The SH3PXD2B gene homepage

General information
Gene symbol SH3PXD2B
Gene name SH3 and PX domains 2B
Chromosome 5
Chromosomal band q35.2
Imprinted Unknown
Genomic reference NG_027746.1
Transcript reference NM_001017995.2
Associated with diseases FTHS, ID
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 53
Unique public DNA variants reported 45
Individuals with public variants 2
Hidden variants 10
Date created May 03, 2013
Date last updated July 07, 2023
Version SH3PXD2B:230707

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
HGNC 29242
Entrez Gene 285590
PubMed articles SH3PXD2B
OMIM - Gene 613293
OMIM - Diseases FTHS (Frank-ter Haar syndrome (FTHS))
Orphanet SH3PXD2B

Active transcripts




NCBI ID     

NCBI Protein ID     

00018855 5 SH3 and PX domains 2B NM_001017995.2 NP_001017995.1 53

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