STAT5B signal transducer and activator of transcription 5B [Homo sapiens (human)] - Gene

Summary

Official Symbol: STAT5Bprovided by HGNC
Official Full Name: signal transducer and activator of transcription 5Bprovided by HGNC
Primary source: HGNC:HGNC:11367
See related: Ensembl:ENSG00000173757 MIM:604260; AllianceGenome:HGNC:11367
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: STAT5; GHISID2
Summary: The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein mediates the signal transduction triggered by various cell ligands, such as IL2, IL4, CSF1, and different growth hormones. It has been shown to be involved in diverse biological processes, such as TCR signaling, apoptosis, adult mammary gland development, and sexual dimorphism of liver gene expression. This gene was found to fuse to retinoic acid receptor-alpha (RARA) gene in a small subset of acute promyelocytic leukemias (APLL). The dysregulation of the signaling pathways mediated by this protein may be the cause of the APLL. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in fat (RPKM 26.3), ovary (RPKM 25.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.2

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (42199177..42288370, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (43055661..43144521, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (40351195..40428409, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PAK1 overexpression promotes myxofibrosarcoma angiogenesis through STAT5B-mediated CSF2 transactivation: clinical and therapeutic relevance of amplification and nuclear entry.
Title: PAK1 overexpression promotes myxofibrosarcoma angiogenesis through STAT5B-mediated CSF2 transactivation: clinical and therapeutic relevance of amplification and nuclear entry.
Identification of STAT5B as a biomarker associated with prognosis and immune infiltration in breast cancer.
Title: Identification of STAT5B as a biomarker associated with prognosis and immune infiltration in breast cancer.
STAT5b: A master regulator of key biological pathways.
Title: STAT5b: A master regulator of key biological pathways.
STAT5B restrains human B-cell differentiation to maintain humoral immune homeostasis.
Title: STAT5B restrains human B-cell differentiation to maintain humoral immune homeostasis.
Identification of novel STAT5B mutations and characterization of TCRbeta signatures in CD4+ T-cell large granular lymphocyte leukemia.
Title: Identification of novel STAT5B mutations and characterization of TCRβ signatures in CD4+ T-cell large granular lymphocyte leukemia.
miR-146a enhances regulatory T-cell differentiation and function in allergic rhinitis by targeting STAT5b.
Title: miR-146a enhances regulatory T-cell differentiation and function in allergic rhinitis by targeting STAT5b.
Developmental Adaptive Immune Defects Associated with STAT5B Deficiency in Three Young Siblings.
Title: Developmental Adaptive Immune Defects Associated with STAT5B Deficiency in Three Young Siblings.
Single-cell profiling of pediatric T-cell acute lymphoblastic leukemia: Impact of PTEN exon 7 mutation on PI3K/Akt and JAK-STAT signaling pathways.
Title: Single-cell profiling of pediatric T-cell acute lymphoblastic leukemia: Impact of PTEN exon 7 mutation on PI3K/Akt and JAK-STAT signaling pathways.
MKL-1 is a coactivator for STAT5b, the regulator of Treg cell development and function.
Title: MKL-1 is a coactivator for STAT5b, the regulator of Treg cell development and function.
Human growth disorders associated with impaired GH action: Defects in STAT5B and JAK2.
Title: Human growth disorders associated with impaired GH action: Defects in STAT5B and JAK2.

Submit: New GeneRIF Correction See all GeneRIFs (209)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant MedGen: C5436546 OMIM: 618985 GeneReviews: Not available	Compare labs
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive MedGen: C5435698 OMIM: 245590 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	CD4 ligation with HIV gp120 inhibits T cell receptor-induced tyrosine phosphorylation and expression of STAT5 by blocking activation and expression of JAK3	PubMed
capsid	gag	Silencing C-terminally truncated STAT5 expression by siRNA enhances HIV-1 RNA and p24 Gag expression in chronically HIV-infected U1 cell line	PubMed
	gag	STAT5 binds to the HIV-1 LTR during HIV infection, activating LTR transcription and leading to the upregulation of HIV-1 p24 Capsid production and an increase in the number of p24+ cells	PubMed
integrase	gag-pol	Analysis of HIV-1 proviral integration sites in antiretroviral treatment patients indicates that STAT5B gene favors HIV-1 integration for expansion and persistence of infected cells, suggesting HIV-1 IN interacts with STAT5B	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17S1793 (e-PCR), detects polymorphism
- UniSTS:30231

D17S1802 (e-PCR), detects polymorphism
- UniSTS:72218

D17S1240 (e-PCR)
- UniSTS:149853

WI-11886 (e-PCR)
- UniSTS:25704

RH91495 (e-PCR)
- UniSTS:88434

D17S1139 (e-PCR)
- UniSTS:148851

D1S1425 (e-PCR)
- UniSTS:149621

D17S1143 (e-PCR)
- UniSTS:148855

STS-U48730 (e-PCR)
- UniSTS:49312

D17S1192 (e-PCR)
- UniSTS:73891

RH16203 (e-PCR)
- UniSTS:72870

D17S1673 (e-PCR)
- UniSTS:63920

SHGC-64296 (e-PCR)
- UniSTS:50104

RH45469 (e-PCR)
- UniSTS:29627

RH36528 (e-PCR)
- UniSTS:69829

STS-T90203 (e-PCR)
- UniSTS:49351

D17S1801 (e-PCR), detects polymorphism
- UniSTS:18642

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin binding	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables nuclear glucocorticoid receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in B cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in Peyer's patch development	IEA Inferred from Electronic Annotation more info
involved_in T cell differentiation in thymus	IEA Inferred from Electronic Annotation more info
involved_in T cell homeostasis	IEA Inferred from Electronic Annotation more info
involved_in activated T cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in cell surface receptor signaling pathway via JAK-STAT	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell surface receptor signaling pathway via JAK-STAT	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular response to epidermal growth factor stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to growth factor stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to hormone stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cytokine-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in defense response	IBA Inferred from Biological aspect of Ancestor more info
involved_in development of secondary female sexual characteristics	IEA Inferred from Electronic Annotation more info
involved_in development of secondary male sexual characteristics	IEA Inferred from Electronic Annotation more info
involved_in erythrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in female pregnancy	IEA Inferred from Electronic Annotation more info
involved_in gamma-delta T cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in growth hormone receptor signaling pathway via JAK-STAT	IBA Inferred from Biological aspect of Ancestor more info
involved_in growth hormone receptor signaling pathway via JAK-STAT	IDA Inferred from Direct Assay more info	PubMed
involved_in lactation	IEA Inferred from Electronic Annotation more info
involved_in lipid storage	IEA Inferred from Electronic Annotation more info
involved_in luteinization	IEA Inferred from Electronic Annotation more info
involved_in mast cell migration	IEA Inferred from Electronic Annotation more info
involved_in mitotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in myeloid cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in natural killer cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in natural killer cell mediated cytotoxicity	IEA Inferred from Electronic Annotation more info
involved_in natural killer cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of erythrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of myeloid cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of B cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of activated T cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of erythrocyte differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gamma-delta T cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of interleukin-2 production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of mitotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of multicellular organism growth	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of natural killer cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of natural killer cell mediated cytotoxicity	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of natural killer cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	NAS Non-traceable Author Statement more info	PubMed
involved_in progesterone metabolic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of epithelial cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in regulation of multicellular organism growth	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of steroid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to estradiol	IDA Inferred from Direct Assay more info	PubMed
involved_in response to interleukin-15	IEA Inferred from Electronic Annotation more info
involved_in response to interleukin-2	IEA Inferred from Electronic Annotation more info
involved_in response to interleukin-4	IEA Inferred from Electronic Annotation more info
involved_in response to peptide hormone	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_positive_effect taurine metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of RNA polymerase II transcription regulator complex	IBA Inferred from Biological aspect of Ancestor more info
part_of RNA polymerase II transcription regulator complex	NAS Non-traceable Author Statement more info	PubMed
part_of chromatin	ISA Inferred from Sequence Alignment more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: signal transducer and activator of transcription 5B

Names: transcription factor STAT5B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007271.1 RefSeqGene

Range

5001..82230

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_192

mRNA and Protein(s)

NM_012448.4 → NP_036580.2 signal transducer and activator of transcription 5B

See identical proteins and their annotated locations for NP_036580.2

Status: REVIEWED

Source sequence(s)

BC065227, U47686

Consensus CDS

CCDS11423.1

UniProtKB/Swiss-Prot

P51692, Q8WWS8

UniProtKB/TrEMBL

A0A8V8TP16

Related

ENSP00000293328.3, ENST00000293328.8

Conserved Domains (4) summary

cd10420
Location:573 → 717

SH2_STAT5b; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 5b proteins

cd16855
Location:139 → 330

STAT5_CCD; Coiled-coil domain of Signal Transducer and Activator of Transcription 5 (STAT5)

cd16849
Location:332 → 489

STAT5_DBD; DNA-binding domain of Signal Transducer and Activator of Transcription 5 (STAT5)

pfam02865
Location:2 → 124

STAT_int; STAT protein, protein interaction domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

42199177..42288370 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047436593.1 → XP_047292549.1 signal transducer and activator of transcription 5B isoform X2
XM_024450897.2 → XP_024306665.1 signal transducer and activator of transcription 5B isoform X1

UniProtKB/Swiss-Prot

P51692, Q8WWS8

UniProtKB/TrEMBL

A0A8V8TP16

Related

ENSP00000513923.1, ENST00000698776.1

Conserved Domains (4) summary

cd10420
Location:573 → 717

SH2_STAT5b; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 5b proteins

cd16855
Location:139 → 330

STAT5_CCD; Coiled-coil domain of Signal Transducer and Activator of Transcription 5 (STAT5)

cd16849
Location:332 → 489

STAT5_DBD; DNA-binding domain of Signal Transducer and Activator of Transcription 5 (STAT5)

pfam02865
Location:2 → 124

STAT_int; STAT protein, protein interaction domain
XM_017024977.2 → XP_016880466.1 signal transducer and activator of transcription 5B isoform X2

UniProtKB/TrEMBL

A0A8V8TP16

Related

ENST00000698801.1

Conserved Domains (4) summary

cd10420
Location:479 → 623

SH2_STAT5b; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 5b proteins

pfam01017
Location:47 → 236

STAT_alpha; STAT protein, all-alpha domain

pfam02864
Location:238 → 488

STAT_bind; STAT protein, DNA binding domain

cl03749
Location:2 → 31

STAT_int; STAT protein, protein interaction domain
XM_024450898.2 → XP_024306666.1 signal transducer and activator of transcription 5B isoform X1

UniProtKB/Swiss-Prot

P51692, Q8WWS8

UniProtKB/TrEMBL

A0A8V8TP16

Conserved Domains (4) summary

cd10420
Location:573 → 717

SH2_STAT5b; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 5b proteins

cd16855
Location:139 → 330

STAT5_CCD; Coiled-coil domain of Signal Transducer and Activator of Transcription 5 (STAT5)

cd16849
Location:332 → 489

STAT5_DBD; DNA-binding domain of Signal Transducer and Activator of Transcription 5 (STAT5)

pfam02865
Location:2 → 124

STAT_int; STAT protein, protein interaction domain
XM_005257626.5 → XP_005257683.1 signal transducer and activator of transcription 5B isoform X3

UniProtKB/TrEMBL

A0A8V8TM91

Related

ENSP00000513953.1, ENST00000698815.1

Conserved Domains (3) summary

smart00964
Location:2 → 125

STAT_int; STAT protein, protein interaction domain

cd16855
Location:139 → 330

STAT5_CCD; Coiled-coil domain of Signal Transducer and Activator of Transcription 5 (STAT5)

cd16849
Location:332 → 489

STAT5_DBD; DNA-binding domain of Signal Transducer and Activator of Transcription 5 (STAT5)

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

43055661..43144521 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054316998.1 → XP_054172973.1 signal transducer and activator of transcription 5B isoform X1

UniProtKB/Swiss-Prot

P51692, Q8WWS8
XM_054317001.1 → XP_054172976.1 signal transducer and activator of transcription 5B isoform X2
XM_054317000.1 → XP_054172975.1 signal transducer and activator of transcription 5B isoform X2
XM_054316999.1 → XP_054172974.1 signal transducer and activator of transcription 5B isoform X1

UniProtKB/Swiss-Prot

P51692, Q8WWS8
XM_054317002.1 → XP_054172977.1 signal transducer and activator of transcription 5B isoform X3