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This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq, Aug 2012]
[中文简述(自动翻译):]  此位点有一个非常复杂的印记的表达模式。它会引起母体时,从四个备选推动者和5‘外显子衍生父本和biallelically表达转录。一些转录在其5‘外显子包含一个差异甲基化区域(DMR),并将该DMR在印迹基因中常见的,并与转录表达相关。反义转录物是从在相对的链的重叠位点制备。一个从该位点,和反义转录物所产生的转录物,是父系表示非编码RNA,并在该区域可调节压印。另外,转录物中的一个含有第二重叠的ORF,其编码结构上无关的蛋白质 - 亚历。下游的外显子的选择性剪接还观察到,其导致不同形式的刺激G蛋白α亚基,经典信号转导通路连接与腺苷酸环化酶的激活和各种细胞反应变量的受体 - 配体相互作用的关键元件。已发现该基因编码不同亚型的多个抄本变形。突变这个基因导致假性1A型假性1B型,奥尔布赖特的遗传性骨病,pseudopseudohypoparathyroidism,麦 - Albright综合征,进行性osseus发育异常,骨多发性骨纤维异常增殖症,有的垂体瘤。 [由RefSeq的,2012年8月提供]
GNAS基因(以及对应的蛋白质)的细胞分布位置:
GNAS基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Osteoma cutis | 0.485157396 | 19 | 1 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
| Pseudohypoparathyroidism, Type Ia | 0.46605842 | 103 | 0 | BeFree_CTD_human_MGD_ORPHANET_UNIPROT |
| Pseudopseudohypoparathyroidism | 0.445700279 | 22 | 6 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET |
| McCune-Albright Syndrome | 0.370586233 | 42 | 5 | BeFree_CLINVAR_ORPHANET_UNIPROT |
| Pseudohypoparathyroidism | 0.302971597 | 75 | 9 | BeFree_CLINVAR_CTD_human_GAD_LHGDN |
| Polyostotic fibrous dysplasia | 0.248358616 | 7 | 0 | BeFree_CTD_human_GAD_LHGDN_ORPHANET |
| Growth Hormone-Secreting Pituitary Adenoma | 0.243267234 | 4 | 3 | BeFree_CLINVAR_CTD_human_LHGDN |
| Pseudohypoparathyroidism Type 1B | 0.241900093 | 7 | 0 | BeFree_CTD_human_ORPHANET |
| Pseudohypoparathyroidism Type 1C | 0.240814326 | 3 | 0 | BeFree_ORPHANET_UNIPROT |
| Acth-Independent Macronodular Adrenal Hyperplasia | 0.24 | 1 | 2 | CLINVAR_UNIPROT |
| Hypertensive disease | 0.136002596 | 7 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Albright's hereditary osteodystrophy | 0.132410381 | 40 | 0 | BeFree_CTD_human_GAD |
| PSEUDOHYPOPARATHYROIDISM, TYPE IB | 0.130043349 | 37 | 0 | BeFree_CLINVAR |
| Precocious Puberty | 0.126534468 | 7 | 1 | BeFree_CTD_human_LHGDN |
| Cholangiocarcinoma | 0.123267234 | 4 | 0 | BeFree_CTD_human_LHGDN |
| Heterotopic Ossification | 0.122367032 | 1 | 0 | CTD_human_GAD |
| Acromegaly | 0.121900093 | 7 | 0 | BeFree_CTD_human |
| Endocrine System Diseases | 0.121628651 | 8 | 0 | BeFree_CTD_human |
| Brachydactyly | 0.121357209 | 6 | 0 | BeFree_CTD_human |
| Obesity | 0.121085767 | 4 | 1 | BeFree_CTD_human |
| Neuroblastoma | 0.120542884 | 2 | 0 | BeFree_CTD_human |
| Adrenal Gland Neoplasms | 0.120271442 | 2 | 0 | BeFree_CTD_human |
| Polycystic Ovary Syndrome | 0.120271442 | 2 | 1 | BeFree_CTD_human |
| Anoxia | 0.12 | 1 | 0 | CTD_human |
| Fibrous Dysplasia, Monostotic | 0.12 | 0 | 0 | ORPHANET |
| Hemorrhagic Disorders | 0.12 | 1 | 0 | CTD_human |
| Insulin Resistance | 0.12 | 1 | 0 | CTD_human |
| Liver Diseases, Parasitic | 0.12 | 1 | 0 | CTD_human |
| Pseudohypoaldosteronism | 0.12 | 0 | 0 | CTD_human |
| Respiration Disorders | 0.12 | 1 | 0 | CTD_human |
| Substance Withdrawal Syndrome | 0.12 | 1 | 0 | CTD_human |
| Tachycardia | 0.12 | 1 | 0 | CTD_human |
| Sex Cord-Stromal Tumor | 0.12 | 0 | 2 | CLINVAR |
| Cafe-au-Lait Spots | 0.12 | 2 | 0 | CTD_human |
| Pituitary-dependent Cushing's disease | 0.12 | 0 | 2 | CLINVAR |
| Biliary calculi | 0.12 | 1 | 0 | CTD_human |
| ACTH-Secreting Pituitary Adenoma | 0.12 | 0 | 0 | CTD_human |
| Intellectual Disability | 0.12 | 1 | 0 | CTD_human |
| Schizophrenia | 0.085362824 | 1 | 1 | BeFree_GAD_LHGDN_MGD |
| Fibrous Dysplasia | 0.00868614 | 32 | 1 | BeFree |
| Adenoma | 0.008620127 | 15 | 0 | BeFree_GAD_LHGDN |
| Vasovagal syncope | 0.008001298 | 3 | 0 | BeFree_GAD_LHGDN |
| Osteitis Fibrosa Disseminata | 0.007262917 | 10 | 0 | BeFree_GAD_LHGDN |
| Chronic Lymphocytic Leukemia | 0.005634266 | 2 | 1 | BeFree_GAD_LHGDN |
| Malaria | 0.005362824 | 2 | 0 | BeFree_GAD_LHGDN |
| Osteoma | 0.005362824 | 3 | 0 | BeFree_GAD_LHGDN |
| Hypopharyngeal Neoplasms | 0.005091382 | 1 | 0 | GAD_LHGDN |
| Hypotension, Orthostatic | 0.005091382 | 1 | 0 | GAD_LHGDN |
| Prostatic Neoplasms | 0.005091382 | 2 | 0 | GAD_LHGDN |
| Squamous cell carcinoma | 0.005005506 | 3 | 0 | BeFree_GAD |
| Pituitary Neoplasms | 0.004267125 | 7 | 0 | BeFree_GAD |
| Pancreatic Neoplasm | 0.003724241 | 6 | 0 | BeFree_GAD |
| Thyroid Neoplasm | 0.003538676 | 4 | 0 | BeFree_LHGDN |
| Colorectal Cancer | 0.003452799 | 4 | 1 | BeFree_GAD |
| melanoma | 0.003181358 | 3 | 1 | BeFree_GAD |
| Malignant neoplasm of esophagus | 0.003181358 | 3 | 1 | BeFree_GAD |
| Migraine Disorders | 0.002995792 | 1 | 1 | BeFree_LHGDN |
| Malignant neoplasm of urinary bladder | 0.002909916 | 2 | 1 | BeFree_GAD |
| Malignant neoplasm of breast | 0.002909916 | 3 | 0 | BeFree_GAD |
| Myxoma | 0.002909916 | 2 | 0 | BeFree_GAD |
| Diarrhea | 0.00272435 | 1 | 0 | LHGDN |
| Head and Neck Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Hyperplasia | 0.00272435 | 1 | 0 | LHGDN |
| Disease Progression | 0.00272435 | 1 | 0 | LHGDN |
| Osteodystrophy | 0.002714419 | 10 | 0 | BeFree |
| Tumors of Adrenal Cortex | 0.002638474 | 2 | 0 | BeFree_GAD |
| Bone neoplasms | 0.002638474 | 2 | 0 | BeFree_GAD |
| Cushing Syndrome | 0.002638474 | 2 | 0 | BeFree_GAD |
| Malignant neoplasm of stomach | 0.002638474 | 1 | 1 | BeFree_GAD |
| Osteosarcoma | 0.002638474 | 2 | 0 | BeFree_GAD |
| Adenocarcinoma | 0.002442977 | 9 | 0 | BeFree |
| Adenoma, Chromophobe | 0.002367032 | 1 | 0 | GAD |
| Adenoma, Acidophil | 0.002367032 | 1 | 0 | GAD |
| Alcoholic Intoxication, Chronic | 0.002367032 | 1 | 0 | GAD |
| Asthma | 0.002367032 | 1 | 0 | GAD |
| Atherosclerosis | 0.002367032 | 1 | 0 | GAD |
| Cerebrovascular Disorders | 0.002367032 | 1 | 0 | GAD |
| Fibrosarcoma | 0.002367032 | 1 | 0 | GAD |
| Nodular Goiter | 0.002367032 | 1 | 0 | GAD |
| Laryngeal neoplasm | 0.002367032 | 1 | 0 | GAD |
| leukemia | 0.002367032 | 1 | 0 | GAD |
| Malaria, Falciparum | 0.002367032 | 1 | 0 | GAD |
| Neoplasm Metastasis | 0.002367032 | 1 | 0 | GAD |
| Neoplasm Recurrence, Local | 0.002367032 | 1 | 0 | GAD |
| Oropharyngeal Neoplasms | 0.002367032 | 1 | 0 | GAD |
| Skin Neoplasms | 0.002367032 | 1 | 0 | GAD |
| Soft Tissue Neoplasms | 0.002367032 | 1 | 0 | GAD |
| Thyroid Nodule | 0.002367032 | 1 | 0 | GAD |
| Thyrotoxicosis | 0.002367032 | 1 | 0 | GAD |
| Deep Vein Thrombosis | 0.002367032 | 1 | 0 | GAD |
| Malignant neoplasm of liver | 0.002367032 | 1 | 0 | GAD |
| Brain hemorrhage | 0.002367032 | 1 | 0 | GAD |
| Malignant neoplasm of kidney | 0.002367032 | 1 | 0 | GAD |
| Autonomic nervous system disorders | 0.002367032 | 1 | 0 | GAD |
| Systemic arterial pressure | 0.002367032 | 1 | 0 | GAD |
| Takotsubo Cardiomyopathy | 0.002367032 | 1 | 0 | GAD |
| AUTONOMIC NERVOUS SYSTEM DYSFUNCTION | 0.002367032 | 1 | 0 | GAD |
| Pituitary Diseases | 0.002171535 | 8 | 0 | BeFree |
| Mucinous Adenocarcinoma | 0.001900093 | 7 | 0 | BeFree |
| Carcinogenesis | 0.001900093 | 7 | 0 | BeFree |
| Colorectal Carcinoma | 0.001628651 | 6 | 1 | BeFree |
| Congenital Hypothyroidism | 0.001628651 | 6 | 0 | BeFree |
| Pituitary Adenoma | 0.001628651 | 6 | 1 | BeFree |
| Hyperphosphatemia (disorder) | 0.001628651 | 6 | 0 | BeFree |
| Endemic Cretinism | 0.001628651 | 6 | 0 | BeFree |
| Mucinous Neoplasm | 0.001357209 | 5 | 0 | BeFree |
| Pancreatic Ductal Adenocarcinoma | 0.001357209 | 5 | 0 | BeFree |
| Carney Complex | 0.001085767 | 4 | 0 | BeFree |
| Thyroid Hormone Resistance Syndrome | 0.001085767 | 4 | 0 | BeFree |
| HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 | 0.001085767 | 4 | 0 | BeFree |
| Beckwith-Wiedemann Syndrome | 0.000814326 | 3 | 0 | BeFree |
| Colorectal Neoplasms | 0.000814326 | 3 | 0 | BeFree |
| Esophageal Neoplasms | 0.000814326 | 3 | 1 | BeFree |
| Pancreatic Cyst | 0.000814326 | 3 | 0 | BeFree |
| polyps | 0.000814326 | 3 | 0 | BeFree |
| Esophageal carcinoma | 0.000814326 | 3 | 1 | BeFree |
| Adenoma, Villous | 0.000814326 | 3 | 0 | BeFree |
| Papillary neoplasm | 0.000814326 | 3 | 0 | BeFree |
| Prostate carcinoma | 0.000814326 | 3 | 1 | BeFree |
| Intramuscular Myxoma | 0.000814326 | 3 | 0 | BeFree |
| Bone Diseases | 0.000542884 | 2 | 1 | BeFree |
| Non-Small Cell Lung Carcinoma | 0.000542884 | 2 | 1 | BeFree |
| Renal Cell Carcinoma | 0.000542884 | 2 | 1 | BeFree |
| Colonic Neoplasms | 0.000542884 | 2 | 0 | BeFree |
| Cyst | 0.000542884 | 2 | 0 | BeFree |
| Endocrine Gland Neoplasms | 0.000542884 | 2 | 0 | BeFree |
| Hypothyroidism | 0.000542884 | 2 | 0 | BeFree |
| Medulloblastoma | 0.000542884 | 2 | 0 | BeFree |
| Multiple Endocrine Neoplasia Type 1 | 0.000542884 | 2 | 0 | BeFree |
| Metabolic Diseases | 0.000542884 | 2 | 0 | BeFree |
| Obesity, Morbid | 0.000542884 | 2 | 0 | BeFree |
| Phocomelia | 0.000542884 | 2 | 0 | BeFree |
| Madelung Deformity | 0.000542884 | 2 | 0 | BeFree |
| Toxic multinodular goiter | 0.000542884 | 2 | 0 | BeFree |
| Autoimmune thyroid disease | 0.000542884 | 2 | 0 | BeFree |
| Tumor Progression | 0.000542884 | 2 | 1 | BeFree |
| Growth Hormone-Producing Pituitary Gland Neoplasm | 0.000542884 | 2 | 0 | BeFree |
| Conventional (Clear Cell) Renal Cell Carcinoma | 0.000542884 | 2 | 1 | BeFree |
| Solid tumour | 0.000542884 | 2 | 1 | BeFree |
| Adrenocortical hyperplasia | 0.000542884 | 2 | 0 | BeFree |
| Intrahepatic Cholangiocarcinoma | 0.000542884 | 2 | 1 | BeFree |
| Malignant neoplasm of prostate | 0.000542884 | 2 | 1 | BeFree |
| Biliary Intraepithelial Neoplasia | 0.000542884 | 2 | 0 | BeFree |
| Breast Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Carcinoma of bladder | 0.000542884 | 2 | 1 | BeFree |
| Fibromyxosarcoma | 0.000542884 | 2 | 0 | BeFree |
| Ameloblastoma | 0.000271442 | 1 | 0 | BeFree |
| Borderline Personality Disorder | 0.000271442 | 1 | 0 | BeFree |
| Bronchopulmonary Dysplasia | 0.000271442 | 1 | 0 | BeFree |
| Calcinosis cutis | 0.000271442 | 1 | 0 | BeFree |
| Malignant tumor of colon | 0.000271442 | 1 | 1 | BeFree |
| Carcinoma, Transitional Cell | 0.000271442 | 1 | 1 | BeFree |
| Developmental Disabilities | 0.000271442 | 1 | 0 | BeFree |
| Cystic Fibrosis | 0.000271442 | 1 | 0 | BeFree |
| Diabetes Mellitus | 0.000271442 | 1 | 0 | BeFree |
| Dwarfism | 0.000271442 | 1 | 0 | BeFree |
| Enchondromatosis | 0.000271442 | 1 | 0 | BeFree |
| Gastrointestinal Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Cardiac Arrest | 0.000271442 | 1 | 0 | BeFree |
| Hyperparathyroidism, Secondary | 0.000271442 | 1 | 0 | BeFree |
| Liver diseases | 0.000271442 | 1 | 0 | BeFree |
| Maffucci Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Mental Retardation | 0.000271442 | 1 | 0 | BeFree |
| Mucocele | 0.000271442 | 1 | 0 | BeFree |
| Mycosis Fungoides | 0.000271442 | 1 | 0 | BeFree |
| Multiple Endocrine Neoplasia | 0.000271442 | 1 | 0 | BeFree |
| Nodule | 0.000271442 | 1 | 0 | BeFree |
| Ovarian Diseases | 0.000271442 | 1 | 0 | BeFree |
| Parapsoriasis | 0.000271442 | 1 | 0 | BeFree |
| Peutz-Jeghers Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Pheochromocytoma | 0.000271442 | 1 | 0 | BeFree |
| Prolactinoma | 0.000271442 | 1 | 0 | BeFree |
| Protein Deficiency | 0.000271442 | 1 | 0 | BeFree |
| Dermatologic disorders | 0.000271442 | 1 | 0 | BeFree |
| Gestational Diabetes | 0.000271442 | 1 | 0 | BeFree |
| Essential Hypertension | 0.000271442 | 1 | 0 | BeFree |
| Ossifying Fibroma | 0.000271442 | 1 | 0 | BeFree |
| Parosteal Osteosarcoma | 0.000271442 | 1 | 0 | BeFree |
| Cystadenoma, Serous | 0.000271442 | 1 | 0 | BeFree |
| Neuroendocrine Tumors | 0.000271442 | 1 | 0 | BeFree |
| Acrodysostosis | 0.000271442 | 1 | 1 | BeFree |
| Extrapyramidal sign | 0.000271442 | 1 | 0 | BeFree |
| Islet Cell Tumor | 0.000271442 | 1 | 0 | BeFree |
| Brachymetacarpia | 0.000271442 | 1 | 0 | BeFree |
| Ectopic gastric tissue | 0.000271442 | 1 | 0 | BeFree |
| Cryptogenic sexual precocity | 0.000271442 | 1 | 1 | BeFree |
| Idiopathic parathyroidism | 0.000271442 | 1 | 0 | BeFree |
| Gastric Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
| Squamous cell carcinoma of the hypopharynx | 0.000271442 | 1 | 1 | BeFree |
| Toxic thyroid adenoma | 0.000271442 | 1 | 0 | BeFree |
| Tubulovillous adenoma | 0.000271442 | 1 | 0 | BeFree |
| Pseudohypoparathyroidism and pseudopseudohypoparathyroidism | 0.000271442 | 1 | 0 | BeFree |
| Nephrolithiasis | 0.000271442 | 1 | 0 | BeFree |
| Chronic Kidney Insufficiency | 0.000271442 | 1 | 0 | BeFree |
| Oropharyngeal disorders | 0.000271442 | 1 | 1 | BeFree |
| Epithelial ovarian cancer | 0.000271442 | 1 | 0 | BeFree |
| renin-dependent hypertension | 0.000271442 | 1 | 0 | BeFree |
| Colon Carcinoma | 0.000271442 | 1 | 1 | BeFree |
| Central neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
| hyperparathyroid | 0.000271442 | 1 | 0 | BeFree |
| jaffe-campanacci syndrome | 0.000271442 | 1 | 0 | BeFree |
| Invasive breast carcinoma | 0.000271442 | 1 | 1 | BeFree |
| Cardiomyopathies | 0.000271442 | 1 | 0 | BeFree |
| Gastric hyperplastic polyp | 0.000271442 | 1 | 0 | BeFree |
| Lymphoepithelial cyst | 0.000271442 | 1 | 0 | BeFree |
| Pancreatic intraepithelial neoplasia | 0.000271442 | 1 | 0 | BeFree |
| Adenocarcinoma of large intestine | 0.000271442 | 1 | 0 | BeFree |
| Colorectal Villous Adenoma | 0.000271442 | 1 | 0 | BeFree |
| Invasive Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Testicular Germ Cell Tumor | 0.000271442 | 1 | 0 | BeFree |
| Well Differentiated Pancreatic Endocrine Tumor | 0.000271442 | 1 | 0 | BeFree |
| Adamantinoma | 0.000271442 | 1 | 0 | BeFree |
| Pancreatic Intraductal Papillary-Mucinous Neoplasm | 0.000271442 | 1 | 0 | BeFree |
| Ductal Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Chronic Kidney Diseases | 0.000271442 | 1 | 0 | BeFree |
| Osteofibrous Dysplasia | 0.000271442 | 1 | 0 | BeFree |
| Sparsely Granulated Pituitary Gland Somatotroph Adenoma | 0.000271442 | 1 | 0 | BeFree |
| NIEMANN-PICK DISEASE, TYPE C2 | 0.000271442 | 1 | 0 | BeFree |
| Metaphyseal acroscyphodysplasia | 0.000271442 | 1 | 0 | BeFree |
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