1. Gene
  2. TTI2 - TELO2 interacting protein 2 Gene

TTI2 - TELO2 interacting protein 2 Gene

Homo sapiens

Also known as MRT39; C8orf41

Gene ID: 80185 | Gene type: protein coding

About TTI2

Cytogenetic location: 8p12 Genomic coordinates (GRCh38): 8:33,498,722-33,513,135 (from NCBI)

This gene has 6 transcripts (splice variants), 193 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 6.8), lymph node (RPKM 5.5) and 25 other tissues.

Summary

This gene encodes a regulator of the DNA damage response. The protein is a component of the Triple T complex (TTT) which also includes telomere length regulation protein and TELO2 interacting protein 1. The TTT complex is involved in cellular resistance to DNA damage stresses and may act as a regulator of phosphoinositide-3-kinase-related protein kinase (PIKK) abundance. [provided by RefSeq, May 2013]

TTI2 Products(4)

mRNA Protein Name
NM_001102401.4 NP_001095871.1 TELO2-interacting protein 2 isoform 1
NM_001265581.2 NP_001252510.1 TELO2-interacting protein 2 isoform 1
NM_001330505.3 NP_001317434.1 TELO2-interacting protein 2 isoform 2
NM_025115.5 NP_079391.2 TELO2-interacting protein 2 isoform 1

TTI2 Protein Structure

Tti2

Tti2: Tti2 family (150 - 400)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 508 a.a.
Protein Preferred Names Protein Names

TELO2-interacting protein 2

Tel2 interacting protein 2 homolog

Related Diseases

Diseases Alias
Intellectual Developmental Disorder, Autosomal Recessive 39

Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome

MRT39

Mental Retardation, Autosomal Recessive 39

Autosomal Recessive Intellectual Developmental Disorder 39

Mental Retardation, Autosomal Recessive, Type 39

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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
Felis catus TTI2 VGNC VGNC:66682
Bos taurus TTI2 VGNC VGNC:36486
Macaca mulatta TTI2 VGNC VGNC:79597
Rattus norvegicus TTI2 RGD RGD:1310414
Mus musculus TTI2 MGD MGI:2384576
Canis familiaris TTI2 VGNC VGNC:47970