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Aliases for ADCY6 Gene

Aliases for ADCY6 Gene

  • Adenylate Cyclase 6 2 3 5
  • Ca(2+)-Inhibitable Adenylyl Cyclase 3 4
  • Adenylate Cyclase Type VI 3 4
  • ATP Pyrophosphate-Lyase 6 3 4
  • EC 4.6.1.1 4 61
  • Adenylate Cyclase Type 6 3
  • Adenylyl Cyclase 6 4
  • KIAA0422 4
  • LCCS8 3
  • AC6 3

External Ids for ADCY6 Gene

Previous GeneCards Identifiers for ADCY6 Gene

  • GC12P061214
  • GC12M049170
  • GC12M048876
  • GC12M047446
  • GC12M046193
  • GC12M049159

Summaries for ADCY6 Gene

Entrez Gene Summary for ADCY6 Gene

  • This gene encodes a member of the adenylyl cyclase family of proteins, which are required for the synthesis of cyclic AMP. All members of this family have an intracellular N-terminus, a tandem repeat of six transmembrane domains separated by a cytoplasmic loop, and a C-terminal cytoplasmic domain. The two cytoplasmic regions bind ATP and form the catalytic core of the protein. Adenylyl cyclases are important effectors of transmembrane signaling pathways and are regulated by the activity of G protein coupled receptor signaling. This protein belongs to a small subclass of adenylyl cyclase proteins that are functionally related and are inhibited by protein kinase A, calcium ions and nitric oxide. A mutation in this gene is associated with arthrogryposis multiplex congenita. [provided by RefSeq, May 2015]

GeneCards Summary for ADCY6 Gene

ADCY6 (Adenylate Cyclase 6) is a Protein Coding gene. Diseases associated with ADCY6 include Lethal Congenital Contracture Syndrome 8 and Hypomyelination Neuropathy-Arthrogryposis Syndrome. Among its related pathways are Signaling in Gap Junctions and Development Endothelin-1/EDNRA signaling. GO annotations related to this gene include protein kinase binding and adenylate cyclase activity. An important paralog of this gene is ADCY5.

UniProtKB/Swiss-Prot for ADCY6 Gene

  • Catalyzes the formation of the signaling molecule cAMP downstream of G protein-coupled receptors (PubMed:17916776, PubMed:17110384). Functions in signaling cascades downstream of beta-adrenergic receptors in the heart and in vascular smooth muscle cells (PubMed:17916776). Functions in signaling cascades downstream of the vasopressin receptor in the kidney and has a role in renal water reabsorption. Functions in signaling cascades downstream of PTH1R and plays a role in regulating renal phosphate excretion. Functions in signaling cascades downstream of the VIP and SCT receptors in pancreas and contributes to the regulation of pancreatic amylase and fluid secretion (By similarity). Signaling mediates cAMP-dependent activation of protein kinase PKA. This promotes increased phosphorylation of various proteins, including AKT. Plays a role in regulating cardiac sarcoplasmic reticulum Ca(2+) uptake and storage, and is required for normal heart ventricular contractibility. May contribute to normal heart function (By similarity). Mediates vasodilatation after activation of beta-adrenergic receptors by isoproterenol (PubMed:17916776). Contributes to bone cell responses to mechanical stimuli (By similarity).

Tocris Summary for ADCY6 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 ADCY6 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADCY6 Gene

Genomics for ADCY6 Gene

Regulatory Elements for ADCY6 Gene

Enhancers for ADCY6 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
GH12G048865 1.1 ENCODE 21.8 -77.2 -77194 2.2 HDGF PKNOX1 FOXA2 WRNIP1 ZFP64 ARID4B SIN3A FEZF1 ZNF2 YY1 KANSL2 LOC390314 DDX23 PRPF40B LOC100422296 CCNT1 ENSG00000257964 SENP1 BCDIN3D-AS1 CCDC184
GH12G049055 1.8 FANTOM5 ENCODE dbSUPER 13.1 -269.5 -269466 6.7 CREB3L1 AGO1 FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF548 ZNF263 SP3 DDX23 LOC390314 CCNT1 KANSL2 SENP1 PRPF40B DDN LOC100422296 LOC101927267 CCDC184
GH12G049129 1.5 ENCODE dbSUPER 13.1 -342.3 -342330 4.6 MLX CREB3L1 AGO1 DMAP1 YBX1 FEZF1 YY1 SLC30A9 ZNF416 ZNF143 DDX23 LOC390314 CCNT1 KANSL2 PRPF40B LOC105369760 BCDIN3D OR5BK1P CCDC184 LOC100422296
GH12G049564 1.4 ENCODE dbSUPER 13.1 -777.8 -777755 5.1 PKNOX1 CREB3L1 ARNT ZFP64 WRNIP1 ARID4B SIN3A DMAP1 FEZF1 ZNF2 PRPF40B ADCY6 ENSG00000257298 LOC100422296 TUBA1C SPATS2 GC12M049547
GH12G048104 1.2 ENCODE 13.1 +682.7 682748 4.1 CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 RPL37P19 CACNB3 CCDC184 ZNF641 H1FNT OR5BK1P ADCY6 ARF3 RNU6-1203P PRKAG1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ADCY6 on UCSC Golden Path with GeneCards custom track

Promoters for ADCY6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000051528 37 2001 HNRNPUL1 ZNF133 ARID4B SIN3A GLI4 BRCA1 ZNF2 ZNF121 GLIS2 SP3

Genomic Location for ADCY6 Gene

Chromosome:
12
Start:
48,766,192 bp from pter
End:
48,789,037 bp from pter
Size:
22,846 bases
Orientation:
Minus strand

Genomic View for ADCY6 Gene

Genes around ADCY6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADCY6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADCY6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADCY6 Gene

Proteins for ADCY6 Gene

  • Protein details for ADCY6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43306-ADCY6_HUMAN
    Recommended name:
    Adenylate cyclase type 6
    Protein Accession:
    O43306
    Secondary Accessions:
    • Q9NR75
    • Q9UDB0

    Protein attributes for ADCY6 Gene

    Size:
    1168 amino acids
    Molecular mass:
    130615 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Part of a complex containing AKAP5, ADCY5, PDE4C and PKD2 (By similarity). Interacts with RAF1 (PubMed:15385642). Interacts (via cytoplasmic N-terminus) with GNAS, GNB1 and GNG2 (PubMed:17110384).
    SequenceCaution:
    • Sequence=BAA24852.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for ADCY6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADCY6 Gene

Selected DME Specific Peptides for ADCY6 Gene

O43306:
  • ERLLLSVLP
  • RMRAAVLSG
  • MRVGIHSG
  • QQERLLLS
  • AGRIHIT
  • LNEIIADFDEIISE
  • NPEDEVDEFL
  • TYMAASGLN
  • RAIDARSID
  • CTHYPAEVSQRQAFQETR
  • GRSHITALADYAMRLMEQMKHINEHSFNNFQMKIGLNMGP
  • RFGAYVACA
  • LERLYQRYF
  • SRMDSTGV
  • RIKILGDCYYC
  • FHKIYIQ
  • DLEKKYS
  • AGVIGARKP
  • LMVVCNRHSFRQDSMWVVSYVVLGILAAVQVGGALAA
  • PTCSFPEYF
  • LASQCTAQELV
  • CGVLGLRKWQFDVWS
  • TYFLNGGP
  • YQLECRGVVKVKGKGEM
  • EKEEMEELQAYNRRLLHNILPKDVAAHFLARERRNDEL
  • EKIKTIG
  • KLQRTRANSMEGLMPRWVPDRAFSRTKDSKAFRQMGIDDS
  • LNGDYEVEPG
  • HVRRFLLTF
  • DHAHCCVEMG
  • IETFLIL
  • ECLRLLNEII
  • DVTLANHME
  • RLDFLWK
  • QKRKEEKAM

Post-translational modifications for ADCY6 Gene

  • Phosphorylation by RAF1 increases enzyme activity. Phosphorylation by PKA at Ser-662 inhibits the GNAS-mediated increase in catalytic activity. Phosphorylation by PKC at Ser-556, Ser-662 and Thr-919 inhibits catalytic activity.
  • Ubiquitination at Lys129
  • Glycosylation at posLast=793793
  • Modification sites at PhosphoSitePlus

Other Protein References for ADCY6 Gene

Antibody Products

  • Cloud-Clone Corp. Antibodies for ADCY6

Domains & Families for ADCY6 Gene

Gene Families for ADCY6 Gene

Suggested Antigen Peptide Sequences for ADCY6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O43306

UniProtKB/Swiss-Prot:

ADCY6_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 ADCY6: view

Function for ADCY6 Gene

Molecular function for ADCY6 Gene

GENATLAS Biochemistry:
adenylyl cyclase,type VI,ubiquitous
UniProtKB/Swiss-Prot CatalyticActivity:
ATP = 3,5-cyclic AMP + diphosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by forskolin (PubMed:17916776, PubMed:17110384). Inhibited by calcium ions, already at micromolar concentrations (By similarity). Inhibited by adenosine, AMP and their analogs (By similarity). Activated by GNAS (PubMed:17110384). Is further activated by the complex formed by GNB1 and GNG2 (PubMed:17110384). Phosphorylation by RAF1 results in its activation (By similarity).
UniProtKB/Swiss-Prot Function:
Catalyzes the formation of the signaling molecule cAMP downstream of G protein-coupled receptors (PubMed:17916776, PubMed:17110384). Functions in signaling cascades downstream of beta-adrenergic receptors in the heart and in vascular smooth muscle cells (PubMed:17916776). Functions in signaling cascades downstream of the vasopressin receptor in the kidney and has a role in renal water reabsorption. Functions in signaling cascades downstream of PTH1R and plays a role in regulating renal phosphate excretion. Functions in signaling cascades downstream of the VIP and SCT receptors in pancreas and contributes to the regulation of pancreatic amylase and fluid secretion (By similarity). Signaling mediates cAMP-dependent activation of protein kinase PKA. This promotes increased phosphorylation of various proteins, including AKT. Plays a role in regulating cardiac sarcoplasmic reticulum Ca(2+) uptake and storage, and is required for normal heart ventricular contractibility. May contribute to normal heart function (By similarity). Mediates vasodilatation after activation of beta-adrenergic receptors by isoproterenol (PubMed:17916776). Contributes to bone cell responses to mechanical stimuli (By similarity).

Enzyme Numbers (IUBMB) for ADCY6 Gene

Gene Ontology (GO) - Molecular Function for ADCY6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004016 adenylate cyclase activity IDA 17916776
GO:0004383 guanylate cyclase activity IBA --
GO:0005515 protein binding IPI 17081159
GO:0005524 ATP binding IEA --
GO:0016829 lyase activity IEA --
genes like me logo Genes that share ontologies with ADCY6: view
genes like me logo Genes that share phenotypes with ADCY6: view

Human Phenotype Ontology for ADCY6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ADCY6 Gene

MGI Knock Outs for ADCY6:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for ADCY6 Gene

Localization for ADCY6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADCY6 Gene

Cell membrane; Multi-pass membrane protein. Cell projection, cilium.

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 ADCY6 gene
Compartment Confidence
plasma membrane 5
cytosol 3
endoplasmic reticulum 2
golgi apparatus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for ADCY6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005929 cilium IEA --
GO:0008074 guanylate cyclase complex, soluble IBA --
GO:0016020 membrane ISS,IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ADCY6: view

Pathways & Interactions for ADCY6 Gene

SuperPathways for ADCY6 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 ADCY6: view

SIGNOR curated interactions for ADCY6 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ADCY6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003091 renal water homeostasis TAS --
GO:0006171 cAMP biosynthetic process IDA 17916776
GO:0006182 cGMP biosynthetic process IBA --
GO:0007189 adenylate cyclase-activating G-protein coupled receptor signaling pathway TAS --
GO:0007190 activation of adenylate cyclase activity TAS --
genes like me logo Genes that share ontologies with ADCY6: view

Drugs & Compounds for ADCY6 Gene

(16) Drugs for ADCY6 Gene - From: HMDB, Tocris, and Novoseek

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

(2) Additional Compounds for ADCY6 Gene - From: HMDB and Novoseek

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 ADCY6 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
genes like me logo Genes that share compounds with ADCY6: view

Transcripts for ADCY6 Gene

mRNA/cDNA for ADCY6 Gene

(7) Selected AceView cDNA sequences:
(6) Additional mRNA sequences :
(4) REFSEQ mRNAs :
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ADCY6 Gene

Adenylate cyclase 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ADCY6 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21
SP1:
SP2: -
SP3:

Relevant External Links for ADCY6 Gene

GeneLoc Exon Structure for
ADCY6
ECgene alternative splicing isoforms for
ADCY6

Expression for ADCY6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ADCY6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ADCY6 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (45.2) and Heart (17.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ADCY6 Gene



Protein tissue co-expression partners for ADCY6 Gene

NURSA nuclear receptor signaling pathways regulating expression of ADCY6 Gene:

ADCY6

SOURCE GeneReport for Unigene cluster for ADCY6 Gene:

Hs.525401

mRNA Expression by UniProt/SwissProt for ADCY6 Gene:

O43306-ADCY6_HUMAN
Tissue specificity: Detected in peripheral blood mononuclear leukocytes (at protein level) (PubMed:17916776). Detected in thyroid (PubMed:10978539).

Evidence on tissue expression from TISSUES for ADCY6 Gene

  • Nervous system(4.7)
  • Blood(4.4)
  • Thyroid gland(4.2)
  • Eye(4.1)
  • Liver(4.1)
  • Heart(2.8)
  • Muscle(2.6)
  • Kidney(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ADCY6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • face
  • head
Thorax:
  • lung
Pelvis:
  • placenta
  • uterus
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with ADCY6: view

Primer Products

No data available for mRNA differential expression in normal tissues for ADCY6 Gene

Orthologs for ADCY6 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADCY6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADCY6 34 35
  • 99.64 (n)
dog
(Canis familiaris)
Mammalia ADCY6 34 35
  • 92.74 (n)
cow
(Bos Taurus)
Mammalia ADCY6 34 35
  • 91.31 (n)
mouse
(Mus musculus)
Mammalia Adcy6 34 16 35
  • 88.56 (n)
rat
(Rattus norvegicus)
Mammalia Adcy6 34
  • 87.85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ADCY6 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADCY6 35
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADCY6 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adcy6 34
  • 70.32 (n)
zebrafish
(Danio rerio)
Actinopterygii adcy6a 35
  • 71 (a)
OneToMany
adcy6b 34 35
  • 70.34 (n)
fruit fly
(Drosophila melanogaster)
Insecta rut 36
  • 49 (a)
CG43373 35
  • 29 (a)
OneToMany
ACXB 36
  • 26 (a)
ACXC 36
  • 26 (a)
ACXE 36
  • 26 (a)
ACXA 36
  • 25 (a)
worm
(Caenorhabditis elegans)
Secernentea acy-4 36
  • 49 (a)
acy-2 36
  • 41 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 48 (a)
OneToMany
Species where no ortholog for ADCY6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 ADCY6 Gene

ENSEMBL:
Gene Tree for ADCY6 (if available)
TreeFam:
Gene Tree for ADCY6 (if available)

Paralogs for ADCY6 Gene

Paralogs for ADCY6 Gene

(7) SIMAP similar genes for ADCY6 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ADCY6: view

Variants for ADCY6 Gene

Sequence variations from dbSNP and Humsavar for ADCY6 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs786204798 Pathogenic, Lethal congenital contracture syndrome 8 (LCCS8) [MIM:616287] 48,768,972(-) CTAGT(C/T)GTATG nc-transcript-variant, reference, missense
rs879253864 Likely pathogenic 48,771,786(-) GTTCT(A/G)TGTGG nc-transcript-variant, downstream-variant-500B, reference, missense
rs1000467833 -- 48,784,097(+) AAATT(A/G)GCCTG intron-variant, upstream-variant-2KB
rs1000590465 -- 48,790,778(+) AAATC(A/G)AGACC intron-variant, upstream-variant-2KB
rs1000717051 -- 48,779,426(+) CACTC(-/TACTGAG)TCAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ADCY6 Gene

Variant ID Type Subtype PubMed ID
nsv1069662 CNV deletion 25765185
nsv826363 CNV gain 20364138

Variation tolerance for ADCY6 Gene

Residual Variation Intolerance Score: 4.22% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.27; 62.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ADCY6 Gene

Human Gene Mutation Database (HGMD)
ADCY6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADCY6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADCY6 Gene

Disorders for ADCY6 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ADCY6 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
lethal congenital contracture syndrome 8
  • lccs8
hypomyelination neuropathy-arthrogryposis syndrome
  • boylan-dew syndrome
granulomatous amebic encephalitis
  • acanthamoeba encephalitis
- elite association - COSMIC cancer census association via MalaCards
Search ADCY6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ADCY6_HUMAN
  • Lethal congenital contracture syndrome 8 (LCCS8) [MIM:616287]: A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS8 is an axoglial form of arthrogryposis multiplex congenita, characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period. {ECO:0000269 PubMed:24319099}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ADCY6

Genetic Association Database (GAD)
ADCY6
Human Genome Epidemiology (HuGE) Navigator
ADCY6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADCY6
genes like me logo Genes that share disorders with ADCY6: view

No data available for Genatlas for ADCY6 Gene

Publications for ADCY6 Gene

  1. Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. (PMID: 24319099) LaquAcrriere A. … Melki J. (Hum. Mol. Genet. 2014) 3 4 64
  2. Conditional stimulation of type V and VI adenylyl cyclases by G protein betagamma subunits. (PMID: 17110384) Gao X. … Patel T.B. (J. Biol. Chem. 2007) 3 4 64
  3. Increased enzyme activity and beta-adrenergic mediated vasodilation in subjects expressing a single-nucleotide variant of human adenylyl cyclase 6. (PMID: 17916776) Gros R. … Feldman R.D. (Arterioscler. Thromb. Vasc. Biol. 2007) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Polymorphism of the type 6 adenylyl cyclase gene and cardiac hypertrophy. (PMID: 14871025) Ikoma E. … Ishikawa Y. (J. Cardiovasc. Pharmacol. 2003) 3 46 64

Products for ADCY6 Gene

Sources for ADCY6 Gene

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