GNAS (GNAS complex locus)
- symbol:
- GNAS
- locus group:
- protein-coding gene
- location:
- 20q13.32
- gene_family:
- Granins
- alias symbol:
- NESP55|NESP|GNASXL|GPSA|SCG6|SgVI
- alias name:
- secretogranin VI|G protein subunit…
- entrez id:
- 2778
- ensembl gene id:
- ENSG00000087460
- ucsc gene id:
- uc061ybx.1
- refseq accession:
- NM_000516
- hgnc_id:
- HGNC:4392
- approved reserved:
- 1990-06-29
GNAS基因编码G蛋白α亚基（Gsα），属于G蛋白偶联受体（GPCR）信号通路中的关键成员，属于GNAS基因家族。这个家族的特点是编码异源三聚体G蛋白的α亚基，参与细胞外信号转导，通过激活腺苷酸环化酶（AC）增加细胞内cAMP水平，进而调控多种生理过程如代谢、细胞生长和激素分泌。GNAS基因产物Gsα在多种组织中表达，尤其在激素敏感组织如垂体、甲状腺和骨组织中起核心作用。GNAS基因的突变可导致多种疾病，最常见的是McCune-Albright综合征（MAS），由体细胞激活突变引起，表现为多发性骨纤维发育不良、皮肤咖啡斑和内分泌亢进（如性早熟）。相反，父源或母源GNAS等位基因的印记缺陷或失活突变可导致假性甲状旁腺功能减退症（PHP），表现为对甲状旁腺激素（PTH）抵抗，引发低钙血症和高磷血症。GNAS基因的过表达通常与肿瘤发生相关，如垂体腺瘤和甲状腺癌，因持续激活cAMP通路促进细胞增殖；而表达降低则可能干扰GPCR介导的信号传导，影响代谢和骨骼发育。该基因的印记特性（母源表达为主）使得突变效应与亲本来源相关，例如母源突变导致PHP1A，而父源突变通常无症状。GNAS家族成员（如GNAS、GNAL）均通过G蛋白机制传递受体信号，但Gsα（GNAS编码）特异性介导刺激性信号，其功能异常会广泛影响能量代谢、钙磷平衡及发育进程。
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]
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]
基因本体信息
GNAS基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
GNAS基因的本体（GO）信息：
| 名称 |
|---|
| 4015 Rap1 signaling pathway [PATH:hsa04015] |
| 4020 Calcium signaling pathway [PATH:hsa04020] |
| 4024 cAMP signaling pathway [PATH:hsa04024] |
| 4540 Gap junction [PATH:hsa04540] |
| 4611 Platelet activation [PATH:hsa04611] |
| 4911 Insulin secretion [PATH:hsa04911] |
| 4922 Glucagon signaling pathway [PATH:hsa04922] |
| 4912 GnRH signaling pathway [PATH:hsa04912] |
| 4913 Ovarian Steroidogenesis [PATH:hsa04913] |
| 4915 Estrogen signaling pathway [PATH:hsa04915] |
| 4921 Oxytocin signaling pathway [PATH:hsa04921] |
| 4918 Thyroid hormone synthesis [PATH:hsa04918] |
| 4916 Melanogenesis [PATH:hsa04916] |
| 4261 Adrenergic signaling in cardiomyocytes [PATH:hsa04261] |
| 4270 Vascular smooth muscle contraction [PATH:hsa04270] |
| 4970 Salivary secretion [PATH:hsa04970] |
| 4971 Gastric acid secretion [PATH:hsa04971] |
| 4972 Pancreatic secretion [PATH:hsa04972] |
| 4976 Bile secretion [PATH:hsa04976] |
| 4962 Vasopressin-regulated water reabsorption [PATH:hsa04962] |
| 4961 Endocrine and other factor-regulated calcium reabsorption [PATH:hsa04961] |
| 4724 Glutamatergic synapse [PATH:hsa04724] |
| 4728 Dopaminergic synapse [PATH:hsa04728] |
| 4726 Serotonergic synapse [PATH:hsa04726] |
| 4730 Long-term depression [PATH:hsa04730] |
| 4742 Taste transduction [PATH:hsa04742] |
| 4750 Inflammatory mediator regulation of TRP channels [PATH:hsa04750] |
| 4713 Circadian entrainment [PATH:hsa04713] |
| 5200 Pathways in cancer [PATH:hsa05200] |
| 5030 Cocaine addiction [PATH:hsa05030] |
| 5031 Amphetamine addiction [PATH:hsa05031] |
| 5032 Morphine addiction [PATH:hsa05032] |
| 5034 Alcoholism [PATH:hsa05034] |
| 5414 Dilated cardiomyopathy (DCM) [PATH:hsa05414] |
| 5110 Vibrio cholerae infection [PATH:hsa05110] |
| 5146 Amoebiasis [PATH:hsa05146] |
| 5142 Chagas disease (American trypanosomiasis) [PATH:hsa05142] |
| 名称 |
|---|
| Aquaporin-mediated transport |
| Class B/2 (Secretin family receptors) |
| G alpha (i) signalling events |
| G alpha (s) signalling events |
| G alpha (z) signalling events |
| Glucagon signaling in metabolic regulation |
| Glucagon-like Peptide-1 (GLP1) regulates insulin secretion |
| Glucagon-type ligand receptors |
| GPCR downstream signaling |
| GPCR ligand binding |
| Hedgehog 'off' state |
| Hemostasis |
| Integration of energy metabolism |
| Metabolism |
| PKA activation in glucagon signalling |
| Platelet homeostasis |
| Prostacyclin signalling through prostacyclin receptor |
| Regulation of insulin secretion |
| Signal Transduction |
| Signaling by GPCR |
| Signaling by Hedgehog |
| Transmembrane transport of small molecules |
| Vasopressin regulates renal water homeostasis via Aquaporins |
| 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 |
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