UniProt | Protein Name |
---|---|
Q9H9S5 |
|
GO Term | Evidence Code | PMID |
---|---|---|
reproductive process | ||
muscle contraction | ||
protein processing |
GO Term | Evidence Code | PMID |
---|---|---|
cytosol | ||
extracellular space | ||
sarcolemma | ||
Golgi apparatus | ||
skeletal muscle myofibril |
GO Term | Evidence Code | PMID |
---|---|---|
identical protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Species | Protein | mRNA |
---|---|---|
Rattus norvegicus | NP_001020849 | NM_001025678 |
Drosophila melanogaster | NP_611531 | NM_137687 |
Mus musculus | NP_775606 | NM_173430 |
DO ID | Disease Name | Source |
---|---|---|
DOID:0050453 | lissencephaly | |
DOID:0050463 | campomelic dysplasia | |
DOID:0050557 | congenital muscular dystrophy | |
DOID:0050559 | Fukuyama congenital muscular dystrophy | |
DOID:0050560 | Walker-Warburg syndrome | |
DOID:0050572 | cone-rod dystrophy | |
DOID:0080033 | craniometaphyseal dysplasia | |
DOID:0080092 | myofibrillar myopathy 1 | |
DOID:0080094 | myofibrillar myopathy 3 | |
DOID:0080102 | congenital myopathy 4A |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000028 | Cryptorchidism |
HP:0000050 | Hypoplastic male external genitalia |
HP:0000054 | Micropenis |
HP:0000110 | Renal dysplasia |
HP:0000158 | Macroglossia |
HP:0000175 | Cleft palate |
HP:0000176 | Submucous cleft hard palate |
HP:0000193 | Bifid uvula |
HP:0000204 | Cleft upper lip |
Disease ID | Disease Name |
---|---|
ORPHA:370980 |
|
ORPHA:34515 |
|
OMIM:606612 |
|
ORPHA:899 |
|
ORPHA:370968 |
|
OMIM:236670 |
|
ORPHA:370959 |
|
OMIM:607155 |
|
OMIM:613153 |
|
ORPHA:588 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100016806 | MONDO25192 | ||
102456705 | PELSI03969 | ||
100563173 | ANOCA12746 | ||
113876305 | BOBOX11727 | ||
100942757 | OTOGA03840 | ||
101072335 | TAKRU04230 | ||
102017286 | CHILA24569 | ||
105713085 | AOTNA29118 | ||
110202395 | PHACI28632 | ||
101031020 | SAIBB33076 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024