ADCY3 - adenylate cyclase 3 Gene

Also Known as AC3; AC-III; BMIQ19

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 109

About ADCY3

Cytogenetic location: 2p23.3 Genomic coordinates (GRCh38): 2:24,819,169-24,920,237 (from NCBI)

This gene has 13 transcripts (splice variants), 264 orthologues, 17 paralogues and is associated with 1 phenotype. Ubiquitous expression in placenta (RPKM 27.7), ovary (RPKM 14.8) and 23 other tissues.

Summary

This gene encodes adenylyl cyclase 3 which is a membrane-associated enzyme and catalyzes the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This protein appears to be widely expressed in various human tissues and may be involved in a number of physiological and pathophysiological metabolic processes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

ADCY3 Products (7)

mRNA Protein Name
NM_001320613.2 NP_001307542.1 adenylate cyclase type 3 isoform 1
NM_001377128.1 NP_001364057.1 adenylate cyclase type 3 isoform 3
NM_001377129.1 NP_001364058.1 adenylate cyclase type 3 isoform 4
NM_001377130.1 NP_001364059.1 adenylate cyclase type 3 isoform 5
NM_001377131.1 NP_001364060.1 adenylate cyclase type 3 isoform 6
NM_001377132.1 NP_001364061.1 adenylate cyclase type 3 isoform 2
NM_004036.5 NP_004027.2 adenylate cyclase type 3 isoform 2
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
11549699 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
11549699 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ADCY3 Protein Structure

Guanylate_cyc

Guanylate_cyc: Adenylate and Guanylate cyclase catalytic domain (311 - 472)

Guanylate_cyc

Guanylate_cyc: Adenylate and Guanylate cyclase catalytic domain (915 - 1120)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1144 a.a.
Protein Preferred Names Protein Names

adenylate cyclase type 3

  • ATP pyrophosphate-lyase 3

Related Diseases

Diseases Alias
Body Mass Index Quantitative Trait Locus 19
  • Obesity

  • BMIQ19

  • Obesity, Susceptibility To

  • Obesity, Susceptibility To, Bmiq19

  • Obesity Bmiq19

  • {Obesity, Susceptibility To, Bmiq19}

Body Mass Index Quantitative Trait Locus 11
  • OBESITY

  • Obesity, Susceptibility To

  • Leanness, Inherited

  • Obesity, Susceptibility To, Bmiq11

  • Obesity, Mild, Early-Onset

  • Obesity, Association With

  • Obesity, Early-Onset, Susceptibility To

  • Obesity, Severe

  • Obesity, Severe, And Type Ii Diabetes

  • Obesity, Late-Onset

  • Obesity , Susceptibility To

  • BMIQ11

  • Obesity Bmiq11

  • Obesity, Early-Onset

  • Simple Obesity Nos

  • Excess Fat

  • Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

  • Adiposis

Amelogenesis Imperfecta, Type Iiic
  • AI3C

  • Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Recessive

  • Amelogenesis Imperfecta Type 3c

  • Amelogenesis Imperfecta, Type 3c

  • Amelogenesis Imperfecta Type Iiic

  • Autosomal Recessive Amelogenesis Imperfecta Hypocalcification Type

  • Amelogenesis Imperfecta 3c

Central Corneal Ulcer
Joubert Syndrome 24
  • JBTS24

Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
  • Catecholaminergic Polymorphic Ventricular Tachycardia 2

  • CPVT2

  • Vtsip

  • Bidirectional Tachycardia

  • Stress-Induced Polymorphic Ventricular Tachycardia

  • Ventricular Tachycardia, Stress-Induced Polymorphic

  • Cvpt2

  • Double Tachycardia Induced By Catecholamines

  • Malignant Paroxysmal Ventricular Tachycardia

  • Multifocal Ventricular Premature Beats

  • Paroxysmal Ventricular Fibrillation

  • Syncopal Paroxysmal Tachycardia

  • Syncopal Tachyarythmia

  • Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 2

  • Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

  • Multifocal Pvcs

  • Multifocal Premature Ventricular Beats

  • Paroxysmal Familial Ventricular Fibrillation

Capillary Malformations, Congenital
  • Familial Multiple Nevi Flammei

  • Nevi Flammei, Familial Multiple

  • CMC

  • Port-Wine Stain

  • Capillary Malformations

  • Cmal

  • Familial Multiple Port-Wine Stains

  • Capillary Malformation

  • Capillary Malformations, Congenital, 1, Somatic, Mosaic

  • Congenital Capillary Malformations

  • Port-Wine Stain Familial Multiple

  • Hereditary Capillary Malformations

  • Capillary Malformations, Hereditary

  • Capillary Malformations, Congenital, Type 1, Somatic, Mosaic

  • Strawberry Nevus Of Skin

  • Naevus Flammeus

Joubert Syndrome 1
  • Joubert Syndrome

  • Jbts

  • Cerebellooculorenal Syndrome 1

  • JBTS1

  • Joubert-Boltshauser Syndrome

  • Cerebelloparenchymal Disorder Iv

  • Cpd4

  • Cors1

  • Joubert Syndrome And Related Disorders

  • Jsrd

  • Familial Aplasia Of The Vermis

  • Joubert Syndrome Related Disorders

  • Js

  • Cerebellar Vermis Agenesis

  • Cerebelloparenchymal Disorder 4

  • Agenesis Of Cerebellar Vermis

  • Cerebello-Oculo-Renal Syndrome

  • Cors

  • Joubert-Bolthauser Syndrome

  • Cpd Iv

  • Classic Joubert Syndrome

  • Joubert Syndrome Type A

  • Pure Joubert Syndrome

  • Cerebello-Oculo-Renal Syndrome 1

  • Joubert Syndrome-1

  • Joubert Syndrome, Type 1

  • Joubert'S Syndrome

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris ADCY3 VGNC VGNC:37620
Mus musculus ADCY3 MGD MGI:99675
Macaca mulatta ADCY3 VGNC VGNC:69511
Felis catus ADCY3 VGNC VGNC:59616
Bos taurus ADCY3 VGNC VGNC:25644
Rattus norvegicus ADCY3 RGD RGD:71009
Others ADCY3 NCBI