The TPCN2 gene homepage

General information
Gene symbol TPCN2
Gene name two pore segment channel 2
Chromosome 11
Chromosomal band q13.1
Imprinted Unknown
Genomic reference NG_016153.1
Transcript reference NM_139075.3, XM_005273824.1, XM_005273825.1, XM_005273826.1, XM_005273827.1, XM_005273828.1, XM_005273830.1, XM_005273831.1, XM_005273832.1
Associated with diseases SHEP-10
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 362
Unique public DNA variants reported 31
Individuals with public variants 35
Hidden variants 265
Date created November 30, -0001
Date last updated September 28, 2016
Version TPCN2:160928

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:20820
Entrez Gene 219931
PubMed articles TPCN2
OMIM - Gene 612163
OMIM - Diseases SHEP-10 (pigmentation, skin/hair/eye, variation in, type 10 (SHEP-10))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00014813 11 two pore segment channel 2 NM_139075.3 NP_620714.2 362
00034470 11 transcript variant X1 XM_005273824.1 XP_005273881.1 -
00034471 11 transcript variant X7 XM_005273830.1 XP_005273887.1 -
00034472 11 transcript variant X9 XM_005273832.1 XP_005273889.1 -
00034473 11 transcript variant X4 XM_005273827.1 XP_005273884.1 -
00034474 11 transcript variant X5 XM_005273828.1 XP_005273885.1 -
00034475 11 transcript variant X3 XM_005273826.1 XP_005273883.1 -
00034476 11 transcript variant X8 XM_005273831.1 XP_005273888.1 -
00034477 11 transcript variant X2 XM_005273825.1 XP_005273882.1 -