TINF2 - TERF1 interacting nuclear factor 2 Gene

Also Known as TIN2; DKCA3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 26277

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
NOT enables DNA binding	IDA IDA: Inferred from direct assay	10581025	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11701125	GOA
enables telomeric DNA binding	IDA IDA: Inferred from direct assay	12768206	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of epithelial cell proliferation	IMP IMP: Inferred from mutant phenotype	15741234	GOA
involved in negative regulation of protein ADP-ribosylation	IDA IDA: Inferred from direct assay	15133513	GOA
involved in negative regulation of telomere maintenance via telomerase	IGI IGI: Inferred from genetic interaction	10581025	GOA
involved in negative regulation of telomere maintenance via telomerase	IMP IMP: Inferred from mutant phenotype	15133513	GOA
involved in protein localization to chromosome, telomeric region	IDA IDA: Inferred from direct assay	20404094	GOA
involved in protein localization to chromosome, telomeric region	IMP IMP: Inferred from mutant phenotype	15133513	GOA
involved in regulation of telomere maintenance via telomere lengthening	IMP IMP: Inferred from mutant phenotype	18669893	GOA
involved in telomere assembly	IMP IMP: Inferred from mutant phenotype	16880378	GOA
involved in telomere capping	IDA IDA: Inferred from direct assay	21852327	GOA
involved in telomere capping	IMP IMP: Inferred from mutant phenotype	15133513	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in chromosome, telomeric region	IDA IDA: Inferred from direct assay	10581025	GOA
part of nuclear telomere cap complex	IDA IDA: Inferred from direct assay	16880378	GOA
located in perinucleolar chromocenter	IDA IDA: Inferred from direct assay	15741234	GOA
part of shelterin complex	IDA IDA: Inferred from direct assay	15383534	GOA
part of shelterin complex	IMP IMP: Inferred from mutant phenotype	21852327	GOA
part of shelterin complex	IPI IPI: Inferred from physical interaction	15383534	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TINF2 Protein Structure

TINF2_N

0
100
200
300
400
451 a.a.

Protein Preferred Names	Protein Names
TERF1-interacting nuclear factor 2	TERF1 (TRF1)-interacting nuclear factor 2

TINF2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TINF2	Q9BSI4	LGALSL	Homo sapiens	Q3ZCW2	BiFC	21044950
Intra	TINF2	Q9BSI4	PAGE2	Homo sapiens	Q7Z2X7	BiFC	21044950
Intra	TINF2	Q9BSI4	NCDN	Homo sapiens	Q9UBB6	BiFC	21044950
Intra	TINF2	Q9BSI4	TAGLN	Homo sapiens	Q01995	BiFC	21044950
Intra	TINF2	Q9BSI4	TXNDC17	Homo sapiens	Q9BRA2	BiFC	21044950
Intra	TINF2	Q9BSI4	PPP1R2	Homo sapiens	P41236	BiFC	21044950
Intra	TINF2	Q9BSI4	FAM131B	Homo sapiens	Q86XD5	BiFC	21044950
Intra	TINF2	Q9BSI4	CCDC9	Homo sapiens	Q9Y3X0	BiFC	21044950
Intra	TINF2	Q9BSI4	ANXA5	Homo sapiens	P08758	BiFC	21044950
Intra	TINF2	Q9BSI4	ACTB	Homo sapiens	P60709	BiFC	21044950
Intra	TINF2	Q9BSI4	GAPDH	Homo sapiens	P04406	BiFC	21044950
Intra	TINF2	Q9BSI4	PGM2	Homo sapiens	Q96G03	BiFC	21044950
Intra	TINF2	Q9BSI4	PEX5	Homo sapiens	P50542	BiFC	21044950
Intra	TINF2	Q9BSI4	PRKCB	Homo sapiens	P05771	BiFC	21044950
Intra	TINF2	Q9BSI4	TERF2	Homo sapiens	Q15554	Anti Tag CoIP	33961781
Intra	TINF2	Q9BSI4	TERF2	Homo sapiens	Q15554	BiFC	21044950
Intra	TINF2	Q9BSI4	TERF2	Homo sapiens	Q15554	Anti Tag CoIP	26496610
Intra	TINF2	Q9BSI4	TERF2	Homo sapiens	Q15554	Anti Tag CoIP	16880378
Intra	TINF2	Q9BSI4	TERF1	Homo sapiens	P54274	Anti Tag CoIP	16880378
Intra	TINF2	Q9BSI4	TERF1	Homo sapiens	P54274	MAPPIT	25416956
Intra	TINF2	Q9BSI4	TERF1	Homo sapiens	P54274	Anti Tag CoIP	26496610
Intra	TINF2	Q9BSI4	TERF1	Homo sapiens	P54274	Pull Down	21044950
Intra	TINF2	Q9BSI4	TERF1	Homo sapiens	P54274	BiFC	21044950
Intra	TINF2	Q9BSI4	ENO2	Homo sapiens	P09104	BiFC	21044950
Intra	TINF2	Q9BSI4	ACD	Homo sapiens	Q96AP0	Anti Tag CoIP	26496610
Intra	TINF2	Q9BSI4	ACD	Homo sapiens	Q96AP0	Anti Tag CoIP	16880378
Intra	TINF2	Q9BSI4	ACD	Homo sapiens	Q96AP0	BiFC	21044950
Intra	TINF2	Q9BSI4	ACD	Homo sapiens	Q96AP0	MAPPIT	25416956
Intra	TINF2	Q9BSI4	ACD	Homo sapiens	Q96AP0	Y2H Array	25416956
Intra	TINF2	Q9BSI4	ACD	Homo sapiens	Q96AP0	Anti Tag CoIP	33961781
Intra	TINF2	Q9BSI4	ACD	Homo sapiens	Q96AP0	Validated Y2H	25910212
Intra	TINF2	Q9BSI4	ACD	Homo sapiens	Q96AP0	Y2H Array	31515488
Intra	TINF2	Q9BSI4	ACD	Homo sapiens	Q96AP0	Y2H Bait-Prey Pool	25910212
Intra	TINF2	Q9BSI4	ACD	Homo sapiens	Q96AP0	Y2H Array	25910212
Intra	TINF2	Q9BSI4	ACD	Homo sapiens	Q96AP0	Validated Y2H	25416956
Intra	TINF2	Q9BSI4	CPNE3	Homo sapiens	O75131	BiFC	21044950
Intra	TINF2	Q9BSI4	TRIM16	Homo sapiens	O95361	BiFC	21044950
Intra	TINF2	Q9BSI4	NOL3	Homo sapiens	O60936	BiFC	21044950
Intra	TINF2	Q9BSI4	KCTD17	Homo sapiens	Q8N5Z5	BiFC	21044950
Intra	TINF2	Q9BSI4	CLK3	Homo sapiens	P49761	BiFC	21044950
Intra	TINF2	Q9BSI4	POT1	Homo sapiens	Q9NUX5	BiFC	21044950
Intra	TINF2	Q9BSI4	POT1	Homo sapiens	Q9NUX5	Anti Tag CoIP	26496610
Intra	TINF2	Q9BSI4	POT1	Homo sapiens	Q9NUX5	Anti Tag CoIP	33961781
Intra	TINF2	Q9BSI4	EIF4B	Homo sapiens	P23588	BiFC	21044950

Cross: Cross-species interaction Intra: Intraspecies interaction

TINF2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82381	TINF2 Antibody (YA2126)	WB	Human, Mouse, Rat

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14545	TINF2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22863	Tinf2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29377	Tinf2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	TINF2	NCBI