Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

Show/Hide all (4)

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

Show/Hide all (7)

miRTarBase ID	miRNA	Experiments
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

Show/Hide all (9)

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

MIM	HGNC	e!Ensembl
615054	17185	ENSG00000146926

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

Interactions

View interactions

	Reactome
			Neddylation Antigen processing: Ubiquitination & Proteasome degradation

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
ASB10-related disorder	Benign; Likely benign	rs10275136, rs73727103, rs144038078, rs144099189, rs188107926, rs1280598642, rs104886474, rs61628535	RCV003975819 RCV003956366 RCV003968774 RCV003981662 RCV003961589 RCV003931385 RCV003915009 RCV003932858
Glaucoma 1, open angle, F	Benign; Likely benign; Uncertain significance; not provided	rs104886489, rs104886490, rs104886483, rs104886484, rs104886485, rs104886466, rs104886467, rs104886486, rs104886487, rs104886468, rs104886469, rs77615410, rs104886470, rs104886471, rs104886472 View all (37 more)	RCV000086394 RCV000086395 RCV000086396 RCV000086397 RCV000086398 RCV000086399 RCV000086400 RCV000086401 RCV000086402 RCV000086403 RCV000086404 RCV000086405 RCV000086406 RCV000086407 RCV000086408 RCV000086409 RCV000086410 RCV000086411 RCV000086412 RCV000086413 RCV000086414 RCV000086415 RCV000086416 RCV000086417 RCV000086418 RCV000086419 RCV000086420 RCV000086421 RCV000086422 RCV000086423 RCV000086424 RCV000086425 RCV000086426 RCV000086427 RCV000086428 RCV000086429 RCV000086430 RCV000086431 RCV000086432 RCV000086433 RCV000086434 RCV000086435 RCV000086436 RCV000086437 RCV000086438 RCV000086439 RCV000086440 RCV004584583 RCV000043656 RCV000043657 RCV000043658 RCV000043659 RCV002479120

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Embolic Stroke	Associate	26355258
Glaucoma	Associate	22156576
Glaucoma Open Angle	Associate	22156576, 22798626, 23901248
Low Tension Glaucoma	Associate	20309402

ASB10 (ankyrin repeat and SOCS box containing 10)