SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit
Gene ID: 11198, updated on 3-Nov-2024Gene type: protein coding
Also known as: CDC68; SPT16; NEDDFAC; FACTP140; SPT16/CDC68
- See all available tests in GTR for this gene
- Go to complete Gene record for SUPT16H
- Go to Variation Viewer for SUPT16H variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum | not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2012-05-09) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2012-05-09) ClinGen Genome Curation Page |
Genomic context
- Location:
- 14q11.2
- Sequence:
- Chromosome: 14; NC_000014.9 (21351476..21384019, complement)
- Total number of exons:
- 27
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SUPT16H variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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