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ASB10 (ankyrin repeat and SOCS box containing 10)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
136371
Gene nameGene Name - the full gene name approved by the HGNC.
Ankyrin repeat and SOCS box containing 10
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ASB10
SynonymsGene synonyms aliases
GLC1F
ChromosomeChromosome number
7
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q36.1
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IDA 22156576
GO:0005737 Component Cytoplasm IDA 22156576
GO:0005829 Component Cytosol TAS
GO:0016567 Process Protein ubiquitination IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Sequence 
MLMSWSPEECKGQGEPLDDRHPLCARLVEKPSRGSEEHLKSGPGPIVTRTASGPALAFWQ
AVLAGDVGCVSRILADSSTGLAPDSVFDTSDPERWRDFRFNIRALRLWSLTYEEELTTPL
HVAASRGHTEVLRLLLRRRARPDSAPGGRTALHEACAAGHTACVHVLLVAGADPNIADQD
GKRPLHLCRGPGTLECAELLLRFGARVDGRSEEEEETPLHVAARLGHVELADLLLRRGAC
PDARNAEGWTPLLAACDVRCQSITDAEATTARCLQLCSLLLSAGADADAADQDKQRPLHL
ACRRGHAAVVELLLSCGVSANTMDYGGHTPLHCALQGPAAALAQSPEHVVRALLNHGAVR
VWPGALPKVLERWSTCPRTIEVLMNTYSVVQLPEEAVGLVTPETLQKHQRFYSSLFALVR
QPRSLQHLSRCALRSHLEGSLPQALPRLPLPPRLLRYLQLDFEGVLY
Sequence length 467
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
Reactome
    Neddylation
Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Glaucoma Glaucoma, Open-Angle, GLAUCOMA 1, OPEN ANGLE, F (disorder) rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644 22156576
Open angle glaucoma NON RARE IN EUROPE: Primary adult open-angle glaucoma rs28939688, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs137854858, rs201794655, rs750643216, rs200148764, rs139006752, rs1057519378, rs1553534421, rs774258585
Unknown
Disease name Disease term dbSNP ID References
Ocular hypertension Ocular Hypertension

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