TINF2
entrez
26277
canonical
uniprot
Q9BSI4
canonical
ensembl
ENSG00000092330
resolver
ensembl
ENSG00000284915
resolver
ensp
ENSP00000267415
resolver
ensp
ENSP00000382350
resolver
ensp
ENSP00000494065
resolver
ensp
ENSP00000495055
resolver
ensp
ENSP00000665607
resolver
enst
ENST00000644449
resolver
enst
ENST00000646753
resolver
genesymbol
TINF2
resolver
genesymbol_syn
TIN2
resolver
hgnc
HGNC:11824
resolver
uniprot
A0A2R8YE55
resolver
uniprot
B3W5Q7
resolver
uniprot
B4DFJ1
resolver
uniprot
Q9H904
resolver
uniprot
Q9UHC2
resolver
uniprot_entry
A0A2R8YE55_HUMAN
resolver
uniprot_entry
B4DFJ1_HUMAN
resolver
uniprot_entry
TINF2_HUMAN
resolver
uniprot_sec
B3W5Q7
resolver
uniprot_sec
Q9H904
resolver
uniprot_sec
Q9UHC2
resolver
amino_acid_sequence
MATPLVAGPAALRFAAAASWQVVRGRCVEHFPRVLEFLRSLRAVAPGLVRYRHHERLCMGLKAKVVVELILQGRPWAQVLKALNHHFPESGPIVRDPKATKQDLRKILEAQETFYQQVKQLSEAPVDLASKLQELEQEYGEPFLAAMEKLLFEYLCQLEKALPTPQAQQLQDVLSWMQPGVSITSSLAWRQYGVDMGWLLPECSVTDSVNLAEPMEQNPPQQQRLALHNPLPKAKPGTHLPQGPSSRTHPEPLAGRHFNLAPLGRRRVQSQWASTRGGHKERPTVMLFPFRNLGSPTQVISKPESKEEHAIYTADLAMGTRAASTGKSKSPCQTLGGRALKENPVDLPATEQKENCLDCYMDPLRLSLLPPRARKPVCPPSLCSSVITIGDLVLDSDEEENGQGEGKESLENYQKTKFDTLIPTLCEYLPPSGHGAIPVSSCDCRDSSRPL
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:18252230}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:18252230}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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:0000269|PubMed:16166375, ECO:0000269|PubMed:16880378}.
uniprot
proteins
mass_dalton
50023
uniprot
proteins
mutagenesis
MUTAGEN 258; /note="F->A: Abolishes interaction with TERF1."; /evidence="ECO:0000269|PubMed:18202258"; MUTAGEN 262; /note="P->A: Does not effect interaction with TERF1."; /evidence="ECO:0000269|PubMed:18202258
uniprot
proteins
pubmed
10581025
uniprot
proteins
pubmed
12768206
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15231715
uniprot
proteins
pubmed
15316005
uniprot
proteins
pubmed
15383534
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16166375
uniprot
proteins
pubmed
16880378
uniprot
proteins
pubmed
18202258
uniprot
proteins
pubmed
18252230
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19229133
uniprot
proteins
pubmed
19279399
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
28112733
uniprot
proteins
sequence_length
451
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19279399}. Chromosome, telomere {ECO:0000269|PubMed:19279399}. Note=Associated with telomeres.; SUBCELLULAR LOCATION: [Isoform 1]: Nucleus matrix {ECO:0000269|PubMed:19229133}.
uniprot
proteins