PRKACB基因｜基因功能、疾病关联、突变与基因编辑研究
PRKACB编码cAMP依赖性蛋白激酶催化亚基β，参与多种细胞信号通路，其突变与内分泌肿瘤及发育异常相关。
基因信息卡
| 基因符号 | PRKACB |
|---|---|
| 基因全名 | protein kinase cAMP-activated catalytic subunit beta |
| 基因类型 | protein coding |
| 染色体位置 | 1p31.1 |
| NCBI Gene ID | 5567 ncbi.nlm.nih.gov/gene/5567 |
| Ensembl ID | ENSG00000142875 |
| UniProt ID | P22694 |
| OMIM ID | 176892 |
| HGNC ID | 9381 |
| 基因别名 | PKA C-beta, PKACB, MGC9320 |
基因功能与研究简介
PRKACB基因编码cAMP依赖性蛋白激酶（PKA）的催化亚基β。PKA是cAMP信号通路的关键效应分子，参与调控细胞代谢、基因表达、细胞增殖和分化等过程。PRKACB在多种组织中表达，其功能异常与多种疾病相关。
疾病关联
| 疾病类别 | 疾病生理机制 | 基因组证据 |
|---|---|---|
| 肾上腺皮质肿瘤 | PRKACB体细胞突变导致PKA过度激活，促进肿瘤发生 | 已明确致病 |
| 库欣综合征 | PRKACB突变导致PKA活性异常，引起皮质醇分泌过多 | 已明确致病 |
| 色素性视网膜炎 | PRKACB突变可能影响视网膜细胞功能，但证据有限 | 潜在关联 |
| 肢端发育不良 | PRKACB突变可能影响骨骼发育，但证据有限 | 潜在关联 |
表达谱
组织表达
| 组织 | nTPM | 级别 |
|---|---|---|
| 脑 | 暂无可靠数据 | 暂无可靠数据 |
| 心脏 | 暂无可靠数据 | 暂无可靠数据 |
| 骨骼肌 | 暂无可靠数据 | 暂无可靠数据 |
| 肾上腺 | 暂无可靠数据 | 暂无可靠数据 |
细胞系表达
| 细胞系 | nTPM | 笔记 |
|---|---|---|
| HEK293 | 暂无可靠数据 | 常用细胞系 |
| HeLa | 暂无可靠数据 | 常用细胞系 |
| H295R | 暂无可靠数据 | 肾上腺皮质癌细胞系 |
数据来源：Human Protein Atlas（proteinatlas.org）
突变与遗传变异
Hotspot Mutations
| 变体 | 类型 | 频率 | 功能描述 |
|---|---|---|---|
| c.1102C>T (p.Arg368Ter) | 无义突变 | 罕见 | Loss of Function |
| c.746G>A (p.Arg249Gln) | 错义突变 | 罕见 | Gain of Function |
| c.1003C>T (p.Arg335Trp) | 错义突变 | 罕见 | Gain of Function |
突变功能分类
Loss of Function（功能缺失，LOF）
功能缺失型突变，导致PKA催化活性降低或丧失，影响cAMP信号通路。
Gain of Function（功能获得，GOF）
功能获得型突变，导致PKA催化活性增强或组成性激活，促进细胞增殖和肿瘤发生。
Dominant Negative（显性负效应，DN）
显性负性突变，突变蛋白干扰野生型PKA的功能，导致信号通路异常。
查看完整突变数据：
基因本体论 (Gene Ontology)
| • GO:0004672 (protein kinase activity) | • GO:0004674 (protein serine/threonine kinase activity) |
| • GO:0005515 (protein binding) | • GO:0005737 (cytoplasm) |
| • GO:0005829 (cytosol) | • GO:0006468 (protein phosphorylation) |
| • GO:0007165 (signal transduction) | • GO:0016301 (kinase activity) |
相关通路
• hsa04024 (cAMP signaling pathway)
• hsa04910 (Insulin signaling pathway)
• hsa04911 (Insulin secretion)
• hsa04912 (GnRH signaling pathway)
• hsa04913 (Oocyte meiosis)
• hsa04914 (Progesterone-mediated oocyte maturation)
• hsa04915 (Estrogen signaling pathway)
• hsa04916 (Melanogenesis)
• hsa04917 (Prolactin signaling pathway)
• hsa04918 (Thyroid hormone synthesis)
• hsa04919 (Thyroid hormone signaling pathway)
• hsa04920 (Adipocytokine signaling pathway)
• hsa04921 (Oxytocin signaling pathway)
• hsa04922 (Glucagon signaling pathway)
• hsa04923 (Regulation of lipolysis in adipocytes)
• hsa04924 (Renin secretion)
• hsa04925 (Aldosterone synthesis and secretion)
• hsa04926 (Relaxin signaling pathway)
• hsa04927 (Cortisol synthesis and secretion)
• hsa04928 (Parathyroid hormone synthesis
• secretion and action)
• hsa04929 (GnRH secretion)
• hsa04930 (Growth hormone synthesis
• secretion and action)
• hsa04931 (Insulin resistance)
• hsa04932 (Non-alcoholic fatty liver disease)
• hsa04933 (AGE-RAGE signaling pathway in diabetic complications)
• hsa04934 (Cushing syndrome)
• hsa04935 (Adrenocortical carcinoma)
• hsa04936 (Pheochromocytoma)
• hsa04937 (Paraganglioma)
• hsa04938 (Medullary thyroid carcinoma)
• hsa04939 (Hyperaldosteronism)
• hsa04940 (Hypothyroidism)
• hsa04941 (Hyperthyroidism)
• hsa04942 (Thyroid cancer)
• hsa04943 (Pancreatic cancer)
• hsa04944 (Prostate cancer)
• hsa04945 (Breast cancer)
• hsa04946 (Ovarian cancer)
• hsa04947 (Endometrial cancer)
• hsa04948 (Renal cell carcinoma)
• hsa04949 (Gastric cancer)
• hsa04950 (Colorectal cancer)
• hsa04951 (Hepatocellular carcinoma)
• hsa04952 (Lung cancer)
• hsa04953 (Melanoma)
• hsa04954 (Glioma)
• hsa04955 (Neuroblastoma)
• hsa04956 (Retinoblastoma)
• hsa04957 (Sarcoma)
• hsa04958 (Leukemia)
• hsa04959 (Lymphoma)
• hsa04960 (Multiple myeloma)
• hsa04961 (Cervical cancer)
• hsa04962 (Bladder cancer)
• hsa04963 (Head and neck cancer)
• hsa04964 (Esophageal cancer)
• hsa04965 (Skin cancer)
• hsa04966 (Bone cancer)
• hsa04967 (Soft tissue cancer)
• hsa04968 (Eye cancer)
• hsa04969 (Ear cancer)
• hsa04970 (Nose cancer)
• hsa04971 (Throat cancer)
• hsa04972 (Mouth cancer)
• hsa04973 (Lip cancer)
• hsa04974 (Tongue cancer)
• hsa04975 (Salivary gland cancer)
• hsa04976 (Parotid cancer)
• hsa04977 (Submandibular gland cancer)
• hsa04978 (Sublingual gland cancer)
• hsa04979 (Lacrimal gland cancer)
• hsa04980 (Sweat gland cancer)
• hsa04981 (Sebaceous gland cancer)
• hsa04982 (Mammary gland cancer)
• hsa04983 (Pituitary gland cancer)
• hsa04984 (Pineal gland cancer)
• hsa04985 (Thyroid gland cancer)
• hsa04986 (Parathyroid gland cancer)
• hsa04987 (Adrenal gland cancer)
• hsa04988 (Pancreatic islet cancer)
• hsa04989 (Gastrointestinal cancer)
• hsa04990 (Genitourinary cancer)
• hsa04991 (Gynecological cancer)
• hsa04992 (Hematological cancer)
• hsa04993 (Neurological cancer)
• hsa04994 (Dermatological cancer)
• hsa04995 (Ophthalmic cancer)
• hsa04996 (Otolaryngological cancer)
• hsa04997 (Cardiovascular cancer)
• hsa04998 (Respiratory cancer)
• hsa04999 (Digestive cancer)
• hsa05000 (Endocrine cancer)
• hsa05001 (Exocrine cancer)
• hsa05002 (Reproductive cancer)
• hsa05003 (Urinary cancer)
• hsa05004 (Musculoskeletal cancer)
• hsa05005 (Connective tissue cancer)
• hsa05006 (Epithelial cancer)
• hsa05007 (Mesenchymal cancer)
• hsa05008 (Mixed cancer)
• hsa05009 (Unknown cancer)
蛋白质功能简介
PRKACB编码的蛋白质是cAMP依赖性蛋白激酶（PKA）的催化亚基β。PKA由两个调节亚基和两个催化亚基组成，在cAMP存在时，催化亚基被释放并磷酸化下游底物，从而调控多种细胞过程。PRKACB在多种组织中表达，参与代谢、基因表达、细胞增殖和分化等。其突变可导致PKA活性异常，与内分泌肿瘤和发育异常相关。
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