1. Gene
  2. TERC - telomerase RNA component Gene

TERC - telomerase RNA component Gene

中文名称:端粒酶 RNA 成分

种属: Homo sapiens

同用名: TR; TER; hTR; TRC3; DKCA1; PFBMFT2; SCARNA19

基因 ID: 7012 | 基因类型: ncRNA

关于 TERC

Cytogenetic location: 3q26.2 Genomic coordinates (GRCh38): 3:169,764,610-169,765,060 (from NCBI)

This gene has 1 transcript (splice variant) and 100 orthologues.

功能概要

端粒酶是一种核糖核蛋白聚合酶,通过添加端粒重复 TTAGGG 来维持端粒末端。该酶由具有逆转录酶活性的蛋白质成分和由该基因编码的 RNA 成分组成,用作端粒重复序列的模板。端粒酶表达在细胞衰老中发挥作用,因为它通常在出生后体细胞中受到抑制,导致端粒逐渐缩短。体细胞中端粒酶表达的失调可能与肿瘤发生有关。小鼠研究表明,端粒酶也参与染色体修复,因为端粒重复的从头合成可能发生在双链断裂处。该基因的突变导致常染色体显性先天性角化不良,也可能与某些再生障碍性贫血病例有关。[RefSeq 提供,2008 年 7 月]

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]

基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA polymerase binding IPI
IPI: 通过物理相互作用推断
16507993 GOA
contributes to RNA-directed DNA polymerase activity IDA
IDA: 通过直接分析推断
19701182 GOA
enables WD40-repeat domain binding IPI
IPI: 通过物理相互作用推断
25467444 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10757788 GOA
enables protein-containing complex binding IPI
IPI: 通过物理相互作用推断
15824061 GOA
contributes to telomerase activity IDA
IDA: 通过直接分析推断
9398860 GOA
contributes to telomerase activity IMP
IMP: 通过突变表型推断
11313459 GOA
enables template for synthesis of G-rich strand of telomere DNA activity IDA
IDA: 通过直接分析推断
9398860 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to hypoxia IMP
IMP: 通过突变表型推断
11313459 GOA
involved in negative regulation of cellular senescence IMP
IMP: 通过突变表型推断
11313459 GOA
involved in telomere maintenance via telomerase IDA
IDA: 通过直接分析推断
9443919 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Cajal body IDA
IDA: 通过直接分析推断
26950371 GOA
located in Cajal body IMP
IMP: 通过突变表型推断
25467444 GOA
part of box H/ACA telomerase RNP complex IDA
IDA: 通过直接分析推断
10757788 GOA
colocalizes with chromosome, telomeric region IMP
IMP: 通过突变表型推断
26950371 GOA
located in cytoplasm IMP
IMP: 通过突变表型推断
26950371 GOA
part of telomerase catalytic core complex IDA
IDA: 通过直接分析推断
9398860 GOA
part of telomerase catalytic core complex IMP
IMP: 通过突变表型推断
11313459 GOA
part of telomerase holoenzyme complex IPI
IPI: 通过物理相互作用推断
19701182 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

关联疾病

疾病名称 别名
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2

Aplastic Anemia

PFBMFT2

Pulmonary Fibrosis, Idiopathic, Susceptibility To

Pulmonary Fibrosis, Idiopathic

Fibrosis, Pulmonary, And/Or Bone Marrow Failure, Telomere-Related, Type 2

Dyskeratosis Congenita, Autosomal Dominant 1

DKCA1

Dyskeratosis Congenita, Scoggins Type

Autosomal Dominant Dyskeratosis Congenita 1

Dyskeratosis Congenita, Autosomal Dominant, Type 1

Dyskeratosis Congenita, Autosomal Dominant

Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant

Dc

Dkc

Zinsser-Engman-Cole Syndrome

Dyskeratosis Congenita, Autosomal Dominant

Autosomal Dominant Dyskeratosis Congenita

Dkca

Dyskeratosis Congenita Scoggins Type

Zinsser-Cole-Engman Syndrome

X-Linked Dyskeratosis Congenita

Hoyeraal-Hreidarsson Syndrome

Aplastic Anemia

Aplastic Anemia, Susceptibility To

Anemia Aplastic

Idiopathic Aplastic Anemia

Secondary Aplastic Anemia

Idiopathic Bone Marrow Failure

Aplastic Anemia Idiopathic

AA

Anemia, Aplastic

Aplastic Anemia, Idiopathic

Erythroid Aplasia

Aa - [Aplastic Anaemia]

Haematopoietic Aplasia

Aleukia Haemorrhagica

Anaemia Due To Decreased Red Cell Production

Aplasia Bone Marrow

Aplastic Bone Marrow

Hypoplastic Anaemia Nos

Myeloid Bone Marrow Aplasia

Pancytopenia

Panhaematopenia

Hypoproliferative Anaemia

Medullary Hypoplasia

Red Blood Cells Hypoplastic Anaemia

Panmyelophthisis

Panhemocytopenia

Refractive Hypoproliferative Anaemia

Toxic Anaemia

Toxic Aplastic Anaemia

Aplastic Anaemia Due To Toxic Cause

Idiopathic Aplastic Anaemia Nos

Interstitial Lung Disease 2

Idiopathic Pulmonary Fibrosis

Ipf

Fibrocystic Pulmonary Dysplasia

Pulmonary Fibrosis, Idiopathic

Pulmonary Fibrosis, Idiopathic, Susceptibility To

Cryptogenic Fibrosing Alveolitis

ILD2

Idiopathic Pulmonary Fibrosis, Familial

Fibrosing Alveolitis, Cryptogenic

Uip

Fibrosing Alveolitis

Interstitial Pneumonitis, Usual

Familial Idiopathic Pulmonary Fibrosis

Idiopathic Fibrosing Alveolitis, Chronic Form

Usual Interstitial Pneumonia

Fibrosing Alveolitis Cryptogenic

Hamman-Rich Disease

Idiopathic Pulmonary Fibrosis Familial

Interstitial Pneumonitis Usual

Fibrosis Idiopathic Pulmonary

Fibrosis, Pulmonary, Idiopathic

Hamman-Rich Syndrome

Chronic Idiopathic Pulmonary Fibrosis

Acute Interstitial Pneumonia

Interstitial Pulmonary Fibrosis

Ipf - [Idiopathic Pulmonary Fibrosis]

Idiopathic Lung Fibrosis

Fibrosing Lung Disease

Pulmonary Fibrosis Nos

Fibrosing Pneumonitis

Lung Squamous Cell Carcinoma

Squamous Cell Carcinoma Of Lung

Squamous Cell Lung Carcinoma

Epidermoid Cell Carcinoma Of The Lung

Squamous Cell Lung Cancer

Prostate Disease

Prostatic Diseases

Prostate Diseases

Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

Cervical Intraepithelial Neoplasia

CIN

Hoyeraal Hreidarsson Syndrome

Hoyeraal-Hreidarsson Syndrome

Progressive Pancytopenia-Immunodeficiency-Cerebellar Hypoplasia Syndrome

Cerebellar Hypoplasia With Pancytopenia

Growth Retardation Prenatal With Progressive Pancytopenia And Cerebellar Hypoplasia

Hemangioma Of Subcutaneous Tissue

Angioma Of The Subcutaneous Tissue

Subcutaneous Haemangioma

Subcutaneous Hemangioma

Pulmonary Fibrosis

Fibrosis Of Lung

Dyskeratosis Congenita, X-Linked

DKCX

X-Linked Dyskeratosis Congenita

Zinsser-Cole-Engman Syndrome

Hoyeraal-Hreidarsson Syndrome

Dyskeratosis Congenita X-Linked

HHS

Cerebellar Hypoplasia With Pancytopenia

Prenatal Growth Retardation With Progressive Pancytopenia And Cerebellar Hypoplasia

Dyskeratosis Congenita

Revesz Syndrome

Exudative Retinopathy With Bone Marrow Failure

DKCA5

Dyskeratosis Congenita, Autosomal Dominant 5

Dyskeratosis Congenita With Bilateral Exudative Retinopathy

Retinopathy-Anemia-Central Nervous System Anomalies Syndrome

Revesz-Debuse Syndrome

Dyskeratosis Congenita, Autosomal Dominant, 5

Revesz Debuse Syndrome

Dyskeratosis Congenita, Autosomal Recessive 1

DKCB1

Autosomal Recessive Dyskeratosis Congenita 1

Dyskeratosis Congenita, Autosomal Recessive, 1

Dyskeratosis Congenita, Autosomal Recessive, Type 1

Interstitial Pneumonitis, Desquamative, Familial

Desquamative Interstitial Pneumonia

DIP

Pneumonitis, Desquamative Interstitial, Familial

Pneumonia, Desquamative Interstitial, Familial

Interstitial Lung Disease, Desquamative

Ild, Desquamative

Familial Desquamative Interstitial Pneumonitis

Rbild

Respiratory Bronchiolitis-Associated Interstitial Lung Disease

Respiratory Bronchiolitis Associated Interstitial Lung Disease

Myelodysplastic Syndrome

Myelodysplastic Syndromes

Myelodysplasia

MDS

Myelodysplastic Syndrome Included

Myelodysplastic Syndrome, Susceptibility To, Included

Myelodysplastic Syndrome, Somatic

Myelodysplastic Syndrome, Susceptibility To

Idiopathic Interstitial Pneumonia

Hamman-Rich Syndrome

Diffuse Idiopathic Pulmonary Fibrosis

Idiopathic Fibrosing Alveolitis

Ipf

Idiopathic Interstitial Pneumonias

Idiopathic Interstitial Pneumonia, Not Otherwise Specified

Pulmonary Fibrosis

Bladder Cancer

Urinary Bladder Cancer

Bladder Carcinoma

Urinary Bladder Carcinoma

Bladder Neoplasm

Bladder Tumor

Cancer, Bladder

Malignant Neoplasm Of Urinary Bladder

Carcinoma Of Bladder

Bladder Cancer, Somatic

Tumor Of The Bladder

Carcinoma Of Urinary Bladder

Bladder Carcinoma Urinary

Cancer Of The Urinary Bladder

Cancer, Urinary Bladder

Malignant Bladder Neoplasm

Malignant Bladder Tumor

Neoplasm Of The Bladder

Neoplasm Of The Urinary Bladder

Tumor Of The Urinary Bladder

Urinary Bladder Neoplasm

BLC

Urothelial Carcinoma Of The Bladder

Bladder Tumors

Urinary Bladder Neoplasms

Bladder Cancer Nos

Vesical Cancer Nos

Malignant Neoplasm Of Bladder, Part Unspecified

Malignant Tumour Of Urinary Bladder

Primary Malignant Neoplasm Of Bladder

Cervical Cancer

Cervical Cancer, Somatic

Neoplasm Of Uterine Cervix

Cervix Cancer

Uterine Cervical Neoplasm

Cervical Neoplasm

Cervix Uteri Cancer

Tumor Of The Cervix Uteri

CERCA

Uterine Cervical Cancer

Neoplasms Cervical

Uterine Cervical Neoplasms

Cervical Cancers

Cancer, Cervical, Somatic

Malignant Tumor Of Cervix

Cervix Carcinoma

Nonspecific Interstitial Pneumonia

Nsip

Non-Specific Interstitial Pneumonia

Non-Specific Idiopathic Interstitial Pneumonia

Non-Specific Interstitial Pneumonia Nos

Endometrial Cancer

Endometrial Carcinoma

Endometrial Neoplasm

Malignant Neoplasm Of Endometrium

Endometrioid Carcinoma

Endometrial Neoplasms

Carcinoma, Endometrioid

Endometrial Cancer, Familial

Endometrial Carcinoma, Somatic

Endometrial Cancer, Susceptibility To

Endometrial Ca

Malignant Endometrial Neoplasm

Neoplasm Of Endometrium

Primary Malignant Neoplasm Of Endometrium

Tumor Of Endometrium

Carcinoma Of The Endometrium

Endometrioid Carcinoma Of Female Reproductive System

ENDMC

Carcinoma Endometrioid

Endometrial Cancers

Cancer, Endometrial

Uterine Corpus Cancer

Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma

Gastric Cancer

Stomach Cancer

Gastric Carcinoma

Stomach Carcinoma

Gastric Cancer, Somatic

Gastric Neoplasm

Carcinoma Of Stomach

Stomach Neoplasms

Malignant Neoplasm Of Stomach

Gastric Cancer Risk After H. Pylori Infection

Cancer Of The Stomach

Adult Stomach Cancer

Adult Stomach Carcinoma

GASC

Gastric Cancer Intestinal

Gastric Cancers

Gastric Carcinomas

Cancer, Gastric

Stomach Neoplasm

Malignant Neoplasm Of Body Of Stomach

Malignant Tumor Of Lesser Curve Of Stomach

Gastrocarcinoma Of Unspecified Site

Leather Bottle Stomach

Carcinoma Of Fundus Of Stomach

Cancer Of Fundus Of Stomach

Primary Malignant Neoplasm Of Body Of Stomach

Cancer Of Body Of Stomach

Primary Malignant Neoplasm Of Pyloric Antrum

Pyloric Antrum Cancer

Malignant Tumour Of Stomach

Shwachman-Diamond Syndrome 1

Shwachman-Diamond Syndrome

Shwachman Syndrome

Shwachman-Bodian-Diamond Syndrome

Sds

Pancreatic Insufficiency And Bone Marrow Dysfunction

Shwachman-Bodian Syndrome

SDS1

Lipomatosis Of Pancreas, Congenital

Congenital Lipomatosis Of Pancreas

Shwachman-Diamond Type Metaphyseal Dysplasia

Metaphyseal Chondrodysplasia, Shwachman Type

Shwachman-Diamond-Oski Syndrome

Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

Coats Disease

Exudative Retinopathy

Retinal Telangiectasis

Coats' Disease

Leber Miliary Aneurysm

Coats' Syndrome

Congenital Retinal Telangiectasia

Lymphoid Interstitial Pneumonia

Lymphocytic Interstitial Pneumonia

Lip Disease

Lip Diseases

LIP

Disease Of Lips

Pancreatic Cancer

Pancreatic Carcinoma

Carcinoma Of Pancreas

Familial Pancreatic Carcinoma

Pancreatic Neoplasm

Pancreatic Carcinoma, Familial

Malignant Neoplasm Of Pancreas

Pancreatic Acinar Carcinoma

Pancreatic Tumor

Familial Pancreatic Cancer

Neoplasm Of The Pancreas

Cancer Of The Pancreas

Pancreatic Carcinoma, Somatic

Pancreatic Cancer, Somatic

Ca Body Of Pancreas

Ca Head Of Pancreas

Ca Tail Of Pancreas

Malignant Neoplasm Of Body Of Pancreas

Malignant Neoplasm Of Head Of Pancreas

Malignant Neoplasm Of Tail Of Pancreas

Pancreas Neoplasm

Exocrine Cancer

Exocrine Pancreas Carcinoma

Hereditary Pancreatic Cancer

Hereditary Pancreatic Carcinoma

PNCA

Pancreatic Cancer, Susceptibility To

Carcinoma Of Head Of Pancreas

Pancreatic Neoplasms

Pancreatic Tumors

Cancer, Pancreatic

Cancer Of Pancreas

Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Deficiency Anemia

Anemia

Deficiency Anemias

Anaemia

Osteoporosis

Postmenopausal Osteoporosis

Osteoporosis, Postmenopausal

Bone Mineral Density Quantitative Trait Locus

Bmnd

Osteoporosis, Involutional

Osteoporosis, Susceptibility To

Osteoporosis, Postmenopausal, Susceptibility

Bone Mineral Density Variation Qtl, Osteoporosis

OSTEOP

Involutional Osteoporosis

Senile Osteoporosis

Osteoporosis Postmenopausal

Bone Mineral Density, Quantitative Trait Locus

Osteoporosis, Senile

Idiopathic Osteoporosis

Bone Rarefaction Nos

Type 1 Osteoporosis

Diamond-Blackfan Anemia

Congenital Pure Red Cell Aplasia

Aase Syndrome

Erythrogenesis Imperfecta

Anemia, Diamond-Blackfan

Congenital Hypoplastic Anemia

Aase-Smith Ii Syndrome

Bds

Blackfan-Diamond Anemia

Congenital Prca

Congenital Hypoplastic Anemia, Blackfan-Diamond Type

Dba

Blackfan - Diamond Syndrome

Chronic Constitutional Pure Red Cell Anaemia

Anemia Diamond Blackfan Type

Anemia Congenital Erythroid Hypoplastic

Aregenerative Anemia Chronic Congenital

Blackfan Diamond Syndrome

Red Cell Aplasia, Pure Hereditary

Aase-Smith Syndrome Ii

Bda

Blackfan Diamond Anemia

Blackfan-Diamond Disease

Blackfan-Diamond Syndrome

Chronic Congenital Agenerative Anemia

Congenital Erythroid Hypoplastic Anemia

Congenital Hypoplastic Anemia Of Blackfan And Diamond

Congenital Pure Red Cell Anemia

Hypoplastic Congenital Anemia

Inherited Erythroblastopenia

Pure Hereditary Red Cell Aplasia

Anemia, Hypoplastic, Congenital

Anemia Hypoplastic Congenital

Fanconi Anemia

Constitutional Aplastic Anemia

Diamond-Blackfan Anemia 1

Aase Smith Syndrome 2

Congenital Red Cell Aplasia

Red Cell Aplasia Of Infants

Pure Red Cell Aplasia Of Infants

Congenital Red Cell Aplastic Anaemia

Congenital Pure Red Cell Anaemia

Congenital Erythroid Hypoplasia

Pearson Marrow-Pancreas Syndrome

Melanoma, Cutaneous Malignant 1

Familial Melanoma

Melanoma, Cutaneous Malignant, Susceptibility To, 1

Melanoma, Malignant

CMM1

Melanoma, Cutaneous Malignant

Cmm

Familial Atypical Mole-Malignant Melanoma Syndrome

Fammm

Melanoma, Familial

Mlm

Dysplastic Nevus Syndrome, Hereditary

Dns

B-K Mole Syndrome

Melanoma, Cutaneous Malignant, 1

Malignant Melanoma, Cutaneous

Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1

Dysplastic Nevus Syndrome

Cutaneous Melanoma

Familial Atypical Mole Melanoma Syndrome

Hereditary Melanoma

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus TERC RGD RGD:727802
Canis familiaris TERC NCBI
Mus musculus TERC NCBI NCBI:21748
Macaca mulatta TERC NCBI NCBI:100429884