SUPT16H Chromosome 14
SPT16 homolog, facilitates chromatin remodeling subunit
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What This Gene Does
Transcription of protein-coding genes can be reconstituted on naked DNA with only the general transcription factors and RNA polymerase II. However, this minimal system cannot transcribe DNA packaged into chromatin, indicating that accessory factors may facilitate access to DNA. One such factor, FACT (facilitates chromatin transcription), interacts specifically with histones H2A/H2B to effect nucleosome disassembly and transcription elongation. FACT is composed of an 80 kDa subunit and a 140 kDa subunit; this gene encodes the 140 kDa subunit. [provided by RefSeq, Feb 2009]
Gene Info
Gene Group
"M24 metallopeptidase family|Armadillo like helical domain containing"
Locus Type
gene with protein product
Location
14q11.2
Ensembl
ENSG00000092201
Associated Conditions (1)
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
Key Variants
RS2139399670
Likely pathogenic
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
Health Risk
RS2503025907
Likely pathogenic
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
Health Risk
RS1886529007
Pathogenic
Health Risk
RS2139397506
Pathogenic
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
Health Risk
RS2139402444
Pathogenic
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
Health Risk
RS2139403510
Pathogenic
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2139399670 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum |
| RS2503025907 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum |
| RS1886529007 | Health Risk | Pathogenic | — |
| RS2139397506 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum |
| RS2139402444 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum |
| RS2139403510 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum |