InnateDB Protein
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IDBP-230665.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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TINF2
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Protein Name
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TERF1 (TRF1)-interacting nuclear factor 2
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000382350
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InnateDB Gene
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IDBG-3746 (TINF2)
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Protein Structure
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Function |
Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Plays a role in shelterin complex assembly. Isoform 1 may have additional role in tethering telomeres to the nuclear matrix. {ECO:0000269PubMed:16166375, ECO:0000269PubMed:16880378}.
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Subcellular Localization |
Nucleus {ECO:0000269PubMed:19279399}. Chromosome, telomere {ECO:0000269PubMed:19279399}. Note=Associated with telomeres.Isoform 1: Nucleus matrix {ECO:0000269PubMed:19229133}.
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Disease Associations |
Dyskeratosis congenita, autosomal dominant, 3 (DKCA3) [MIM:613990]: A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. {ECO:0000269PubMed:18252230}. Note=The disease is caused by mutations affecting the gene represented in this entry.Dyskeratosis congenita, autosomal dominant, 5 (DKCA5) [MIM:268130]: A disease characterized by bone marrow hypoplasia, nail dystrophy, fine sparse hair, fine reticulate skin pigmentation, oral leukoplakia, bilateral exudative retinopathy, cerebellar hypoplasia, and growth retardation. {ECO:0000269PubMed:18252230}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 107 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated |
Total |
109
[view]
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Protein-Protein |
109
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
GO:0000723
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telomere maintenance
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GO:0010833
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telomere maintenance via telomere lengthening
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GO:0010836
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negative regulation of protein ADP-ribosylation
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GO:0032202
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telomere assembly
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GO:0032206
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positive regulation of telomere maintenance
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GO:0032211
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negative regulation of telomere maintenance via telomerase
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GO:0034502
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protein localization to chromosome
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GO:0050680
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negative regulation of epithelial cell proliferation
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GO:0070198
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protein localization to chromosome, telomeric region
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9BSI4
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PhosphoSite |
PhosphoSite-Q9BSI4
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TrEMBL |
Q86TZ8
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UniProt Splice Variant |
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Entrez Gene |
26277
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UniGene |
Hs.496191
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RefSeq |
NP_036593
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HUGO |
HGNC:11824
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OMIM |
604319
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CCDS |
CCDS41937
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HPRD |
16056
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IMGT |
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EMBL |
AF195512
AK023166
AL096870
BC005030
BC019343
BX161478
EU851975
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GenPept |
AAF18439
AAH05030
AAH19343
ACF17559
BAB14440
CAD61933
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