KDM5A Chromosome 12
Lysine demethylase 5A
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What This Gene Does
This gene encodes a member of the Jumonji, AT-rich interactive domain 1 (JARID1) histone demethylase protein family. The encoded protein plays a role in gene regulation through the histone code by specifically demethylating lysine 4 of histone H3. The encoded protein interacts with many other proteins, including retinoblastoma protein, and is implicated in the transcriptional regulation of Hox genes and cytokines. This gene may play a role in tumor progression. [provided by RefSeq, Aug 2013]
Gene Info
Gene Group
"PHD finger proteins|AT-rich interaction domain containing|Lysine demethylases|EMSY complex"
Locus Type
gene with protein product
Location
12p13.33
Ensembl
ENSG00000073614
Associated Conditions (3)
Intellectual disability
Seizure
El Hayek-Chahrour neurodevelopmental disorder
Key Variants
RS201963528
Conflicting classifications of pathogenicity
Health Risk
RS775280239
Conflicting classifications of pathogenicity
Intellectual disability, Seizure, El Hayek-Chahrour neurodevelopmental disorder
Health Risk
RS1356405952
Likely pathogenic
Intellectual disability, Seizure, Intellectual disability
Health Risk
RS1943362366
Likely pathogenic
Intellectual disability, Seizure, Intellectual disability
Health Risk
RS1944690574
Pathogenic
Health Risk
RS2498247383
Pathogenic
El Hayek-Chahrour neurodevelopmental disorder, El Hayek-Chahrour neurodevelopmental disorder
Health Risk
RS2498285184
Pathogenic
El Hayek-Chahrour neurodevelopmental disorder, El Hayek-Chahrour neurodevelopmental disorder
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201963528 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS775280239 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Seizure, El Hayek-Chahrour neurodevelopmental disorder |
| RS1356405952 | Health Risk | Likely pathogenic | Intellectual disability, Seizure, Intellectual disability |
| RS1943362366 | Health Risk | Likely pathogenic | Intellectual disability, Seizure, Intellectual disability |
| RS1944690574 | Health Risk | Pathogenic | — |
| RS2498247383 | Health Risk | Pathogenic | El Hayek-Chahrour neurodevelopmental disorder, El Hayek-Chahrour neurodevelopmental disorder |
| RS2498285184 | Health Risk | Pathogenic | El Hayek-Chahrour neurodevelopmental disorder, El Hayek-Chahrour neurodevelopmental disorder |