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Gene

STAT5B

signal transducer and activator of transcription 5B

Summary

Cytogenetic location
17q21.2
Coordinates
Chromosome 17: 42,199,177–42,276,391 (GRCh38)
Exons
19 exons across 77.2 kb
Protein
787 amino acids
MANE Select transcript
ENST00000293328.8NM_012448.4
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

  • Growth Hormone Insensitivity & IGF-1 Axis Disorders

    • Growth hormone insensitivity syndrome

      Short stature with normal or high growth hormone but low IGF-1, including Laron syndrome (GHR), IGF1, IGFALS and IGF1R defects, and STAT5B deficiency with immune dysregulation.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      Actionability

      Recombinant IGF-1 (mecasermin) can improve growth in some forms; STAT5B deficiency also needs immune and lung follow-up.

How STAT5B is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 17, with a bracket where STAT5B sits. STAT5B and 37 genes near it on chromosome 17, from 41,737,784 to 42,737,783.Chromosome 1717q21.2p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.341.8 Mb42 Mb42.2 Mb42.4 Mb42.6 MbJUP: 41,750,887–41,797,798, reverse strandJUPP3H4: 41,801,944–41,812,750, reverse strandFKBP10: 41,812,079–41,823,221, forward strandFKBP10NT5C3B: 41,823,972–41,836,271, reverse strandNT5C3BKLHL10: 41,835,685–41,848,384, forward strandKLHL10KLHL11: 41,848,513–41,865,430, reverse strandKLHL11ACLY: 41,866,916–41,930,551, reverse strandACLYODAD4: 41,930,599–41,966,503, forward strandODAD4CNP: 41,966,729–41,977,740, forward strandCNPDNAJC7: 41,974,005–42,021,376, reverse strandDNAJC7NKIRAS2: 42,011,382–42,025,644, forward strandNKIRAS2ZNF385C: 42,025,576–42,098,479, reverse strandZNF385CC17orf113: 42,038,232–42,050,601, reverse strandC17orf113DHX58: 42,101,404–42,112,735, reverse strandKAT2A: 42,113,109–42,121,382, reverse strand: 42,119,674–42,154,916, reverse strandHSPB9: 42,122,804–42,123,352, forward strandHSPB9RAB5C: 42,124,976–42,155,044, reverse strandRAB5CKCNH4: 42,156,891–42,181,146, reverse strandKCNH4HCRT: 42,184,060–42,185,452, reverse strandHCRTGHDC: 42,188,799–42,194,513, reverse strandGHDCSTAT5B: 42,199,177–42,276,391, reverse strandSTAT5BSTAT5A: 42,287,547–42,311,943, forward strandSTAT5ASTAT3: 42,313,322–42,388,574, reverse strandSTAT3CAVIN1: 42,402,449–42,423,322, reverse strandCAVIN1ATP6V0A1: 42,458,823–42,522,582, forward strandATP6V0A1NAGLU: 42,536,216–42,544,449, forward strandNAGLUHSD17B1: 42,552,920–42,555,217, forward strandHSD17B1COASY: 42,561,467–42,566,277, forward strandCOASYMLX: 42,567,067–42,573,239, forward strandMLXPSMC3IP: 42,572,310–42,577,831, reverse strandRETREG3: 42,579,508–42,610,623, reverse strandTUBG1: 42,609,411–42,615,253, forward strandTUBG2: 42,659,223–42,667,007, forward strandTUBG2PLEKHH3: 42,667,914–42,677,064, reverse strandPLEKHH3CCR10: 42,678,889–42,683,917, reverse strandCCR10CNTNAP1: 42,682,368–42,699,993, forward strandCNTNAP1EZH1: 42,700,270–42,745,069, reverse strandEZH1Diagram of STAT5B: 19 exons on the reverse strand of chromosome 17Exon 16: 1 known disease-causing siteExon 15: 4 known disease-causing sitesExon 14: 2 known disease-causing sitesExon 13: 1 known disease-causing siteExon 10: 2 known disease-causing sitesExon 9: 2 known disease-causing sitesExon 6: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 4: 1 known disease-causing siteExon 3: 2 known disease-causing sitesExon 2: 3 known disease-causing sitesExon 19: 42,199,177–42,201,864, 2,688 basesExon 18: 42,202,340–42,202,447, 108 basesExon 17: 42,202,757–42,202,808, 52 basesExon 16: 42,207,558–42,207,728, 171 basesExon 15: 42,210,171–42,210,301, 131 basesExon 14: 42,210,403–42,210,497, 95 basesExon 13: 42,211,984–42,212,190, 207 basesExon 12: 42,216,014–42,216,106, 93 basesExon 11: 42,217,160–42,217,282, 123 basesExon 10: 42,217,377–42,217,464, 88 basesExon 9: 42,218,151–42,218,330, 180 basesExon 8: 42,218,723–42,218,878, 156 basesExon 7: 42,219,312–42,219,463, 152 basesExon 6: 42,219,712–42,219,842, 131 basesExon 5: 42,223,382–42,223,556, 175 basesExon 4: 42,224,779–42,224,868, 90 basesExon 3: 42,227,529–42,227,685, 157 basesExon 2: 42,232,000–42,232,137, 138 basesExon 1: 42,276,248–42,276,391, 144 bases191510515′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 5.1 kb of the gene's 77.2 kb; 2,364 of those bases code for the protein.

Sequencing STAT5B

9Low

How hard STAT5B is to sequence with short reads, out of 100

  • Mappability8.9%
  • Homology12%
  • Repeats5.8%
  • GC content13%
  • Reference coverage0%

23

positions in STAT5B where ClinVar classes a change as pathogenic or likely pathogenic

3 of them (13%) fall in regions short reads find hard.

  • Segmental duplications (3 sites)

A whole genome covers all 77.2 kb of STAT5B, introns included, not only the 5.1 kb of exons.

Genes linked to the same conditions

Traits linked to STAT5B

The Human Phenotype Ontology lists these as features of the rare conditions STAT5B can cause. Each trait's page lists the other genes linked to it.

External links

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-17: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.17-8666dff2.

Cite this page

APA

Dante Labs. (n.d.). STAT5B gene: signal transducer and activator of transcription 5B. Retrieved 17 October 2026, from https://dantelabs.com/genes/stat5b

Vancouver

Dante Labs. STAT5B gene: signal transducer and activator of transcription 5B [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/stat5b

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