   ⟹   ENSP00000367161
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8130,780,390 - 131,040,333 (-)Ensembl
RefSeq Acc Id: ENST00000522949   ⟹   ENSP00000428010
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8130,903,772 - 130,990,865 (-)Ensembl
RefSeq Acc Id: NM_001115   ⟹   NP_001106
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388130,780,301 - 131,040,909 (-)NCBI
GRCh378131,792,546 - 132,053,012 (-)NCBI
Build 368131,861,729 - 132,123,854 (-)NCBI Archive
HuRef8127,235,506 - 127,372,263 (-)ENTREZGENE
HuRef8127,112,105 - 127,216,470 (-)NCBI
CHM1_18131,833,662 - 132,093,872 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005250769   ⟹   XP_005250826
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388130,780,383 - 131,040,712 (-)NCBI
GRCh378131,792,546 - 132,053,012 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716501   ⟹   XP_006716564
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388130,780,300 - 131,040,916 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013006   ⟹   XP_016868495
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388130,780,300 - 131,040,678 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013007   ⟹   XP_016868496
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388130,894,071 - 131,041,604 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001106   ⟸   NM_001115
- UniProtKB: P40145 (UniProtKB/Swiss-Prot),   Q4F7X0 (UniProtKB/TrEMBL),   A0A0K0K1K3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005250826   ⟸   XM_005250769
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006716564   ⟸   XM_006716501
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016868495   ⟸   XM_017013006
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016868496   ⟸   XM_017013007
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000367161   ⟸   ENST00000377928
RefSeq Acc Id: ENSP00000286355   ⟸   ENST00000286355
RefSeq Acc Id: ENSP00000428010   ⟸   ENST00000522949
Protein Domains
Guanylate cyclase

Promoters
RGD ID:7214193
Promoter ID:EPDNEW_H12842
Type:initiation region
Name:ADCY8_1
Description:adenylate cyclase 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388131,041,538 - 131,041,598EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q24.21-24.22(chr8:129176782-134170188)x1 copy number loss See cases [RCV000050751] Chr8:129176782..134170188 [GRCh38]
Chr8:130189028..135182431 [GRCh37]
Chr8:130258210..135251613 [NCBI36]
Chr8:8q24.21-24.22
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.21-24.23(chr8:126626164-137169427)x1 copy number loss See cases [RCV000054306] Chr8:126626164..137169427 [GRCh38]
Chr8:127638409..138181670 [GRCh37]
Chr8:127707591..138250852 [NCBI36]
Chr8:8q24.21-24.23
pathogenic
NM_001115.2(ADCY8):c.3488G>A (p.Gly1163Glu) single nucleotide variant Malignant melanoma [RCV000068148] Chr8:130780658 [GRCh38]
Chr8:131792904 [GRCh37]
Chr8:131862086 [NCBI36]
Chr8:8q24.22
not provided
NM_001115.2(ADCY8):c.2595G>A (p.Met865Ile) single nucleotide variant Malignant melanoma [RCV000068149] Chr8:130836357 [GRCh38]
Chr8:131848603 [GRCh37]
Chr8:131917785 [NCBI36]
Chr8:8q24.22
not provided
NM_001115.2(ADCY8):c.2391C>T (p.Phe797=) single nucleotide variant Malignant melanoma [RCV000068150] Chr8:130849623 [GRCh38]
Chr8:131861869 [GRCh37]
Chr8:131931051 [NCBI36]
Chr8:8q24.22
not provided
NM_001115.2(ADCY8):c.2333T>A (p.Ile778Asn) single nucleotide variant Malignant melanoma [RCV000068151] Chr8:130849681 [GRCh38]
Chr8:131861927 [GRCh37]
Chr8:131931109 [NCBI36]
Chr8:8q24.22
not provided
NM_001115.2(ADCY8):c.1996G>A (p.Glu666Lys) single nucleotide variant Malignant melanoma [RCV000068152] Chr8:130884677 [GRCh38]
Chr8:131896923 [GRCh37]
Chr8:131966105 [NCBI36]
Chr8:8q24.22
not provided
NM_001115.2(ADCY8):c.1300G>A (p.Glu434Lys) single nucleotide variant Malignant melanoma [RCV000068153] Chr8:130943404 [GRCh38]
Chr8:131955650 [GRCh37]
Chr8:132024832 [NCBI36]
Chr8:8q24.22
not provided
NM_001115.2(ADCY8):c.1158G>A (p.Met386Ile) single nucleotide variant Malignant melanoma [RCV000068154] Chr8:130951951 [GRCh38]
Chr8:131964197 [GRCh37]
Chr8:132033379 [NCBI36]
Chr8:8q24.22
not provided
NM_001115.2(ADCY8):c.993G>A (p.Met331Ile) single nucleotide variant Malignant melanoma [RCV000068155] Chr8:130990510 [GRCh38]
Chr8:132002756 [GRCh37]
Chr8:132071938 [NCBI36]
Chr8:8q24.22
not provided
NM_001115.2(ADCY8):c.771C>T (p.Ile257=) single nucleotide variant Malignant melanoma [RCV000068156] Chr8:131039563 [GRCh38]
Chr8:132051809 [GRCh37]
Chr8:132120991 [NCBI36]
Chr8:8q24.22
not provided
NM_001115.2(ADCY8):c.3537C>T (p.Phe1179=) single nucleotide variant Malignant melanoma [RCV000061755] Chr8:130780609 [GRCh38]
Chr8:131792855 [GRCh37]
Chr8:131862037 [NCBI36]
Chr8:8q24.22
not provided
NM_001115.2(ADCY8):c.2382G>A (p.Leu794=) single nucleotide variant Malignant melanoma [RCV000061756] Chr8:130849632 [GRCh38]
Chr8:131861878 [GRCh37]
Chr8:131931060 [NCBI36]
Chr8:8q24.22
not provided
NM_001115.2(ADCY8):c.2041G>A (p.Asp681Asn) single nucleotide variant Malignant melanoma [RCV000061757] Chr8:130884632 [GRCh38]
Chr8:131896878 [GRCh37]
Chr8:131966060 [NCBI36]
Chr8:8q24.22
not provided
NM_001115.2(ADCY8):c.961-9428T>A single nucleotide variant Lung cancer [RCV000107041] Chr8:130999970 [GRCh38]
Chr8:132012216 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_001115.2(ADCY8):c.960+23203T>C single nucleotide variant Lung cancer [RCV000107042] Chr8:131016171 [GRCh38]
Chr8:132028417 [GRCh37]
Chr8:8q24.22
uncertain significance
GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3 copy number gain See cases [RCV000133621] Chr8:130115518..141228210 [GRCh38]
Chr8:131127764..142238309 [GRCh37]
Chr8:131196946..142307491 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.22(chr8:132005210-133698781)x3 copy number gain See cases [RCV000515570] Chr8:132005210..133698781 [GRCh37]
Chr8:8q24.22
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.21-24.22(chr8:128295596-133200773)x1 copy number loss See cases [RCV000448960] Chr8:128295596..133200773 [GRCh37]
Chr8:8q24.21-24.22
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.21-24.22(chr8:131025817-133947836)x3 copy number gain See cases [RCV000511900] Chr8:131025817..133947836 [GRCh37]
Chr8:8q24.21-24.22
uncertain significance
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.22(chr8:131932152-133020830)x3 copy number gain See cases [RCV000512493] Chr8:131932152..133020830 [GRCh37]
Chr8:8q24.22
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.22(chr8:131932152-133020677)x3 copy number gain not provided [RCV000683003] Chr8:131932152..133020677 [GRCh37]
Chr8:8q24.22
likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22(chr8:131847917-131852693)x0 copy number loss not provided [RCV000747849] Chr8:131847917..131852693 [GRCh37]
Chr8:8q24.22
benign
GRCh37/hg19 8q24.22(chr8:131851268-131852693)x0 copy number loss not provided [RCV000747850] Chr8:131851268..131852693 [GRCh37]
Chr8:8q24.22
benign
GRCh37/hg19 8q24.22(chr8:131851268-131854234)x0 copy number loss not provided [RCV000747851] Chr8:131851268..131854234 [GRCh37]
Chr8:8q24.22
benign
NM_001115.3(ADCY8):c.2976G>A (p.Ala992=) single nucleotide variant not provided [RCV000967101] Chr8:130800510 [GRCh38]
Chr8:131812756 [GRCh37]
Chr8:8q24.22
benign
NM_001115.3(ADCY8):c.2949G>A (p.Val983=) single nucleotide variant not provided [RCV000925791] Chr8:130800537 [GRCh38]
Chr8:131812783 [GRCh37]
Chr8:8q24.22
likely benign
NM_001115.3(ADCY8):c.945C>T (p.Val315=) single nucleotide variant not provided [RCV000967102] Chr8:131039389 [GRCh38]
Chr8:132051635 [GRCh37]
Chr8:8q24.22
benign
GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1 copy number loss not provided [RCV001006144] Chr8:126892814..143750028 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)x1 copy number loss not provided [RCV000848438] Chr8:124120772..135265846 [GRCh37]
Chr8:8q24.13-24.22
pathogenic
GRCh37/hg19 8q24.22(chr8:131932469-133020848)x3 copy number gain not provided [RCV000849908] Chr8:131932469..133020848 [GRCh37]
Chr8:8q24.22
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
NM_001115.3(ADCY8):c.1551C>T (p.Cys517=) single nucleotide variant not provided [RCV000897910] Chr8:130909797 [GRCh38]
Chr8:131922043 [GRCh37]
Chr8:8q24.22
likely benign
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22(chr8:131915430-135240074)x1 copy number loss not provided [RCV000845974] Chr8:131915430..135240074 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_001115.3(ADCY8):c.3612T>C (p.Asn1204=) single nucleotide variant not provided [RCV000885382] Chr8:130780534 [GRCh38]
Chr8:131792780 [GRCh37]
Chr8:8q24.22
benign
NM_001115.3(ADCY8):c.3582G>A (p.Ala1194=) single nucleotide variant not provided [RCV000885383] Chr8:130780564 [GRCh38]
Chr8:131792810 [GRCh37]
Chr8:8q24.22
benign
GRCh37/hg19 8q24.22(chr8:131902859-132863217)x3 copy number gain not provided [RCV001006148] Chr8:131902859..132863217 [GRCh37]
Chr8:8q24.22
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:239 AgrOrtholog
COSMIC ADCY8 COSMIC
Ensembl Genes ENSG00000155897 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000286355 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000367161 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000428010 UniProtKB/TrEMBL
Ensembl Transcript ENST00000286355 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000377928 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000522949 UniProtKB/TrEMBL
Gene3D-CATH 3.30.70.1230 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000155897 GTEx
HGNC ID HGNC:239 ENTREZGENE
Human Proteome Map ADCY8 Human Proteome Map
InterPro A/G_cyclase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A/G_cyclase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AC_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Adcy UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Adcy_conserved_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide_cyclase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:114 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 114 ENTREZGENE
OMIM 103070 OMIM
Pfam AC_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DUF1053 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Guanylate_cyc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB ADCY8 RGD, PharmGKB
PIRSF Ade_cyc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE GUANYLATE_CYCLASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GUANYLATE_CYCLASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CYCc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF55073 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0K0K1K3 ENTREZGENE, UniProtKB/TrEMBL
  ADCY8_HUMAN UniProtKB/Swiss-Prot
  E5RFR2_HUMAN UniProtKB/TrEMBL
  E7EVL1_HUMAN UniProtKB/TrEMBL
  L8E7I7_HUMAN UniProtKB/TrEMBL
  P40145 ENTREZGENE
  Q4F7X0 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-28 ADCY8  adenylate cyclase 8  ADCY8  adenylate cyclase 8 (brain)  Symbol and/or name change 5135510 APPROVED