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Details of SERPINH1 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| SERPINH1 | CBP1,CBP2,HSP47,SERPINH2 | P50454 | SERPH_HUMAN | 871 | ENSG00000149257 | Serpin H1 | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Osteogenesis imperfecta 10 (OI10) [MIM:613848]: A form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI10 is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclerae. Note=The disease is caused by mutations affecting the gene represented in this entry. | 610504;613848 | ||||||||
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Serpinh1 | --- | --- | --- | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| MDH2 | SERPINH1 | 0.074610007 | MDH2 | SERPINH1 | cpx303 | no | no | no | Novel |
| COTL1 | SERPINH1 | 0.058030549 | COTL1 | SERPINH1 | cpx2 | no | no | no | Novel |
| FUBP3 | SERPINH1 | 0.052369812 | FUBP3 | SERPINH1 | cpx2 | no | no | no | Novel |
| LGALS1 | SERPINH1 | 0.13040506 | LGALS1 | SERPINH1 | cpx2 | no | no | no | Novel |
| DAZAP1 | SERPINH1 | 0.305789218 | DAZAP1 | SERPINH1 | cpx2; cpx303 | no | no | no | Novel |
| SERPINH1 | TIAL1 | 0.029031353 | SERPINH1 | TIAL1 | cpx2 | no | no | no | Novel |
| SERPINH1 | UBE2L3 | 0.062161476 | SERPINH1 | UBE2L3 | cpx303 | no | yes | no | Known |