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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 (TERF2 Interacting Protein) is a Protein Coding gene. Diseases associated with TERF2IP include Melanoma, Cutaneous Malignant 1 and Revesz Syndrome. Among its related pathways are Telomere Extension by Telomerase and Chromatin Regulation / Acetylation. Gene Ontology (GO) annotations related to this gene include telomeric DNA binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003677 | DNA binding | IEA | -- |
GO:0005515 | protein binding | IPI | 14690602 |
GO:0019902 | phosphatase binding | IPI | 23178297 |
GO:0042162 | NOT telomeric DNA binding | IDA,TAS | 10850490 |
GO:0098505 | G-rich strand telomeric DNA binding | IDA | 17694070 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000228 | nuclear chromosome | TAS | 10850490 |
GO:0000781 | chromosome, telomeric region | IEA,ISS | -- |
GO:0000783 | nuclear telomere cap complex | IDA | 15181449 |
GO:0005634 | nucleus | IEA,ISS | -- |
GO:0005654 | nucleoplasm | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cellular Senescence (REACTOME) | ||
2 | Chromosome Maintenance | ||
3 | DNA Damage/Telomere Stress Induced Senescence | ||
4 | Meiosis |
.73
|
.66
|
5 | Chromatin Regulation / Acetylation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000723 | telomere maintenance | IEA,IDA | 14565979 |
GO:0001933 | negative regulation of protein phosphorylation | IMP | 23178297 |
GO:0006355 | regulation of transcription, DNA-templated | IEA,ISS | -- |
GO:0007004 | telomere maintenance via telomerase | TAS | 10850490 |
GO:0010569 | regulation of double-strand break repair via homologous recombination | IEA,ISS | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 |
---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||
SP2: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TERF2IP 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TERF2IP 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TERF2IP 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Terf2ip 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Terf2ip 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | TERF2IP 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TERF2IP 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TERF2IP 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TERF2IP 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | terf2ip 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | terf2ip 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs4888444 | - |
p.Lys324Glu |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1065543 | CNV | loss | 25217958 |
nsv1881 | CNV | insertion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
melanoma, cutaneous malignant 1 |
|
|
revesz syndrome |
|
|
coats disease |
|
|
dyskeratosis congenita |
|
|
skin melanoma |
|
|