The SEMA4A gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol SEMA4A
Gene name sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
Chromosome 1
Chromosomal band q22
Imprinted Unknown
Genomic reference NG_027683.1
Transcript reference NM_001193301.1, NM_022367.3
Exon/intron information NM_001193301.1 exon/intron table, NM_022367.3 exon/intron table
Associated with diseases CORD10, RP35
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 120
Unique public DNA variants reported 74
Individuals with public variants 469
Hidden variants 1
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 European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created February 13, 2012
Date last updated February 26, 2024
Version SEMA4A:240226

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_001193301.1, NM_022367.3.
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/SEMA4A
HGNC 10729
Entrez Gene 64218
PubMed articles SEMA4A
OMIM - Gene 607292
OMIM - Diseases CORD10 (dystrophy, cone-rod, type 10 (CORD-10))
RP35 (retinitis pigmentosa, type 35 (RP35))
HGMD SEMA4A
GeneCards SEMA4A
GeneTests SEMA4A
Orphanet SEMA4A


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024021 1 transcript variant 3 NM_001193301.1 NP_001180230.1 115
00025895 1 transcript variant 1 NM_022367.3 NP_071762.2 70


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The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 2012-2024. 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.

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