The SLC4A11 gene homepage

General information
Gene symbol SLC4A11
Gene name solute carrier family 4, sodium borate transporter, member 11
Chromosome 20
Chromosomal band p13
Imprinted Unknown
Genomic reference NG_017072.1
Transcript reference NM_001174089.1, NM_001174090.1, NM_032034.3
Associated with diseases FECD-4, dystrophy, corneal, and perceptive deafness, dystrophy, corneal, endothelial, type 2
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 322
Unique public DNA variants reported 37
Individuals with public variants 35
Hidden variants 22
Date created November 30, -0001
Date last updated September 28, 2016
Version SLC4A11:160928

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:16438
Entrez Gene 83959
PubMed articles SLC4A11
OMIM - Gene 610206
OMIM - Diseases FECD-4 (dystrophy, corneal, Fuchs endothelial, type 4 (FECD-4))
dystrophy, corneal, and perceptive deafness
dystrophy, corneal, endothelial, type 2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00014223 20 transcript variant 2 NM_032034.3 NP_114423.1 322
00014222 20 transcript variant 1 NM_001174090.1 NP_001167561.1 302
00014221 20 transcript variant 3 NM_001174089.1 NP_001167560.1 267