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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
14
Cytoband
q12
Chromosome location (bp)
24238286 - 24242663
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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....show less
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes one of the proteins of the shelterin, or telosome, complex which protects telomeres by allowing the cell to distinguish between telomeres and regions of DNA damage. The protein encoded by this gene is a critical part of shelterin; it interacts with the three DNA-binding proteins of the shelterin complex, and it is important for assembly of the complex. Mutations in this gene cause dyskeratosis congenita (DKC), an inherited bone marrow failure syndrome. [provided by RefSeq, Mar 2010]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Disease related genes Human disease related genes Congenital malformations Other congenital malformations Other congenital disorders Ribosomopathies Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000781[chromosome, telomeric region] GO:0000783[nuclear telomere cap complex] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0010370[perinucleolar chromocenter] GO:0010836[negative regulation of protein ADP-ribosylation] GO:0016233[telomere capping] GO:0016363[nuclear matrix] GO:0016604[nuclear body] GO:0032202[telomere assembly] GO:0032206[positive regulation of telomere maintenance] GO:0032211[negative regulation of telomere maintenance via telomerase] GO:0042162[telomeric DNA binding] GO:0050680[negative regulation of epithelial cell proliferation] GO:0070187[shelterin complex] GO:0070198[protein localization to chromosome, telomeric region] GO:1904356[regulation of telomere maintenance via telomere lengthening]
Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Disease related genes Human disease related genes Congenital malformations Other congenital malformations Other congenital disorders Ribosomopathies Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000781[chromosome, telomeric region] GO:0000783[nuclear telomere cap complex] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0010370[perinucleolar chromocenter] GO:0010836[negative regulation of protein ADP-ribosylation] GO:0016233[telomere capping] GO:0016363[nuclear matrix] GO:0016604[nuclear body] GO:0032202[telomere assembly] GO:0032206[positive regulation of telomere maintenance] GO:0032211[negative regulation of telomere maintenance via telomerase] GO:0042162[telomeric DNA binding] GO:0050680[negative regulation of epithelial cell proliferation] GO:0070187[shelterin complex] GO:0070198[protein localization to chromosome, telomeric region] GO:1904356[regulation of telomere maintenance via telomere lengthening]
Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Human disease related genes Congenital malformations Other congenital malformations Other congenital disorders Ribosomopathies Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Other congenital disorders Ribosomopathies Protein evidence (Ezkurdia et al 2014)
Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Human disease related genes Congenital malformations Other congenital malformations Other congenital disorders Ribosomopathies Protein evidence (Ezkurdia et al 2014)
Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Human disease related genes Congenital malformations Other congenital malformations Other congenital disorders Ribosomopathies Protein evidence (Ezkurdia et al 2014)
B4DFJ1 [Direct mapping] TERF1-interacting nuclear factor 2; cDNA FLJ53728, highly similar to TERF1-interacting nuclear factor 2
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Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Human disease related genes Congenital malformations Other congenital malformations Other congenital disorders Ribosomopathies Protein evidence (Ezkurdia et al 2014)
Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Human disease related genes Congenital malformations Other congenital malformations Other congenital disorders Ribosomopathies Protein evidence (Ezkurdia et al 2014)
Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Human disease related genes Congenital malformations Other congenital malformations Other congenital disorders Ribosomopathies Protein evidence (Ezkurdia et al 2014)
Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Human disease related genes Congenital malformations Other congenital malformations Other congenital disorders Ribosomopathies Protein evidence (Ezkurdia et al 2014)
Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Human disease related genes Congenital malformations Other congenital malformations Other congenital disorders Ribosomopathies Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
