UniProt | Protein Name |
---|---|
Q6YHK3 |
|
GO Term | Evidence Code | PMID |
---|---|---|
keratinocyte proliferation | ||
negative regulation of stem cell proliferation | ||
osteoclast fusion | ||
hair follicle development | ||
stem cell proliferation |
GO Term | Evidence Code | PMID |
---|---|---|
cytosol | ||
extracellular region |
|
|
cell surface | ||
plasma membrane | ||
extracellular space |
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:0110464 | autosomal recessive nonsyndromic deafness 103 | |
DOID:0110465 | autosomal recessive nonsyndromic deafness 104 | |
DOID:0110466 | obsolete autosomal recessive nonsyndromic deafness 105 | |
DOID:0110467 | autosomal recessive nonsyndromic deafness 12 | |
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 |
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