TERC基因详情-基因数据库-基因云馆

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TERC (telomerase RNA component)

symbol:: TERC
locus group:: non-coding RNA
location:: 3q26.2
gene_family:
alias symbol:: TR|hTR|TRC3|SCARNA19|TER
alias name:: small Cajal body-specific RNA 19
entrez id:: 7012
ensembl gene id:: ENSG00000270141
ucsc gene id:: uc003ffr.2
refseq accession:: NR_001566
hgnc_id:: HGNC:11727
approved reserved:: 1997-07-25

3q26.2

Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, and an RNA component, encoded by this gene, that serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Mutations in this gene cause autosomal dominant dyskeratosis congenita, and may also be associated with some cases of aplastic anemia. [provided by RefSeq, Jul 2008]

端粒酶是一种核糖聚合酶通过加入端粒重复TTAGGG的端粒保持两端。酶由具有逆转录酶活性的蛋白质组分和RNA组分，由该基因编码的，即用作用于端粒重复模板。端粒酶表达在细胞衰老的作用，因为它是在导致端粒渐进缩短产后体细胞通常抑制。在体细胞中端粒酶表达的失调可能参与肿瘤发生。在小鼠的研究表明，端粒酶还参与染色体修复，由于从头端粒重复序列的合成可在双链断裂发生。在该基因引起的常染色体显性先天性角化不良突变，并且也可以与再生障碍性贫血的某些情况下，相关联。 [由RefSeq的，2008年7月提供]

OMIM数据库中对CCND1基因的介绍 Wikipedia数据库中对CCND1基因的介绍

CCND1基因的碱基序列：[NCBI]

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TERC基因的碱基突变：仅显示部分snp

rs77161892 rs111573306 rs148366077 rs182010735 rs186549994 rs189195891 rs192619418 rs374030233 rs377121629 rs528383093 rs530125764 rs536896897 rs538212373 rs540949307 rs542265681 rs546439550 rs548904243

TERC基因在不同组织中的表达： [UniProt]

正向引物序列

正向Tm值

反向引物序列

反向Tm值

评分

TTTCTCGCTGACTTTCAGC

GCTCTAGAATGAACGGTGG

TTTCTCGCTGACTTTCAGC

TCTAGAATGAACGGTGGAAGG

TTTCTCGCTGACTTTCAGC

CTAGAATGAACGGTGGAAGG

尚未收录相关数据

TERC基因（以及对应的蛋白质）的细胞分布位置：

[UniProt] [GenomeNet]

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

TERC基因的本体（GO）信息：

可能调控 TERC基因的相关microRNA：

序号	作用方式	资源库来源/分值	基因名称	基因名称

疾病名称

关系值

NofPmids

NofSnps

来源

疾病名称	关系值	NofPmids	NofSnps	来源
Idiopathic Pulmonary Fibrosis	0.361085767	6	1	BeFree_CLINVAR_CTD_human_ORPHANET
Dyskeratosis Congenita	0.271772138	25	0	BeFree_CTD_human_GAD_LHGDN_ORPHANET
Aplastic Anemia	0.256988674	9	12	BeFree_CLINVAR_CTD_human_GAD_LHGDN
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT	0.241628651	6	17	BeFree_CLINVAR_CTD_human
Squamous cell carcinoma	0.120271442	2	0	BeFree_CTD_human
Aplastic anemia, idiopathic	0.120271442	1	0	BeFree_ORPHANET
Prostatic Neoplasms	0.12	1	0	CTD_human
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2	0.12	0	6	CLINVAR
Tongue Neoplasms	0.12	1	0	CTD_human
Bone Marrow Diseases	0.004734064	2	0	GAD