HDAC4 Chromosome 2
Histone deacetylase 4
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What This Gene Does
Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class II of the histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. This protein does not bind DNA directly, but through transcription factors MEF2C and MEF2D. It seems to interact in a multiprotein complex with RbAp48 and HDAC3. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Histone deacetylases, class IIA|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
2q37.3
Ensembl
ENSG00000068024
Associated Conditions (10)
Inborn genetic diseases
HDAC4-related disorder
Intellectual disability
VATER association
Chromosome 2q37 deletion syndrome
Neurodevelopmental disorder with central hypotonia and dysmorphic facies
Multiple myeloma
Profound intellectual disability
Brachydactyly syndrome type E
Severe intellectual disability
Key Variants
RS1281977096
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138137158
Conflicting classifications of pathogenicity
Health Risk
RS139841625
Conflicting classifications of pathogenicity
Health Risk
RS140526832
Conflicting classifications of pathogenicity
Health Risk
RS142279745
Conflicting classifications of pathogenicity
HDAC4-related disorder, HDAC4-related disorder
Health Risk
RS144022590
Conflicting classifications of pathogenicity
HDAC4-related disorder, HDAC4-related disorder
Health Risk
RS144099208
Conflicting classifications of pathogenicity
Health Risk
RS145474829
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147090090
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS148880349
Conflicting classifications of pathogenicity
Health Risk
RS149067286
Conflicting classifications of pathogenicity
HDAC4-related disorder, HDAC4-related disorder
Health Risk
RS199784169
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (34)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1281977096 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS138137158 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS139841625 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS140526832 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS142279745 | Health Risk | Conflicting classifications of pathogenicity | HDAC4-related disorder, HDAC4-related disorder |
| RS144022590 | Health Risk | Conflicting classifications of pathogenicity | HDAC4-related disorder, HDAC4-related disorder |
| RS144099208 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145474829 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS147090090 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS148880349 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS149067286 | Health Risk | Conflicting classifications of pathogenicity | HDAC4-related disorder, HDAC4-related disorder |
| RS199784169 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199918439 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201219118 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Inborn genetic diseases, Intellectual disability |
| RS374729768 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Inborn genetic diseases, Intellectual disability |
| RS374897753 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, VATER association, Inborn genetic diseases |
| RS375225974 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual disability, Inborn genetic diseases |
| RS551711839 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS750812086 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS754530774 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS771581695 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS775488590 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS777568201 | Health Risk | Conflicting classifications of pathogenicity | Chromosome 2q37 deletion syndrome, Neurodevelopmental disorder with central hypotonia and dysmorphic facies, Inborn genetic diseases |
| RS778945217 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2152799718 | Health Risk | Likely pathogenic | — |
| RS2152951164 | Health Risk | Likely pathogenic | — |
| RS2153042521 | Health Risk | Likely pathogenic | — |
| RS372078034 | Health Risk | Likely pathogenic | Multiple myeloma, Multiple myeloma |
| RS756574089 | Health Risk | Likely pathogenic | — |
| RS1064797002 | Health Risk | Pathogenic | Inborn genetic diseases, Profound intellectual disability, Brachydactyly syndrome type E |
| RS2152917882 | Health Risk | Pathogenic | Neurodevelopmental disorder with central hypotonia and dysmorphic facies, Neurodevelopmental disorder with central hypotonia and dysmorphic facies |
| RS2152917896 | Health Risk | Pathogenic | Neurodevelopmental disorder with central hypotonia and dysmorphic facies, Neurodevelopmental disorder with central hypotonia and dysmorphic facies |
| RS748900140 | Health Risk | Pathogenic | Chromosome 2q37 deletion syndrome, Chromosome 2q37 deletion syndrome |
| RS2042442594 | Health Risk | Pathogenic/Likely pathogenic | Severe intellectual disability, Neurodevelopmental disorder with central hypotonia and dysmorphic facies, HDAC4-related disorder |