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: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 | |
DOID:0110563 | autosomal dominant nonsyndromic deafness 36 | |
DOID:0110564 | autosomal dominant nonsyndromic deafness 3A | |
DOID:0110565 | autosomal dominant nonsyndromic deafness 3B | |
DOID:0110566 | autosomal dominant nonsyndromic deafness 40 | |
DOID:0110567 | autosomal dominant nonsyndromic deafness 41 |
HPO ID | HPO Term |
---|---|
HP:0001433 | Hepatosplenomegaly |
HP:0001508 | Failure to thrive |
HP:0001510 | Growth delay |
HP:0001511 | Intrauterine growth retardation |
HP:0001531 | Failure to thrive in infancy |
HP:0001744 | Splenomegaly |
HP:0001762 | Talipes equinovarus |
HP:0001873 | Thrombocytopenia |
HP:0001875 | Neutropenia |
HP:0001999 | Abnormal facial shape |
Disease ID | Disease Name |
---|---|
ORPHA:85172 |
|
OMIM:613489 |
|
ORPHA:263501 |
|
OMIM:618150 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
117034521 | RHIFE01038 | ||
100231422 | TAEGU03138 | ||
101809066 | FICAL04614 | ||
103233161 | CHLSB14782 | ||
108527444 | RHIBE01785 | ||
104677819 | RHIRO12352 | ||
114601863 | PODMU33298 | ||
107586011 | SINGR18977 | ||
107593196 | SINGR06678 | ||
106823441 | EQUAS14491 |
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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