UniProt | Protein Name |
---|---|
P98161 |
|
GO Term | Evidence Code | PMID |
---|---|---|
detection of mechanical stimulus | ||
calcium ion transmembrane transport | ||
lung epithelium development | ||
positive regulation of transcription by RNA polymerase II | ||
positive regulation of cytosolic calcium ion concentration |
GO Term | Evidence Code | PMID |
---|---|---|
monoatomic cation channel activity | ||
calcium channel activity | ||
transcription regulator inhibitor activity | ||
Wnt receptor activity | ||
protein kinase binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0110029 | alpha thalassemia-intellectual disability syndrome type 1 | |
DOID:0110030 | alpha thalassemia-X-linked intellectual disability syndrome | |
DOID:0110031 | hemoglobin H disease | |
DOID:0110307 | hypertrophic cardiomyopathy 1 | |
DOID:0110720 | neuronal ceroid lipofuscinosis 4 | |
DOID:0110721 | neuronal ceroid lipofuscinosis 1 | |
DOID:0110722 | neuronal ceroid lipofuscinosis 7 | |
DOID:0110723 | neuronal ceroid lipofuscinosis 8 | |
DOID:11612 | polycystic ovary syndrome | |
DOID:0110724 | neuronal ceroid lipofuscinosis 8 northern epilepsy variant |
HPO ID | HPO Term |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0000010 | Recurrent urinary tract infections |
HP:0000083 | Renal insufficiency |
HP:0000105 | Enlarged kidney |
HP:0000107 | Renal cyst |
HP:0000113 | Polycystic kidney dysplasia |
HP:0000790 | Hematuria |
HP:0000791 | Uric acid nephrolithiasis |
HP:0000822 | Hypertension |
HP:0001407 | Hepatic cysts |
Disease ID | Disease Name |
---|---|
OMIM:173900 |
|
ORPHA:730 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
103189894 | CALMI42505 | ||
102346103 | LATCH15560 | ||
102698500 | LEPOC03659 | ||
100149562 | ZFIN:ZDB-GENE-100707-1 | DANRE18519 | |
565697 | ZFIN:ZDB-GENE-100707-2 | ||
108258414 | ICTPU21515 | ||
733339 | Xenbase:XB-GENE-483413 | ||
100494429 | Xenbase:XB-GENE-483409 | ||
109314618 | CROPO22953 | ||
100550252 | MELGA04487 |
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Last updated: August 19, 2024