G2Cdb::Gene report
- Gene id
- G00002004
- Gene symbol
- MYH9 (HGNC)
- Species
- Homo sapiens
- Description
- myosin, heavy chain 9, non-muscle
- Orthologue
- G00000755 (Mus musculus)
Databases (8)
- Curated Gene
- OTTHUMG00000030429 (Vega human gene)
- Gene
- ENSG00000100345 (Ensembl human gene)
- 4627 (Entrez Gene)
- 171 (G2Cdb plasticity & disease)
- MYH9 (GeneCards)
- Literature
- 160775 (OMIM)
- Marker Symbol
- HGNC:7579 (HGNC)
- Protein Sequence
- P35579 (UniProt)
Synonyms (5)
- EPSTS
- FTNS
- MHA
- NMHC-II-A
- NMMHCA
Diseases (2)
| Disease | Nervous effect | Mutations Found | Literature | Mutations Type | Genetic association? |
|---|---|---|---|---|---|
| D00000133: May-Hegglin anomaly | N | Y | (16978745) | Unknown (?) | Y |
| D00000134: MYH9-related disease | N | Y | (16818291) | Microinsertion (MI) | Y |
| D00000134: MYH9-related disease | N | Y | (16806139) | Single nucleotide polymorphism (SNP) | Y |
| D00000133: May-Hegglin anomaly | N | Y | (16642488) | Unknown (?) | Y |
| D00000134: MYH9-related disease | N | Y | (16162639) | Nonsense (No) | Y |
| D00000134: MYH9-related disease | N | Y | (16098078) | Microinsertion (MI) | Y |
| D00000134: MYH9-related disease | N | Y | (16077952) | Polymorphism (P) | N |
| D00000134: MYH9-related disease | N | Y | (15667538) | Frameshift mutation (FS) | Y |
| D00000134: MYH9-related disease | N | Y | (15613099) | Deletion (D) | Y |
| D00000134: MYH9-related disease | N | Y | (15339844) | Polymorphism (P) | Y |
References
Literature (135)
Pubmed - human_disease
Pubmed - other
Gene lists (7)
| Gene List | Source | Species | Name | Description | Gene count |
|---|---|---|---|---|---|
| L00000009 | G2C | Homo sapiens | Human PSD | Human orthologues of mouse PSD adapted from Collins et al (2006) | 1080 |
| L00000015 | G2C | Homo sapiens | Human NRC | Human orthologues of mouse NRC adapted from Collins et al (2006) | 186 |
| L00000016 | G2C | Homo sapiens | Human PSP | Human orthologues of mouse PSP adapted from Collins et al (2006) | 1121 |
| L00000059 | G2C | Homo sapiens | BAYES-COLLINS-HUMAN-PSD-CONSENSUS | Human cortex PSD consensus | 748 |
| L00000061 | G2C | Homo sapiens | BAYES-COLLINS-MOUSE-PSD-CONSENSUS | Mouse cortex PSD consensus (ortho) | 984 |
| L00000069 | G2C | Homo sapiens | BAYES-COLLINS-HUMAN-PSD-FULL | Human cortex biopsy PSD full list | 1461 |
| L00000071 | G2C | Homo sapiens | BAYES-COLLINS-MOUSE-PSD-FULL | Mouse cortex PSD full list (ortho) | 1556 |