TELO2 - telomere maintenance 2 Gene

Homo sapiens

Also known as CLK2; TEL2; YHFS

Gene ID: 9894 | Gene type: protein coding

About TELO2

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:1,493,360-1,510,454 (from NCBI)

This gene has 8 transcripts (splice variants), 192 orthologues and is associated with 3 phenotypes. Ubiquitous expression in spleen (RPKM 8.3), skin (RPKM 6.3) and 25 other tissues.

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]

TELO2 Products(2)

mRNA	Protein	Name
NM_001351846.2	NP_001338775.1	telomere length regulation protein TEL2 homolog
NM_016111.4	NP_057195.2	telomere length regulation protein TEL2 homolog

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables Hsp90 protein binding	IPI IPI: Inferred from physical interaction	20864032	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18160036	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	20864032	GOA
enables protein-containing complex binding	IDA IDA: Inferred from direct assay	20864032	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in protein stabilization	IMP IMP: Inferred from mutant phenotype	24036451	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of TTT Hsp90 cochaperone complex	IPI IPI: Inferred from physical interaction	20810650	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	20864032	GOA
located in nucleus	IDA IDA: Inferred from direct assay	20864032	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TELO2 Protein Structure

Telomere_reg-2

0
200
400
600
837 a.a.

Protein Preferred Names

Protein Names

telomere length regulation protein TEL2 homolog

TEL2, telomere maintenance 2, homolog

Related Diseases

Diseases

Alias

You-Hoover-Fong Syndrome

Telo2-Related Intellectual Disability-Neurodevelopmental Disorder

YHFS

Nail-Patella Syndrome

Turner-Kieser Syndrome	Onychoosteodysplasia
Fong Disease	NPS
Hereditary Onycho-Osteodysplasia	Nps1
Hereditary Onychoostedysplasia	Iliac Horn Syndrome
Nail Patella Syndrome	Turner-Kiser Syndrome
Arthro-Onychodysplasia	Nps 1
Osteo-Onychodysplasia	Hereditary Osteo-Onychodysplasia
Osterreicher Syndrome	Pelvic Horn Syndrome
Österreicher-Turner Syndrome	Nps - [Nail-Patella Syndrome]
Hood - [Hereditary Onycho-Osteodysplasia] Syndrome

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Seckel Syndrome

Microcephalic Primordial Dwarfism	Bird-Headed Dwarfism
Harper'S Syndrome	Virchow-Seckel Dwarfism
Nanocephalic Dwarfism	Sckl
Seckel-Type Dwarfism

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14360	TELO2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	TELO2	VGNC	VGNC:35740
Mus musculus	TELO2	MGD	MGI:1918968
Felis catus	TELO2	VGNC	VGNC:66069
Rattus norvegicus	TELO2	RGD	RGD:1305553
Canis familiaris	TELO2	VGNC	VGNC:47245
Macaca mulatta	TELO2	VGNC	VGNC:99609

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