TTI2 (TELO2 interacting protein 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
80185
Gene name Gene Name - the full gene name approved by the HGNC.
TELO2 interacting protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TTI2
Synonyms (NCBI Gene) Gene synonyms aliases
C8orf41, MRT39
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p12
Summary Summary of gene provided in NCBI Entrez Gene.
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 t
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs398122366 G>A,C,T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(2)
miRTarBase ID miRNA Experiments Reference
MIRT029659 hsa-miR-26b-5p Microarray 19088304
MIRT045214 hsa-miR-186-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(6)
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus NAS 20810650
GO:0050821 Process Protein stabilization NAS 20810650
GO:0110078 Component TTT Hsp90 cochaperone complex IBA
GO:0110078 Component TTT Hsp90 cochaperone complex IEA
GO:0110078 Component TTT Hsp90 cochaperone complex IPI 20810650
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614426 26262 ENSG00000129696
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q6NXR4
Protein name TELO2-interacting protein 2
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 7OLE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10521 Tti2 199 → 447 Tti2 family Family
Sequence 
MELDSALEAPSQEDSNLSEELSHSAFGQAFSKILHCLARPEARRGNVKDAVLKDLGDLIE
ATEFDRLFEGTGARLRGMPETLGQVAKALEKYAAPSKEEEGGGDGHSEAAEKAAQVGLLF
LKLLGKVETAKNSLVGPAWQTGLHHLAGPVYIFAITHSLEQPWTTPRSREVAREVLTSLL
QVTECGSVAGFLHGENEDEKGRLSVILGLLKPDLYKESWKNNPAIKHVFSWTLQQVTRPW
LSQHLERVLPASLVISDDYQTENKILGVHCLHHIVLNVPAADLLQYNRAQVLYHAISNHL
YTPEHHLIQAVLLCLLDLFPILEKTLHWKGDGARPTTHCDEVLRLILTHMEPEHRLLLRR
TYARNLPAFVNRLGILTVRHLKRLERVIIGYLEVYDGPEEEARLKILETLKLLMQHTWPR
VSCRLVVLLKALLKLICDVARDPNLTPESVKSALLQEATDCLILLDRCSQGRVKGLLAKI
PQSCEDRKVVNYIRKVQQVSEGAPYNGT
Sequence length 508
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome rs398122366, rs398122367 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Microcephaly microcephaly N/A N/A ClinVar
Show/Hide Text Mining Associations (7)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Autosomal Recessive Primary Microcephaly Associate 32061250
Brain Diseases Associate 36724785
Deafness Autosomal Recessive 39 Associate 32061250
Depression Postpartum Associate 36724785
Developmental Disabilities Associate 32061250
Growth Disorders Associate 36724785
Intellectual Disability Associate 32061250, 36724785