JARID2 Chromosome 6
Jumonji and AT-rich interaction domain containing 2
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What This Gene Does
This gene encodes a Jumonji- and AT-rich interaction domain (ARID)-domain-containing protein. The encoded protein is a DNA-binding protein that functions as a transcriptional repressor. This protein interacts with the Polycomb repressive complex 2 (PRC2) which plays an essential role in regulating gene expression during embryonic development. This protein facilitates the recruitment of the PRC2 complex to target genes. Alternate splicing results in multiple transcript variants. Mutations in this gene are associated with chronic myeloid malignancies. [provided by RefSeq, May 2012]
Gene Info
Gene Group
"AT-rich interaction domain containing|Iron (II) and 2-oxoglutarate dependent oxygenases"
Locus Type
gene with protein product
Location
6p22.3
Ensembl
ENSG00000008083
Associated Conditions (10)
Inborn genetic diseases
Autosomal dominant non-syndromic intellectual disability
Neurodevelopmental disorder
Developmental delay with variable intellectual disability and dysmorphic facies
Speech apraxia
Stereotypic movement disorder
Autism
Intellectual disability
See cases
Mild intellectual disability
Key Variants
RS148235578
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS41267696
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2127277880
Likely pathogenic
Autosomal dominant non-syndromic intellectual disability, Autosomal dominant non-syndromic intellectual disability
Health Risk
RS2127756207
Likely pathogenic
Neurodevelopmental disorder, Developmental delay with variable intellectual disability and dysmorphic facies, Neurodevelopmental disorder
Health Risk
RS2127756209
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2482160222
Likely pathogenic
Speech apraxia, Stereotypic movement disorder, Autism
Health Risk
RS2533083357
Likely pathogenic
Health Risk
RS2533091746
Likely pathogenic
Developmental delay with variable intellectual disability and dysmorphic facies, Developmental delay with variable intellectual disability and dysmorphic facies
Health Risk
RS2533131179
Likely pathogenic
See cases, See cases
Health Risk
RS2127515878
Pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2127735189
Pathogenic
Mild intellectual disability, Mild intellectual disability
Health Risk
RS2127743491
Pathogenic
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148235578 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS41267696 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2127277880 | Health Risk | Likely pathogenic | Autosomal dominant non-syndromic intellectual disability, Autosomal dominant non-syndromic intellectual disability |
| RS2127756207 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Developmental delay with variable intellectual disability and dysmorphic facies, Neurodevelopmental disorder |
| RS2127756209 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2482160222 | Health Risk | Likely pathogenic | Speech apraxia, Stereotypic movement disorder, Autism |
| RS2533083357 | Health Risk | Likely pathogenic | — |
| RS2533091746 | Health Risk | Likely pathogenic | Developmental delay with variable intellectual disability and dysmorphic facies, Developmental delay with variable intellectual disability and dysmorphic facies |
| RS2533131179 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2127515878 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2127735189 | Health Risk | Pathogenic | Mild intellectual disability, Mild intellectual disability |
| RS2127743491 | Health Risk | Pathogenic | — |
| RS2482161504 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2533243061 | Health Risk | Pathogenic | Developmental delay with variable intellectual disability and dysmorphic facies, Developmental delay with variable intellectual disability and dysmorphic facies |
| RS747291227 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS754929108 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |