Q9BSI4 · TINF2_HUMAN
- ProteinTERF1-interacting nuclear factor 2
- GeneTINF2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids451 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | chromosome, telomeric region | |
Cellular Component | nuclear body | |
Cellular Component | nuclear matrix | |
Cellular Component | nuclear telomere cap complex | |
Cellular Component | nucleoplasm | |
Cellular Component | perinucleolar chromocenter | |
Cellular Component | shelterin complex | |
Molecular Function | telomeric DNA binding | |
Biological Process | negative regulation of epithelial cell proliferation | |
Biological Process | negative regulation of protein ADP-ribosylation | |
Biological Process | negative regulation of telomere maintenance via telomerase | |
Biological Process | positive regulation of telomere maintenance | |
Biological Process | protein localization to chromosome, telomeric region | |
Biological Process | regulation of telomere maintenance via telomere lengthening | |
Biological Process | telomere assembly | |
Biological Process | telomere capping |
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameTERF1-interacting nuclear factor 2
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9BSI4
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Isoform 1
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Dyskeratosis congenita, autosomal dominant, 3 (DKCA3)
- Note
- DescriptionA 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.
- See alsoMIM:613990
Natural variants in DKCA3
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_043914 | 280 | K>E | in DKCA3; dbSNP:rs121918543 | |
VAR_043915 | 282 | R>H | in DKCA3 and DKCA5; dbSNP:rs121918544 | |
VAR_043916 | 282 | R>S | in DKCA3; dbSNP:rs121918545 |
Dyskeratosis congenita, autosomal dominant, 5 (DKCA5)
- Note
- DescriptionA 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.
- See alsoMIM:268130
Natural variants in DKCA5
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_043915 | 282 | R>H | in DKCA3 and DKCA5; dbSNP:rs121918544 |
Features
Showing features for natural variant, mutagenesis.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_051423 | 43 | in dbSNP:rs35653076 | |||
Sequence: A → T | ||||||
Natural variant | VAR_051424 | 237 | in dbSNP:rs17102313 | |||
Sequence: G → D | ||||||
Natural variant | VAR_051425 | 241 | in dbSNP:rs17102311 | |||
Sequence: P → S | ||||||
Mutagenesis | 258 | Abolishes interaction with TERF1. | ||||
Sequence: F → A | ||||||
Mutagenesis | 262 | Does not effect interaction with TERF1. | ||||
Sequence: P → A | ||||||
Natural variant | VAR_043914 | 280 | in DKCA3; dbSNP:rs121918543 | |||
Sequence: K → E | ||||||
Natural variant | VAR_043915 | 282 | in DKCA3 and DKCA5; dbSNP:rs121918544 | |||
Sequence: R → H | ||||||
Natural variant | VAR_043916 | 282 | in DKCA3; dbSNP:rs121918545 | |||
Sequence: R → S |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 951 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for initiator methionine, modified residue, chain, modified residue (large scale data), cross-link.
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Initiator methionine | 1 | UniProt | Removed | ||||
Sequence: M | |||||||
Modified residue | 2 | UniProt | N-acetylalanine | ||||
Sequence: A | |||||||
Chain | PRO_0000072541 | 2-451 | UniProt | TERF1-interacting nuclear factor 2 | |||
Sequence: ATPLVAGPAALRFAAAASWQVVRGRCVEHFPRVLEFLRSLRAVAPGLVRYRHHERLCMGLKAKVVVELILQGRPWAQVLKALNHHFPESGPIVRDPKATKQDLRKILEAQETFYQQVKQLSEAPVDLASKLQELEQEYGEPFLAAMEKLLFEYLCQLEKALPTPQAQQLQDVLSWMQPGVSITSSLAWRQYGVDMGWLLPECSVTDSVNLAEPMEQNPPQQQRLALHNPLPKAKPGTHLPQGPSSRTHPEPLAGRHFNLAPLGRRRVQSQWASTRGGHKERPTVMLFPFRNLGSPTQVISKPESKEEHAIYTADLAMGTRAASTGKSKSPCQTLGGRALKENPVDLPATEQKENCLDCYMDPLRLSLLPPRARKPVCPPSLCSSVITIGDLVLDSDEEENGQGEGKESLENYQKTKFDTLIPTLCEYLPPSGHGAIPVSSCDCRDSSRPL | |||||||
Modified residue | 295 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 295 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Cross-link | 302 | UniProt | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2) | ||||
Sequence: K | |||||||
Cross-link | 306 | UniProt | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2) | ||||
Sequence: K | |||||||
Modified residue (large scale data) | 330 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Cross-link | 341 | UniProt | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2) | ||||
Sequence: K | |||||||
Cross-link | 353 | UniProt | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2) | ||||
Sequence: K | |||||||
Modified residue (large scale data) | 396 | PRIDE | Phosphoserine | ||||
Sequence: S |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Gene expression databases
Organism-specific databases
Interaction
Subunit
Binary interactions
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, motif.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 229-257 | Disordered | ||||
Sequence: NPLPKAKPGTHLPQGPSSRTHPEPLAGRH | ||||||
Motif | 256-278 | TBM | ||||
Sequence: RHFNLAPLGRRRVQSQWASTRGG | ||||||
Motif | 262-268 | Nuclear localization signal | ||||
Sequence: PLGRRRV |
Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 3 isoforms produced by Alternative splicing. Experimental confirmation may be lacking for some isoforms.
Q9BSI4-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- SynonymsTIN2L
- Length451
- Mass (Da)50,023
- Last updated2001-06-01 v1
- ChecksumE5A7FD11CE523979
Q9BSI4-2
- Name2
- SynonymsTIN2S
- Differences from canonical
- 355-451: Missing
Q9BSI4-3
- Name3
Computationally mapped potential isoform sequences
There are 14 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
H0YMN3 | H0YMN3_HUMAN | TINF2 | 71 | ||
H0YL20 | H0YL20_HUMAN | TINF2 | 140 | ||
H0YLC9 | H0YLC9_HUMAN | TINF2 | 318 | ||
H0YKA6 | H0YKA6_HUMAN | TINF2 | 146 | ||
B4DFJ1 | B4DFJ1_HUMAN | TINF2 | 416 | ||
A0A8V8TQE2 | A0A8V8TQE2_HUMAN | TINF2 | 378 | ||
A0A8V8TQ07 | A0A8V8TQ07_HUMAN | TINF2 | 319 | ||
A0A8V8TNU6 | A0A8V8TNU6_HUMAN | TINF2 | 285 | ||
A0A8V8TP44 | A0A8V8TP44_HUMAN | TINF2 | 105 | ||
A0A8V8TNM3 | A0A8V8TNM3_HUMAN | TINF2 | 138 | ||
A0A8V8TNM8 | A0A8V8TNM8_HUMAN | TINF2 | 177 | ||
A0AAG2TJH9 | A0AAG2TJH9_HUMAN | TINF2 | 290 | ||
A0AAG2TJN2 | A0AAG2TJN2_HUMAN | TINF2 | 85 | ||
A0AAG2TJS5 | A0AAG2TJS5_HUMAN | TINF2 | 146 |
Features
Showing features for sequence conflict, alternative sequence.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 44 | in Ref. 2; BAB14440 | ||||
Sequence: V → I | ||||||
Sequence conflict | 67 | in Ref. 2; BAB14440 | ||||
Sequence: Missing | ||||||
Alternative sequence | VSP_003987 | 134-137 | in isoform 3 | |||
Sequence: ELEQ → VRLV | ||||||
Alternative sequence | VSP_003988 | 138-451 | in isoform 3 | |||
Sequence: Missing | ||||||
Sequence conflict | 302 | in Ref. 1; AAF18439 | ||||
Sequence: K → N | ||||||
Sequence conflict | 323-332 | in Ref. 1; AAF18439 | ||||
Sequence: ASTGKSKSPC → PSNGKYKGPY | ||||||
Alternative sequence | VSP_003989 | 355-451 | in isoform 2 | |||
Sequence: Missing |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF195512 EMBL· GenBank· DDBJ | AAF18439.1 EMBL· GenBank· DDBJ | mRNA | ||
AK023166 EMBL· GenBank· DDBJ | BAB14440.1 EMBL· GenBank· DDBJ | mRNA | ||
BC005030 EMBL· GenBank· DDBJ | AAH05030.1 EMBL· GenBank· DDBJ | mRNA | ||
BC019343 EMBL· GenBank· DDBJ | AAH19343.1 EMBL· GenBank· DDBJ | mRNA | ||
EU851975 EMBL· GenBank· DDBJ | ACF17559.1 EMBL· GenBank· DDBJ | mRNA |