TERF2IP (TERF2 interacting protein)

2003-11-01  

Identity

HGNC
TERF2IP
LOCATION
16q23.1
LOCUSID
54386
ALIAS
DRIP5,RAP1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54386
MIM: 605061
HGNC: 19246
Ensembl: ENSG00000166848

Variants:

dbSNP: 54386
ClinVar: 54386
TCGA: ENSG00000166848
COSMIC: TERF2IP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166848ENST00000300086Q9NYB0
ENSG00000166848ENST00000564671H3BR63
ENSG00000166848ENST00000569234H3BMI8
ENSG00000166848ENST00000653858A0A590UJT3

Expression (GTEx)

0
50
100
150
200
250
300
350
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Shelterin complexKEGGhsa_M00424
Shelterin complexKEGGM00424
Cell CycleREACTOMER-HSA-1640170
Chromosome MaintenanceREACTOMER-HSA-73886
Telomere MaintenanceREACTOMER-HSA-157579
Packaging Of Telomere EndsREACTOMER-HSA-171306
MeiosisREACTOMER-HSA-1500620
Meiotic synapsisREACTOMER-HSA-1221632
Cellular responses to stressREACTOMER-HSA-2262752
Cellular SenescenceREACTOMER-HSA-2559583
DNA Damage/Telomere Stress Induced SenescenceREACTOMER-HSA-2559586

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
369298402023The human RAP1 and GFAPɛ proteins increase γ-secretase activity in a yeast model system.2
369298402023The human RAP1 and GFAPɛ proteins increase γ-secretase activity in a yeast model system.2
352645622022SGSM2 inhibits thyroid cancer progression by activating RAP1 and enhancing competitive RAS inhibition.4
352645622022SGSM2 inhibits thyroid cancer progression by activating RAP1 and enhancing competitive RAS inhibition.4
336386202021Mex3a promotes oncogenesis through the RAP1/MAPK signaling pathway in colorectal cancer and is inhibited by hsa-miR-6887-3p.38
336386202021Mex3a promotes oncogenesis through the RAP1/MAPK signaling pathway in colorectal cancer and is inhibited by hsa-miR-6887-3p.38
314010462020SHARPIN Promotes Melanoma Progression via Rap1 Signaling Pathway.26
314850192020Hypoxic glioma-derived exosomes deliver microRNA-1246 to induce M2 macrophage polarization by targeting TERF2IP via the STAT3 and NF-κB pathways.162
319853442020Role of telomeric RAP1 in radiation sensitivity modulation and its interaction with CSC marker KLF4 in colorectal cancer.10
328580912020Role of Rap1 in DNA damage response: implications in stem cell homeostasis and cancer.7
329762062020Constitutional variants in POT1, TERF2IP, and ACD genes in patients with melanoma in the Polish population.2
314010462020SHARPIN Promotes Melanoma Progression via Rap1 Signaling Pathway.26
314850192020Hypoxic glioma-derived exosomes deliver microRNA-1246 to induce M2 macrophage polarization by targeting TERF2IP via the STAT3 and NF-κB pathways.162
319853442020Role of telomeric RAP1 in radiation sensitivity modulation and its interaction with CSC marker KLF4 in colorectal cancer.10
328580912020Role of Rap1 in DNA damage response: implications in stem cell homeostasis and cancer.7

Citation

Dessen P

TERF2IP (TERF2 interacting protein)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/42523/case-report-explorer/gene-fusions/?id=42523