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Details of CISD2 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| CISD2 | CDGSH2,ERIS,ZCD2 | Q8N5K1 | CISD2_HUMAN | 493856
| ENSG00000145354
| CDGSH iron-sulfur domain-containing protein 2 | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Wolfram syndrome 2 (WFS2) [MIM:604928]: A rare disorder characterized by juvenile-onset insulin-dependent diabetes mellitus with optic atrophy. Other manifestations include diabetes insipidus, sensorineural deafness, dementia, psychiatric illnesses. WFS2 patients additionally show a strong bleeding tendency and gastrointestinal ulceration. Diabetes insipidus may be absent. Note=The disease is caused by mutations affecting the gene represented in this entry. |
604928 |
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
|
