HLA-H
pseudomajor histocompatibility complex, class I, H (pseudogene), the group of Histocompatibility complex
Gene summary
This major histocompatibility complex gene represents a transcribed pseudogene, possibly derived from HLA-A. This gene displays extensive variation. [provided by RefSeq, May 2010]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
Genomic locus
External References & Databases
GenCC 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 HLA-H variants in ClinVar
No annotated ClinVar phenotypes.
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript . 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 | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 | 0 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| No transcripts match your selected source or search query. | ||||
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Proteasome Degradation
- Neutrophil degranulation
- Cytokine Signaling in Immune system
- Innate Immune System
- Immune System
Biological Process
- positive regulation of T cell mediated cytotoxicity
- antigen processing and presentation of peptide antigen via MHC class I
- antigen processing and presentation of endogenous peptide antigen via MHC class Ib
- antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent
- antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent
Molecular Function
- signaling receptor binding
- beta-2-microglobulin binding
- peptide antigen binding
Cellular Component
- Golgi membrane
- extracellular space
- plasma membrane
- integral component of plasma membrane
- external side of plasma membrane
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Involved in the presentation of foreign antigens to the immune system.;
Essentials
- Indispensability pred.
- N
- Indispensability score
- 0.231