JAZF Zinc Finger 1

Alternative Names

  • JAZF1
  • Juxtaposed With Another Zinc Finger Gene 1
  • TAK1-Interacting Protein 27
  • TIP27
  • JAZF1/JJAZ1 Fusion Gene, Included

Associated Diseases

Type 2 Diabetes Mellitus
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OMIM Number

606246

NCBI Gene ID

221895

Uniprot ID

Q86VZ6

Length

350,223 bases

No. of Exons

6

No. of isoforms

2

Protein Name

Juxtaposed with another zinc finger protein 1

Molecular Mass

27079 Da

Amino Acid Count

243

Genomic Location

chr7:27,830,572-28,180,794

Gene Map Locus
7p15.2-p15.1

Description

This gene encodes a nuclear protein with three C2H2-type zinc fingers, and functions as a transcriptional repressor. Chromosomal aberrations involving this gene are associated with endometrial stromal tumors. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized [provided by RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_175061.3:c.115+39526A>GUnited Arab EmiratesNC_000007.14:g.28140937T>CAssociationType 2 Diabetes MellitusNG_011499.1:g.44882A>G; NM_175061.3:c.115+39526A>G; NP_778231.2:p.?864745
NM_175061.3:c.115+39526A>TLebanonNC_000007.14:g.28140937T>ABenignNG_011499.1:g.44882A>T; NM_175061.3:c.115+39526A>T; NP_778231.2:p.?864745
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