TERF2 - telomeric repeat binding factor 2 Gene

Also Known as TRF2; TRBF2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7014

About 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.

Summary

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 Products (1)

mRNA	Protein	Name
NM_005652.5	NP_005643.2	telomeric repeat-binding factor 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables G-rich strand telomeric DNA binding	IDA IDA: Inferred from direct assay	17694070	GOA
enables double-stranded telomeric DNA binding	IDA IDA: Inferred from direct assay	18812185	GOA
enables enzyme binding	IPI IPI: Inferred from physical interaction	20479256	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10984620	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	9326950	GOA
enables protein-containing complex binding	IPI IPI: Inferred from physical interaction	14690602	GOA
contributes to telomerase activity	IDA IDA: Inferred from direct assay	23685356	GOA
enables telomeric DNA binding	IDA IDA: Inferred from direct assay	19854130	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of beta-galactosidase activity	IDA IDA: Inferred from direct assay	11927518	GOA
involved in negative regulation of cellular senescence	IMP IMP: Inferred from mutant phenotype	11927518	GOA
involved in negative regulation of exonuclease activity	IDA IDA: Inferred from direct assay	15200954	GOA
involved in negative regulation of gene expression	IMP IMP: Inferred from mutant phenotype	11927518	GOA
involved in negative regulation of t-circle formation	IMP IMP: Inferred from mutant phenotype	15507207	GOA
involved in negative regulation of telomere capping	IMP IMP: Inferred from mutant phenotype	24270157	GOA
involved in negative regulation of telomere maintenance	IMP IMP: Inferred from mutant phenotype	11971978	GOA
involved in negative regulation of telomere maintenance via recombination	IMP IMP: Inferred from mutant phenotype	15507207	GOA
involved in negative regulation of telomere maintenance via telomerase	IDA IDA: Inferred from direct assay	17055345	GOA
involved in negative regulation of telomere maintenance via telomere lengthening	IMP IMP: Inferred from mutant phenotype	24012755	GOA
involved in negative regulation of telomeric D-loop disassembly	IDA IDA: Inferred from direct assay	15200954	GOA
involved in positive regulation of gene expression	IMP IMP: Inferred from mutant phenotype	11927518	GOA
involved in positive regulation of nitric-oxide synthase activity	IMP IMP: Inferred from mutant phenotype	11927518	GOA
involved in positive regulation of telomere maintenance	IDA IDA: Inferred from direct assay	24012755	GOA
involved in protection from non-homologous end joining at telomere	IMP IMP: Inferred from mutant phenotype	14690602	GOA
involved in protection from non-homologous end joining at telomere	IPI IPI: Inferred from physical interaction	24095731	GOA
involved in protein localization to chromosome, telomeric region	IMP IMP: Inferred from mutant phenotype	17499040	GOA
involved in regulation of telomere maintenance	IMP IMP: Inferred from mutant phenotype	22536324	GOA
involved in regulation of telomere maintenance via telomerase	IDA IDA: Inferred from direct assay	23685356	GOA
involved in regulation of telomere maintenance via telomerase	IMP IMP: Inferred from mutant phenotype	19864690	GOA
involved in telomere capping	IDA IDA: Inferred from direct assay	21852327	GOA
involved in telomere capping	IMP IMP: Inferred from mutant phenotype	12768206	GOA
involved in telomere maintenance	IDA IDA: Inferred from direct assay	28216226	GOA
involved in telomere maintenance	IMP IMP: Inferred from mutant phenotype	20655466	GOA
involved in telomeric D-loop disassembly	IGI IGI: Inferred from genetic interaction	22039056	GOA
involved in telomeric loop formation	IDA IDA: Inferred from direct assay	10338214	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in chromosome, telomeric region	IDA IDA: Inferred from direct assay	28216226	GOA
located in chromosome, telomeric region	IDA IDA: Inferred from direct assay	12768206	GOA
part of nuclear telomere cap complex	IDA IDA: Inferred from direct assay	15181449	GOA
located in nucleus	IDA IDA: Inferred from direct assay	17055345	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

TERF2 Protein Structure

TRF

Myb_DNA-binding

0
100
200
300
400
500
542 a.a.

Protein Preferred Names	Protein Names
telomeric repeat-binding factor 2	TTAGGG repeat-binding factor 2

TERF2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Cross: Cross-species interaction Intra: Intraspecies interaction

TERF2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82559	Telomeric Repeat Binding Factor 2 Antibody (YA2304)	WB, IHC-P, ICC/IF	Human
HY-P84591	Telomeric Repeat Binding Factor 2 Antibody (YA4288)	IHC-P, ELISA	Human
HY-P84591A	Telomeric Repeat Binding Factor 2 Antibody (YA4288)(PBS only)	IHC-P, ELISA	Human

Related Diseases

Diseases	Alias
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

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14373	TERF2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS14374	TERF2IP Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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