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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15225	TTI2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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