TELO2 (telomere maintenance 2)

Gene

• Entrez ID: 9894
• Gene name: Telomere maintenance 2
• Gene symbol: TELO2
• Synonyms (NCBI Gene): CLK2, TEL2, YHFS
• Disease Acronyms (UniProt): YHFS
• Chromosome: 16
• Chromosome location: 16p13.3
• Summary: This gene encodes a protein that functions as an S-phase checkpoint protein in the cell cycle. The protein may also play a role in DNA repair.[provided by RefSeq, Mar 2009]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs142217951	T>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs144863771	C>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs187225056	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs202020308	G>T	Uncertain-significance, pathogenic-likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs369656775	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs371675497	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs754162070	G>A,T	Likely-pathogenic, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs878853271	A>T	Pathogenic, uncertain-significance	Downstream transcript variant, genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs878853272	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs878853273	G>A	Pathogenic	Splice donor variant
rs1555469732	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024065	hsa-miR-1-3p	Proteomics	18668040
MIRT028628	hsa-miR-30a-5p	Proteomics	18668040
MIRT032037	hsa-miR-16-5p	Proteomics	18668040
MIRT048893	hsa-miR-93-5p	CLASH	23622248
MIRT035855	hsa-miR-1254	CLASH	23622248
MIRT1418086	hsa-miR-1275	CLIP-seq
MIRT1418087	hsa-miR-1283	CLIP-seq
MIRT1418088	hsa-miR-149	CLIP-seq
MIRT1418089	hsa-miR-15a	CLIP-seq
MIRT1418090	hsa-miR-15b	CLIP-seq
MIRT1418091	hsa-miR-16	CLIP-seq
MIRT1418092	hsa-miR-195	CLIP-seq
MIRT1418093	hsa-miR-214	CLIP-seq
MIRT1418094	hsa-miR-3189-3p	CLIP-seq
MIRT1418095	hsa-miR-3194-3p	CLIP-seq
MIRT1418096	hsa-miR-3619-5p	CLIP-seq
MIRT1418097	hsa-miR-3921	CLIP-seq
MIRT1418098	hsa-miR-424	CLIP-seq
MIRT1418099	hsa-miR-4258	CLIP-seq
MIRT1418100	hsa-miR-4283	CLIP-seq
MIRT1418101	hsa-miR-4303	CLIP-seq
MIRT1418102	hsa-miR-4312	CLIP-seq
MIRT1418103	hsa-miR-4468	CLIP-seq
MIRT1418104	hsa-miR-4488	CLIP-seq
MIRT1418105	hsa-miR-4530	CLIP-seq
MIRT1418106	hsa-miR-4645-5p	CLIP-seq
MIRT1418107	hsa-miR-4653-5p	CLIP-seq
MIRT1418108	hsa-miR-4665-5p	CLIP-seq
MIRT1418109	hsa-miR-4673	CLIP-seq
MIRT1418110	hsa-miR-4697-5p	CLIP-seq
MIRT1418111	hsa-miR-4763-5p	CLIP-seq
MIRT1418112	hsa-miR-497	CLIP-seq
MIRT1418113	hsa-miR-503	CLIP-seq
MIRT1418114	hsa-miR-520d-5p	CLIP-seq
MIRT1418115	hsa-miR-524-5p	CLIP-seq
MIRT1418116	hsa-miR-626	CLIP-seq
MIRT1418117	hsa-miR-760	CLIP-seq
MIRT1418118	hsa-miR-761	CLIP-seq
MIRT1418119	hsa-miR-767-3p	CLIP-seq
MIRT1921738	hsa-miR-1202	CLIP-seq
MIRT1921739	hsa-miR-1976	CLIP-seq
MIRT1921740	hsa-miR-3194-5p	CLIP-seq
MIRT1921741	hsa-miR-3972	CLIP-seq
MIRT1921742	hsa-miR-4667-3p	CLIP-seq
MIRT1921743	hsa-miR-4722-3p	CLIP-seq
MIRT1921738	hsa-miR-1202	CLIP-seq
MIRT1921739	hsa-miR-1976	CLIP-seq
MIRT1921740	hsa-miR-3194-5p	CLIP-seq
MIRT1921741	hsa-miR-3972	CLIP-seq
MIRT1921742	hsa-miR-4667-3p	CLIP-seq
MIRT1921743	hsa-miR-4722-3p	CLIP-seq
MIRT1921738	hsa-miR-1202	CLIP-seq
MIRT1921739	hsa-miR-1976	CLIP-seq
MIRT1921740	hsa-miR-3194-5p	CLIP-seq
MIRT1921741	hsa-miR-3972	CLIP-seq
MIRT1921742	hsa-miR-4667-3p	CLIP-seq
MIRT1921743	hsa-miR-4722-3p	CLIP-seq
MIRT2125417	hsa-miR-3064-5p	CLIP-seq
MIRT2125418	hsa-miR-3661	CLIP-seq
MIRT1418101	hsa-miR-4303	CLIP-seq
MIRT2125419	hsa-miR-4321	CLIP-seq
MIRT2125420	hsa-miR-4515	CLIP-seq
MIRT2125421	hsa-miR-4793-3p	CLIP-seq
MIRT2125422	hsa-miR-604	CLIP-seq
MIRT2125423	hsa-miR-631	CLIP-seq
MIRT2125424	hsa-miR-647	CLIP-seq
MIRT2125425	hsa-miR-892b	CLIP-seq
MIRT2347759	hsa-miR-1302	CLIP-seq
MIRT2347760	hsa-miR-199a-5p	CLIP-seq
MIRT2347761	hsa-miR-199b-5p	CLIP-seq
MIRT2347762	hsa-miR-3126-5p	CLIP-seq
MIRT2347763	hsa-miR-335	CLIP-seq
MIRT2347764	hsa-miR-34a	CLIP-seq
MIRT2347765	hsa-miR-34c-5p	CLIP-seq
MIRT2347766	hsa-miR-3649	CLIP-seq
MIRT2125418	hsa-miR-3661	CLIP-seq
MIRT2347767	hsa-miR-371b-3p	CLIP-seq
MIRT1418099	hsa-miR-4258	CLIP-seq
MIRT2347768	hsa-miR-4298	CLIP-seq
MIRT2347769	hsa-miR-4323	CLIP-seq
MIRT2347770	hsa-miR-449a	CLIP-seq
MIRT2347771	hsa-miR-449b	CLIP-seq
MIRT1418105	hsa-miR-4530	CLIP-seq
MIRT2347772	hsa-miR-4659a-5p	CLIP-seq
MIRT2347773	hsa-miR-4659b-5p	CLIP-seq
MIRT2347774	hsa-miR-4758-3p	CLIP-seq
MIRT2347775	hsa-miR-492	CLIP-seq
MIRT1418113	hsa-miR-503	CLIP-seq
MIRT2125423	hsa-miR-631	CLIP-seq
MIRT2347776	hsa-miR-662	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	18160036, 20371770, 20801936, 20810650, 20864032, 23263282, 24036451, 24656813, 32814053
GO:0005634	Component	Nucleus	IDA	20864032
GO:0005737	Component	Cytoplasm	IDA	20864032, 23263282
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	IDA
GO:0007004	Process	Telomere maintenance via telomerase	IBA	21873635
GO:0016020	Component	Membrane	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0019901	Function	Protein kinase binding	IPI	20864032
GO:0031931	Component	TORC1 complex	IDA	23263282
GO:0031932	Component	TORC2 complex	IDA	23263282
GO:0032006	Process	Regulation of TOR signaling	IMP	23263282
GO:0034399	Component	Nuclear periphery	IDA	20864032
GO:0042162	Function	Telomeric DNA binding	IBA	21873635
GO:0044877	Function	Protein-containing complex binding	IDA	20864032
GO:0050821	Process	Protein stabilization	IBA	21873635
GO:0050821	Process	Protein stabilization	IMP	24036451
GO:0051879	Function	Hsp90 protein binding	IBA	21873635
GO:0051879	Function	Hsp90 protein binding	IPI	20864032
GO:0060090	Function	Molecular adaptor activity	IEA
GO:0070209	Component	ASTRA complex	IBA	21873635
GO:0071902	Process	Positive regulation of protein serine/threonine kinase activity	IMP	24036451
GO:1904263	Process	Positive regulation of TORC1 signaling	IMP	24036451
GO:1904515	Process	Positive regulation of TORC2 signaling	IMP	24036451

Other IDs

• MIM: 611140
• HGNC: 29099
• e!Ensembl: ENSG00000100726

Protein

• UniProt ID: Q9Y4R8
• Protein name: Telomere length regulation protein TEL2 homolog (Protein clk-2 homolog) (hCLK2)
• Protein 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 resi
• PDB: 4PSI, 7F4U, 7OLE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10193	Telomere_reg-2	512 → 620	Telomere length regulation protein	Family

• Sequence:

  MEPAPSEVRLAVREAIHALSSSEDGGHIFCTLESLKRYLGEMEPPALPREKEEFASAHFS
  PVLRCLASRLSPAWLELLPHGRLEELWASFFLEGPADQAFLVLMETIEGAAGPSFRLMKM
  ARLLARFLREGRLAVLMEAQCRQQTQPGFILLRETLLGKVVALPDHLGNRLQQENLAEFF
  PQNYFRLLGEEVVRVLQAVVDSLQGGLDSSVSFVSQVLGKACVHGRQQEILGVLVPRLAA
  LTQGSYLHQRVCWRLVEQVPDRAMEAVLTGLVEAALGPEVLSRLLGNLVVKNKKAQFVMT
  QKLLFLQSRLTTPMLQSLLGHLAMDSQRRPLLLQVLKELLETWGSSSAIRHTPLPQQRHV
  SKAVLICLAQLGEPELRDSRDELLASMMAGVKCRLDSSLPPVRRLGMIVAEVVSARIHPE
  GPPLKFQYEEDELSLELLALASPQPAGDGASEAGTSLVPATAEPPAETPAEIVDGGVPQA
  QLAGSDSDLDSDDEFVPYDMSGDRELKSSKAPAYVRDCVEALTTSEDIERWEAALRALEG
  LVYRSPTATREVSVELAKVLLHLEEKTCVVGFAGLRQRALVAVTVTDPAPVADYLTSQFY
  ALNYSLRQRMDILDVLTLAAQELSRPGCLGRTPQPGSPSPNTPCLPEAAVSQPGSAVASD
  WRVVVEERIRSKTQRLSKGGPRQGPAGSPSRFNSVAGHFFFPLLQRFDRPLVTFDLLGED
  QLVLGRLAHTLGALMCLAVNTTVAVAMGKALLEFVWALRFHIDAYVRQGLLSAVSSVLLS
  LPAARLLEDLMDELLEARSWLADVAEKDPDEDCRTLALRALLLLQRLKNRLLPPASP

• Sequence length: 837

Pathways

KEGG:

Fanconi anemia pathway
mTOR signaling pathway

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Developmental delay	Global developmental delay, Profound global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Intellectual disability-neurodevelopmental disorder	TELO2-related intellectual disability-neurodevelopmental disorder	rs202020308, rs754162070
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357

Unknown
Disease term	Disease name	Evidence	References	Source
Rheumatoid arthritis	Rheumatoid arthritis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenoma	Associate	24512911
Brain Diseases	Associate	36724785
Breast Neoplasms	Associate	31759986
Carcinogenesis	Associate	37298208
Colorectal Neoplasms	Stimulate	33416177
Colorectal Neoplasms	Associate	35244540
Depression Postpartum	Associate	36724785
Glioblastoma	Associate	37298208
Glioma	Associate	27329594, 37298208
Growth Disorders	Associate	36724785
Intellectual Disability	Associate	27132593, 36724785
Lymphatic Metastasis	Stimulate	33416177
Movement Disorders	Associate	36724785
Neoplasm Metastasis	Inhibit	33416177
Neoplasms	Stimulate	33416177
Neurologic Manifestations	Associate	27132593
Proctitis	Associate	33008348