Gene Page: TINF2

Summary ?
GeneID26277
SymbolTINF2
SynonymsDKCA3|TIN2
DescriptionTERF1 (TRF1)-interacting nuclear factor 2
ReferenceMIM:604319|HGNC:HGNC:11824|Ensembl:ENSG00000092330|HPRD:16056|Vega:OTTHUMG00000171849
Gene typeprotein-coding
Map location14q12
Pascal p-value0.164
Sherlock p-value0.334
TADA p-value0.009
Fetal beta0.327
eGeneMyers' cis & trans
SupportCompositeSet

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DNM:Fromer_2014Whole Exome Sequencing analysisThis study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
GSMA_IGenome scan meta-analysisPsr: 0.047 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
TINF2chr1424709311ACNM_001099274
NM_012461		p.394L>V
.		missense
3-UTR		SchizophreniaDNM:Fromer_2014

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs1111763chr1425591536TINF2262770.09cis

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0003677DNA bindingTAS10581025 
GO:0005515protein bindingIPI12768206 
GO:0042162telomeric DNA bindingIDA12768206 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0007004telomere maintenance via telomeraseTAS10581025 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0000781chromosome, telomeric regionTAS10581025 
GO:0005634nucleusIEA-
GO:0005654nucleoplasmEXP16166375 
GO:0005694chromosomeIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
PID TELOMERASE PATHWAY 6848All SZGR 2.0 genes in this pathway
REACTOME MEIOSIS 11681All SZGR 2.0 genes in this pathway
REACTOME CELL CYCLE 421253All SZGR 2.0 genes in this pathway
REACTOME CHROMOSOME MAINTENANCE 12280All SZGR 2.0 genes in this pathway
REACTOME MEIOTIC SYNAPSIS 7357All SZGR 2.0 genes in this pathway
REACTOME PACKAGING OF TELOMERE ENDS 4840All SZGR 2.0 genes in this pathway
REACTOME TELOMERE MAINTENANCE 7557All SZGR 2.0 genes in this pathway
PARENT MTOR SIGNALING UP 567375All SZGR 2.0 genes in this pathway
JAZAG TGFB1 SIGNALING UP 10869All SZGR 2.0 genes in this pathway
RICKMAN TUMOR DIFFERENTIATED WELL VS POORLY DN 382224All SZGR 2.0 genes in this pathway
KAUFFMANN DNA REPAIR GENES 230137All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS STEM CELL LONG TERM 302191All SZGR 2.0 genes in this pathway
HU GENOTOXIN ACTION DIRECT VS INDIRECT 24HR 5538All SZGR 2.0 genes in this pathway
BILD MYC ONCOGENIC SIGNATURE 206117All SZGR 2.0 genes in this pathway
MARSON BOUND BY E2F4 UNSTIMULATED 728415All SZGR 2.0 genes in this pathway
ACEVEDO LIVER CANCER UP 973570All SZGR 2.0 genes in this pathway
ACEVEDO LIVER TUMOR VS NORMAL ADJACENT TISSUE UP 863514All SZGR 2.0 genes in this pathway
CONRAD STEM CELL 3927All SZGR 2.0 genes in this pathway
JOHNSTONE PARVB TARGETS 3 UP 430288All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE EARLY LATE 317190All SZGR 2.0 genes in this pathway
ZWANG TRANSIENTLY UP BY 2ND EGF PULSE ONLY 1725838All SZGR 2.0 genes in this pathway