TINF2 - TERF1 interacting nuclear factor 2 Gene

Homo sapiens

Also known as TIN2; DKCA3

Gene ID: 26277 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14545	TINF2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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