TERF2IP - TERF2 interacting protein Gene

Homo sapiens

Also known as RAP1; DRIP5

Gene ID: 54386 | Gene type: protein coding

About TERF2IP

Cytogenetic location: 16q23.1 Genomic coordinates (GRCh38): 16:75,647,773-75,657,432 (from NCBI)

This gene has 5 transcripts (splice variants), 188 orthologues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 81.9), adrenal (RPKM 51.2) and 25 other tissues.

Summary

The gene encodes a protein that is part of a complex involved in telomere length regulation. Pseudogenes are present on chromosomes 5 and 22. [provided by RefSeq, Apr 2010]

TERF2IP Products(1)

mRNA	Protein	Name
NM_018975.4	NP_061848.2	telomeric repeat-binding factor 2-interacting protein 1

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 phosphatase binding	IPI IPI: Inferred from physical interaction	23178297	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	14690602	GOA
enables telomeric DNA binding	IDA IDA: Inferred from direct assay	23685356	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in intracellular signal transduction	IMP IMP: Inferred from mutant phenotype	23867755	GOA
involved in negative regulation of protein phosphorylation	IMP IMP: Inferred from mutant phenotype	23178297	GOA
involved in negative regulation of telomere maintenance	IDA IDA: Inferred from direct assay	17055345	GOA
involved in positive regulation of non-canonical NF-kappaB signal transduction	IMP IMP: Inferred from mutant phenotype	23178297	GOA
involved in protection from non-homologous end joining at telomere	IMP IMP: Inferred from mutant phenotype	17499040	GOA
involved in protein localization to chromosome, telomeric region	IMP IMP: Inferred from mutant phenotype	17499040	GOA
involved in regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	23178297	GOA
involved in regulation of telomere maintenance	IMP IMP: Inferred from mutant phenotype	15100233	GOA
involved in telomere capping	IDA IDA: Inferred from direct assay	21852327	GOA
involved in telomere maintenance	IDA IDA: Inferred from direct assay	14565979	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in chromosome, telomeric region	IDA IDA: Inferred from direct assay	12768206	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	23178297	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	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

TERF2IP Protein Structure

Myb_DNA-bind_2

Rap1_C

0
100
200
300
399 a.a.

Protein Preferred Names

Protein Names

telomeric repeat-binding factor 2-interacting protein 1

TERF2-interacting telomeric protein 1

TERF2IP Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	TERF2IP	Q9NYB0	TALDO1	Homo sapiens	P37837	BiFC	21044950
Intra	TERF2IP	Q9NYB0	RBBP9	Homo sapiens	O75884	BiFC	21044950
Intra	TERF2IP	Q9NYB0	SLX4	Homo sapiens	Q8IY92	Confocal	19596235
Intra	TERF2IP	Q9NYB0	TBCA	Homo sapiens	O75347	BiFC	21044950
Intra	TERF2IP	Q9NYB0	SCLY	Homo sapiens	Q96I15	BiFC	21044950
Intra	TERF2IP	Q9NYB0	AKT1	Homo sapiens	P31749	BiFC	21044950
Intra	TERF2IP	Q9NYB0	XRCC6	Homo sapiens	P12956	Anti Tag CoIP	15383534
Intra	TERF2IP	Q9NYB0	XRCC6	Homo sapiens	P12956	BiFC	21044950
Intra	TERF2IP	Q9NYB0	AKR1A1	Homo sapiens	P14550	BiFC	21044950
Intra	TERF2IP	Q9NYB0	FABP2	Homo sapiens	P12104	BiFC	21044950
Intra	TERF2IP	Q9NYB0	PCP4	Homo sapiens	P48539	BiFC	21044950
Intra	TERF2IP	Q9NYB0	NUMA1	Homo sapiens	Q14980	BiFC	21044950
Intra	TERF2IP	Q9NYB0	WDR5	Homo sapiens	P61964	BiFC	21044950
Intra	TERF2IP	Q9NYB0	TERF2	Homo sapiens	Q15554	Anti Tag CoIP	15383534
Intra	TERF2IP	Q9NYB0	PEA15	Homo sapiens	Q15121	BiFC	21044950
Intra	TERF2IP	Q9NYB0	PEA15	Homo sapiens	Q15121	Pull Down	21044950
Intra	TERF2IP	Q9NYB0	UCHL1	Homo sapiens	P09936	BiFC	21044950
Intra	TERF2IP	Q9NYB0	NASP	Homo sapiens	P49321	BiFC	21044950
Intra	TERF2IP	Q9NYB0	TSSC4	Homo sapiens	Q9Y5U2	BiFC	21044950
Intra	TERF2IP	Q9NYB0	TINF2	Homo sapiens	Q9BSI4-3	Pull Down	15383534
Intra	TERF2IP	Q9NYB0	TINF2	Homo sapiens	Q9BSI4-3	Anti Tag CoIP	15383534
Intra	TERF2IP	Q9NYB0	CHMP2B	Homo sapiens	Q9UQN3	BiFC	21044950
Intra	TERF2IP	Q9NYB0	ZNF414	Homo sapiens	Q96IQ9	BiFC	21044950
Intra	TERF2IP	Q9NYB0	AIMP2	Homo sapiens	Q13155	BiFC	21044950
Intra	TERF2IP	Q9NYB0	GAGE5	Homo sapiens	Q13069	BiFC	21044950
Intra	TERF2IP	Q9NYB0	BABAM1	Homo sapiens	Q9NWV8	BiFC	21044950
Intra	TERF2IP	Q9NYB0	GPKOW	Homo sapiens	Q92917	BiFC	21044950
Intra	TERF2IP	Q9NYB0	XAGE2	Homo sapiens	Q96GT9	BiFC	21044950
Intra	TERF2IP	Q9NYB0	MT3	Homo sapiens	P25713	BiFC	21044950

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

Dyskeratosis Congenita, Autosomal Recessive 6

DKCB6	Autosomal Recessive Dyskeratosis Congenita 6
Dyskeratosis Congenita, Autosomal Recessive, 6	Dyskeratosis Congenita, Autosomal Recessive, Type 6

Dyskeratosis Congenita, Autosomal Recessive 1

DKCB1	Autosomal Recessive Dyskeratosis Congenita 1
Dyskeratosis Congenita, Autosomal Recessive, 1	Dyskeratosis Congenita, Autosomal Recessive, Type 1

Melanoma-Astrocytoma Syndrome

Melanoma And Neural System Tumor Syndrome	Melanoma Astrocytoma Syndrome
MASTS

Coats Disease

Exudative Retinopathy	Retinal Telangiectasis
Coats' Disease	Leber Miliary Aneurysm
Coats' Syndrome	Congenital Retinal Telangiectasia

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

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-RS14374	TERF2IP Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	TERF2IP	VGNC	VGNC:49734
Felis catus	TERF2IP	VGNC	VGNC:66085
Mus musculus	TERF2IP	MGD	MGI:1929871
Macaca mulatta	TERF2IP	VGNC	VGNC:79187
Bos taurus	TERF2IP	VGNC	VGNC:50057

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