1. Gene
  2. TINF2 - TERF1 interacting nuclear factor 2 Gene

TINF2 - TERF1 interacting nuclear factor 2 Gene

中文名称:TERF1 相互作用核因子 2

种属: Homo sapiens

同用名: TIN2; DKCA3

基因 ID: 26277 | 基因类型: protein coding

关于 TINF2

Cytogenetic location: 14q12 Genomic coordinates (GRCh38): 14:24,239,640-24,242,674 (from NCBI)

This gene has 33 transcripts (splice variants), 1 gene allele, 315 orthologues and is associated with 7 phenotypes. Ubiquitous expression in lymph node (RPKM 21.4), adrenal (RPKM 21.1) and 25 other tissues.

功能概要

该基因编码 shelterin 或端粒复合物的一种蛋白质,它通过允许细胞区分端粒和 DNA 损伤区域来保护端粒。该基因编码的蛋白质是 shelterin 的重要组成部分;它与 shelterin 复合物的三种 DNA 结合蛋白相互作用,对复合物的组装很重要。该基因的突变会导致先天性角化不良 (DKC) ,这是一种遗传性骨髓衰竭综合征。[RefSeq 提供,2010 年 3 月]

This gene encodes one of the proteins of the shelterin, or telosome, complex which protects telomeres by allowing the cell to distinguish between telomeres and regions of DNA damage. The protein encoded by this gene is a critical part of shelterin; it interacts with the three DNA-binding proteins of the shelterin complex, and it is important for assembly of the complex. Mutations in this gene cause dyskeratosis congenita (DKC), an inherited bone marrow failure syndrome. [provided by RefSeq, Mar 2010]

TINF2 基因产物(3)

mRNA Protein Name
NM_001099274.3 NP_001092744.1 TERF1-interacting nuclear factor 2 isoform 1
NM_001363668.2 NP_001350597.1 TERF1-interacting nuclear factor 2 isoform 3
NM_012461.3 NP_036593.2 TERF1-interacting nuclear factor 2 isoform 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
NOT enables DNA binding IDA
IDA: 通过直接分析推断
10581025 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11701125 GOA
enables telomeric DNA binding IDA
IDA: 通过直接分析推断
12768206 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in chromosome, telomeric region IDA
IDA: 通过直接分析推断
10581025 GOA
part of nuclear telomere cap complex IDA
IDA: 通过直接分析推断
16880378 GOA
located in perinucleolar chromocenter IDA
IDA: 通过直接分析推断
15741234 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

TINF2 蛋白结构

TINF2_N

TINF2_N: TERF1-interacting nuclear factor 2 N-terminus (20 - 169)

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

TERF1-interacting nuclear factor 2

TERF1 (TRF1)-interacting nuclear factor 2

TINF2 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
种属内
TINF2 Q9BSI4 LGALSL Homo sapiens Q3ZCW2
BiFC
21044950
种属内
TINF2 Q9BSI4 PAGE2 Homo sapiens Q7Z2X7
BiFC
21044950
种属内
TINF2 Q9BSI4 NCDN Homo sapiens Q9UBB6
BiFC
21044950
种属内
TINF2 Q9BSI4 TAGLN Homo sapiens Q01995
BiFC
21044950
种属内
TINF2 Q9BSI4 TXNDC17 Homo sapiens Q9BRA2
BiFC
21044950
种属内
TINF2 Q9BSI4 PPP1R2 Homo sapiens P41236
BiFC
21044950
种属内
TINF2 Q9BSI4 FAM131B Homo sapiens Q86XD5
BiFC
21044950
种属内
TINF2 Q9BSI4 CCDC9 Homo sapiens Q9Y3X0
BiFC
21044950
种属内
TINF2 Q9BSI4 ANXA5 Homo sapiens P08758
BiFC
21044950
种属内
TINF2 Q9BSI4 ACTB Homo sapiens P60709
BiFC
21044950
种属内
TINF2 Q9BSI4 GAPDH Homo sapiens P04406
BiFC
21044950
种属内
TINF2 Q9BSI4 PGM2 Homo sapiens Q96G03
BiFC
21044950
种属内
TINF2 Q9BSI4 PEX5 Homo sapiens P50542
BiFC
21044950
种属内
TINF2 Q9BSI4 PRKCB Homo sapiens P05771
BiFC
21044950
种属内
TINF2 Q9BSI4 TERF2 Homo sapiens Q15554
Anti Tag CoIP
33961781
种属内
TINF2 Q9BSI4 TERF2 Homo sapiens Q15554
BiFC
21044950
种属内
TINF2 Q9BSI4 TERF2 Homo sapiens Q15554
Anti Tag CoIP
26496610
种属内
TINF2 Q9BSI4 TERF2 Homo sapiens Q15554
Anti Tag CoIP
16880378
种属内
TINF2 Q9BSI4 TERF1 Homo sapiens P54274
Anti Tag CoIP
16880378
种属内
TINF2 Q9BSI4 TERF1 Homo sapiens P54274
MAPPIT
25416956
种属内
TINF2 Q9BSI4 TERF1 Homo sapiens P54274
Anti Tag CoIP
26496610
种属内
TINF2 Q9BSI4 TERF1 Homo sapiens P54274
Pull Down
21044950
种属内
TINF2 Q9BSI4 TERF1 Homo sapiens P54274
BiFC
21044950
种属内
TINF2 Q9BSI4 ENO2 Homo sapiens P09104
BiFC
21044950
种属内
TINF2 Q9BSI4 ACD Homo sapiens Q96AP0
Anti Tag CoIP
26496610
种属内
TINF2 Q9BSI4 ACD Homo sapiens Q96AP0
Anti Tag CoIP
16880378
种属内
TINF2 Q9BSI4 ACD Homo sapiens Q96AP0
BiFC
21044950
种属内
TINF2 Q9BSI4 ACD Homo sapiens Q96AP0
MAPPIT
25416956
种属内
TINF2 Q9BSI4 ACD Homo sapiens Q96AP0
Y2H Array
25416956
种属内
TINF2 Q9BSI4 ACD Homo sapiens Q96AP0
Anti Tag CoIP
33961781
种属内
TINF2 Q9BSI4 ACD Homo sapiens Q96AP0
Validated Y2H
25910212
种属内
TINF2 Q9BSI4 ACD Homo sapiens Q96AP0
Y2H Array
31515488
种属内
TINF2 Q9BSI4 ACD Homo sapiens Q96AP0
Y2H Bait-Prey Pool
25910212
种属内
TINF2 Q9BSI4 ACD Homo sapiens Q96AP0
Y2H Array
25910212
种属内
TINF2 Q9BSI4 ACD Homo sapiens Q96AP0
Validated Y2H
25416956
种属内
TINF2 Q9BSI4 CPNE3 Homo sapiens O75131
BiFC
21044950
种属内
TINF2 Q9BSI4 TRIM16 Homo sapiens O95361
BiFC
21044950
种属内
TINF2 Q9BSI4 NOL3 Homo sapiens O60936
BiFC
21044950
种属内
TINF2 Q9BSI4 KCTD17 Homo sapiens Q8N5Z5
BiFC
21044950
种属内
TINF2 Q9BSI4 CLK3 Homo sapiens P49761
BiFC
21044950
种属内
TINF2 Q9BSI4 POT1 Homo sapiens Q9NUX5
BiFC
21044950
种属内
TINF2 Q9BSI4 POT1 Homo sapiens Q9NUX5
Anti Tag CoIP
26496610
种属内
TINF2 Q9BSI4 POT1 Homo sapiens Q9NUX5
Anti Tag CoIP
33961781
种属内
TINF2 Q9BSI4 EIF4B Homo sapiens P23588
BiFC
21044950
种属间: 跨种属相互作用 种属内: 同种属相互作用

TINF2 抗体

目录号 产品名 应用 反应物种
HY-P82381 TINF2 Antibody (YA2126) WB Human, Mouse, Rat

关联疾病

疾病名称 别名
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 Dominant 3

DKCA3

Autosomal Dominant Dyskeratosis Congenita 3

Dyskeratosis Congenita, Autosomal Dominant, 3

Dyskeratosis Congenita, Autosomal Dominant, Type 3

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

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

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

Pulmonary Fibrosis

Fibrosis Of Lung

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

Retinal Telangiectasia
Cerebellar Hypoplasia
Focal Segmental Glomerulosclerosis 3

FSGS3

Focal Segmental Glomerulosclerosis 3, Susceptibility To

Glomerulosclerosis, Focal Segmental, 3

Glomerulosclerosis, Focal Segmental, 3, Susceptibility To

Glomerulosclerosis, Segmental, Focal, Type 3, Susceptibility To

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

Coats Disease

Exudative Retinopathy

Retinal Telangiectasis

Coats' Disease

Leber Miliary Aneurysm

Coats' Syndrome

Congenital Retinal Telangiectasia

Fanconi-Like Syndrome

Fanconi Like 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

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

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

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

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

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
Mus musculus TINF2 MGD MGI:107246
Bos taurus TINF2 VGNC VGNC:35876
Canis familiaris TINF2 VGNC VGNC:47381
Macaca mulatta TINF2 VGNC VGNC:78359
Felis catus TINF2 VGNC VGNC:66197
Rattus norvegicus TINF2 RGD RGD:1359192