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ASB18 Gene

protein-coding   GIFtS: 39
GCID: GC02M237102

Ankyrin Repeat And SOCS Box Containing 18

(Previous name: ankyrin repeat and SOCS box-containing 18)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ankyrin Repeat And SOCS Box Containing 181 2
Ankyrin Repeat And SOCS Box-Containing 181 2
ASB-182 3
Ankyrin Repeat And SOCS Box Protein 182

External Ids:    HGNC: 197701   Entrez Gene: 4010362   Ensembl: ENSG000001821777   UniProtKB: Q6ZVZ83   

Export aliases for ASB18 gene to outside databases

Previous GC identifers: GC02U900024 GC02M237388 GC02M236884 GC02M236766 GC02M228898


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ASB18 Gene:
ASB18 (ankyrin repeat and SOCS box containing 18) is a protein-coding gene. An important paralog of this gene is ASB16.

UniProtKB/Swiss-Prot: ASB18_HUMAN, Q6ZVZ8
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 (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the ASB18 gene promoter:
         MEF-2   POU3F2   YY1   Gfi-1   MEF-2A   AREB6   POU2F1   Cart-1   aMEF-2   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidASB18 promoter sequence
   Search Chromatin IP Primers for ASB18

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ASB18


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q37.2   Ensembl cytogenetic band:  2q37.2   HGNC cytogenetic band: 2q37.2

ASB18 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ASB18 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M237102:  view genomic region     (about GC identifiers)

Start:
237,102,095 bp from pter      End:
237,173,052 bp from pter
Size:
70,958 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ASB18_HUMAN, Q6ZVZ8 (See protein sequence)
Recommended Name: Ankyrin repeat and SOCS box protein 18  
Size: 466 amino acids; 50803 Da
Sequence caution: Sequence=BAC85710.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice
sites;
Secondary accessions: B6ZDL7
Alternative splicing: 2 isoforms:  Q6ZVZ8-1   Q6ZVZ8-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ASB18: NX_Q6ZVZ8

Explore proteomics data for ASB18 at MOPED


See ASB18 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_997721.2  
ENSEMBL proteins: 
 ENSP00000386532   ENSP00000411434   ENSP00000410021   ENSP00000329970  
Reactome Protein details: Q6ZVZ8

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
ANKRD: Ankyrin repeat domain containing

3 InterPro protein domains:
 IPR002110 Ankyrin_rpt
 IPR001496 SOCS_C
 IPR020683 Ankyrin_rpt-contain_dom

Graphical View of Domain Structure for InterPro Entry Q6ZVZ8

ProtoNet protein and cluster: Q6ZVZ8

1 Blocks protein domain: IPB002110 Ankyrin repeat signature

UniProtKB/Swiss-Prot: ASB18_HUMAN, Q6ZVZ8
Domain: The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different
E3 ubiquitin-protein ligase complexes (By similarity)
Similarity: Contains 6 ANK repeats
Similarity: Contains 1 SOCS box domain


Find genes that share domains with ASB18           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: ASB18_HUMAN, Q6ZVZ8
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 (By similarity)

     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----
     
Find genes that share ontologies with ASB18           About GenesLikeMe


Phenotypes:
     1 GenomeRNAi human phenotype for ASB18:
 Increased cell death HMECs cel 

Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol3
nucleus2
mitochondrion1
plasma membrane1

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for ASB18 About    
See pathways by source

SuperPathContained pathways About
1Class I MHC mediated antigen processing and presentation
Class I MHC mediated antigen processing and presentation0.84
Adaptive Immune System0.41
Antigen processing- Ubiquitination and Proteasome degradation0.84


Find genes that share SuperPaths with ASB18           About GenesLikeMe

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


1 Reactome Pathway for ASB18
    Antigen processing: Ubiquitination & Proteasome degradation


UniProtKB/Swiss-Prot: ASB18_HUMAN, Q6ZVZ8
Pathway: Protein modification; protein ubiquitination

    Pathway & Disease-focused RT2 Profiler PCR Array including ASB18: 

          Ubiquitin Ligases in human mouse rat

Interactions:

    Search GeneGlobe Interaction Network for ASB18

Gene Ontology (GO): 2 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016567protein ubiquitination IEA--
GO:0035556intracellular signal transduction IEA--

Find genes that share ontologies with ASB18           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for ASB18



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for ASB18 gene: 
NM_212556.2  

Unigene Cluster for ASB18:

Ankyrin repeat and SOCS box containing 18
Hs.639909  [show with all ESTs]
Unigene Representative Sequence: BX647589
6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000409749(uc010znh.2) ENST00000447030 ENST00000430053 ENST00000487961
ENST00000469508 ENST00000330842(uc010fyp.1)
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Additional mRNA sequence: BX647589.1 

2 DOTS entries:

DT.101974863  DT.40229074 

2 AceView cDNA sequences:

AK123854 NM_212556 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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ASB18 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
ASB18 Expression
About this image

ASB18 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

ASB18 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.639909
    Pathway & Disease-focused RT2 Profiler PCR Array including ASB18: 
          Ubiquitin Ligases in human mouse rat

Primer
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASB18

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for ASB18 gene from Selected species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Asb181 , 5 ankyrin repeat and SOCS box-containing 181, 5 80.86(n)1
80(a)1
  1 (45.06 cM)5
2083721  NM_139152.11  NP_631891.11 
 899526785 
chicken
(Gallus gallus)
Aves ASB181 ankyrin repeat and SOCS box containing 18 65.02(n)
59.36(a)
  424022  XM_421879.3  XP_421879.3 
lizard
(Anolis carolinensis)
Reptilia ASB186
ankyrin repeat and SOCS box containing 18
57(a)
1 ↔ 1
1(119878785-119923750)
tropical clawed frog
(Xenopus tropicalis)
Amphibia LOC1004885461 ankyrin repeat and SOCS box protein 18-like 53.69(n)
46.39(a)
  100488546  XM_002932020.2  XP_002932066.2 
zebrafish
(Danio rerio)
Actinopterygii LOC7927461 ankyrin repeat and SOCS box protein 18-like 52.9(n)
51.21(a)
  792746  XM_005167620.1  XP_005167677.1 


ENSEMBL Gene Tree for ASB18 (if available)
TreeFam Gene Tree for ASB18 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for ASB18 gene
ASB162  ASB42  ASB102  
4 SIMAP similar genes for ASB18 using alignment to 3 protein entries:     ASB18_HUMAN (see all proteins):
ASB16    ASB10    ASB4    ANKRD54

Find genes that share paralogs with ASB18           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for ASB18 (see all 1518)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1135386611,2
C--236531629(+) TTAACTTATTA/-
        
TTATT
1 -- int11Minor allele frequency- -:0.50CSA 2
rs102113551,2
C,F--237103030(+) atttcA/Catctt 1 -- ds50012Minor allele frequency- C:0.09WA NA 238
rs1868599861,2
C--237103053(+) TGTATC/TGGTCT 1 -- ds50010--------
rs1922591291,2
--237103123(+) TGTTTA/GTATCA 1 -- ds50010--------
rs1142983801,2
F--237103148(+) AACTGG/ACATTG 1 -- ds50011Minor allele frequency- A:0.01WA 118
rs1149535751,2
C,F--237103206(+) CCTTAA/CGTGAG 1 -- ds50011Minor allele frequency- C:0.03WA 118
rs101993981,2
C,F--237103223(+) CTGTAC/TCTTTT 1 -- ds5001 ese34Minor allele frequency- T:0.14NA WA 242
rs731159271,2
C--237103472(+) GGAAGG/ATCAGC 1 -- ds50013Minor allele frequency- A:0.07WA NA 240
rs767781761,2
C,F--237103512(+) TCTGCG/ATTTCA 1 -- ds50011Minor allele frequency- A:0.03WA 118
rs590983471,2
C,F--237103530(+) ACACCC/TTGTGG 2 Q syn15Minor allele frequency- T:0.06WA CSA EU 693

HapMap Linkage Disequilibrium report for ASB18 (237102095 - 237173052 bp)

Structural Variations
     Database of Genomic Variants (DGV) 7 variations for ASB18:    About this table    
Variant IDTypeSubtypePubMed ID
esv2721701CNV Deletion23290073
nsv214473CNV Loss16902084
esv33938CNV Loss17666407
nsv460143CNV Loss19166990
nsv821923CNV Gain20364138
nsv821922CNV Gain20364138
dgv4457n71CNV Gain21882294

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing ASB18
DNA2.0 Custom Variant and Variant Library Synthesis for ASB18

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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Find genes that share disorders with ASB18           About GenesLikeMe

Genetic Association Database (GAD): ASB18

Export disorders for ASB18 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for ASB18 gene integrated from 10 sources:
(articles sorted by number of sources associating them with ASB18)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Genome-wide association of lipid-lowering response to statins in combined study populations. (PubMed id 20339536)1, 4 Barber M.J....Krauss R.M. (PLoS ONE 2010)
  2. The SOCS box: a tale of destruction and degradation. (PubMed id 12076535)1, 3 Kile B.T....Hilton D.J. (Trends Biochem. Sci. 2002)
  3. GWAS of 126,559 individuals identifies genetic variants associated with educational attainment. (PubMed id 23722424)1 Rietveld C.A....Koellinger P.D. (Science 2013)
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
  5. ASB proteins interact with cullin5 and Rbx2 to form E3 ubiquitin ligase complexes. (PubMed id 16325183)1 Kohroki J.... Masuho Y. (FEBS Lett. 2005)
  6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 401036 HGNC: 19770 AceView: ASB18 Ensembl:ENSG00000182177 euGenes: HUgn401036
ECgene: ASB18 H-InvDB: ASB18

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for ASB18 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for ASB18 gene:
Search GeneIP for patents involving ASB18

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 Block miRNA regulation of human, mouse, rat ASB18 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing ASB18
 DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ASB18 Predesigned siRNA for gene silencing in human, mouse, rat ASB18
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 PCR Arrays including human, mouse, rat ASB18 Search Chromatin IP Primers for ASB18
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 Regulatory tfbs in ASB18 promoter
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 Browse Sino Biological Proteins
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 Protein Production Services
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 Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

 Novus Biologicals
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 Search for Antibodies for ASB18 at Abcam
 See all of Abcam's Antibodies, Kits and Proteins for ASB18
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 Browse ESI BIO Cell Lines and PureStem Progenitors for ASB18
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 Search ThermoFisher Antibodies for ASB18
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASB18
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ASB18
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ASB18
 Search LSBio for Antibodies for ASB18
 Browse compounds at ApexBio
 Search Addgene for plasmids for ASB18
  Search eBioscience for proteins for ASB18
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Customized transgenic rodents for:
 Humanization
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 antibodies-online antibodies for ASB18
 antibodies-online kits for ASB18 (4 products)
 antibodies-online peptides for ASB18
 antibodies-online proteins for ASB18 (2 products)
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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