KLF7 Chromosome 2
KLF transcription factor 7
Upload your DNA to see your personal genotypes for variants in KLF7.
What This Gene Does
The protein encoded by this gene is a member of the Kruppel-like transcriptional regulator family. Members in this family regulate cell proliferation, differentiation and survival and contain three C2H2 zinc fingers at the C-terminus that mediate binding to GC-rich sites. This protein may contribute to the progression of type 2 diabetes by inhibiting insulin expression and secretion in pancreatic beta-cells and by deregulating adipocytokine secretion in adipocytes. A pseudogene of this gene is located on the long arm of chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Gene Info
Gene Group
"Zinc fingers C2H2-type|KLF transcription factors|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
2q33.3
Ensembl
ENSG00000118263
Associated Conditions (9)
Inborn genetic diseases
Mild expressive language delay
Delayed gross motor development
KLF7-related neurodevelopmental disorder
Neurodevelopmental disorder
KLF7-related disorder
Intellectual disability
Anxiety
intellectual deficiency
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1276619385 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Mild expressive language delay, Delayed gross motor development |
| RS1057518995 | Health Risk | Pathogenic/Likely pathogenic | intellectual deficiency, KLF7-related disorder, Neurodevelopmental disorder |