The STAT5B gene homepage

A Growth Genetics Consortium gene variant database.
General information
Gene symbol STAT5B
Gene name signal transducer and activator of transcription 5B
Chromosome 17
Chromosomal band q11.2
Imprinted Unknown
Genomic reference NG_007271.1
Transcript reference NM_012448.3
Exon/intron information NM_012448.3 exon/intron table
Associated with diseases PML, growth hormone insensitivity with immunodeficiency
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) Vivian Hwa, Mauno Vihinen, and Ron Rosenfeld
Total number of public variants reported 101
Unique public DNA variants reported 86
Individuals with public variants 11
Hidden variants 2
Download all this gene's data Download all data
Notes We gratefully acknowledge the efforts of Gerard Schaafsma, curating this database until 2021.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden (Nederland) with the help of the Growth Genetics Consortium.
Date created June 13, 2008
Date last updated February 26, 2024
Version STAT5B:240226

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_012448.3.
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
Homepage URL https://www.LOVD.nl/STAT5B
External URL STAT5Bbase
HGNC 11367
Entrez Gene 6777
PubMed articles STAT5B
OMIM - Gene 604260
OMIM - Diseases PML (leukemia, acute promyelocytic, somatic (PML))
growth hormone insensitivity with immunodeficiency
HGMD STAT5B
GeneCards STAT5B
GeneTests STAT5B
Orphanet STAT5B


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00020441 17 signal transducer and activator of transcription 5B NM_012448.3 NP_036580.2 101


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2008-2024. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.