CA4 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol CA4
Gene name carbonic anhydrase IV
Chromosome 17
Chromosomal band q23.1
Imprinted Unknown
Genomic reference NG_012050.1
Transcript reference NM_000717.3
Exon/intron information NM_000717.3 exon/intron table
Associated with diseases RP-17
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 31
Unique public DNA variants reported 28
Individuals with public variants 30
Hidden variants 0
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases.
Date created April 29, 2010
Date last updated July 24, 2019
Version CA4:190724

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_000717.3.
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 http://www.LOVD.nl/CA4
External URL Orphanet
HGNC 1375
Entrez Gene 762
PubMed articles CA4
OMIM - Gene 114760
OMIM - Diseases RP-17 (retinitis pigmentosa, type 17 (RP-17))
HGMD CA4
GeneCards CA4
GeneTests CA4


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00004205 17 carbonic anhydrase IV NM_000717.3 NP_000708.1 31


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 © 2010-2019. 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.