ASB10 (ankyrin repeat and SOCS box containing 10)

2014-11-01  

Identity

HGNC
LOCATION
7q36.1
LOCUSID
ALIAS
GLC1F

Other Information

Locus ID:

NCBI: 136371
MIM: 615054
HGNC: 17185
Ensembl: ENSG00000146926

Variants:

dbSNP: 136371
ClinVar: 136371
TCGA: ENSG00000146926
COSMIC: ASB10

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000146926ENST00000275838Q8WXI3
ENSG00000146926ENST00000275838A0A090N8I2
ENSG00000146926ENST00000377867Q8WXI3
ENSG00000146926ENST00000415615F8WB38
ENSG00000146926ENST00000420175Q8WXI3

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradationREACTOMER-HSA-983168

References

Pubmed IDYearTitleCitations
221565762012Variants in ASB10 are associated with open-angle glaucoma.33
239012482013Ankyrin repeat and suppressor of cytokine signaling box containing protein-10 is associated with ubiquitin-mediated degradation pathways in trabecular meshwork cells.16
227986262012Analysis of ASB10 variants in open angle glaucoma.12
203094022010Analysis of microsatellite polymorphisms within the GLC1F locus in Japanese patients with normal tension glaucoma.5
203094022010Analysis of microsatellite polymorphisms within the GLC1F locus in Japanese patients with normal tension glaucoma.5
267134512015Variants in the ASB10 Gene Are Associated with Primary Open Angle Glaucoma.3

Citation

Dessen P

ASB10 (ankyrin repeat and SOCS box containing 10)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60549/asb10-(ankyrin-repeat-and-socs-box-containing-10)