GATA-Binding Protein 5

Alternative Names

  • GATA5
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OMIM Number

611496

NCBI Gene ID

140628

Uniprot ID

Q9BWX5

Length

12,474 bases

No. of Exons

8

No. of isoforms

1

Protein Name

Transcription factor GATA-5

Molecular Mass

41299 Da

Amino Acid Count

397

Genomic Location

chr20:62,463,497-62,475,970

Gene Map Locus
20q13.33

Description

The GATA5 gene codes for a transcription factor that plays a vital role in cardiovascular development. The functional protein contains two GATA-type zinc finger domains.  

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_080473.4:c.424T>C Lebanonchr20:62475098Likely PathogenicLikely PathogenicConotruncal Heart MalformationsNG_046963.1:g.5873T>C; NM_080473.4:c.424T>C ; NP_536721.1:p.Tyr142His111554140420167
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