GO Term | Evidence Code | PMID |
---|---|---|
intracellular iron ion homeostasis | ||
transcription by RNA polymerase II | ||
negative regulation of transcription by RNA polymerase II | ||
protein autoprocessing | ||
activin receptor signaling pathway |
GO Term | Evidence Code | PMID |
---|---|---|
HFE-transferrin receptor complex | ||
plasma membrane | ||
BMP receptor complex | ||
side of membrane | ||
cell surface |
GO Term | Evidence Code | PMID |
---|---|---|
BMP receptor activity | ||
protein binding | ||
signaling receptor binding | ||
coreceptor activity | ||
transferrin receptor binding |
InterPro |
---|
Repulsive guidance molecule, C-terminal |
Repulsive guidance molecule, N-terminal |
Repulsive guidance molecule |
DO ID | Disease Name | Source |
---|---|---|
DOID:0111027 | hemochromatosis type 2A | |
DOID:2352 | hemochromatosis |
HPO ID | HPO Term |
---|---|
HP:0002910 | Elevated circulating hepatic transaminase concentration |
HP:0003040 | Arthropathy |
HP:0003281 | Increased circulating ferritin concentration |
HP:0003452 | Increased circulating iron concentration |
HP:0003452 | Increased serum iron |
HP:0007440 | Generalized hyperpigmentation |
HP:0011031 | Abnormality of iron homeostasis |
HP:0011462 | Young adult onset |
HP:0011675 | Arrhythmia |
HP:0012093 | Abnormality of endocrine pancreas physiology |
Disease ID | Disease Name |
---|---|
OMIM:602390 |
|
ORPHA:79230 |
|
Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|---|
101689142 | MUSPF01710 | |||
101942020 | CHRPI13094 | |||
102028911 | CHILA24349 | |||
102138915 | MACFA21393 | |||
102182747 | CAPHI22458 | |||
102367558 | LATCH16597 | |||
102434842 | MYOLU10075 | |||
103224056 | CHLSB08474 | |||
103268457 | CARSF04293 | |||
103729519 | NANGA21383 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.1.0
Last updated: December 9, 2024