UniProt | Protein Name |
---|---|
Q86X52 |
|
GO Term | Evidence Code | PMID |
---|---|---|
proximal/distal pattern formation | ||
negative regulation of ossification | ||
bone morphogenesis |
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:0110573 | autosomal dominant nonsyndromic deafness 4A | |
DOID:0110574 | autosomal dominant nonsyndromic deafness 4B | |
DOID:0110575 | autosomal dominant nonsyndromic deafness 5 | |
DOID:0110576 | autosomal dominant nonsyndromic deafness 50 | |
DOID:0110577 | autosomal dominant nonsyndromic deafness 51 | |
DOID:0110578 | autosomal dominant nonsyndromic deafness 52 | |
DOID:0110579 | autosomal dominant nonsyndromic deafness 53 | |
DOID:0110580 | autosomal dominant nonsyndromic deafness 54 | |
DOID:0110581 | autosomal dominant nonsyndromic deafness 56 | |
DOID:0110582 | autosomal dominant nonsyndromic deafness 58 |
HPO ID | HPO Term |
---|---|
HP:0001159 | Syndactyly |
HP:0001234 | Hitchhiker thumb |
HP:0001249 | Intellectual disability |
HP:0001263 | Global developmental delay |
HP:0001328 | Specific learning disability |
HP:0001357 | Plagiocephaly |
HP:0001510 | Growth delay |
HP:0001566 | Widely-spaced maxillary central incisors |
HP:0001773 | Short foot |
HP:0001999 | Abnormal facial shape |
Disease ID | Disease Name |
---|---|
OMIM:605282 |
|
ORPHA:363417 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
172851 | WB:WBGene00005023 | ||
32497 | FB:FBgn0030662 | ||
103187742 | CALMI03867 | ||
102366930 | LATCH17613 | ||
324407 | ZFIN:ZDB-GENE-030131-3127 | DANRE40590 | |
103047541 | ASTMX12403 | ||
108271046 | ICTPU01170 | ||
113573950 | ELEEL14290 | ||
115166859 | SALTR83193 | ||
115203464 | SALTR79387 |
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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