UniProt | Protein Name |
---|---|
Q6YHK3 |
|
GO Term | Evidence Code | PMID |
---|---|---|
negative regulation of protein phosphorylation | ||
negative regulation of keratinocyte proliferation | ||
negative regulation of transforming growth factor beta receptor signaling pathway | ||
regulation of keratinocyte differentiation | ||
negative regulation of wound healing |
GO Term | Evidence Code | PMID |
---|---|---|
side of membrane | ||
platelet alpha granule membrane |
|
GO Term | Evidence Code | PMID |
---|---|---|
serine-type endopeptidase inhibitor activity | ||
transforming growth factor beta binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0110504 | autosomal recessive nonsyndromic deafness 47 | |
DOID:0110505 | autosomal recessive nonsyndromic deafness 48 | |
DOID:0110506 | autosomal recessive nonsyndromic deafness 49 | |
DOID:0110507 | autosomal recessive nonsyndromic deafness 5 | |
DOID:0110508 | autosomal recessive nonsyndromic deafness 51 | |
DOID:0110509 | autosomal recessive nonsyndromic deafness 53 | |
DOID:0110510 | autosomal recessive nonsyndromic deafness 55 | |
DOID:0110511 | autosomal recessive nonsyndromic deafness 59 | |
DOID:0110512 | autosomal recessive nonsyndromic deafness 6 | |
DOID:0110513 | autosomal recessive nonsyndromic deafness 61 |
HPO ID | HPO Term |
---|---|
HP:0000618 | Blindness |
HP:0000707 | Abnormality of the nervous system |
HP:0000790 | Hematuria |
HP:0000967 | Petechiae |
HP:0000979 | Purpura |
HP:0001263 | Global developmental delay |
HP:0001892 | Abnormal bleeding |
HP:0002138 | Subarachnoid hemorrhage |
HP:0002170 | Intracranial hemorrhage |
HP:0002239 | Gastrointestinal hemorrhage |
Disease ID | Disease Name |
---|---|
ORPHA:853 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
101017469 | PAPAN34668 | ||
105544568 | MANLE17717 | ||
101147954 | GORGO36396 | ||
100977073 | PANPA34746 | ||
462825 | PANTR38554 | ||
100460741 | PONAB31646 | ||
474970 | CANLF02917 | ||
101674015 | MUSPF05629 | ||
101098303 | FELCA12575 | ||
122220094 | PANLE16191 |
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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