SSUH2
protein-codingssu-2 homolog
Gene summary
Predicted to enable heat shock protein binding activity and unfolded protein binding activity. Involved in odontogenesis. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025]
- C3orf32
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~125.7 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
Inheritance Pattern: AD
Disease ID:MONDO:0007436
Submitter: Orphanet
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to SSUH2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001256748.3. 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 | 1 | 56 | 2 | 3 | 62 | |
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 1 | 0 | 56 | 3 | 3 | 63 |
Highest pathogenic variant AF is 0.00007174175
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001243677.1 | 12 | MANE Select | |
| Ensembl | ENSP00000439378.1 | 12 | MANE Select | |
| RefSeq | NP_001243678.1 | 9 | Standard | |
| RefSeq | NP_057015.2 | 9 | Standard |
Model Organisms & Knockout Phenotypes
Observed phenotypic effects in mouse and zebrafish models
| Gene / Model | Organism | Observed Phenotype |
|---|---|---|
| ssuh2rs1 | Danio rerio | Structure: ceratobranchial 5 tooth Quality: decreased amount abnormal |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- odontogenesis
Cellular Component
- nucleus
- cytoplasm
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000544814
- Coding exons
- 12
- Length
- 125641
- Individuals with no LoFs
- 125713
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 34
- Defined
- 125747
- p
- 0.000135
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.441 | 235 | 217 | 1.08 | 0.0000132 | 2431 |
| Missense (PolyPhen) | 67 | 63.499 | 1.0551 | 799 | ||
| Synonymous | -2.11 | 109 | 84.3 | 1.29 | 0.00000515 | 706 |
| Loss of Function | 0.912 | 17 | 21.6 | 0.788 | 0.00000106 | 257 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00038 | 0.00037 | rare |
| Latino/Admixed American | 0.000087 | 0.000087 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00017 | 0.00016 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00015 | 0.00014 | rare |
| South Asian | 0.00016 | 0.00016 | rare |
| Other | 0.00016 | 0.00016 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Plays a role in odontogenesis. {ECO:0000269|PubMed:27680507}.;
Intolerance Scores
- RVIS EVS
- 0.53
- RVIS percentile EVS
- 80.96
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |