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:0110503 | autosomal recessive nonsyndromic deafness 46 | |
DOID:0110504 | autosomal recessive nonsyndromic deafness 47 | |
DOID:0110505 | autosomal recessive nonsyndromic deafness 48 | |
DOID:0110506 | autosomal recessive nonsyndromic deafness 49 | |
DOID:0110507 | autosomal recessive nonsyndromic deafness 5 | |
DOID:0110508 | autosomal recessive nonsyndromic deafness 51 | |
DOID:0110509 | autosomal recessive nonsyndromic deafness 53 | |
DOID:0110510 | autosomal recessive nonsyndromic deafness 55 | |
DOID:0110511 | autosomal recessive nonsyndromic deafness 59 | |
DOID:0110512 | autosomal recessive nonsyndromic deafness 6 |
HPO ID | HPO Term |
---|---|
HP:0002002 | Deep philtrum |
HP:0002465 | Poor speech |
HP:0002553 | Highly arched eyebrow |
HP:0002974 | Radioulnar synostosis |
HP:0003196 | Short nose |
HP:0004209 | Clinodactyly of the 5th finger |
HP:0004279 | Short palm |
HP:0004322 | Short stature |
HP:0005037 | Proximal radio-ulnar synostosis |
HP:0006152 | Proximal symphalangism of hands |
Disease ID | Disease Name |
---|---|
OMIM:605282 |
|
ORPHA:363417 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
292999 | RGD:1311904 | RATNO18427 | |
100716479 | CAVPO06905 | ||
100020781 | MONDO08518 | ||
102459255 | PELSI13534 | ||
114035711 | VOMUR03609 | ||
113879489 | BOBOX36518 | ||
105871286 | MICMU12071 | ||
100966770 | OTOGA12837 | ||
101067591 | TAKRU00621 | ||
115251938 | TAKRU00621 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024