GeneID: 72



Names

Common Name: JAZF1 Type: Gene
Chromosome: 7 (NC_000007.14) Locus: NG_011499.1 (JAZF1)
HUGO Symbol: JAZF1 Full Name: JAZF zinc finger 1
Exons: 5 Introns: 4

Description:
The JAZF1 gene encodes a nuclear protein containing three putative C2H2-type zinc finger motifs. It is best characterized for its transcriptional repressive effect on NR2C2 expression, an orphan nuclear receptor of the steroid receptor family whose target genes play important roles in growth, development and metabolism. It is expressed in several tissues, including testis, placenta, prostate and colon. It plays a role in glucose homeostasis and has been associated with the development of type 2 diabetes. Chromosomal aberrations involving this gene are associated with endometrial stromal tumors. Polymorphisms in this gene associated with HbF levels in sickle cell patients. Alternatively spliced variants that encode different protein isoforms have been described, but not all variants have been fully characterized.

Synonyms: TIP27 , ZNF802

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Nakajima T, Fujino S, Nakanishi G, Kim YS, Jetten AM, TIP27: a novel repressor of the nuclear orphan receptor TAK1/TR4., Nucleic Acids Res. , 32(14), 4194-204, 2004 PubMed
  2. Yuan L, Luo X, Zeng M, Zhang Y, Yang M, Zhang L, Liu R, Boden G, Liu H, Ma ZA, Li L, Yang G, Transcription factor TIP27 regulates glucose homeostasis and insulin sensitivity in a PI3-kinase/Akt-dependent manner in mice., Int J Obes (Lond) , 39(6), 949-58, 2015 PubMed
  3. Liu L, Pertsemlidis A, Ding LH, Story MD, Steinberg MH, Sebastiani P, Hoppe C, Ballas SK, Pace BS, A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease., Exp. Biol. Med. (Maywood) , 2016 PubMed
Created on 2016-04-26 14:19:53, Last reviewed on 2016-04-26 14:21:57 (Show full history)


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