The KPTN gene homepage

General information
Gene symbol KPTN
Gene name kaptin (actin binding protein)
Chromosome 19
Chromosomal band q13.3
Imprinted Unknown
Genomic reference NC_000019.9
Transcript reference NM_007059.2, NR_038456.1
Associated with diseases ID, MRT-41
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 46
Unique public DNA variants reported 12
Individuals with public variants 31
Hidden variants 1
Date created November 30, -0001
Date last updated September 23, 2016
Version KPTN:160923

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:6404
Entrez Gene 11133
PubMed articles KPTN
OMIM - Gene 615620
OMIM - Diseases MRT-41 (mental retardation, autosomal recessive, type 41 (MRT-41))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00028515 19 kaptin (actin binding protein) NM_007059.2 NP_008990.2 46
00031779 19 Manually created transcript (removed from reference sequence) NR_038456.1 - -