Gene ADCY5 - ENSG00000173175 | NCBI Gene ID: 111

Details for: ADCY5

Gene ID: 111

Symbol: ADCY5

Ensembl ID: ENSG00000173175

Description: adenylate cyclase 5

Associated with

Activation of gabab receptors
(R-HSA-991365)
Adenylate cyclase activating pathway
(R-HSA-170660)
Adenylate cyclase inhibitory pathway
(R-HSA-170670)
Adora2b mediated anti-inflammatory cytokines production
(R-HSA-9660821)
Adrenaline,noradrenaline inhibits insulin secretion
(R-HSA-400042)
Anti-inflammatory response favouring leishmania parasite infection
(R-HSA-9662851)
Aquaporin-mediated transport
(R-HSA-445717)
Ca-dependent events
(R-HSA-111996)
Calmodulin induced events
(R-HSA-111933)
Cam pathway
(R-HSA-111997)
Dag and ip3 signaling
(R-HSA-1489509)
Disease
(R-HSA-1643685)
Fcgr3a-mediated il10 synthesis
(R-HSA-9664323)
G-protein mediated events
(R-HSA-112040)
Gaba b receptor activation
(R-HSA-977444)
Gaba receptor activation
(R-HSA-977443)
G alpha (i) signalling events
(R-HSA-418594)
G alpha (s) signalling events
(R-HSA-418555)
G alpha (z) signalling events
(R-HSA-418597)
Glucagon-like peptide-1 (glp1) regulates insulin secretion
(R-HSA-381676)
Glucagon signaling in metabolic regulation
(R-HSA-163359)
Gpcr downstream signalling
(R-HSA-388396)
Gper1 signaling
(R-HSA-9634597)
Hedgehog 'off' state
(R-HSA-5610787)
Infectious disease
(R-HSA-5663205)
Integration of energy metabolism
(R-HSA-163685)
Intracellular signaling by second messengers
(R-HSA-9006925)
Leishmania infection
(R-HSA-9658195)
Leishmania parasite growth and survival
(R-HSA-9664433)
Metabolism
(R-HSA-1430728)
Neuronal system
(R-HSA-112316)
Neurotransmitter receptors and postsynaptic signal transmission
(R-HSA-112314)
Opioid signalling
(R-HSA-111885)
Parasitic infection pathways
(R-HSA-9824443)
Pka-mediated phosphorylation of creb
(R-HSA-111931)
Pka activation
(R-HSA-163615)
Pka activation in glucagon signalling
(R-HSA-164378)
Plc beta mediated events
(R-HSA-112043)
Regulation of insulin secretion
(R-HSA-422356)
Signaling by gpcr
(R-HSA-372790)
Signaling by hedgehog
(R-HSA-5358351)
Signal transduction
(R-HSA-162582)
Transmission across chemical synapses
(R-HSA-112315)
Transport of small molecules
(R-HSA-382551)
Vasopressin regulates renal water homeostasis via aquaporins
(R-HSA-432040)
Adenylate cyclase-activating dopamine receptor signaling pathway
(GO:0007191)
Adenylate cyclase-activating g protein-coupled receptor signaling pathway
(GO:0007189)
Adenylate cyclase-inhibiting dopamine receptor signaling pathway
(GO:0007195)
Adenylate cyclase-inhibiting g protein-coupled receptor signaling pathway
(GO:0007193)
Adenylate cyclase activity
(GO:0004016)
Adenylate cyclase binding
(GO:0008179)
Atp binding
(GO:0005524)
Camp biosynthetic process
(GO:0006171)
Cellular response to forskolin
(GO:1904322)
Cilium
(GO:0005929)
G protein-coupled adenosine receptor signaling pathway
(GO:0001973)
Intracellular signal transduction
(GO:0035556)
Locomotory behavior
(GO:0007626)
Membrane
(GO:0016020)
Metal ion binding
(GO:0046872)
Neuromuscular process controlling balance
(GO:0050885)
Plasma membrane
(GO:0005886)
Positive regulation of cytosolic calcium ion concentration
(GO:0007204)
Regulation of insulin secretion involved in cellular response to glucose stimulus
(GO:0061178)
Scaffold protein binding
(GO:0097110)

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: regular ventricular cardiac myocyte (CL0002131)
Fold Change: 3.1
Marker Score: 69324
Cell Name: ciliary muscle cell (CL1000443)
Fold Change: 2.92
Marker Score: 6399
Cell Name: A2 amacrine cell (CL0004219)
Fold Change: 2.64
Marker Score: 838
Cell Name: subcutaneous fat cell (CL0002521)
Fold Change: 2.17
Marker Score: 793
Cell Name: regular atrial cardiac myocyte (CL0002129)
Fold Change: 2.04
Marker Score: 7269
Cell Name: contractile cell (CL0000183)
Fold Change: 2.03
Marker Score: 1100
Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: 1.96
Marker Score: 29287
Cell Name: vip GABAergic cortical interneuron (CL4023016)
Fold Change: 1.96
Marker Score: 74319
Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: 1.85
Marker Score: 68104
Cell Name: sncg GABAergic cortical interneuron (CL4023015)
Fold Change: 1.83
Marker Score: 13996
Cell Name: dopaminergic neuron (CL0000700)
Fold Change: 1.72
Marker Score: 17768
Cell Name: renal interstitial pericyte (CL1001318)
Fold Change: 1.69
Marker Score: 1615
Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: 1.68
Marker Score: 14425
Cell Name: fat cell (CL0000136)
Fold Change: 1.66
Marker Score: 928
Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: 1.64
Marker Score: 518
Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: 1.62
Marker Score: 32282
Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 1.61
Marker Score: 99227
Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: 1.57
Marker Score: 14949
Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 1.53
Marker Score: 5922
Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
Fold Change: 1.52
Marker Score: 6291
Cell Name: neuron (CL0000540)
Fold Change: 1.51
Marker Score: 6147
Cell Name: cardiac endothelial cell (CL0010008)
Fold Change: 1.48
Marker Score: 2810
Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: 1.46
Marker Score: 2258
Cell Name: leptomeningeal cell (CL0000708)
Fold Change: 1.41
Marker Score: 698
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 1.37
Marker Score: 21415
Cell Name: granulocyte monocyte progenitor cell (CL0000557)
Fold Change: 1.36
Marker Score: 863
Cell Name: immature innate lymphoid cell (CL0001082)
Fold Change: 1.33
Marker Score: 2705
Cell Name: inhibitory interneuron (CL0000498)
Fold Change: 1.33
Marker Score: 6152
Cell Name: brainstem motor neuron (CL2000047)
Fold Change: 1.3
Marker Score: 756
Cell Name: vascular leptomeningeal cell (CL4023051)
Fold Change: 1.27
Marker Score: 1459
Cell Name: oligodendrocyte (CL0000128)
Fold Change: 1.23
Marker Score: 2946
Cell Name: kidney interstitial fibroblast (CL1000692)
Fold Change: 1.17
Marker Score: 2256.5
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 1.14
Marker Score: 4800
Cell Name: Purkinje cell (CL0000121)
Fold Change: 1.13
Marker Score: 38190
Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
Fold Change: 1.11
Marker Score: 666
Cell Name: interneuron (CL0000099)
Fold Change: 1.1
Marker Score: 502
Cell Name: GABAergic interneuron (CL0011005)
Fold Change: 1.09
Marker Score: 419
Cell Name: connective tissue cell (CL0002320)
Fold Change: 1.07
Marker Score: 277
Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
Fold Change: 1.06
Marker Score: 279
Cell Name: smooth muscle myoblast (CL0000514)
Fold Change: 1.05
Marker Score: 503
Cell Name: cardiac muscle cell (CL0000746)
Fold Change: 1.04
Marker Score: 13829.5
Cell Name: acinar cell (CL0000622)
Fold Change: 1.02
Marker Score: 721
Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: 1
Marker Score: 9446
Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: 1
Marker Score: 71801
Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 1
Marker Score: 48026
Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30407
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.98
Marker Score: 503
Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
Fold Change: 0.97
Marker Score: 2289.5
Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
Fold Change: 0.97
Marker Score: 457
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.95
Marker Score: 2412
Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.94
Marker Score: 5343
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.92
Marker Score: 369
Cell Name: abnormal cell (CL0001061)
Fold Change: 0.91
Marker Score: 2735
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.9
Marker Score: 322
Cell Name: smooth muscle cell of prostate (CL1000487)
Fold Change: 0.89
Marker Score: 226
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5281
Cell Name: parietal epithelial cell (CL1000452)
Fold Change: 0.86
Marker Score: 311
Cell Name: early T lineage precursor (CL0002425)
Fold Change: 0.84
Marker Score: 641
Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: 0.82
Marker Score: 852
Cell Name: pulmonary ionocyte (CL0017000)
Fold Change: 0.8
Marker Score: 490
Cell Name: epicardial adipocyte (CL1000309)
Fold Change: 0.8
Marker Score: 387
Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
Fold Change: 0.78
Marker Score: 839
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.77
Marker Score: 1255
Cell Name: brush cell (CL0002204)
Fold Change: 0.76
Marker Score: 696
Cell Name: Cajal-Retzius cell (CL0000695)
Fold Change: 0.76
Marker Score: 392
Cell Name: pyramidal neuron (CL0000598)
Fold Change: 0.71
Marker Score: 1199
Cell Name: OFF retinal ganglion cell (CL4023033)
Fold Change: 0.7
Marker Score: 293
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.69
Marker Score: 178
Cell Name: enteric smooth muscle cell (CL0002504)
Fold Change: 0.68
Marker Score: 1603
Cell Name: renal alpha-intercalated cell (CL0005011)
Fold Change: 0.68
Marker Score: 356
Cell Name: hepatic stellate cell (CL0000632)
Fold Change: 0.66
Marker Score: 248
Cell Name: stellate neuron (CL0000122)
Fold Change: 0.64
Marker Score: 3414
Cell Name: macroglial cell (CL0000126)
Fold Change: 0.62
Marker Score: 1427
Cell Name: neuronal brush cell (CL0000555)
Fold Change: 0.62
Marker Score: 2071
Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: 0.62
Marker Score: 180
Cell Name: kidney capillary endothelial cell (CL1000892)
Fold Change: 0.61
Marker Score: 191
Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
Fold Change: 0.6
Marker Score: 1616
Cell Name: CNS interneuron (CL0000402)
Fold Change: 0.6
Marker Score: 289
Cell Name: ON retinal ganglion cell (CL4023032)
Fold Change: 0.59
Marker Score: 162
Cell Name: kidney interstitial cell (CL1000500)
Fold Change: 0.59
Marker Score: 421
Cell Name: microglial cell (CL0000129)
Fold Change: 0.59
Marker Score: 1069
Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: 0.57
Marker Score: 238
Cell Name: smooth muscle cell (CL0000192)
Fold Change: 0.57
Marker Score: 377
Cell Name: intestinal enteroendocrine cell (CL1001516)
Fold Change: 0.56
Marker Score: 449
Cell Name: mononuclear cell (CL0000842)
Fold Change: 0.56
Marker Score: 181
Cell Name: common myeloid progenitor (CL0000049)
Fold Change: 0.56
Marker Score: 148
Cell Name: intestinal tuft cell (CL0019032)
Fold Change: 0.55
Marker Score: 173
Cell Name: meningeal macrophage (CL0000879)
Fold Change: 0.54
Marker Score: 153
Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
Fold Change: 0.53
Marker Score: 539
Cell Name: mesangial cell (CL0000650)
Fold Change: 0.53
Marker Score: 641
Cell Name: mural cell (CL0008034)
Fold Change: 0.52
Marker Score: 59393
Cell Name: glycinergic amacrine cell (CL4030028)
Fold Change: 0.51
Marker Score: 480.5
Cell Name: paneth cell of colon (CL0009009)
Fold Change: 0.51
Marker Score: 146
Cell Name: skin fibroblast (CL0002620)
Fold Change: 0.5
Marker Score: 130
Cell Name: colon goblet cell (CL0009039)
Fold Change: 0.5
Marker Score: 364
Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 0.49
Marker Score: 330
Cell Name: pro-B cell (CL0000826)
Fold Change: 0.49
Marker Score: 470
Cell Name: cerebellar granule cell precursor (CL0002362)
Fold Change: 0.49
Marker Score: 272
Cell Name: glycinergic neuron (CL1001509)
Fold Change: 0.48
Marker Score: 583.5
Cell Name: oligodendrocyte precursor cell (CL0002453)
Fold Change: 0.48
Marker Score: 590

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**Key characteristics:** - ADCY5 is a transmembrane protein that is localized to the plasma membrane. - It is a member of the adenylate cyclase family of enzymes. - It is expressed in high levels in the heart, skeletal muscle, and adipose tissue. **Pathways and functions:** - ADCY5 is involved in the regulation of water and electrolyte homeostasis in the body. - It is a key regulator of cardiac function, including cardiac contractility and heart rate. - It is also involved in the regulation of renal water homeostasis. **Clinical significance:** - Mutations in ADCY5 have been linked to a number of human diseases, including heart failure, stroke, and diabetes. - ADCY5 inhibitors are being investigated as a treatment for these diseases. **Additional information:** - ADCY5 is a highly conserved protein that is found in organisms from yeast to humans. - It is a key regulator of the cardiovascular system, including the heart and kidneys. - It is also involved in the regulation of blood pressure, electrolyte balance, and metabolism.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

Genular Protein ID: 69629043

Symbol: ADCY5_HUMAN

Name: Adenylate cyclase type 5

UniProtKB Accession Codes:

O95622 B7Z8A6 Q7RTV7 Q8NFM3

Database IDs:

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

PubMed ID: 12503609

Title: Characterization of the human adenylyl cyclase gene family: cDNA, gene structure, and tissue distribution of the nine isoforms.

PubMed ID: 12503609

DOI: 10.1081/rrs-120014589

PubMed ID: 10481931

Title: Cloning and sequence of partial cDNAs encoding the human type V and VI adenylyl cyclases and subsequent RNA-quantification in various tissues.

PubMed ID: 10481931

DOI: 10.1016/s0009-8981(99)00067-4

PubMed ID: 15385642

Title: Raf kinase activation of adenylyl cyclases: isoform-selective regulation.

PubMed ID: 15385642

DOI: 10.1124/mol.66.4.921

PubMed ID: 24740569

Title: ADCY5 couples glucose to insulin secretion in human islets.

PubMed ID: 24740569

DOI: 10.2337/db13-1607

PubMed ID: 26206488

Title: Adenylyl cyclase 5 regulation by Gbetagamma involves isoform specific use of multiple interaction sites.

PubMed ID: 26206488

DOI: 10.1124/mol.115.099556

PubMed ID: 22782511

Title: Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.

PubMed ID: 22782511

DOI: 10.1001/archneurol.2012.54

PubMed ID: 24700542

Title: Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.

PubMed ID: 24700542

DOI: 10.1002/ana.24119

PubMed ID: 26085604

Title: ADCY5 mutations are another cause of benign hereditary chorea.

PubMed ID: 26085604

DOI: 10.1212/wnl.0000000000001720

PubMed ID: 28971144

Title: Autosomal recessive inheritance of ADCY5-related generalized dystonia and myoclonus.

PubMed ID: 28971144

DOI: 10.1212/nxg.0000000000000193

PubMed ID: 30975617

Title: Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders.

PubMed ID: 30975617

DOI: 10.1016/j.parkreldis.2019.02.039

PubMed ID: 33704598

Title: Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability.

PubMed ID: 33704598

DOI: 10.1007/s10072-021-05152-y

PubMed ID: 34631954

Title: A Novel Homozygous ADCY5 Variant is Associated with a Neurodevelopmental Disorder and Movement Abnormalities.

PubMed ID: 34631954

DOI: 10.1002/mdc3.13310

Sequence Information:

Length: 1261
Mass: 138908
Checksum: C50492A0B053694F
Sequence:

MSGSKSVSPP GYAAQKTAAP APRGGPEHRS AWGEADSRAN GYPHAPGGSA RGSTKKPGGA 
VTPQQQQRLA SRWRSDDDDD PPLSGDDPLA GGFGFSFRSK SAWQERGGDD CGRGSRRQRR 
GAASGGSTRA PPAGGGGGSA AAAASAGGTE VRPRSVEVGL EERRGKGRAA DELEAGAVEG 
GEGSGDGGSS ADSGSGAGPG AVLSLGACCL ALLQIFRSKK FPSDKLERLY QRYFFRLNQS 
SLTMLMAVLV LVCLVMLAFH AARPPLQLPY LAVLAAAVGV ILIMAVLCNR AAFHQDHMGL 
ACYALIAVVL AVQVVGLLLP QPRSASEGIW WTVFFIYTIY TLLPVRMRAA VLSGVLLSAL 
HLAIALRTNA QDQFLLKQLV SNVLIFSCTN IVGVCTHYPA EVSQRQAFQE TRECIQARLH 
SQRENQQQER LLLSVLPRHV AMEMKADINA KQEDMMFHKI YIQKHDNVSI LFADIEGFTS 
LASQCTAQEL VMTLNELFAR FDKLAAENHC LRIKILGDCY YCVSGLPEAR ADHAHCCVEM 
GMDMIEAISL VREVTGVNVN MRVGIHSGRV HCGVLGLRKW QFDVWSNDVT LANHMEAGGK 
AGRIHITKAT LNYLNGDYEV EPGCGGERNA YLKEHSIETF LILRCTQKRK EEKAMIAKMN 
RQRTNSIGHN PPHWGAERPF YNHLGGNQVS KEMKRMGFED PKDKNAQESA NPEDEVDEFL 
GRAIDARSID RLRSEHVRKF LLTFREPDLE KKYSKQVDDR FGAYVACASL VFLFICFVQI 
TIVPHSIFML SFYLTCSLLL TLVVFVSVIY SCVKLFPSPL QTLSRKIVRS KMNSTLVGVF 
TITLVFLAAF VNMFTCNSRD LLGCLAQEHN ISASQVNACH VAESAVNYSL GDEQGFCGSP 
WPNCNFPEYF TYSVLLSLLA CSVFLQISCI GKLVLMLAIE LIYVLIVEVP GVTLFDNADL 
LVTANAIDFF NNGTSQCPEH ATKVALKVVT PIIISVFVLA LYLHAQQVES TARLDFLWKL 
QATEEKEEME ELQAYNRRLL HNILPKDVAA HFLARERRND ELYYQSCECV AVMFASIANF 
SEFYVELEAN NEGVECLRLL NEIIADFDEI ISEDRFRQLE KIKTIGSTYM AASGLNDSTY 
DKVGKTHIKA LADFAMKLMD QMKYINEHSF NNFQMKIGLN IGPVVAGVIG ARKPQYDIWG 
NTVNVASRMD STGVPDRIQV TTDMYQVLAA NTYQLECRGV VKVKGKGEMM TYFLNGGPPL 
S

Genular Protein ID: 2074900770

Symbol: B7Z2C7_HUMAN

Name: N/A

UniProtKB Accession Codes:

B7Z2C7

Database IDs:

Sequence Information:

Length: 978
Mass: 110064
Checksum: 1FF7FB611BD419A8
Sequence:

MAVLCNRAAF HQDHMGLACY ALIAVVLAVQ VVGLLLPQPR SASEGIWWTV FFIYTIYTLL 
PVRMRAAVLS GVLLSALHLA IALRTNAQDQ FLLKQLVSNV LIFSCTNIVG VCTHYPAEVS 
QRQAFQETRE CIQARLHSQR ENQQQERLLL SVLPRHVAME MKADINAKQE DMMFHKIYIQ 
KHDNVSILFA DIEGFTSLAS QCTAQELVMT LNELFARFDK LAAENHCLRI KILGDCYYCV 
SGLPEARADH AHCCVEMGMD MIEAISLVRE VTGVNVNMRV GIHSGRVHCG VLGLRKWQFD 
VWSNDVTLAN HMEAGGKAGR IHITKATLNY LNGDYEVEPG CGGERNAYLK EHSIETFLIL 
RCTQKRKEEK AMIAKMNRQR TNSIGHNPPH WGAERPFYNH LGGNQVSKEM KRMGFEDPKD 
KNAQESANPE DEVDEFLGRA IDARSIDRLR SEHVRKFLLT FREPDLEKKY SKQVDDRFGA 
YVACASLVFL FICFVQITIV PHSIFMLSFY LTCSLLLTLV VFVSVIYSCV KLFPSPLQTL 
SRKIVRSKMN STLVGVFTIT LVFLAAFVNM FTCNSRDLLG CLAQEHNISA SQVNACHVAE 
SAVNYSLGDE QGFCGSPWPN CNFPEYFTYS VLLSLLACSV FLQISCIGKL VLMLAIELIY 
VLIVEVPGVT LFDNADLLVT ANAIDFFNNG TSQCPEHATK VALKVVTPII ISVFVLALYL 
HAQQVESTAR LDFLWKLQAT EEKEEMEELQ AYNRRLLHNI LPKDVAAHFL ARERRNDELY 
YQSCECVAVM FASIANFSEF YVELEANNEG VECLRLLNEI IADFDEIISE DRFRQLEKIK 
TIGSTYMAAS GLNDSTYDKV GKTHIKALAD FAMKLMDQMK YINEHSFNNF QMKIGLNIGP 
VVAGVIGARK PQYDIWGNTV NVASRMDSTG VPDRIQVTTD MYQVLAANTY QLECRGVVKV 
KGKGEMMTYF LNGGPPLS

Genular Protein ID: 346821613

Symbol: B3KWA8_HUMAN

Name: N/A

UniProtKB Accession Codes:

B3KWA8

Database IDs:

Citations:

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

Sequence Information:

Length: 919
Mass: 103868
Checksum: DC89BB6B6C4D9F6E
Sequence:

MAPSRFRTQL ELVSNVLIFS CTNIVGVCTH YPAEVSQRQA FQETRECIQA RLHSQRENQQ 
QERLLLSVLP RHVAMEMKAD INAKQEDMMF HKIYIQKHDN VSILFADIEG FTSLASQCTA 
QELVMTLNEL FARFDKLAAE NHCLRIKILG DCYYCVSGLP EARADHAHCC VEMGMDMIEA 
ISLVREVTGV NVNMRVGIHS GRVHCGVLGL RKWQFDVWSN DVTLANHMEA GGKAGRIHIT 
KATLNYLNGD YEVEPGCGGE RNAYLKEHSI ETFLILRCTQ KRKEEKAMIA KMNRQRTNSI 
GHNPPHWGAE RPFYNHLGGN QVSKEMKRMG FEDPKDKNAQ ESANPEDEVD EFLGRAIDAR 
SIDRLRSEHV RKFLLTFREP DLEKKYSKQV DDRFGAYVAC ASLVFLFICF VQITIVPHSI 
FMLSFYLTCS LLLTLVVFVS VIYSCVKLFP SPLQTLSRKI VRSKMNSTLV GVFTITLVFL 
AAFVNMFTCN SRDLLGCLAQ EHNISASQVN ACHVAESAVN YSLGDEQGFC GSPWPNCNFP 
EYFTYSVLLS LLACSVFLQI SCIGKLVLML AIELIYVLIV EVPGVTLFDN ADLLVTANAI 
DFFNNGTSQW SLCENLRHRR MEAGTYFPSG VKEQSPEHAT KVALKVVTPI IISVFVLALY 
LHAQQVESTA RLDFLWKLQA TEEKEEMEEL QAYNRRLLHN ILPKDVAAHF LARERRNDEL 
YYQSCECVAV MFASIANFSE FYVELEANNE GVECLRLLNE IIADFDEIIS EDRFRQLEKI 
KTIGSTYMAA SGLNDSTYDK VGKTHIKALA DFAMKLMDQM KYINEHSFNN FQMKIGLNIG 
PVVAGVIGAR KPQYDIWGNT VNVASRMDST GVPDRIQVTT DMYQVLAANT YQLECRGVVK 
VKGKGEMMTY FLNGGPPLS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.

Details for: ADCY5

Associated with

Cells (max top 100)

Other Information

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The DNA sequence, annotation and analysis of human chromosome 3. PubMed ID: 16641997

Characterization of the human adenylyl cyclase gene family: cDNA, gene structure, and tissue distribution of the nine isoforms. PubMed ID: 12503609

Cloning and sequence of partial cDNAs encoding the human type V and VI adenylyl cyclases and subsequent RNA-quantification in various tissues. PubMed ID: 10481931

Raf kinase activation of adenylyl cyclases: isoform-selective regulation. PubMed ID: 15385642

ADCY5 couples glucose to insulin secretion in human islets. PubMed ID: 24740569

Adenylyl cyclase 5 regulation by Gbetagamma involves isoform specific use of multiple interaction sites. PubMed ID: 26206488

Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. PubMed ID: 22782511

Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. PubMed ID: 24700542

ADCY5 mutations are another cause of benign hereditary chorea. PubMed ID: 26085604

Autosomal recessive inheritance of ADCY5-related generalized dystonia and myoclonus. PubMed ID: 28971144

Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders. PubMed ID: 30975617

Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability. PubMed ID: 33704598

A Novel Homozygous ADCY5 Variant is Associated with a Neurodevelopmental Disorder and Movement Abnormalities. PubMed ID: 34631954

The DNA sequence, annotation and analysis of human chromosome 3. PubMed ID: 16641997

Database document:

PubMed ID: 14702039

PubMed ID: 16641997

PubMed ID: 12503609

PubMed ID: 10481931

PubMed ID: 15385642

PubMed ID: 24740569

PubMed ID: 26206488

PubMed ID: 22782511

PubMed ID: 24700542

PubMed ID: 26085604

PubMed ID: 28971144

PubMed ID: 30975617

PubMed ID: 33704598

PubMed ID: 34631954

PubMed ID: 16641997