The TSPAN12 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol TSPAN12
Gene name tetraspanin 12
Chromosome 7
Chromosomal band q31.31
Imprinted Unknown
Genomic reference NG_023203.1
Transcript reference NM_012338.3
Exon/intron information NM_012338.3 exon/intron table
Associated with diseases EVR-5, EVR
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Carmel Toomes
Total number of public variants reported 84
Unique public DNA variants reported 60
Individuals with public variants 131
Hidden variants 14
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created July 16, 2012
Date last updated March 18, 2021
Version TSPAN12:210318

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_012338.3.
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/TSPAN12
HGNC 21641
Entrez Gene 23554
PubMed articles TSPAN12
OMIM - Gene 613138
OMIM - Diseases EVR-5 (vitreoretinopathy, exudative, type 5 (EVR-5))
HGMD TSPAN12
GeneCards TSPAN12
GeneTests TSPAN12
Orphanet TSPAN12


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00021965 7 tetraspanin 12 NM_012338.3 NP_036470.1 84


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2012-2021. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.