1. Gene
  2. TERF2 - telomeric repeat binding factor 2 Gene

TERF2 - telomeric repeat binding factor 2 Gene

中文名称:端粒重复结合因子 2

种属: Homo sapiens

同用名: TRF2; TRBF2

基因 ID: 7014 | 基因类型: protein coding

关于 TERF2

Cytogenetic location: 16q22.1 Genomic coordinates (GRCh38): 16:69,355,567-69,386,007 (from NCBI)

This gene has 12 transcripts (splice variants), 182 orthologues and 1 paralogue. Ubiquitous expression in brain (RPKM 13.1), lymph node (RPKM 12.7) and 25 other tissues.

功能概要

该基因编码一种端粒特异性蛋白 TERF2,它是端粒核蛋白复合物的一个组成部分。这种蛋白质存在于细胞周期中期的端粒上,是端粒长度的第二个负调节因子,在端粒的保护活性中起着关键作用。虽然具有相似的端粒结合活性和域组织,但 TERF2 与 TERF1 的不同之处在于它的 N 末端是碱性的而不是酸性的。[RefSeq 提供,2008 年 7 月]

This gene encodes a telomere specific protein, TERF2, which is a component of the telomere nucleoprotein complex. This protein is present at telomeres in metaphase of the cell cycle, is a second negative regulator of telomere length and plays a key role in the protective activity of telomeres. While having similar telomere binding activity and domain organization, TERF2 differs from TERF1 in that its N terminus is basic rather than acidic. [provided by RefSeq, Jul 2008]

TERF2 基因产物(1)

mRNA Protein Name
NM_005652.5 NP_005643.2 telomeric repeat-binding factor 2
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 G-rich strand telomeric DNA binding IDA
IDA: 通过直接分析推断
17694070 GOA
enables double-stranded telomeric DNA binding IDA
IDA: 通过直接分析推断
18812185 GOA
enables enzyme binding IPI
IPI: 通过物理相互作用推断
20479256 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10984620 GOA
enables protein homodimerization activity IPI
IPI: 通过物理相互作用推断
9326950 GOA
enables protein-containing complex binding IPI
IPI: 通过物理相互作用推断
14690602 GOA
contributes to telomerase activity IDA
IDA: 通过直接分析推断
23685356 GOA
enables telomeric DNA binding IDA
IDA: 通过直接分析推断
19854130 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of beta-galactosidase activity IDA
IDA: 通过直接分析推断
11927518 GOA
involved in negative regulation of cellular senescence IMP
IMP: 通过突变表型推断
11927518 GOA
involved in negative regulation of exonuclease activity IDA
IDA: 通过直接分析推断
15200954 GOA
involved in negative regulation of gene expression IMP
IMP: 通过突变表型推断
11927518 GOA
involved in negative regulation of t-circle formation IMP
IMP: 通过突变表型推断
15507207 GOA
involved in negative regulation of telomere capping IMP
IMP: 通过突变表型推断
24270157 GOA
involved in negative regulation of telomere maintenance IMP
IMP: 通过突变表型推断
11971978 GOA
involved in negative regulation of telomere maintenance via recombination IMP
IMP: 通过突变表型推断
15507207 GOA
involved in negative regulation of telomere maintenance via telomerase IDA
IDA: 通过直接分析推断
17055345 GOA
involved in negative regulation of telomere maintenance via telomere lengthening IMP
IMP: 通过突变表型推断
24012755 GOA
involved in negative regulation of telomeric D-loop disassembly IDA
IDA: 通过直接分析推断
15200954 GOA
involved in positive regulation of gene expression IMP
IMP: 通过突变表型推断
11927518 GOA
involved in positive regulation of nitric-oxide synthase activity IMP
IMP: 通过突变表型推断
11927518 GOA
involved in positive regulation of telomere maintenance IDA
IDA: 通过直接分析推断
24012755 GOA
involved in protection from non-homologous end joining at telomere IMP
IMP: 通过突变表型推断
14690602 GOA
involved in protection from non-homologous end joining at telomere IPI
IPI: 通过物理相互作用推断
24095731 GOA
involved in protein localization to chromosome, telomeric region IMP
IMP: 通过突变表型推断
17499040 GOA
involved in regulation of telomere maintenance IMP
IMP: 通过突变表型推断
22536324 GOA
involved in regulation of telomere maintenance via telomerase IDA
IDA: 通过直接分析推断
23685356 GOA
involved in regulation of telomere maintenance via telomerase IMP
IMP: 通过突变表型推断
19864690 GOA
involved in telomere capping IDA
IDA: 通过直接分析推断
21852327 GOA
involved in telomere capping IMP
IMP: 通过突变表型推断
12768206 GOA
involved in telomere maintenance IDA
IDA: 通过直接分析推断
28216226 GOA
involved in telomere maintenance IMP
IMP: 通过突变表型推断
20655466 GOA
involved in telomeric D-loop disassembly IGI
IGI: 通过遗传相互作用推断
22039056 GOA
involved in telomeric loop formation IDA
IDA: 通过直接分析推断
10338214 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in chromosome, telomeric region IDA
IDA: 通过直接分析推断
28216226 GOA
located in chromosome, telomeric region IDA
IDA: 通过直接分析推断
12768206 GOA
part of nuclear telomere cap complex IDA
IDA: 通过直接分析推断
15181449 GOA
located in nucleus IDA
IDA: 通过直接分析推断
17055345 GOA
part of shelterin complex IDA
IDA: 通过直接分析推断
15383534 GOA
part of shelterin complex IMP
IMP: 通过突变表型推断
21852327 GOA
part of shelterin complex IPI
IPI: 通过物理相互作用推断
15383534 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

TERF2 蛋白结构

TRF

TRF: Telomere repeat binding factor (TRF) (95 - 290)

Myb_DNA-binding

Myb_DNA-binding: Myb-like DNA-binding domain (489 - 536)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 542 a.a.
蛋白主名 其他名称

telomeric repeat-binding factor 2

TTAGGG repeat-binding factor 2

TERF2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra TERF2 Q15554 NAIF1 Homo sapiens Q69YI7
BiFC
21044950
Intra TERF2 Q15554 ZC3H18 Homo sapiens Q86VM9
BiFC
21044950
Intra TERF2 Q15554 HDGFL2 Homo sapiens Q7Z4V5
BiFC
21044950
Intra TERF2 Q15554 MCPH1 Homo sapiens Q8NEM0
Anti Tag CoIP
19287395
Intra TERF2 Q15554 SLX4 Homo sapiens Q8IY92
Anti Tag CoIP
19596236
Cross TERF2 Q15554 Ppp1r10 Mus musculus Q80W00
BiFC
19287395
Cross TERF2 Q15554 Ppp1r10 Mus musculus Q80W00
Pull Down
19287395
Intra TERF2 Q15554 HEXIM1 Homo sapiens O94992
BiFC
21044950
Intra TERF2 Q15554 DCLRE1B Homo sapiens Q9H816
Y2H
16730175
Intra TERF2 Q15554 DCLRE1B Homo sapiens Q9H816
IF
16730175
Intra TERF2 Q15554 DCLRE1B Homo sapiens Q9H816
Anti Tag CoIP
21217703
Intra TERF2 Q15554 DCLRE1B Homo sapiens Q9H816
Pull Down
16730175
Intra TERF2 Q15554 DDX21 Homo sapiens Q9NR30
BiFC
21044950
Intra TERF2 Q15554 WRN Homo sapiens Q14191
Anti Bait CoIP
12181313
Intra TERF2 Q15554 WRN Homo sapiens Q14191
Pull Down
12181313
Intra TERF2 Q15554 WRN Homo sapiens Q14191
IF
12181313
Intra TERF2 Q15554 ORC1 Homo sapiens Q13415
Pull Down
16799465
Intra TERF2 Q15554 ORC2 Homo sapiens Q13416
Pull Down
16799465
Intra TERF2 Q15554 ORC2 Homo sapiens Q13416
Anti Bait CoIP
16799465
Intra TERF2 Q15554 H2AX Homo sapiens P16104
BiFC
21044950
Intra TERF2 Q15554 H2AX Homo sapiens P16104
IF
22157895
Intra TERF2 Q15554 BLM Homo sapiens P54132
Anti Bait CoIP
15229185
Intra TERF2 Q15554 TINF2 Homo sapiens Q9BSI4
Anti Tag CoIP
16880378
Intra TERF2 Q15554 TINF2 Homo sapiens Q9BSI4
BiFC
19287395
Intra TERF2 Q15554 TINF2 Homo sapiens Q9BSI4
Anti Tag CoIP
19287395
Intra TERF2 Q15554 TINF2 Homo sapiens Q9BSI4
Anti Tag CoIP
35271311
Intra TERF2 Q15554 TINF2 Homo sapiens Q9BSI4-3
Anti Tag CoIP
15383534
Intra TERF2 Q15554 TERF2IP Homo sapiens Q9NYB0
Anti Bait CoIP
21829167
Intra TERF2 Q15554 TERF2IP Homo sapiens Q9NYB0
X-Ray Diffraction
21217703
Intra TERF2 Q15554 TERF2IP Homo sapiens Q9NYB0
BiFC
21044950
Intra TERF2 Q15554 TERF2IP Homo sapiens Q9NYB0
ITC
21217703
Intra TERF2 Q15554 TERF2IP Homo sapiens Q9NYB0
Anti Tag CoIP
21217703
Intra TERF2 Q15554 TERF2IP Homo sapiens Q9NYB0
Y2H
27214791
Intra TERF2 Q15554 TERF2IP Homo sapiens Q9NYB0
GMS
21217703
Intra TERF2 Q15554 TERF2IP Homo sapiens Q9NYB0
Y2H
21217703
Intra TERF2 Q15554 TERF2IP Homo sapiens Q9NYB0
Anti Tag CoIP
35271311
Intra TERF2 Q15554 TERF2IP Homo sapiens Q9NYB0
Pull Down
21217703
Intra TERF2 Q15554 TERF2IP Homo sapiens Q9NYB0
Pull Down
21044950
Intra TERF2 Q15554 TERF2IP Homo sapiens Q9NYB0
Anti Tag CoIP
19287395
Intra TERF2 Q15554 TERF2IP Homo sapiens Q9NYB0
Anti Tag CoIP
19651898
Intra TERF2 Q15554 POT1 Homo sapiens Q9NUX5
Anti Tag CoIP
15383534
Intra TERF2 Q15554 POT1 Homo sapiens Q9NUX5
Anti Tag CoIP
19287395
Intra TERF2 Q15554 POT1 Homo sapiens Q9NUX5
Anti Tag CoIP
19651898
Cross TERF2 Q15554 EBNA1 Epstein-Barr virus P03211
Anti Bait CoIP
16799465
Cross TERF2 Q15554 EBNA1 Epstein-Barr virus P03211
Pull Down
16799465
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Werner Syndrome

Werner'S Syndrome

WRN

Adult Progeria

Ws

Adult Premature Ageing Syndrome

Adult Premature Aging Syndrome

Werners Syndrome

Nijmegen Breakage Syndrome

Berlin Breakage Syndrome

NBS

Microcephaly, Normal Intelligence And Immunodeficiency

Ataxia-Telangiectasia Variant

Ataxia-Telangiectasia Variant V1

Seemanova Syndrome Ii

Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome

Seemanova Syndrome Type 2

At-V1

Microcephaly With Normal Intelligence, Immunodeficiency, And Lymphoreticular Malignancies

Nonsyndromal Microcephaly, Autosomal Recessive, With Normal Intelligence

Immunodeficiency, Microcephaly, And Chromosomal Instability

Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome

Microcephaly Immunodeficiency Lymphoreticuloma

Microcephaly With Normal Intelligence Immunodeficiency And Lymphoreticular Malignancies

Nonsyndromal Microcephaly Autosomal Recessive With Normal Intelligence

Seemanova Syndrome 2

Ataxia-Telangiectasia Variant 1

Seemanova Syndrome

At V1

Ataxia-Telangiectasia, Variant 1

Microcephaly-Immunodeficiency-Lymphoid Malignancy Syndrome

V-At

Ataxia Telangiectasia Variant V1

Bloom Syndrome

BLM

Bs

Bls

Bloom-Torre-Machacek Syndrome

Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 1

Mgrisce1

Congenital Telangiectatic Erythema

Congenital Telangiectatic Erythema Syndrome

Growth Deficiency, Sun-Sensitive, Telangiectatic, Hypo And Hyperpigmented Skin, Predisposition To Malignancy And Chromosomal Instability

Bloom'S Syndrome

Bsyn

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

Chronic Congestive Splenomegaly
Dyskeratosis Congenita, Autosomal Dominant 3

DKCA3

Autosomal Dominant Dyskeratosis Congenita 3

Dyskeratosis Congenita, Autosomal Dominant, 3

Dyskeratosis Congenita, Autosomal Dominant, Type 3

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

Coats Disease

Exudative Retinopathy

Retinal Telangiectasis

Coats' Disease

Leber Miliary Aneurysm

Coats' Syndrome

Congenital Retinal Telangiectasia

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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
Felis catus TERF2 VGNC VGNC:66084
Canis familiaris TERF2 VGNC VGNC:49661
Rattus norvegicus TERF2 RGD RGD:1310881
Bos taurus TERF2 VGNC VGNC:35750
Mus musculus TERF2 MGD MGI:1195972
Macaca mulatta TERF2 VGNC VGNC:78312
Others TERF2 NCBI