The TTC21B gene homepage

General information
Gene symbol TTC21B
Gene name tetratricopeptide repeat domain 21B
Chromosome 2
Chromosomal band q24.3
Imprinted Unknown
Genomic reference NG_030345.1
Transcript reference NM_024753.4
Exon/intron information NM_024753.4 exon/intron table
Associated with diseases NPHP1, NPHP12, SRTD, SRTD4
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 155
Unique public DNA variants reported 112
Individuals with public variants 44
Hidden variants 7
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 03, 2013
Date last updated January 11, 2023
Version TTC21B:230111

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_024753.4.
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
Homepage URL https://www.LOVD.nl/TTC21B
HGNC 25660
Entrez Gene 79809
PubMed articles TTC21B
OMIM - Gene 612014
OMIM - Diseases NPHP1 (nephronophthisis, type 1)
NPHP12 (JBTS11)
SRTD4 (ATD4)
HGMD TTC21B
GeneCards TTC21B
GeneTests TTC21B
Orphanet TTC21B


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00022027 2 tetratricopeptide repeat domain 21B NM_024753.4 NP_079029.3 155


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