TERF2 - telomeric repeat binding factor 2 Gene

Homo sapiens

Also known as TRF2; TRBF2

Gene ID: 7014 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (2)

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

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