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:0110518 | autosomal recessive nonsyndromic deafness 67 | |
DOID:0110519 | autosomal recessive nonsyndromic deafness 68 | |
DOID:0110520 | autosomal recessive nonsyndromic deafness 7 | |
DOID:0110521 | autosomal recessive nonsyndromic deafness 70 | |
DOID:0110522 | autosomal recessive nonsyndromic deafness 71 | |
DOID:0110523 | autosomal recessive nonsyndromic deafness 74 | |
DOID:0110524 | autosomal recessive nonsyndromic deafness 76 | |
DOID:0110525 | autosomal recessive nonsyndromic deafness 77 | |
DOID:0110526 | autosomal recessive nonsyndromic deafness 79 | |
DOID:0110527 | autosomal recessive nonsyndromic deafness 8 |
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 |
---|---|---|---|
103816669 | SERCA09827 | ||
100075069 | ORNAN02776 | ||
100916777 | SARHA18260 | ||
100414252 | CALJA21696 | ||
105589455 | CERAT00997 | ||
101925621 | MACFA25329 | ||
712103 | MACMU27340 | ||
105491545 | MACNE07627 | ||
101006069 | PAPAN15334 | ||
105537217 | MANLE05506 |
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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