【佳學(xué)基因檢測】病例分析會(huì)中需要知道的關(guān)于CDKN2A基因的知識(shí)

基因檢測的序列名稱：

CDKN2A

人體基因序列變化與疾病表征數(shù)據(jù)庫中的基因代碼：

1029

人體基因序列數(shù)據(jù)庫中國際交流名稱全稱

cyclin dependent kinase inhibitor 2A

中國數(shù)據(jù)庫中基因全稱：

細(xì)胞周期蛋白依賴性激酶抑制劑2A

基因檢測報(bào)告英文版基因簡介

This gene generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode structurally related isoforms known to function as inhibitors of CDK4 kinase. The remaining transcript includes an alternate first exon located 20 Kb upstream of the remainder of the gene; this transcript contains an alternate open reading frame (ARF) that specifies a protein which is structurally unrelated to the products of the other variants. This ARF product functions as a stabilizer of the tumor suppressor protein p53 as it can interact with, and sequester, the E3 ubiquitin-protein ligase MDM2, a protein responsible for the degradation of p53. In spite of the structural and functional differences, the CDK inhibitor isoforms and the ARF product encoded by this gene, through the regulatory roles of CDK4 and p53 in cell cycle G1 progression, share a common functionality in cell cycle G1 control. This gene is frequently mutated or deleted in a wide variety of tumors, and is known to be an important tumor suppressor gene. [provided by RefSeq, Sep 2012]

基因突變所影響的基因信息

該基因產(chǎn)生幾個(gè)轉(zhuǎn)錄變體，它們的先進(jìn)個(gè)外顯子不同。已經(jīng)報(bào)道了至少三種編碼不同蛋白的可變剪接變體，其中兩種編碼已知作為CDK4激酶抑制劑起作用的結(jié)構(gòu)相關(guān)同種型。其余的轉(zhuǎn)錄本包括一個(gè)替代的先進(jìn)個(gè)外顯子，位于該基因其余部分的上游20 Kb。該轉(zhuǎn)錄本包含一個(gè)替代的開放閱讀框（ARF），用于指定與其他變體產(chǎn)物在結(jié)構(gòu)上無關(guān)的蛋白質(zhì)。該ARF產(chǎn)物可充當(dāng)腫瘤抑制蛋白p53的穩(wěn)定劑，因?yàn)樗梢耘cE3泛素蛋白連接酶MDM2（負(fù)責(zé)p53降解的蛋白）相互作用并隔離。盡管存在結(jié)構(gòu)和功能上的差異，但CDK抑制劑同工型和該基因編碼的AR??

國際國內(nèi)該堿基基因序列的其他英語文字母簡稱：

ARF, CDK4I, CDKN2, CMM2, INK4, INK4A, MLM, MTS-1, MTS1, P14, P14ARF, P16, P16-INK4A, P16INK4, P16INK4A, P19, P19ARF, TP16

基因解碼對該基因序列在細(xì)胞核中的染色體所給予的編號(hào)：

該基因序列位于人類第9號(hào)染色體上。

基因解碼對基因序列的正確定位

該基因序列在GRCh37版本中的起始位置坐標(biāo)為：21967751；結(jié)束位置坐標(biāo)為：21994490。該基因序列在GRCh38版本中的起始位置坐標(biāo)為：21967752；結(jié)束位置坐標(biāo)為：21995043。正確的基因信息定位是基因檢測和對檢測結(jié)果進(jìn)行正確解讀的關(guān)鍵。

佳學(xué)基因解碼對該基因的功能分類：國際版

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基因解碼對該基因的功能分類：中文版

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結(jié)構(gòu)與功能基因解碼所揭示的該基因在細(xì)胞內(nèi)發(fā)揮作用的場所（國際版）：

Nucleoli

結(jié)構(gòu)與功能基因解碼所揭示的該基因發(fā)揮作用的細(xì)胞內(nèi)位置（中文版）：

核仁

該基因序列變化后增加的疾病風(fēng)險(xiǎn)（國際版）：

Adenocarcinoma of pancreas; Chromosome Deletion; MELANOMA, CUTANEOUS MALIGNANT, 2; MELANOMA-PANCREATIC CANCER SYNDROME; Melanoma astrocytoma syndrome; Pancreatic squamous cell carcinoma; Squamous cell carcinoma of oropharynx; Trisomy; Chromosomal translocation; LI-FRAUMENI SYNDROME 1; Vulvar Lichen Sclerosus; Cutaneous Melanoma; Genitourinary Neoplasms; Brain Stem Neoplasms; Nerve Sheath Tumors; Thymoma; Pancreatic carcinoma, familial; Carcinogenesis; Adrenal Gland Neoplasms; Hereditary Melanoma; Abnormality of the lymphatic system; Adenocarcinoma Of Esophagus; Lymphatic Diseases; MELANOMA, CUTANEOUS MALIGNANT, 1; Malignant Squamous Cell Neoplasm; Nasopharyngeal carcinoma; Nevus; Carcinoma, Pancreatic Ductal; Adrenocortical carcinoma; Micronuclei, Chromosome-Defective; Brain Neoplasms; Lymphoma, T-Cell, Cutaneous; Sarcoma; Sezary Syndrome; Astrocytoma; Squamous cell carcinoma of the head and neck; Hair shaft abnormalities; hair abnormalities (non-specific); Freckles; Multiple Myeloma; Diffuse Large B-Cell Lymphoma; Mesothelioma; Melanocytic nevus; Precursor Cell Lymphoblastic Leukemia Lymphoma; Lymphoma; Neuroblastoma; Mouth Neoplasms; Esophageal Neoplasms; Dry skin; Xerosis; Glioma; Squamous cell carcinoma of esophagus; Pancreatic Neoplasm; Precancerous Conditions; Malignant mesothelioma; Non-Small Cell Lung Carcinoma; Adenocarcinoma; Bladder Neoplasm; Glaucoma; Squamous cell carcinoma; Liver neoplasms; Peripheral Neuropathy; Neoplasm Invasiveness; Lung Neoplasms; melanoma; Liver carcinoma; Unipolar Depression; Mental Depression; Major Depressive Disorder; Stomach Neoplasms; Depressive disorder; Mammary Neoplasms

如果該基因突變后，風(fēng)險(xiǎn)可能增加的疾病類型（中文版）：

胰腺癌;染色體缺失；黑色素瘤皮膚惡性腫瘤2型；黑色素瘤-胰腺癌綜合征；黑色素瘤星形細(xì)胞瘤綜合征；胰腺鱗狀細(xì)胞癌；口咽鱗狀細(xì)胞癌；三體性；染色體易位；李法美尼綜合癥 2型；外陰硬化性苔蘚；皮膚黑色素瘤；泌尿生殖系統(tǒng)腫瘤；腦干腫瘤；神經(jīng)鞘瘤；胸腺瘤;胰腺癌家族性；致癌作用；腎上腺腫瘤；遺傳性黑色素瘤；淋巴系統(tǒng)異常；食道腺癌；淋巴系統(tǒng)疾??；黑色素瘤皮膚惡性腫瘤2型；惡性鱗狀細(xì)胞腫瘤；鼻咽癌；痣;癌胰腺導(dǎo)管；腎上腺皮質(zhì)癌；微核染色體缺陷；腦腫瘤；淋巴瘤T 細(xì)胞皮膚；肉瘤;塞扎里綜合癥；星形細(xì)胞瘤；頭頸部鱗狀細(xì)胞癌；毛干異常；毛發(fā)異常（非特異性）；雀斑；多發(fā)性骨髓瘤;彌漫性大 B 細(xì)胞淋巴瘤；間皮瘤;黑色素細(xì)胞痣;前體細(xì)胞淋巴細(xì)胞白血病淋巴瘤；淋巴瘤；成神經(jīng)細(xì)胞瘤;口腔腫瘤；食道腫瘤；皮膚干燥;干燥癥;神經(jīng)膠質(zhì)瘤；食道鱗狀細(xì)胞癌；胰腺腫瘤；癌前病變；惡性間皮瘤;非小細(xì)胞肺癌；腺癌；膀胱腫瘤；青光眼;鱗狀細(xì)胞癌;肝腫瘤;周圍神經(jīng)病變；腫瘤侵襲；肺腫瘤；黑色素瘤;肝癌；單極抑郁癥；精神抑郁癥；嚴(yán)重抑郁癥;胃腫瘤；抑郁癥；乳腺腫瘤

GWAS基因檢測所建立的與該基因的疾病關(guān)聯(lián)（國際版）：

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GWAS基因檢測所解碼的該基因突變會(huì)增加風(fēng)險(xiǎn)的疾病種類（中文版）：

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以該基因做靶點(diǎn)的藥物（國際版）：

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針對該基因所產(chǎn)生的突變，可能有正確效果的藥物（中文版）：

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