GATA-Binding Protein 2

Alternative Names

  • GATA2
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OMIM Number

137295

NCBI Gene ID

2624

Uniprot ID

P23769

Length

13,766 bases

No. of Exons

8

No. of isoforms

2

Protein Name

Endothelial transcription factor GATA-2

Molecular Mass

50500 Da

Amino Acid Count

480

Genomic Location

chr3:128,479,422-128,493,187

Gene Map Locus
3q21.3

Description

This gene encodes a member of the GATA family of zinc-finger transcription factors that are named for the consensus nucleotide sequence they bind in the promoter regions of target genes. The encoded protein plays an essential role in regulating transcription of genes involved in the development and proliferation of hematopoietic and endocrine cell lineages. Alternative splicing results in multiple transcript variants. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001145661.2:c.1032_1036dupLebanonchr3:128481932:128481936Likely PathogenicLymphedema, Primary, with MyelodysplasiaNG_029334.1:g.16256_12660dup; NM_001145661.2:c.1032_1036dup; NP_116027.2:p.Gly346Glufs
NM_032638.5:c.1040C>TLebanonchr3:128481922Uncertain SignificanceBreast CancerNG_029334.1:g.16266C>T; NM_032638.5:c.1040C>T; NP_116027.2:p.Thr347Ile1058258
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