TELO2 (telomere maintenance 2)

Gene

• Entrez ID: 9894
• Gene name: Telomere maintenance 2
• Gene symbol: TELO2
• Synonyms (NCBI Gene): CLK2, TEL2, 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: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

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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
TELO2-related disorder	Likely pathogenic; Pathogenic	rs202020308	RCV004757979	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TELO2-related intellectual disability-neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs779227414, rs766665093, rs202020308, rs754162070	RCV001783863 RCV002246769 RCV000225284 RCV000225121	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
YOU-HOOVER-FONG SYNDROME	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
22q13.3 Deletion Syndrome	22q13.3 deletion syndrome	BEFREE	29985556		★☆☆☆☆ Found in Text Mining only
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	16371011	Associate	★☆☆☆☆ Found in Text Mining only
Apraxia oculomotor Cogan type	Apraxia	Pubtator	38003592	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	38003592	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	29985556		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	36724785	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25670169		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29789342, 31759986	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	37298208	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34420511	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	38003592	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33416177, 35860803	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35244540	Associate	★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depression Postpartum	Major depressive disorder	Pubtator	36724785	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	27733761		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	27733761		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29575149		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	23504502	Associate	★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	18995830		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	18995830		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	27050366		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	37298208	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	27050366		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	27329594, 37298208	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	36724785	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	11285245, 27132593		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	27132593, 36724785	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	15342392, 16234363		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	33721432	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	33416177	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	15743832		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25670169		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30813315		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23504502		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15743832, 29209046		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	25670169		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	11285245		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Movement Disorders	Movement disorder	Pubtator	36724785	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	23263282		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	16234363		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	31323273		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	26335051, 30253797		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27050366		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	27733761		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	15743832		★☆☆☆☆ Found in Text Mining only
Profound global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30813315		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37143720	Associate	★☆☆☆☆ Found in Text Mining only
Seckel syndrome	Seckel Syndrome	BEFREE	28944240		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	23504502		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23504502		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	23504502	Associate	★☆☆☆☆ Found in Text Mining only
TELO2-related intellectual disability-neurodevelopmental disorder	Intellectual Disability-Neurodevelopmental Disorder	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28991472, 29866747, 30998356		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	38299148	Associate	★☆☆☆☆ Found in Text Mining only
YOU-HOOVER-FONG SYNDROME	You-Hoover-Fong Syndrome	UNIPROT_DG	27132593		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
YOU-HOOVER-FONG SYNDROME	You-Hoover-Fong Syndrome	ORPHANET_DG	27132593		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
YOU-HOOVER-FONG SYNDROME	You-Hoover-Fong Syndrome	GENOMICS_ENGLAND_DG	28944240		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
YOU-HOOVER-FONG SYNDROME	You-Hoover-Fong Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
YOU-HOOVER-FONG SYNDROME	You-Hoover-Fong Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations