GZF1 Chromosome 20
GDNF inducible zinc finger protein 1
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What This Gene Does
Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Zinc fingers C2H2-type|BTB domain containing"
Locus Type
gene with protein product
Location
20p11.21
Ensembl
ENSG00000125812
Associated Conditions (8)
Inborn genetic diseases
Cholangiocarcinoma
Thyroid cancer
nonmedullary
1
Joint laxity
short stature
and myopia
Key Variants
RS143775476
Conflicting classifications of pathogenicity
Inborn genetic diseases, Cholangiocarcinoma, Thyroid cancer
Health Risk
RS538920224
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1210751666
Pathogenic
Joint laxity, short stature, and myopia
Health Risk
RS1287072443
Pathogenic
Health Risk
RS1359334884
Pathogenic
Health Risk
RS1555786618
Pathogenic
Joint laxity, short stature, and myopia
Health Risk
RS1555786729
Pathogenic
Joint laxity, short stature, and myopia
Health Risk
RS2123036034
Pathogenic
Health Risk
RS2123037779
Pathogenic
Health Risk
RS2123057775
Pathogenic
Joint laxity, short stature, and myopia
Health Risk
RS2514890513
Pathogenic
Health Risk
RS1227208547
Pathogenic/Likely pathogenic
Joint laxity, short stature, and myopia
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143775476 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Cholangiocarcinoma, Thyroid cancer |
| RS538920224 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1210751666 | Health Risk | Pathogenic | Joint laxity, short stature, and myopia |
| RS1287072443 | Health Risk | Pathogenic | — |
| RS1359334884 | Health Risk | Pathogenic | — |
| RS1555786618 | Health Risk | Pathogenic | Joint laxity, short stature, and myopia |
| RS1555786729 | Health Risk | Pathogenic | Joint laxity, short stature, and myopia |
| RS2123036034 | Health Risk | Pathogenic | — |
| RS2123037779 | Health Risk | Pathogenic | — |
| RS2123057775 | Health Risk | Pathogenic | Joint laxity, short stature, and myopia |
| RS2514890513 | Health Risk | Pathogenic | — |
| RS1227208547 | Health Risk | Pathogenic/Likely pathogenic | Joint laxity, short stature, and myopia |