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:0000006 | Autosomal dominant inheritance |
HP:0000007 | Autosomal recessive inheritance |
HP:0000252 | Microcephaly |
HP:0000260 | Wide anterior fontanel |
HP:0000272 | Malar flattening |
HP:0000340 | Sloping forehead |
HP:0000347 | Micrognathia |
HP:0000365 | Hearing impairment |
HP:0000407 | Sensorineural hearing impairment |
HP:0000444 | Convex nasal ridge |
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