Version 2.78

Part Descriptions

LP19646-6   CDKN2A gene
The CDKN2A gene (cyclin-dependent kinase inhibitor 2A) [HGNC Gene ID:1787] is located on chromosome 9p21. 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] [NCBI Gene ID:1029] Source: National Center for Biotechnology Information (NCBI) Gene

LP19646-6   CDKN2A gene
Mutations in the CDKN2A gene are associated with various cancers, including head and neck squamous cell carcinomas (HNSCC), familial atypical multiple mole melanoma (FAMMM) syndrome, breast cancer, lung cancer, and pancreatic cancer. CDKN2A gene mutations associated with HNSCC are acquired (somatic) and found only in tumor cells, which occur primarily in the lining of the mouth, nose, and throat. Most of these mutations result in reduced or non-functional p16(INK4a) protein.[MedlinePlus Gene: CDKN2A] CDKN2A mutations associated with FAMMM syndrome are inherited in an autosomal dominant fashion and show reduced penetrance and variable expressivity.[NCBI Books: NBK7030] Source: Regenstrief LOINC

Fully-Specified Name

Component
CDKN2A gene deletion
Property
Arb
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
CDKN2A Del Bld/T Ql
Display Name
CDKN2A gene del Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
CDKN2A gene deletion analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.DEL
Type
Laboratory
First Released
Version 1.0m
Last Updated
Version 2.73
Order vs. Observation
Both
Common Test Rank Get Info
19724

Language Variants Get Info

Tag Language Translation
es-AR Spanish (Argentina) deleción genética CDKN2A:arbitrario:punto en el tiempo:sangre entera/tejido:ordinal:genética molecular
es-ES Spanish (Spain) Gen CDKN2A Deleción:Arbitrario:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Deleción del gen CDKN2A:Arbitrario:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) CDKN2A gène délétion:Arbitraire:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) CDKN2A, gene Delezione:Arb:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Arbitrario Delezione genetica Gene CDKN2A Genetica molecolare Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) CDKN2A 유전자 결손:임의적분:검사시점:전혈/조직:순위척도:분자유전
nl-NL Dutch (Netherlands) CDKN2A-gen deletie:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: CDKN2A gen molgen
pt-BR Portuguese (Brazil) CDKN2A deleção do gene:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: p16; p16INK4a; MTS1; Multiple tumor suppressor 1; CDKN2; CDK4 inhibitor; p14ARF; Melanoma; CDK4I; CMM2; INK4; INK4a; MLM; p19; Cyclin-dependent kinase inhibitor 2A gene; Cyclin-dependent kinase 4 inhibitor A gene; Arbitrary; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; Deletions; MOLPATH.DELETIONS; MOLPATH.DELETIONS; Molecular pathology
ru-RU Russian (Russian Federation) CDKN2A ген делеция:Произв:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Произвольный Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) CDKN2A geni delesyon:Sç:Zmlı:Kan/Dk:Srl:Molgen
zh-CN Chinese (China) CDK2A 基因 缺失:任意型:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: CDK4 抑制剂;CDK4 抑制因子;CDK4I;CDKN2;CMM2;INK4;INK4a;MLM;MTS1;p14ARF;p16;p16INK4a;p19;多发性肿瘤抑制因子 1;多肿瘤抑制基因 1;多重肿瘤抑制因子 1;恶性黑素瘤;细胞周期素-依赖性激酶 4 抑制因子 A 基因;细胞周期素-依赖性激酶抑制因子 2A 基因;细胞周期蛋白-依赖性激酶 4 抑制因子 A 基因;细胞周期蛋白-依赖性激酶抑制因子 2A 基因;黑瘤;黑素瘤;黑色素瘤 任意;任意的;人工型 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 全血或组织;血液/组织;血液或组织 分子病理学.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 染色体缺失;染色体区带缺失;基因缺失;缺损;基因缺损;基因删除;删除;基因丢失 血;血液 遗传基因;遗传因子;吉恩;生物基因

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