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Aliases for ADCY8 Gene

Aliases for ADCY8 Gene

  • Adenylate Cyclase 8 2 3 5
  • Ca(2+)/Calmodulin-Activated Adenylyl Cyclase 3 4
  • Adenylate Cyclase 8 (Brain) 2 3
  • Adenylate Cyclase Type VIII 3 4
  • ATP Pyrophosphate-Lyase 8 3 4
  • Adenylyl Cyclase 8 3 4
  • EC 4.6.1.1 4 61
  • AC8 3 4
  • Epididymis Secretory Sperm Binding Protein Li 172mP 3
  • Adenylyl Cyclase-8, Brain 3
  • Adenylate Cyclase Type 8 3
  • HEL-S-172mP 3
  • HBAC1 3
  • ADCY3 3

External Ids for ADCY8 Gene

Previous HGNC Symbols for ADCY8 Gene

  • ADCY3

Previous GeneCards Identifiers for ADCY8 Gene

  • GC08M130592
  • GC08M131808
  • GC08M131463
  • GC08M131749
  • GC08M131725
  • GC08M131861
  • GC08M127112

Summaries for ADCY8 Gene

Entrez Gene Summary for ADCY8 Gene

  • Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. The enzymatic activity is under the control of several hormones, and different polypeptides participate in the transduction of the signal from the receptor to the catalytic moiety. Stimulatory or inhibitory receptors (Rs and Ri) interact with G proteins (Gs and Gi) that exhibit GTPase activity and they modulate the activity of the catalytic subunit of the adenylyl cyclase [provided by RefSeq, Jul 2008]

GeneCards Summary for ADCY8 Gene

ADCY8 (Adenylate Cyclase 8) is a Protein Coding gene. Diseases associated with ADCY8 include Wolfram Syndrome. Among its related pathways are Signaling in Gap Junctions and Development Endothelin-1/EDNRA signaling. GO annotations related to this gene include nucleotide binding and adenylate cyclase activity. An important paralog of this gene is ADCY5.

UniProtKB/Swiss-Prot for ADCY8 Gene

  • This is a membrane-bound, calcium-stimulable adenylyl cyclase. May be involved in learning, in memory and in drug dependence (By similarity).

Tocris Summary for ADCY8 Gene

  • Adenylyl Cyclases (AC) are a group of enzymes that convert adenosine-5'-triphosphate (ATP) into 3',5'-adenosine monophosphate (cyclic AMP/cAMP) and pyrophosphate. There are ten different mammalian isoforms of adenylyl cylase; nine of which are membrane-bound.

Gene Wiki entry for ADCY8 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADCY8 Gene

Genomics for ADCY8 Gene

Regulatory Elements for ADCY8 Gene

Enhancers for ADCY8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G130852 0.5 FANTOM5 3.9 +190.0 190026 0.4 CTCF SMARCA4 RAD21 ADCY8 LOC105375762 LOC105375761
GH08G131043 0.6 ENCODE 0.7 +0.2 237 0.2 RNF2 SUZ12 POLR2A CREB1 RBBP5 EZH2 LOC105375760 ADCY8
GH08G131042 0.5 ENCODE 0.7 0.0 -24 0.2 POLR2A CREB1 RBBP5 ATF2 EZH2 ADCY8 PIR45591
GH08G131041 0.5 ENCODE 0.7 +0.7 667 0.1 RNF2 SUZ12 CBX2 RBBP5 EZH2 ADCY8 LOC105375760
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ADCY8 on UCSC Golden Path with GeneCards custom track

Genomic Location for ADCY8 Gene

Chromosome:
8
Start:
130,780,300 bp from pter
End:
131,042,426 bp from pter
Size:
262,127 bases
Orientation:
Minus strand

Genomic View for ADCY8 Gene

Genes around ADCY8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADCY8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADCY8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADCY8 Gene

Proteins for ADCY8 Gene

  • Protein details for ADCY8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P40145-ADCY8_HUMAN
    Recommended name:
    Adenylate cyclase type 8
    Protein Accession:
    P40145

    Protein attributes for ADCY8 Gene

    Size:
    1251 amino acids
    Molecular mass:
    140122 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

neXtProt entry for ADCY8 Gene

Selected DME Specific Peptides for ADCY8 Gene

P40145:
  • VLCGVLGLRKWQ
  • LERLYQRYF
  • SRMDSTGV
  • RIKILGDCYYC
  • TYMAVSGL
  • EKIKTIG
  • VDMRIGIH
  • EELYSQSYD
  • CGVLGLRKWQFDVWS
  • DHAHCCVEMG
  • ECLRLLNEII

Post-translational modifications for ADCY8 Gene

  • Glycosylation at posLast=817817, Asn821, and posLast=888888
  • Modification sites at PhosphoSitePlus

Other Protein References for ADCY8 Gene

Domains & Families for ADCY8 Gene

Gene Families for ADCY8 Gene

Suggested Antigen Peptide Sequences for ADCY8 Gene

Graphical View of Domain Structure for InterPro Entry

P40145

UniProtKB/Swiss-Prot:

ADCY8_HUMAN :
  • The protein contains two modules with six transmembrane helices each; both are required for catalytic activity. Isolated N-terminal or C-terminal guanylate cyclase domains have no catalytic activity, but when they are brought together, enzyme activity is restored. The active site is at the interface of the two domains. Both contribute substrate-binding residues, but the catalytic metal ions are bound exclusively via the N-terminal guanylate cyclase domain.
  • Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.
Domain:
  • The protein contains two modules with six transmembrane helices each; both are required for catalytic activity. Isolated N-terminal or C-terminal guanylate cyclase domains have no catalytic activity, but when they are brought together, enzyme activity is restored. The active site is at the interface of the two domains. Both contribute substrate-binding residues, but the catalytic metal ions are bound exclusively via the N-terminal guanylate cyclase domain.
Family:
  • Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.
genes like me logo Genes that share domains with ADCY8: view

Function for ADCY8 Gene

Molecular function for ADCY8 Gene

GENATLAS Biochemistry:
adenylyl cyclase type VIII,brain
UniProtKB/Swiss-Prot CatalyticActivity:
ATP = 3,5-cyclic AMP + diphosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by calcium/calmodulin.
UniProtKB/Swiss-Prot Function:
This is a membrane-bound, calcium-stimulable adenylyl cyclase. May be involved in learning, in memory and in drug dependence (By similarity).

Enzyme Numbers (IUBMB) for ADCY8 Gene

Gene Ontology (GO) - Molecular Function for ADCY8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004016 adenylate cyclase activity TAS,IEA --
GO:0004383 guanylate cyclase activity IBA --
GO:0005524 ATP binding IEA --
GO:0008294 calcium- and calmodulin-responsive adenylate cyclase activity TAS 8163524
GO:0016829 lyase activity IEA --
genes like me logo Genes that share ontologies with ADCY8: view
genes like me logo Genes that share phenotypes with ADCY8: view

Animal Models for ADCY8 Gene

MGI Knock Outs for ADCY8:

Animal Model Products

miRNA for ADCY8 Gene

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ADCY8 Gene

Localization for ADCY8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADCY8 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADCY8 gene
Compartment Confidence
plasma membrane 5
cytosol 4

Gene Ontology (GO) - Cellular Components for ADCY8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane TAS,IEA --
GO:0008074 guanylate cyclase complex, soluble IBA --
GO:0016020 membrane IEA,TAS 8163524
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ADCY8: view

Pathways & Interactions for ADCY8 Gene

SuperPathways for ADCY8 Gene

SuperPathway Contained pathways
1 DAG and IP3 signaling
2 RET signaling
3 Aquaporin-mediated transport
4 Vascular smooth muscle contraction
5 Development Endothelin-1/EDNRA signaling
genes like me logo Genes that share pathways with ADCY8: view

SIGNOR curated interactions for ADCY8 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ADCY8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003091 renal water homeostasis TAS --
GO:0006171 cAMP biosynthetic process IEA --
GO:0006182 cGMP biosynthetic process IBA --
GO:0007165 signal transduction TAS 8076676
GO:0007189 adenylate cyclase-activating G-protein coupled receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with ADCY8: view

Drugs & Compounds for ADCY8 Gene

(16) Drugs for ADCY8 Gene - From: ApexBio, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine triphosphate Approved Nutra 0
Pyruvic acid Approved Nutra 0
cyclic amp Experimental Pharma 0
Cyclic GMP Experimental Pharma 0

(1) Additional Compounds for ADCY8 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8

(5) Tocris Compounds for ADCY8 Gene

Compound Action Cas Number
KH 7 Selective soluble adenylyl cyclase inhibitor 330676-02-3
NKH 477 Water-soluble adenylyl cyclase activator 138605-00-2
PACAP 1-27 Potent stimulator of adenylyl cyclase 127317-03-7
PACAP 1-38 Potent stimulator of adenylyl cyclase 137061-48-4
SQ 22536 Adenylyl cyclase inhibitor 17318-31-9

(1) ApexBio Compounds for ADCY8 Gene

Compound Action Cas Number
Forskolin 66575-29-9
genes like me logo Genes that share compounds with ADCY8: view

Drug Products

Transcripts for ADCY8 Gene

mRNA/cDNA for ADCY8 Gene

Unigene Clusters for ADCY8 Gene

Adenylate cyclase 8 (brain):
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADCY8 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b
SP1:
SP2: - - -

Relevant External Links for ADCY8 Gene

GeneLoc Exon Structure for
ADCY8
ECgene alternative splicing isoforms for
ADCY8

Expression for ADCY8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ADCY8 Gene

mRNA differential expression in normal tissues according to GTEx for ADCY8 Gene

This gene is overexpressed in Brain - Amygdala (x5.4), Brain - Hippocampus (x4.7), and Brain - Anterior cingulate cortex (BA24) (x4.2).

Protein differential expression in normal tissues from HIPED for ADCY8 Gene

This gene is overexpressed in Liver, secretome (32.4) and Spinal cord (26.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ADCY8 Gene



Protein tissue co-expression partners for ADCY8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ADCY8 Gene:

ADCY8

SOURCE GeneReport for Unigene cluster for ADCY8 Gene:

Hs.591859

mRNA Expression by UniProt/SwissProt for ADCY8 Gene:

P40145-ADCY8_HUMAN
Tissue specificity: Detected in brain cortex.

Evidence on tissue expression from TISSUES for ADCY8 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with ADCY8: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for ADCY8 Gene

Orthologs for ADCY8 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADCY8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADCY8 34 35
  • 99.19 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ADCY8 35
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ADCY8 35
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ADCY8 34 35
  • 92.27 (n)
cow
(Bos Taurus)
Mammalia ADCY8 34 35
  • 91.79 (n)
rat
(Rattus norvegicus)
Mammalia Adcy8 34
  • 90.28 (n)
mouse
(Mus musculus)
Mammalia Adcy8 34 16 35
  • 90.21 (n)
chicken
(Gallus gallus)
Aves ADCY8 34 35
  • 81.04 (n)
lizard
(Anolis carolinensis)
Reptilia ADCY8 35
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adcy8 34
  • 79.42 (n)
zebrafish
(Danio rerio)
Actinopterygii adcy8 34 35
  • 74.61 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002262 34
  • 53.07 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ac78C 36 34
  • 52.28 (n)
rut 36
  • 45 (a)
Ac3 36
  • 36 (a)
ACXB 36
  • 30 (a)
ACXC 36
  • 29 (a)
ACXA 36
  • 28 (a)
ACXD 36
  • 28 (a)
ACXE 36
  • 28 (a)
worm
(Caenorhabditis elegans)
Secernentea acy-4 36 35
  • 41 (a)
acy-2 36
  • 36 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 49 (a)
OneToMany
-- 35
  • 40 (a)
OneToMany
Species where no ortholog for ADCY8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ADCY8 Gene

ENSEMBL:
Gene Tree for ADCY8 (if available)
TreeFam:
Gene Tree for ADCY8 (if available)

Paralogs for ADCY8 Gene

Paralogs for ADCY8 Gene

(9) SIMAP similar genes for ADCY8 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with ADCY8: view

Variants for ADCY8 Gene

Sequence variations from dbSNP and Humsavar for ADCY8 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
VAR_036328 A colorectal cancer sample
rs1000002124 -- 130,835,680(+) TCCCT(G/T)ATATA intron-variant
rs1000021955 -- 131,016,617(+) TTCAG(A/G)CAGAG intron-variant
rs1000035821 -- 131,041,153(+) GGGTG(C/T)GGGGA intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000042520 -- 130,926,279(+) CTAGC(A/G)TGACT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ADCY8 Gene

Variant ID Type Subtype PubMed ID
dgv1195n67 CNV gain 20364138
dgv12333n54 CNV loss 21841781
dgv12334n54 CNV loss 21841781
dgv12335n54 CNV loss 21841781
dgv12336n54 CNV loss 21841781
dgv12337n54 CNV loss 21841781
dgv3904n106 CNV deletion 24896259
dgv7311n100 CNV gain 25217958
esv1000595 CNV deletion 20482838
esv1011202 CNV deletion 20482838
esv1235416 CNV deletion 17803354
esv25237 CNV gain+loss 19812545
esv2655219 CNV insertion 19546169
esv2669733 CNV deletion 23128226
esv2675868 CNV deletion 23128226
esv2737587 CNV deletion 23290073
esv2761471 CNV gain 21179565
esv3270163 CNV deletion 24192839
esv3362459 CNV duplication 20981092
esv3379880 CNV duplication 20981092
esv3385643 CNV duplication 20981092
esv3544214 CNV deletion 23714750
esv3572992 CNV loss 25503493
esv3572993 CNV loss 25503493
esv3618837 CNV loss 21293372
esv3618838 CNV gain 21293372
esv3618839 CNV loss 21293372
esv3618840 CNV loss 21293372
esv6594 CNV loss 19470904
nsv1016494 CNV gain 25217958
nsv1028579 CNV gain 25217958
nsv1122202 CNV deletion 24896259
nsv1142034 OTHER inversion 24896259
nsv396197 CNV deletion 16902084
nsv472660 CNV novel sequence insertion 20440878
nsv475802 CNV novel sequence insertion 20440878
nsv478549 CNV novel sequence insertion 20440878
nsv512069 CNV loss 21212237
nsv512966 CNV insertion 21212237
nsv525692 CNV gain 19592680
nsv612294 CNV gain 21841781
nsv612295 CNV loss 21841781
nsv6397 CNV insertion 18451855
nsv819677 CNV gain 19587683
nsv821256 CNV deletion 20802225
nsv824732 CNV loss 20364138
nsv831462 CNV gain 17160897
nsv957657 CNV deletion 24416366
nsv972586 CNV deletion 23825009

Variation tolerance for ADCY8 Gene

Residual Variation Intolerance Score: 2.68% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.61; 56.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ADCY8 Gene

Human Gene Mutation Database (HGMD)
ADCY8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADCY8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADCY8 Gene

Disorders for ADCY8 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ADCY8 Gene - From: DISEASES

Disorder Aliases PubMed IDs
wolfram syndrome
  • wolfram syndrome 1
- elite association - COSMIC cancer census association via MalaCards
Search ADCY8 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ADCY8

Genetic Association Database (GAD)
ADCY8
Human Genome Epidemiology (HuGE) Navigator
ADCY8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADCY8
genes like me logo Genes that share disorders with ADCY8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ADCY8 Gene

Publications for ADCY8 Gene

  1. Molecular cloning of the human type VIII adenylyl cyclase. (PMID: 8076676) Defer N. … Hanoune J. (FEBS Lett. 1994) 2 3 4 64
  2. Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease. (PMID: 21116278) Furney S.J. … . (Mol. Psychiatry 2011) 3 46 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M. … Tokunaga K. (Hum. Genet. 2010) 3 46 64
  5. Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis. (PMID: 19156168) Need A.C. … Goldstein D.B. (Eur. J. Hum. Genet. 2009) 3 46 64

Products for ADCY8 Gene

Sources for ADCY8 Gene

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