UniProt | Protein Name |
---|---|
Q9H9E3 |
|
J3KNI1 |
|
Q8N8L9 |
|
A0A0A0MS45 |
|
GO Term | Evidence Code | PMID |
---|---|---|
Golgi organization | ||
retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum | ||
protein transport | ||
retrograde transport, vesicle recycling within Golgi | ||
glycosylation |
GO Term | Evidence Code | PMID |
---|---|---|
cytosol | ||
trans-Golgi network membrane |
|
|
Golgi membrane | ||
Golgi transport complex |
GO Term | Evidence Code | PMID |
---|---|---|
protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0110468 | autosomal recessive nonsyndromic deafness 13 | |
DOID:0110469 | autosomal recessive nonsyndromic deafness 14 | |
DOID:0110470 | autosomal recessive nonsyndromic deafness 15 | |
DOID:0110471 | autosomal recessive nonsyndromic deafness 16 | |
DOID:0110472 | autosomal recessive nonsyndromic deafness 17 | |
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 |
HPO ID | HPO Term |
---|---|
HP:0000446 | Narrow nasal bridge |
HP:0000518 | Cataract |
HP:0000520 | Proptosis |
HP:0000592 | Blue sclerae |
HP:0000639 | Nystagmus |
HP:0000662 | Nyctalopia |
HP:0000737 | Irritability |
HP:0000750 | Delayed speech and language development |
HP:0000767 | Pectus excavatum |
HP:0000768 | Pectus carinatum |
Disease ID | Disease Name |
---|---|
ORPHA:85172 |
|
OMIM:613489 |
|
ORPHA:263501 |
|
OMIM:618150 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100752814 | CRIGR08235 | ||
102339 | MGI:2142808 | MOUSE58222 | |
361407 | RGD:1310549 | RATNO15074 | |
100722825 | CAVPO10998 | ||
101568746 | OCTDE03462 | ||
101722634 | HETGA01604 | ||
101869843 | MELUD03616 | ||
100024504 | MONDO07881 | ||
100560090 | ANOCA12813 | ||
103673575 | URSMA21283 |
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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