ASB10 (ankyrin repeat and SOCS box containing 10)

Gene

• Entrez ID: 136371
• Gene name: Ankyrin repeat and SOCS box containing 10
• Gene symbol: ASB10
• Synonyms (NCBI Gene): GLC1F
• Chromosome: 7
• Chromosome location: 7q36.1
• Summary: The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. The SOCS box serves to couple suppressor of cytokine signaling (SOCS) proteins and their binding partners with the elongin B and C complex

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104886474	C>G	Pathogenic	Missense variant, coding sequence variant
rs104886478	G>A	Pathogenic	Synonymous variant, coding sequence variant
rs104886488	C>T	Likely-benign, pathogenic	Missense variant, intron variant, coding sequence variant
rs151344606	G>T	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT801862	hsa-miR-1270	CLIP-seq
MIRT801863	hsa-miR-155	CLIP-seq
MIRT801864	hsa-miR-4683	CLIP-seq
MIRT801865	hsa-miR-620	CLIP-seq
MIRT2176550	hsa-miR-4438	CLIP-seq
MIRT2176551	hsa-miR-507	CLIP-seq
MIRT2176552	hsa-miR-557	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IDA	22156576
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	22156576
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0016567	Process	Protein ubiquitination	IEA
GO:0035556	Process	Intracellular signal transduction	IEA

Other IDs

• MIM: 615054
• HGNC: 17185
• e!Ensembl: ENSG00000146926

Protein

• UniProt ID: Q8WXI3
• Protein name: Ankyrin repeat and SOCS box protein 10 (ASB-10)
• Protein function: May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12796	Ank_2	101 → 178	Ankyrin repeats (3 copies)	Repeat
  PF13637	Ank_4	116 → 168		Repeat
  PF12796	Ank_2	162 → 245	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	185 → 265	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	266 → 361	Ankyrin repeats (3 copies)	Repeat
  PF07525	SOCS_box	422 → 460	SOCS box	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the eye. The highest expression is observed in the iris, with moderate levels in the trabecular meshwork (TM), the lamina, and the optic nerve; slightly lower levels in the ciliary body, retina, and choroid; and very low l
• Sequence:

  MLMSWSPEECKGQGEPLDDRHPLCARLVEKPSRGSEEHLKSGPGPIVTRTASGPALAFWQ
  AVLAGDVGCVSRILADSSTGLAPDSVFDTSDPERWRDFRFNIRALRLWSLTYEEELTTPL
  HVAASRGHTEVLRLLLRRRARPDSAPGGRTALHEACAAGHTACVHVLLVAGADPNIADQD
  GKRPLHLCRGPGTLECAELLLRFGARVDGRSEEEEETPLHVAARLGHVELADLLLRRGAC
  PDARNAEGWTPLLAACDVRCQSITDAEATTARCLQLCSLLLSAGADADAADQDKQRPLHL
  ACRRGHAAVVELLLSCGVSANTMDYGGHTPLHCALQGPAAALAQSPEHVVRALLNHGAVR
  VWPGALPKVLERWSTCPRTIEVLMNTYSVVQLPEEAVGLVTPETLQKHQRFYSSLFALVR
  QPRSLQHLSRCALRSHLEGSLPQALPRLPLPPRLLRYLQLDFEGVLY

• Sequence length: 467

Pathways

Reactome:

Neddylation
Antigen processing: Ubiquitination & Proteasome degradation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASB10-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma 1, open angle, F	Benign; Likely benign; Uncertain significance; not provided	ClinVar CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Glaucoma	Glaucoma	BEFREE	22156576, 26713451, 27296073		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	22156576	Associate	★☆☆☆☆ Found in Text Mining only
GLAUCOMA 1, OPEN ANGLE, F (disorder)	Glaucoma	UNIPROT_DG	22156576		★☆☆☆☆ Found in Text Mining only
GLAUCOMA 1, OPEN ANGLE, F (disorder)	Glaucoma	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
GLAUCOMA 1, OPEN ANGLE, F (disorder)	Glaucoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
GLAUCOMA 1, OPEN ANGLE, F (disorder)	Glaucoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	22156576, 22798626, 23901248	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	BEFREE	22156576, 22798626		★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	10037570, 11436127, 15073581, 17210857, 22156576, 22798626, 26713451, 27296073		★☆☆☆☆ Found in Text Mining only
Low Tension Glaucoma	Low Tension Glaucoma	BEFREE	20309402, 31522561		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Primary adult open-angle glaucoma	Open Angle Glaucoma	Orphanet			★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only