The TINF2 gene homepage

General information
Gene symbol TINF2
Gene name TERF1 (TRF1)-interacting nuclear factor 2
Chromosome 14
Chromosomal band q12
Imprinted Unknown
Genomic reference NG_016650.1
Transcript reference NM_001099274.1, NM_012461.2, XM_005267528.1, XM_005267529.1
Associated with diseases DKCA-3, Revesz
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 22
Unique public DNA variants reported 14
Individuals with public variants 21
Hidden variants 8
Date created November 30, -0001
Date last updated September 28, 2016
Version TINF2:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:11824
Entrez Gene 26277
PubMed articles TINF2
OMIM - Gene 604319
OMIM - Diseases DKCA-3 (dyskeratosis congenita, autosomal dominant, type 3 (DKCA-3))
Revesz (Revesz syndrome)


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00022985 14 transcript variant 1 NM_001099274.1 NP_001092744.1 22
00022986 14 transcript variant 2 NM_012461.2 NP_036593.2 22
00036266 14 transcript variant X1 XM_005267528.1 XP_005267585.1 -
00036269 14 transcript variant X2 XM_005267529.1 XP_005267586.1 -