The PHLDB2 gene homepage

General information
Gene symbol PHLDB2
Gene name pleckstrin homology-like domain, family B, member 2
Chromosome 3
Chromosomal band q13.13
Imprinted Unknown
Genomic reference NC_000003.11
Transcript reference NM_001134437.1, NM_001134438.1, NM_001134439.1, NM_145753.2, XM_005247870.1, XM_005247871.1, XM_005247872.1, XM_005247873.1, XM_005247874.1, XM_005247877.1, XM_005247878.1, XM_005247879.1, XM_005247881.1, XM_005247882.1, XM_005247883.1, XM_005247884.1, XM_005247885.1, XM_005247886.1, XM_005247887.1
Associated with diseases -
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 233
Unique public DNA variants reported 29
Individuals with public variants 35
Hidden variants 771
Date created October 30, 2013
Date last updated September 28, 2016
Version PHLDB2:160928

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:29573
Entrez Gene 90102
PubMed articles PHLDB2
OMIM - Gene 610298
HGMD PHLDB2
GeneCards PHLDB2
GeneTests PHLDB2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00005790 3 transcript variant 2 NM_001134439.1 NP_001127911.1 229
00018759 3 Manually created transcript. (removed from reference sequence) NM_001134438.1 - 229
00018760 3 Manually created transcript. NM_145753.2 - 219
00009245 3 transcript variant 3 NM_001134437.1 NP_001127909.1 200
00043397 3 transcript variant X15 XM_005247884.1 XP_005247941.1 -
00043398 3 transcript variant X4 XM_005247873.1 - -
00043399 3 transcript variant X3 XM_005247872.1 XP_005247929.1 -
00043400 3 transcript variant X8 XM_005247877.1 XP_005247934.1 -
00043401 3 transcript variant X2 XM_005247871.1 XP_005247928.1 -
00043402 3 transcript variant X14 XM_005247883.1 XP_005247940.1 -
00043403 3 transcript variant X17 XM_005247886.1 XP_005247943.1 -
00043404 3 transcript variant X18 XM_005247887.1 XP_005247944.1 -
00043405 3 transcript variant X12 XM_005247881.1 XP_005247938.1 -
00043406 3 transcript variant X1 XM_005247870.1 - -
00043407 3 transcript variant X5 XM_005247874.1 - -
00043408 3 transcript variant X9 XM_005247878.1 XP_005247935.1 -
00043409 3 transcript variant X16 XM_005247885.1 XP_005247942.1 -
00043410 3 transcript variant X13 XM_005247882.1 XP_005247939.1 -
00043411 3 transcript variant X10 XM_005247879.1 XP_005247936.1 -


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