Aliases for ASB18 Gene
Aliases for ASB18 Gene
External Ids for ASB18 Gene
- HGNC: 19770
- Entrez Gene: 401036
- Ensembl: ENSG00000182177
- UniProtKB: Q6ZVZ8
Previous GeneCards Identifiers for ASB18 Gene
- GC02U900024
- GC02M237388
- GC02M236884
- GC02M236766
- GC02M237102
- GC02M228898
Summaries for ASB18 Gene
-
The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Feb 2017]
GeneCards Summary for ASB18 Gene
ASB18 (Ankyrin Repeat And SOCS Box Containing 18) is a Protein Coding gene. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. An important paralog of this gene is ASB10.
UniProtKB/Swiss-Prot for ASB18 Gene
-
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.
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASB18 Gene
Genomics for ASB18 Gene
Regulatory Elements for ASB18 Gene
Enhancers for ASB18 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH02G236239 | 0.9 | ENCODE dbSUPER | 20.7 | +23.9 | 23918 | 2.6 | FOXA2 TEAD4 MNT ZIC2 ZFHX2 GLIS1 EGR2 TRIM28 | ASB18 RNU1-31P GC02P236250 GC02M236211 |
| GH02G236236 | 0.5 | dbSUPER | 20.7 | +27.6 | 27630 | 1.2 | CTCF SUZ12 EZH2 | ASB18 RNU1-31P GC02P236250 GC02M236211 |
| GH02G236240 | 0.7 | ENCODE dbSUPER | 11.7 | +25.3 | 25312 | 0.0 | CBX3 ATF3 TRIM28 | ASB18 RNU1-31P GC02P236250 GC02M236211 |
| GH02G236449 | 0.6 | ENCODE | 9.8 | -185.0 | -185024 | 0.2 | ZNF687 MNT ZBTB40 MBD2 GATA3 ZFHX2 MTA1 TARDBP FOS EGR2 | IQCA1 ASB18 PIR46430 PIR37038 |
| GH02G236176 | 0.9 | ENCODE dbSUPER | 5.2 | +87.8 | 87777 | 0.2 | GATAD2A CTCF NFIA ZNF384 RAD21 ZNF664 TFDP1 IKZF1 ZNF341 ZKSCAN8 | ASB18 GBX2 RNU1-31P GC02M236211 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around ASB18 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for ASB18 Gene
- Chromosome:
- 2
- Start:
- 236,194,872 bp from pter
- End:
- 236,264,409 bp from pter
- Size:
- 69,538 bases
- Orientation:
- Minus strand
Genomic View for ASB18 Gene
Genes around ASB18 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q37.2 by Ensembl
- 2q37.2 by Entrez Gene
- 2q37.2 by HGNC
ASB18 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ASB18 Gene
Proteins for ASB18 Gene
-
Protein details for ASB18 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q6ZVZ8-ASB18_HUMAN
- Recommended name:
- Ankyrin repeat and SOCS box protein 18
- Protein Accession:
- Q6ZVZ8
- B6ZDL7
Protein attributes for ASB18 Gene
- Size:
- 466 amino acids
- Molecular mass:
- 50803 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=BAC85710.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites.; Evidence={ECO:0000305};
Protein Expression for ASB18 Gene
Post-translational modifications for ASB18 Gene
Other Protein References for ASB18 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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Protein Products
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- Search GeneTex for Proteins for ASB18
Assay Products
- antibodies-online Kits for ASB18: See all 9
No data available for DME Specific Peptides for ASB18 Gene
Domains & Families for ASB18 Gene
Gene Families for ASB18 Gene
Protein Domains for ASB18 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for ASB18 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q6ZVZ8UniProtKB/Swiss-Prot:
ASB18_HUMAN :- The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin-protein ligase complexes.
- Belongs to the ankyrin SOCS box (ASB) family.
- Domain:
-
- The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin-protein ligase complexes.
- Family:
-
- Belongs to the ankyrin SOCS box (ASB) family.
Function for ASB18 Gene
Molecular function for ASB18 Gene
- UniProtKB/Swiss-Prot 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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004842 | ubiquitin-protein transferase activity | IBA | -- |
| GO:0031625 | ubiquitin protein ligase binding | IBA | -- |
Phenotypes for ASB18 Gene
- GenomeRNAi human phenotypes for ASB18:
Animal Model Products
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for ASB18 gene
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CRISPR Products
-
OriGene CRISPR knockouts for ASB18
-
Santa Cruz Biotechnology (SCBT) CRISPR for ASB18
- GenScript: Design CRISPR guide RNA sequences for ASB18
miRNA Products
- Search ViGene Biosciences for ASB18
Inhibitory RNA Products
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Clone Products
-
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for ASB18
-
ViGene Biosciences adenoviral particle packaged cDNA for ASB18 gene
-
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ASB18 Gene
Localization for ASB18 Gene
| Compartment | Confidence |
|---|---|
| nucleus | 4 |
| cytosol | 3 |
| plasma membrane | 1 |
| mitochondrion | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000151 | ubiquitin ligase complex | IBA | -- |
| GO:0005634 | nucleus | IBA | -- |
| GO:0005737 | cytoplasm | IBA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0016020 | membrane | IEA | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for ASB18 Gene
Pathways & Interactions for ASB18 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Class I MHC mediated antigen processing and presentation | ||
| 2 | Innate Immune System |
.61
|
|
Pathways by source for ASB18 Gene
4 Reactome pathways for ASB18 Gene
UniProtKB/Swiss-Prot Q6ZVZ8-ASB18_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins for ASB18 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0016567 | protein ubiquitination | IEA | -- |
| GO:0035556 | intracellular signal transduction | IEA | -- |
| GO:0043687 | post-translational protein modification | TAS | -- |
No data available for SIGNOR curated interactions for ASB18 Gene
Transcripts for ASB18 Gene
mRNA/cDNA for ASB18 Gene
- (1) REFSEQ mRNAs :
- (1) Additional mRNA sequences :
- (2) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ASB18 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ASB18
-
Santa Cruz Biotechnology (SCBT) CRISPR for ASB18
- GenScript: Design CRISPR guide RNA sequences for ASB18
miRNA Products
- Search ViGene Biosciences for ASB18
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for ASB18
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- Search ViGene Biosciences for ASB18
Clone Products
-
OriGene ORF clones in human for ASB18
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for ASB18
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ASB18
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
Expression for ASB18 Gene
mRNA differential expression in normal tissues according to GTEx for ASB18 Gene
This gene is overexpressed in Heart - Left Ventricle (x23.7), Muscle - Skeletal (x9.0), and Brain - Putamen (basal ganglia) (x4.4).
This gene is overexpressed in Pancreatic juice (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ASB18 Gene
NURSA nuclear receptor signaling pathways regulating expression of ASB18 Gene:
ASB18SOURCE GeneReport for Unigene cluster for ASB18 Gene:
Hs.639909Primer Products
-
OriGene qPCR primer pairs for ASB18
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ASB18 Gene
Orthologs for ASB18 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ASB18 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | ASB18 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | ASB18 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Asb18 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Asb18 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ASB18 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ASB18 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | ASB18 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100488546 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC792746 34 |
|
||
| asb18 35 |
|
OneToOne |
- Species where no ortholog for ASB18 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- oppossum (Monodelphis domestica)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for ASB18 Gene
(4) SIMAP similar genes for ASB18 Gene using alignment to 3 proteins:
Variants for ASB18 Gene
| SNP ID | Clin | Chr 02 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1057518421 | Uncertain significance | 236,214,769(-) | GCCTG(C/G)ACGAG | reference, missense | |
| rs376567222 | Uncertain significance | 236,194,987(+) | CACAG(C/T)GGCAA | reference, missense | |
| rs1000084152 | -- | 236,248,976(+) | GGCAC(A/T)AGAAG | intron-variant | |
| rs1000102909 | -- | 236,246,652(+) | ATGAC(C/G)AATAG | intron-variant | |
| rs1000119461 | -- | 236,237,294(+) | CGTGG(-/CGCCTC)CCGCG | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv7342n54 | CNV | loss | 21841781 |
| esv2721701 | CNV | deletion | 23290073 |
| esv33938 | CNV | loss | 17666407 |
| esv3575342 | CNV | gain | 25503493 |
| esv3584380 | CNV | loss | 25503493 |
| nsv1000252 | CNV | loss | 25217958 |
| nsv1112780 | CNV | deletion | 24896259 |
| nsv214473 | CNV | deletion | 16902084 |
| nsv460143 | CNV | loss | 19166990 |
| nsv821922 | CNV | gain | 20364138 |
| nsv821923 | CNV | gain | 20364138 |
| nsv997438 | CNV | gain | 25217958 |
Gene Damage Index Score:
15.27;
97.03% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for ASB18 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- ASB18
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASB18 Gene
Disorders for ASB18 Gene
Relevant External Links for ASB18
No disorders were found for ASB18 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ASB18 Gene
Publications for ASB18 Gene
- Genome-wide association of lipid-lowering response to statins in combined study populations. (PMID: 20339536) Barber M.J. … Krauss R.M. (PLoS ONE 2010) 3 46 64
- The SOCS box: a tale of destruction and degradation. (PMID: 12076535) Kile B.T. … Hilton D.J. (Trends Biochem. Sci. 2002) 2 3 64
- Protein interaction screening for the ankyrin repeats and suppressor of cytokine signaling (SOCS) box (ASB) family identify Asb11 as a novel endoplasmic reticulum resident ubiquitin ligase. (PMID: 24337577) Andresen C.A. … Flores-Morales A. (J. Biol. Chem. 2014) 3 64
- Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. (PMID: 25201988) Rietveld C.A. … Koellinger P.D. (Proc. Natl. Acad. Sci. U.S.A. 2014) 3 64
- GWAS of 126,559 individuals identifies genetic variants associated with educational attainment. (PMID: 23722424) Rietveld C.A. … Koellinger P.D. (Science 2013) 3 64
Products for ASB18 Gene
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- Custom Antibody ServicesOriGene Antibodies for ASB18
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- VectorBuilder custom plasmid, inducible vectors for ASB18
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ASB18
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for ASB18 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer