Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9894
Gene name	Telomere maintenance 2
Gene symbol	TELO2
Synonyms (NCBI Gene)	CLK2TEL2YHFS
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]

Show/Hide all (11)

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

Show/Hide all (90)

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

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000781	Component	Chromosome, telomeric region	IEA
GO:0005515	Function	Protein binding	IPI	18160036, 20371770, 20801936, 20810650, 20864032, 23263282, 24036451, 24656813, 32814053
GO:0005634	Component	Nucleus	IDA	20864032
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	20810650
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IDA	20864032, 23263282
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0016020	Component	Membrane	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0019901	Function	Protein kinase binding	IPI	20864032
GO:0042162	Function	Telomeric DNA binding	IBA
GO:0044877	Function	Protein-containing complex binding	IDA	20864032
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0050821	Process	Protein stabilization	IEA
GO:0050821	Process	Protein stabilization	IMP	24036451
GO:0050821	Process	Protein stabilization	NAS	20810650
GO:0051083	Process	'de novo' cotranslational protein folding	IBA
GO:0051879	Function	Hsp90 protein binding	IBA
GO:0051879	Function	Hsp90 protein binding	IPI	20864032
GO:0060090	Function	Molecular adaptor activity	IEA
GO:0110078	Component	TTT Hsp90 cochaperone complex	IPI	20810650
GO:2000003	Process	Positive regulation of DNA damage checkpoint	NAS	20810650

MIM	HGNC	e!Ensembl
611140	29099	ENSG00000100726

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

Interactions

View interactions

	KEGG
	Fanconi anemia pathway mTOR signaling pathway

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
TELO2-related disorder	Likely pathogenic; Pathogenic	rs202020308	RCV004757979
TELO2-related intellectual disability-neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs779227414, rs766665093, rs202020308, rs754162070	RCV001783863 RCV002246769 RCV000225284 RCV000225121

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs878853272, rs878853273	-
Acute myeloid leukemia	Benign	rs375484274	RCV005921177
Gastric cancer	Likely benign	rs199679624	RCV005931377
Lung cancer	Benign	rs149959107	RCV005907384
Malignant tumor of esophagus	Benign	rs149959107	RCV005907383
Microcephaly	Uncertain significance	rs1207905439	RCV001252903
Sarcoma	Likely benign	rs200124093	RCV005926546

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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

TELO2 (telomere maintenance 2)