UniProt | Protein Name |
---|---|
P19099 |
|
GO Term | Evidence Code | PMID |
---|---|---|
cellular response to peptide hormone stimulus | ||
sodium ion homeostasis | ||
cellular response to potassium ion | ||
potassium ion homeostasis | ||
sterol metabolic process |
|
GO Term | Evidence Code | PMID |
---|---|---|
mitochondrial inner membrane | ||
mitochondrion |
GO Term | Evidence Code | PMID |
---|---|---|
steroid 11-beta-monooxygenase activity | ||
corticosterone 18-monooxygenase activity | ||
steroid hydroxylase activity |
|
|
iron ion binding | ||
heme binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0014667 | disease of metabolism | |
DOID:0050459 | hyperphosphatemia | |
DOID:0050477 | Liddle syndrome | |
DOID:0050700 | cardiomyopathy | |
DOID:0050811 | congenital adrenal hyperplasia | |
DOID:0050891 | adrenal cortical adenoma | |
DOID:0060041 | autism spectrum disorder | |
DOID:0060224 | atrial fibrillation | |
DOID:0060731 | congenital central hypoventilation syndrome | |
DOID:0080326 | familial hypertrophic cardiomyopathy |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000127 | Renal salt wasting |
HP:0000360 | Tinnitus |
HP:0000421 | Epistaxis |
HP:0000811 | Abnormal external genitalia |
HP:0000822 | Hypertension |
HP:0000848 | Increased circulating renin level |
HP:0001278 | Orthostatic hypotension |
HP:0001290 | Generalized hypotonia |
HP:0001324 | Muscle weakness |
Disease ID | Disease Name |
---|---|
OMIM:610600 |
|
OMIM:203400 |
|
ORPHA:556030 |
|
ORPHA:403 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
791124 | ZFIN:ZDB-GENE-070828-1 | ||
113574779 | ELEEL16006 | ||
100533461 | ORENI07604 | ||
115567999 | SPAAU59690 | ||
100082065 | ORNAN20967 | ||
100930767 | SARHA11406 | ||
100415304 | CALJA13590 | ||
100415667 | CALJA13590 | ||
695914 | MACMU43723 | ||
105536288 | MANLE24479 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024