UniProt | Protein Name |
---|---|
Q86X52 |
|
GO Term | Evidence Code | PMID |
---|---|---|
sulfation | ||
chondroitin sulfate biosynthetic process | ||
chondrocyte development | ||
positive regulation of smoothened signaling pathway | ||
response to nutrient levels |
GO Term | Evidence Code | PMID |
---|---|---|
extracellular region | ||
membrane | ||
Golgi cisterna membrane | ||
Golgi membrane |
GO Term | Evidence Code | PMID |
---|---|---|
glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity | ||
N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity | ||
metal ion binding |
Species | Protein | mRNA |
---|---|---|
Rattus norvegicus | XP_218759 | XM_218759 |
Drosophila melanogaster | NP_996440 | NM_206717 |
Caenorhabditis elegans | BAC76780 | AB088397 |
Mus musculus | XP_194358 | XM_194358 |
DO ID | Disease Name | Source |
---|---|---|
DOID:0110553 | autosomal dominant nonsyndromic deafness 23 | |
DOID:0110554 | autosomal dominant nonsyndromic deafness 24 | |
DOID:0110555 | autosomal dominant nonsyndromic deafness 25 | |
DOID:0110556 | autosomal dominant nonsyndromic deafness 27 | |
DOID:0110557 | autosomal dominant nonsyndromic deafness 28 | |
DOID:0110558 | autosomal dominant nonsyndromic deafness 2A | |
DOID:0110559 | autosomal dominant nonsyndromic deafness 2B | |
DOID:0110560 | autosomal dominant nonsyndromic deafness 30 | |
DOID:0110561 | autosomal dominant nonsyndromic deafness 31 | |
DOID:0110562 | autosomal dominant nonsyndromic deafness 33 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000160 | Narrow mouth |
HP:0000164 | Abnormality of the dentition |
HP:0000175 | Cleft palate |
HP:0000311 | Round face |
HP:0000316 | Hypertelorism |
HP:0000327 | Hypoplasia of the maxilla |
HP:0000347 | Micrognathia |
HP:0000369 | Low-set ears |
HP:0000517 | Abnormal lens morphology |
Disease ID | Disease Name |
---|---|
OMIM:605282 |
|
ORPHA:363417 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
114583955 | PODMU02555 | ||
107553812 | SINGR49310 | ||
107562679 | SINGR14049 | ||
106839479 | EQUAS12875 | ||
116816659 | CHEAB03730 | ||
115041583 | ECHNA23204 | ||
115388945 | SALFA54482 | ||
113484080 | ATHCN14150 | ||
109056738 | CYPCA06829 | ||
109088690 | CYPCA11774 |
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Last updated: August 19, 2024