UniProt | Protein Name |
---|---|
Q9H9S5 |
|
GO Term | Evidence Code | PMID |
---|---|---|
creatine metabolic process | ||
neuron migration | ||
brain development | ||
oxygen metabolic process | ||
response to xenobiotic stimulus |
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:0110634 | congenital muscular dystrophy 1B | |
DOID:0110635 | muscular dystrophy-dystroglycanopathy type B5 | |
DOID:540 | strabismus | |
DOID:0110636 | congenital merosin-deficient muscular dystrophy 1A | |
DOID:0110637 | muscular dystrophy-dystroglycanopathy type B6 | |
DOID:0110639 | congenital muscular dystrophy due to integrin alpha-7 deficiency | |
DOID:0110640 | congenital muscular dystrophy due to LMNA mutation | |
DOID:0110741 | type 1 diabetes mellitus 2 | |
DOID:0110742 | type 1 diabetes mellitus 3 | |
DOID:0110743 | type 1 diabetes mellitus 4 |
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