ADCY4 Gene (Protein Coding)

Adenylate Cyclase 4

GC14M024318
GIFtS:
43
This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). Mouse studies show that adenylate cyclase 4, along with adenylate cyclases 2 and 3, is expressed in olfactory cilia, suggesting that several different adenylate cyclases may couple to ... See more...

Aliases for ADCY4 Gene

Aliases for ADCY4 Gene

  • Adenylate Cyclase 4 2 3 5
  • Adenylate Cyclase Type IV 3 4
  • ATP Pyrophosphate-Lyase 4 3 4
  • Adenylate Cyclase Type 4 3 4
  • Adenylyl Cyclase 4 3 4
  • EC 4.6.1.1 4 54
  • EC 4.6.1 54
  • AC4 3

External Ids for ADCY4 Gene

Previous GeneCards Identifiers for ADCY4 Gene

  • GC14M022160
  • GC14M018574
  • GC14M022777
  • GC14M023857
  • GC14M024787
  • GC14M004902

Summaries for ADCY4 Gene

Entrez Gene Summary for ADCY4 Gene

  • This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). Mouse studies show that adenylate cyclase 4, along with adenylate cyclases 2 and 3, is expressed in olfactory cilia, suggesting that several different adenylate cyclases may couple to olfactory receptors and that there may be multiple receptor-mediated mechanisms for the generation of cAMP signals. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]

GeneCards Summary for ADCY4 Gene

ADCY4 (Adenylate Cyclase 4) is a Protein Coding gene. Diseases associated with ADCY4 include Specific Language Impairment. Among its related pathways are Oxytocin signaling pathway and Adenylate cyclase inhibitory pathway. Gene Ontology (GO) annotations related to this gene include phosphorus-oxygen lyase activity and adenylate cyclase activity. An important paralog of this gene is ADCY2.

UniProtKB/Swiss-Prot Summary for ADCY4 Gene

  • Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling.

Tocris Summary for ADCY4 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 ADCY4 Gene

Additional gene information for ADCY4 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ADCY4 Gene

Genomics for ADCY4 Gene

GeneHancer (GH) Regulatory Elements for ADCY4 Gene

Promoters and enhancers for ADCY4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADCY4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ADCY4 gene promoter:
  • AML1a
  • STAT3

Genomic Locations for ADCY4 Gene

Genomic Locations for ADCY4 Gene
chr14:24,318,349-24,335,093
(GRCh38/hg38)
Size:
16,745 bases
Orientation:
Minus strand
chr14:24,787,555-24,804,299
(GRCh37/hg19)
Size:
16,745 bases
Orientation:
Minus strand

Genomic View for ADCY4 Gene

Genes around ADCY4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADCY4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADCY4 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ADCY4 Gene

Proteins for ADCY4 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for ADCY4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFM4-ADCY4_HUMAN
    Recommended name:
    Adenylate cyclase type 4
    Protein Accession:
    Q8NFM4
    Secondary Accessions:
    • B3KV74
    • D3DS75
    • Q17R40
    • Q6ZTM6
    • Q96ML7

    Protein attributes for ADCY4 Gene

    Size:
    1077 amino acids
    Molecular mass:
    119794 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB71270.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ADCY4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADCY4 Gene

Protein Expression for ADCY4 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ADCY4 Gene

Q8NFM4:
  • LNELFGKFD
  • RIKILGDCYYC
  • ADIVGFT
  • KIQVTEET
  • TVNVASR
  • TRYLESWGAA
  • WQYDVWS
  • EKIKTIG
  • DVTLANHME
  • RLDFLWK
  • ATGVDINMRVG
  • NNFHSLYVKRHQ
  • ASRMEST
  • ECLRLLNEII

Post-translational modifications for ADCY4 Gene

  • Glycosylation at Asn697 and Asn704
  • Modification sites at PhosphoSitePlus

Other Protein References for ADCY4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ADCY4 Gene

Gene Families for ADCY4 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ADCY4 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ADCY4 Gene

GenScript: Design optimal peptide antigens:
  • Adenylyl cyclase 4 (ADCY4_HUMAN)
  • cDNA FLJ16344 fis, clone TESTI2032643, moderately similar to ADENYLATE CYCLASE, TYPE IV (EC 4.6.1.1) (Q6ZN83_HUMAN)
  • cDNA FLJ44504 fis, clone UTERU3001240, highly similar to Adenylate cyclase, type IV (EC 4.6.1.1) (Q6ZTM6_HUMAN)
  • ADCY4 protein (Q96KY6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NFM4

UniProtKB/Swiss-Prot:

ADCY4_HUMAN :
  • The protein contains two modules with six transmembrane helices each; both are required for catalytic activity. Isolated N-terminal or C-terminal modules have no catalytic activity, but when they are brought together, enzyme activity is restored. The active site is at the interface of the two modules.
  • 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 modules have no catalytic activity, but when they are brought together, enzyme activity is restored. The active site is at the interface of the two modules.
Family:
  • Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.
genes like me logo Genes that share domains with ADCY4: view

Function for ADCY4 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for ADCY4 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP = 3',5'-cyclic AMP + diphosphate; Xref=Rhea:RHEA:15389, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:58165; EC=4.6.1.1; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by forskolin. Insensitive to calcium/calmodulin. Stimulated by GNAS and by the G-protein beta and gamma subunit complex.
GENATLAS Biochemistry:
adenylate cyclase,type IV

Enzyme Numbers (IUBMB) for ADCY4 Gene

Phenotypes From GWAS Catalog for ADCY4 Gene

Gene Ontology (GO) - Molecular Function for ADCY4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004016 adenylate cyclase activity ISS,IEA --
GO:0005080 protein kinase C binding IDA 17081159
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 ADCY4: view
genes like me logo Genes that share phenotypes with ADCY4: view

Animal Models for ADCY4 Gene

MGI Knock Outs for ADCY4:

Animal Model Products

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for ADCY4 Gene

Localization for ADCY4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADCY4 Gene

Cell membrane; Multi-pass membrane protein. Cytoplasm.

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 ADCY4 gene
Compartment Confidence
plasma membrane 5
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ADCY4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 11549699
GO:0005886 plasma membrane IEA,TAS --
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0016020 membrane IEA,ISS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ADCY4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ADCY4 Gene

Pathways & Interactions for ADCY4 Gene

PathCards logo

SuperPathways for ADCY4 Gene

genes like me logo Genes that share pathways with ADCY4: view

SIGNOR curated interactions for ADCY4 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ADCY4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003091 renal water homeostasis TAS --
GO:0006171 cAMP biosynthetic process ISS,IEA --
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0007188 adenylate cyclase-modulating G protein-coupled receptor signaling pathway ISS --
GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with ADCY4: view

Drugs & Compounds for ADCY4 Gene

Products:

  1. Drug

(15) Drugs for ADCY4 Gene - From: ApexBio, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
Phosphoric acid Approved Pharma 0
Calcium Approved Nutra 7773
NADH Approved Nutra 0
Pyruvic acid Approved, Investigational Nutra 0

(1) Additional Compounds for ADCY4 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
 14000-31-8

(5) Tocris Compounds for ADCY4 Gene

Compound Action Cas Number
Forskolin Adenylyl cyclase activator 66575-29-9
KH 7 Selective soluble adenylyl cyclase inhibitor 330676-02-3
MDL 12330A hydrochloride Adenylyl cyclase inhibitor; also cyclic nucleotide PDE inhibitor 40297-09-4
NKH 477 Water-soluble adenylyl cyclase activator 138605-00-2
SQ 22536 Adenylyl cyclase inhibitor 17318-31-9

(1) ApexBio Compounds for ADCY4 Gene

Compound Action Cas Number
Forskolin 66575-29-9
genes like me logo Genes that share compounds with ADCY4: view

Drug Products

Transcripts for ADCY4 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ADCY4 Gene

(3) REFSEQ mRNAs :
(14) Additional mRNA sequences :
(159) Selected AceView cDNA sequences:
(19) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADCY4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^
SP1: - - -
SP2:
SP3:
SP4: - -
SP5:
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:

ExUns: 18a · 18b ^ 19a · 19b ^ 20a · 20b · 20c ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26 ^ 27a · 27b
SP1: - - - - - -
SP2:
SP3: - - - - - - -
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9:
SP10: -
SP11:

Relevant External Links for ADCY4 Gene

GeneLoc Exon Structure for
ADCY4
ECgene alternative splicing isoforms for
ADCY4

Expression for ADCY4 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ADCY4 Gene

mRNA expression in normal human tissues for ADCY4 Gene
mRNA expression by GTEx for ADCY4 GenemRNA expression by BioGPS for ADCY4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ADCY4 Gene

This gene is overexpressed in Heart (45.0) and Placenta (24.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ADCY4 Gene



Protein tissue co-expression partners for ADCY4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ADCY4 Gene:

ADCY4

SOURCE GeneReport for Unigene cluster for ADCY4 Gene:

Hs.443428

mRNA Expression by UniProt/SwissProt for ADCY4 Gene:

Q8NFM4-ADCY4_HUMAN
Tissue specificity: Detected in the zona glomerulosa and the zona fasciculata in the adrenal gland (at protein level).

Evidence on tissue expression from TISSUES for ADCY4 Gene

  • Lung(4.2)
  • Spleen(4.2)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with ADCY4: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ADCY4 Gene

Orthologs for ADCY4 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADCY4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia ADCY4 33 32
  • 99.69 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia ADCY4 33 32
  • 89.97 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia ADCY4 33 32
  • 89.31 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Adcy4 17 33 32
  • 86.75 (n)
rat
(Rattus norvegicus)
 Mammalia Adcy4 32
  • 86.29 (n)
oppossum
(Monodelphis domestica)
 Mammalia ADCY4 33
  • 82 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 33
  • 50 (a)
 ManyToMany
lizard
(Anolis carolinensis)
 Reptilia ADCY4 33
  • 67 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia adcy4 32
  • 63.46 (n)
zebrafish
(Danio rerio)
 Actinopterygii CABZ01111926.1 33
  • 70 (a)
 ManyToMany
adcy2b 33
  • 52 (a)
 ManyToMany
fruit fly
(Drosophila melanogaster)
 Insecta Ac76E 33 34
  • 31 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea acy-4 34
  • 49 (a)
acy-2 33 34
  • 29 (a)
 OneToMany
Species where no ortholog for ADCY4 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)
  • chicken (Gallus gallus)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 ADCY4 Gene

ENSEMBL:
Gene Tree for ADCY4 (if available)
TreeFam:
Gene Tree for ADCY4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ADCY4: view image

Paralogs for ADCY4 Gene

Paralogs for ADCY4 Gene

(11) SIMAP similar genes for ADCY4 Gene using alignment to 8 proteins:

  • ADCY4_HUMAN
  • G3V258_HUMAN
  • G3V262_HUMAN
  • H0YJ57_HUMAN
  • H0YLM0_HUMAN
  • H0YN72_HUMAN
  • Q6ZTM6_HUMAN
  • Q96KY6_HUMAN
genes like me logo Genes that share paralogs with ADCY4: view

Variants for ADCY4 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for ADCY4 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000125361 -- 24,321,788(-) C/T intron_variant
rs1000305647 -- 24,336,474(-) G/A upstream_transcript_variant
rs1000433857 -- 24,321,060(-) G/A intron_variant
rs1000675087 -- 24,319,871(-) G/A coding_sequence_variant, synonymous_variant
rs1001129793 -- 24,336,745(-) C/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ADCY4 Gene

Variant ID Type Subtype PubMed ID
esv3362635 CNV insertion 20981092
nsv516237 CNV loss 19592680
nsv564059 CNV loss 21841781
nsv564060 CNV loss 21841781

Variation tolerance for ADCY4 Gene

Residual Variation Intolerance Score: 16.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.37; 53.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADCY4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADCY4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADCY4 Gene

Disorders for ADCY4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ADCY4 Gene - From: GeneCards

Disorder Aliases PubMed IDs
specific language impairment
  • language impairment, specific
- elite association - COSMIC cancer census association via MalaCards
Search ADCY4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ADCY4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ADCY4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ADCY4 Gene

Publications for ADCY4 Gene

  1. Expression and regulation of adenylyl cyclase isoforms in the human adrenal gland. (PMID: 11549699) Côté M … Gallo-Payet N (The Journal of clinical endocrinology and metabolism 2001) 3 4 23 56
  2. Human bronchial smooth muscle cells express adenylyl cyclase isoforms 2, 4, and 6 in distinct membrane microdomains. (PMID: 21228062) Bogard AS … Ostrom RS (The Journal of pharmacology and experimental therapeutics 2011) 3 4 56
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  5. Characterization of the human adenylyl cyclase gene family: cDNA, gene structure, and tissue distribution of the nine isoforms. (PMID: 12503609) Ludwig MG … Seuwen K (Journal of receptor and signal transduction research 2002) 3 4 56

ExternalLinks

View latest publications for ADCY4 gene in Mastermind

Products for ADCY4 Gene

Sources for ADCY4 Gene