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:0110473 | autosomal recessive nonsyndromic deafness 18A | |
DOID:0110474 | autosomal recessive nonsyndromic deafness 18B | |
DOID:0110475 | autosomal recessive nonsyndromic deafness 1A | |
DOID:0110476 | autosomal recessive nonsyndromic deafness 1B | |
DOID:0110477 | autosomal recessive nonsyndromic deafness 2 | |
DOID:0110478 | autosomal recessive nonsyndromic deafness 20 | |
DOID:0110479 | autosomal recessive nonsyndromic deafness 21 | |
DOID:0110480 | autosomal recessive nonsyndromic deafness 22 | |
DOID:0110481 | autosomal recessive nonsyndromic deafness 23 | |
DOID:0110482 | autosomal recessive nonsyndromic deafness 24 |
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 |
---|---|---|---|
102019389 | CHILA05430 | ||
105724974 | AOTNA32816 | ||
110192501 | PHACI29690 | ||
101957211 | ICTTR14410 | ||
118302304 | SCOMX26560 | ||
102420754 | MYOLU18434 | ||
117018974 | RHIFE27286 | ||
101818662 | FICAL05817 | ||
108522937 | RHIBE31860 | ||
104676811 | RHIRO24742 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024