Skip to content
Use your HSA or FSA funds

Gene

GATA2

GATA binding protein 2

Summary

Cytogenetic location
3q21.3
Coordinates
Chromosome 3: 128,479,427–128,493,201 (GRCh38)
Exons
6 exons across 13.8 kb
Protein
480 amino acids
Inheritance
Autosomal dominant
Also known as
NFE1B
MANE Select transcript
ENST00000341105.7NM_032638.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Inherited Predisposition to Myeloid Blood Cancers

    • GATA2 deficiency with susceptibility to MDS/AMLAutosomal dominant

      GATA2 variants causing low monocyte, B-cell and NK-cell counts, infections, lymphoedema and a high risk of myelodysplastic syndrome and leukaemia.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong
      What knowing changes

      Monitoring of blood counts and bone marrow, infection prevention, and early consideration of stem-cell transplant.

Broader groupings

  • Other Inborn Errors of Immunity

    • Immunodeficiency Disease

      One of 170 genes linked to it

      Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong
      What knowing changes

      HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How GATA2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 3, with a bracket where GATA2 sits. GATA2 and 10 genes near it on chromosome 3, from 127,986,314 to 128,986,313.Chromosome 33q21.3p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q29128 Mb128.2 Mb128.4 Mb128.6 Mb128.8 MbMGLL: 127,689,062–128,052,190, reverse strandMGLLKBTBD12: 127,915,207–127,989,100, forward strandKBTBD12SEC61A1: 128,051,641–128,071,705, forward strandSEC61A1RUVBL1: 128,063,024–128,153,914, reverse strandRUVBL1EEFSEC: 128,153,174–128,427,044, forward strandEEFSECDNAJB8: 128,462,437–128,466,968, reverse strandDNAJB8GATA2: 128,479,427–128,493,201, reverse strandGATA2RPN1: 128,619,968–128,681,075, reverse strandRPN1RAB7A: 128,693,669–128,825,980, forward strandRAB7AACAD9: 128,879,494–128,924,003, forward strandACAD9CFAP92: 128,909,866–129,002,690, reverse strandCFAP92Diagram of GATA2: 6 exons on the reverse strand of chromosome 3Exon 6: 21 known disease-causing sitesExon 5: 56 known disease-causing sitesExon 4: 14 known disease-causing sitesExon 3: 52 known disease-causing sitesExon 2: 15 known disease-causing sitesExon 6: 128,479,427–128,481,318, 1,892 basesExon 5: 128,481,819–128,481,944, 126 basesExon 4: 128,483,860–128,484,005, 146 basesExon 3: 128,485,727–128,486,368, 642 basesExon 2: 128,486,803–128,487,076, 274 basesExon 1: 128,492,899–128,493,201, 303 bases6543215′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 3.4 kb of the gene's 13.8 kb; 1,443 of those bases code for the protein.

How a genome test reads GATA2

170

positions in GATA2 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 13.8 kb of GATA2, introns included, not only the 3.4 kb of exons.

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 2026-10-16: 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 Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). GATA2 gene: GATA binding protein 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/gata2

Vancouver

Dante Labs. GATA2 gene: GATA binding protein 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/gata2

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test