SELENOH
protein-codingselenoprotein H, the group of Selenoproteins
Gene summary
This gene encodes a nucleolar protein, which belongs to the SelWTH family. It functions as an oxidoreductase, and has been shown to protect neurons against UVB-induced damage by inhibiting apoptotic cell death pathways, promote mitochondrial biogenesis and mitochondrial function, and suppress cellular senescence through genome maintenance and redox regulation. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2016]
- C11orf31
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~2.1 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to SELENOH variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_170746.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 2 | 2 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 3 | 0 | 0 | 3 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_734467.1 | 3 | MANE Select | |
| Ensembl | ENSP00000434511.1 | 3 | MANE Select | |
| RefSeq | NP_001308264.1 | 3 | Standard | |
| Ensembl | ENSP00000373509.4 | 3 | Standard |
Model Organisms & Knockout Phenotypes
Observed phenotypic effects in mouse and zebrafish models
| Gene / Model | Organism | Observed Phenotype |
|---|---|---|
| selenoh | Danio rerio | Structure: hepatocyte Quality: ballooning abnormal |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Selenium Micronutrient Network
- Selenium Metabolism and Selenoproteins
Molecular Function
- RNA binding
Cellular Component
- cytoplasm
- Golgi apparatus
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000388857
- Coding exons
- 3
- Length
- 2162
- Individuals with no LoFs
- 122249
- Homozygous LoFs
- 7
- Heterozygous LoFs
- 691
- Defined
- 122947
- p
- 0.00284
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.934 | 78 | 58.0 | 1.34 | 0.00000259 | 742 |
| Missense (PolyPhen) | 29 | 21.038 | 1.3785 | 254 | ||
| Synonymous | -0.622 | 30 | 26.0 | 1.16 | 0.00000120 | 244 |
| Loss of Function | -0.143 | 4 | 3.70 | 1.08 | 1.56e-7 | 51 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00031 | 0.00027 | rare |
| Latino/Admixed American | 0.00011 | 0.000088 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.000062 | 0.000056 | rare |
| Finnish | 0.026 | 0.022 | notable |
| European (Non-Finnish) | 0.0020 | 0.0018 | notable |
| South Asian | 0.00034 | 0.00030 | rare |
| Other | 0.0014 | 0.0012 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: May be involved in a redox-related process. {ECO:0000305}.;
Intolerance Scores
- RVIS EVS
- 0.22
- RVIS percentile EVS
- 67.92
Essentials
- Essential (gene trap)
- N