TERF2IP TERF2 interacting protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: TERF2IPprovided by HGNC
Official Full Name: TERF2 interacting proteinprovided by HGNC
Primary source: HGNC:HGNC:19246
See related: Ensembl:ENSG00000166848 MIM:605061; AllianceGenome:HGNC:19246
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RAP1; DRIP5
Summary: Enables G-rich strand telomeric DNA binding activity and phosphatase binding activity. Involved in several processes, including positive regulation of NIK/NF-kappaB signaling; regulation of nucleobase-containing compound metabolic process; and regulation of protein modification process. Located in chromosome, telomeric region; cytosol; and nuclear body. Part of shelterin complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in brain (RPKM 81.9), adrenal (RPKM 51.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q23.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (75647773..75657432)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (81696070..81705729)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (75681671..75691330)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The human RAP1 and GFAPvarepsilon proteins increase gamma-secretase activity in a yeast model system.
Title: The human RAP1 and GFAPɛ proteins increase γ-secretase activity in a yeast model system.
Mex3a promotes oncogenesis through the RAP1/MAPK signaling pathway in colorectal cancer and is inhibited by hsa-miR-6887-3p.
Title: Mex3a promotes oncogenesis through the RAP1/MAPK signaling pathway in colorectal cancer and is inhibited by hsa-miR-6887-3p.
SGSM2 inhibits thyroid cancer progression by activating RAP1 and enhancing competitive RAS inhibition.
Title: SGSM2 inhibits thyroid cancer progression by activating RAP1 and enhancing competitive RAS inhibition.
Constitutional variants in POT1, TERF2IP, and ACD genes in patients with melanoma in the Polish population.
Title: Constitutional variants in POT1, TERF2IP, and ACD genes in patients with melanoma in the Polish population.
Role of telomeric RAP1 in radiation sensitivity modulation and its interaction with CSC marker KLF4 in colorectal cancer.
Title: Role of telomeric RAP1 in radiation sensitivity modulation and its interaction with CSC marker KLF4 in colorectal cancer.
Role of Rap1 in DNA damage response: implications in stem cell homeostasis and cancer.
Title: Role of Rap1 in DNA damage response: implications in stem cell homeostasis and cancer.
Disruption of MAGI2-RapGEF2-Rap1 signaling contributes to podocyte dysfunction in congenital nephrotic syndrome caused by mutations in MAGI2.
Title: Disruption of MAGI2-RapGEF2-Rap1 signaling contributes to podocyte dysfunction in congenital nephrotic syndrome caused by mutations in MAGI2.
SHARPIN Promotes Melanoma Progression via Rap1 Signaling Pathway.
Title: SHARPIN Promotes Melanoma Progression via Rap1 Signaling Pathway.
miR-1246 mediated H-GDE-induced M2 macrophage polarization by targeting TERF2IP to activate the STAT3 signaling pathway and inhibit the NF-kappaB signaling pathway
Title: Hypoxic glioma-derived exosomes deliver microRNA-1246 to induce M2 macrophage polarization by targeting TERF2IP via the STAT3 and NF-κB pathways.
We solved the crystal structure of IN-RA-PH to a resolution of 2.4-A. The structure reveals that the IN segment associates with the RA segment and thereby suppresses RIAM:RAP1 association. This autoinhibitory configuration of RIAM can be released by phosphorylation at Tyr45 in the IN segment.
Title: Molecular basis for autoinhibition of RIAM regulated by FAK in integrin activation.

Submit: New GeneRIF Correction See all GeneRIFs (56)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-60699 (e-PCR)
- UniSTS:46864

TERF2IP_1085 (e-PCR)
- UniSTS:277803

SHGC-61067 (e-PCR)
- UniSTS:39259

D16S2999E (e-PCR)
- UniSTS:153950

RH65172 (e-PCR)
- UniSTS:85419

SHGC-60818 (e-PCR)
- UniSTS:2503

RH103951 (e-PCR)
- UniSTS:98276

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G-rich strand telomeric DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables telomeric DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables telomeric DNA binding	IDA Inferred from Direct Assay more info	PubMed
NOT enables telomeric DNA binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in intracellular signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of DNA recombination at telomere	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of telomere maintenance	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of NF-kappaB transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of canonical NF-kappaB signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of non-canonical NF-kappaB signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of telomere maintenance	NAS Non-traceable Author Statement more info	PubMed
involved_in protection from non-homologous end joining at telomere	IBA Inferred from Biological aspect of Ancestor more info
involved_in protection from non-homologous end joining at telomere	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in protection from non-homologous end joining at telomere	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization to chromosome, telomeric region	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of double-strand break repair via homologous recombination	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of telomere maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in telomere capping	IDA Inferred from Direct Assay more info	PubMed
involved_in telomere maintenance	IDA Inferred from Direct Assay more info	PubMed
involved_in telomere maintenance via telomerase	TAS Traceable Author Statement more info	PubMed
involved_in telomere maintenance via telomere lengthening	IBA Inferred from Biological aspect of Ancestor more info
involved_in telomere maintenance via telomere lengthening	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in chromosome, telomeric region	HDA more info	PubMed
located_in chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome, telomeric region	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in male germ cell nucleus	IEA Inferred from Electronic Annotation more info
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nuclear chromosome	TAS Traceable Author Statement more info	PubMed
part_of nuclear telomere cap complex	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
part_of shelterin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of shelterin complex	IDA Inferred from Direct Assay more info	PubMed
part_of shelterin complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: telomeric repeat-binding factor 2-interacting protein 1

Names: TERF2-interacting telomeric protein 1; TRF2-interacting telomeric RAP1 protein; dopamine receptor-interacting protein 5; repressor/activator protein 1 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_051307.2 RefSeqGene

Range

5070..14729

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1084

mRNA and Protein(s)

NM_018975.4 → NP_061848.2 telomeric repeat-binding factor 2-interacting protein 1

See identical proteins and their annotated locations for NP_061848.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the supported protein.

Source sequence(s)

AA769291, AK307901, BC022428

Consensus CDS

CCDS32491.1

UniProtKB/Swiss-Prot

B4DQN4, Q4W4Y2, Q8WYZ3, Q9NWR2, Q9NYB0

Related

ENSP00000300086.4, ENST00000300086.5

Conserved Domains (3) summary

cd11653
Location:306 → 399

rap1_RCT; C-terminal domain of RAP1 recruits proteins to telomeres

pfam08914
Location:132 → 196

Myb_DNA-bind_2; Rap1 Myb domain

pfam16589
Location:17 → 100

BRCT_2; BRCT domain, a BRCA1 C-terminus domain

RNA

NR_144545.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate 5' terminal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AF250393, AK307901, BC022428, BQ695129