The SH2B3 gene homepage

General information
Gene symbol SH2B3
Gene name SH2B adaptor protein 3
Chromosome 12
Chromosomal band q24.12
Imprinted Unknown
Genomic reference NG_021216.1
Transcript reference NM_005475.2
Associated with diseases ECYT1, MMM, THCYT1
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 54
Unique public DNA variants reported 46
Individuals with public variants 0
Hidden variants 2
Date created May 03, 2013
Date last updated November 27, 2023
Version SH2B3:231127

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 29605
Entrez Gene 10019
PubMed articles SH2B3
OMIM - Gene 605093
OMIM - Diseases ECYT1 (erythrocytosis, familial, type 1 (ECYT-1))
MMM (myelofibrosis, with myeloid metaplasia, somatic)
THCYT1 (thrombocythemia, type 1)
Orphanet SH2B3

Active transcripts




NCBI ID     

NCBI Protein ID     

00018824 12 SH2B adaptor protein 3 NM_005475.2 NP_005466.1 54

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