TELO2
entrez
9894
canonical
uniprot
Q9Y4R8
canonical
ensembl
ENSG00000100726
resolver
ensp
ENSP00000262319
resolver
ensp
ENSP00000559794
resolver
ensp
ENSP00000559795
resolver
ensp
ENSP00000559797
resolver
ensp
ENSP00000559798
resolver
ensp
ENSP00000559801
resolver
ensp
ENSP00000559803
resolver
ensp
ENSP00000584591
resolver
ensp
ENSP00000584594
resolver
ensp
ENSP00000632604
resolver
ensp
ENSP00000632606
resolver
ensp
ENSP00000632609
resolver
ensp
ENSP00000632610
resolver
ensp
ENSP00000703613
resolver
ensp
ENSP00000735164
resolver
ensp
ENSP00000779938
resolver
ensp
ENSP00000785870
resolver
enst
ENST00000262319
resolver
enst
ENST00000889735
resolver
enst
ENST00000889736
resolver
enst
ENST00000889738
resolver
enst
ENST00000889739
resolver
enst
ENST00000889742
resolver
enst
ENST00000889744
resolver
enst
ENST00000914532
resolver
enst
ENST00000914535
resolver
enst
ENST00000962545
resolver
enst
ENST00000962547
resolver
enst
ENST00000962550
resolver
enst
ENST00000962551
resolver
genesymbol
TELO2
resolver
genesymbol_syn
KIAA0683
resolver
hgnc
HGNC:29099
resolver
uniprot
B4DXS2
resolver
uniprot
D3DU73
resolver
uniprot
O75168
resolver
uniprot
Q7LDV4
resolver
uniprot
Q9BR21
resolver
uniprot_entry
B4DXS2_HUMAN
resolver
uniprot_entry
TELO2_HUMAN
resolver
uniprot_sec
D3DU73
resolver
uniprot_sec
O75168
resolver
uniprot_sec
Q7LDV4
resolver
uniprot_sec
Q9BR21
resolver
amino_acid_sequence
MEPAPSEVRLAVREAIHALSSSEDGGHIFCTLESLKRYLGEMEPPALPREKEEFASAHFSPVLRCLASRLSPAWLELLPHGRLEELWASFFLEGPADQAFLVLMETIEGAAGPSFRLMKMARLLARFLREGRLAVLMEAQCRQQTQPGFILLRETLLGKVVALPDHLGNRLQQENLAEFFPQNYFRLLGEEVVRVLQAVVDSLQGGLDSSVSFVSQVLGKACVHGRQQEILGVLVPRLAALTQGSYLHQRVCWRLVEQVPDRAMEAVLTGLVEAALGPEVLSRLLGNLVVKNKKAQFVMTQKLLFLQSRLTTPMLQSLLGHLAMDSQRRPLLLQVLKELLETWGSSSAIRHTPLPQQRHVSKAVLICLAQLGEPELRDSRDELLASMMAGVKCRLDSSLPPVRRLGMIVAEVVSARIHPEGPPLKFQYEEDELSLELLALASPQPAGDGASEAGTSLVPATAEPPAETPAEIVDGGVPQAQLAGSDSDLDSDDEFVPYDMSGDRELKSSKAPAYVRDCVEALTTSEDIERWEAALRALEGLVYRSPTATREVSVELAKVLLHLEEKTCVVGFAGLRQRALVAVTVTDPAPVADYLTSQFYALNYSLRQRMDILDVLTLAAQELSRPGCLGRTPQPGSPSPNTPCLPEAAVSQPGSAVASDWRVVVEERIRSKTQRLSKGGPRQGPAGSPSRFNSVAGHFFFPLLQRFDRPLVTFDLLGEDQLVLGRLAHTLGALMCLAVNTTVAVAMGKALLEFVWALRFHIDAYVRQGLLSAVSSVLLSLPAARLLEDLMDELLEARSWLADVAEKDPDEDCRTLALRALLLLQRLKNRLLPPASP
uniprot
proteins
disease_involvement
DISEASE: You-Hoover-Fong syndrome (YHFS) [MIM:616954]: A syndrome characterized by severe global developmental delay, intellectual disability, dysmorphic facial features, microcephaly, abnormal movements, congenital heart disease comprising developmental abnormalities of the great vessels, and abnormal auditory and visual function. The transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:27132593}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Regulator of the DNA damage response (DDR). Part of the TTT complex that is required to stabilize protein levels of the phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins. The TTT complex is involved in the cellular resistance to DNA damage stresses, like ionizing radiation (IR), ultraviolet (UV) and mitomycin C (MMC). Together with the TTT complex and HSP90 may participate in the proper folding of newly synthesized PIKKs. Promotes assembly, stabilizes and maintains the activity of mTORC1 and mTORC2 complexes, which regulate cell growth and survival in response to nutrient and hormonal signals. May be involved in telomere length regulation. {ECO:0000269|PubMed:12670948, ECO:0000269|PubMed:20810650}.
uniprot
proteins
mass_dalton
91747
uniprot
proteins
mutagenesis
MUTAGEN 485; /note="S->A: Abolishes phosphorylation by CK2 in response to growth factor deprivation and subsequent ubiquitination and degradation."; /evidence="ECO:0000269|PubMed:23263282
uniprot
proteins
post_translational_modification
PTM: Hydroxylation by PHD3 is required for a proper interaction with ATR, and activation of the ATR/CHK1/p53 pathway following DNA damage. {ECO:0000269|PubMed:22797300}.; PTM: Phosphorylated at Ser-485 by CK2 following growth factor deprivation, leading to its subsequent ubiquitination by the SCF(FBXO9) complex. Phosphorylation by CK2 only takes place when TELO2 is bound to mTORC1, not mTORC2; leading to selective ubiquitination of mTORC1-associated protein. {ECO:0000269|PubMed:23263282}.; PTM: Ubiquitinated by the SCF(FBXO9) complex following phosphorylation by CK2 in response to growth factor deprivation, leading to its degradation by the proteasome. Only mTORC1-associated protein is ubiquitinated and degraded, leading to selective inactivation of mTORC1 to restrain cell growth and protein translation, while mTORC2 is activated due to the relief of feedback inhibition by mTORC1. {ECO:0000269|PubMed:23263282}.
uniprot
proteins
protein_family
TEL2 family
uniprot
proteins
pubmed
11157797
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
12670948
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20427287
uniprot
proteins
pubmed
20801936
uniprot
proteins
pubmed
20810650
uniprot
proteins
pubmed
20864032
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22797300
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23263282
uniprot
proteins
pubmed
24656813
uniprot
proteins
pubmed
27132593
uniprot
proteins
pubmed
9734811
uniprot
proteins
sequence_length
837
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm. Membrane. Nucleus. Chromosome, telomere {ECO:0000305}.
uniprot
proteins