TELO2 - telomere maintenance 2 Gene

Also Known as CLK2; TEL2; YHFS

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9894

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
Molecular Function GO Annotation Evidence References 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 References Source
involved in protein stabilization IMP
IMP: Inferred from mutant phenotype
24036451 GOA
Cellular Component GO Annotation Evidence References 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

Telomere_reg-2: Telomere length regulation protein (512 - 620)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 837 a.a.
Protein Preferred Names Protein Names

telomere length regulation protein TEL2 homolog

  • TEL2, telomere maintenance 2, homolog

TELO2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
TELO2 Q9Y4R8 TTI1 Homo sapiens O43156
GMS
20810650
Intra
TELO2 Q9Y4R8 TTI1 Homo sapiens O43156
TAP
20801936
Intra
TELO2 Q9Y4R8 TTI1 Homo sapiens O43156 20810650
Intra
TELO2 Q9Y4R8 PIH1D1 Homo sapiens Q9NWS0 24656813
Intra
TELO2 Q9Y4R8 PIH1D1 Homo sapiens Q9NWS0 24656813
Intra
TELO2 Q9Y4R8 PIH1D1 Homo sapiens Q9NWS0 24656813
Intra
TELO2 Q9Y4R8 PIH1D1 Homo sapiens Q9NWS0
ITC
24656813
Intra
TELO2 Q9Y4R8 ATM Homo sapiens Q13315
TAP
20801936
Intra
TELO2 Q9Y4R8 ATM Homo sapiens Q13315 18160036
Intra
TELO2 Q9Y4R8 ATM Homo sapiens Q13315 18160036
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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
Others TELO2 NCBI