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
213152592011Reelin regulates cadherin function via Dab1/Rap1 to control neuronal migration and lamination in the neocortex.144
206228692010Mammalian Rap1 controls telomere function and gene expression through binding to telomeric and extratelomeric sites.106
174990402007A RAP1/TRF2 complex inhibits nonhomologous end-joining at human telomeric DNA ends.74
206228702010Telomere-independent Rap1 is an IKK adaptor and regulates NF-kappaB-dependent gene expression.68
214232782011Human telomeric proteins occupy selective interstitial sites.67
243169692014Increased sugar uptake promotes oncogenesis via EPAC/RAP1 and O-GlcNAc pathways.65
212093892010How shelterin solves the telomere end-protection problem.62
200323042010Vascular endothelial-cadherin stabilizes at cell-cell junctions by anchoring to circumferential actin bundles through alpha- and beta-catenins in cyclic AMP-Epac-Rap1 signal-activated endothelial cells.55
255052542015Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma.49
200393652010A unique interplay between Rap1 and E-cadherin in the endocytic pathway regulates self-renewal of human embryonic stem cells.41

Citation

Dessen P

TERF2IP (TERF2 interacting protein)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/42523/terf2ip