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Aliases for ASB8 Gene

Aliases for ASB8 Gene

  • Ankyrin Repeat And SOCS Box Containing 8 2 3 5
  • Ankyrin Repeat And SOCS Box-Containing 8 2
  • Ankyrin Repeat And SOCS Box Protein 8 3
  • PP14212 3
  • ASB-8 4

External Ids for ASB8 Gene

Previous GeneCards Identifiers for ASB8 Gene

  • GC00U991142
  • GC12M048441
  • GC12M048259
  • GC12M046828
  • GC12M046827
  • GC12M048541
  • GC12M045573

Summaries for ASB8 Gene

GeneCards Summary for ASB8 Gene

ASB8 (Ankyrin Repeat And SOCS Box Containing 8) is a Protein Coding gene. Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System. An important paralog of this gene is ANKEF1.

UniProtKB/Swiss-Prot for ASB8 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.

Additional gene information for ASB8 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASB8 Gene

Genomics for ASB8 Gene

GeneHancer (GH) Regulatory Elements for ASB8 Gene

Promoters and enhancers for ASB8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J048156 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 665.5 +23.8 23758 2.5 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B E2F8 ZNF143 ASB8 DDX23 SENP1 KMT2D CCNT1 LMBR1L KANSL2 LOC390314 PFKM RPL37P19
GH12J047804 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 13.7 +363.5 363465 25.6 ZFP64 FEZF1 DMAP1 IRF4 ZNF213 ZNF143 SP3 MEF2D GLIS1 NBN HDAC7 ENSG00000274737 CCNT1 LOC390314 KANSL2 SENP1 RAPGEF3 ASB8 VDR SLC48A1
GH12J047704 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 10.3 +474.9 474873 2.8 HDGF SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF207 ENSG00000257433 LOC105369748 RPAP3 OR5BK1P VDR SLC48A1 RAPGEF3 H1FNT HDAC7 SENP1
GH12J047962 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 9.6 +216.6 216585 3.3 HDGF MLX ARID4B SIN3A ZNF2 SLC30A9 ZNF207 ZNF143 DEK SP3 TMEM106C ENSG00000279840 DDX23 CCNT1 RPL37P19 LOC390314 HDAC7 KANSL2 SENP1 COL2A1
GH12J048104 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.7 +74.9 74923 4.1 ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 SENP1 PFKM DDX23 CCNT1 KMT2D KANSL2 LOC390314 RPL37P19 RPAP3 HDAC7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ASB8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ASB8 gene promoter:

Genomic Locations for ASB8 Gene

Genomic Locations for ASB8 Gene
chr12:48,147,788-48,181,213
(GRCh38/hg38)
Size:
33,426 bases
Orientation:
Minus strand
chr12:48,541,571-48,574,996
(GRCh37/hg19)

Genomic View for ASB8 Gene

Genes around ASB8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASB8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASB8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASB8 Gene

Proteins for ASB8 Gene

  • Protein details for ASB8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H765-ASB8_HUMAN
    Recommended name:
    Ankyrin repeat and SOCS box protein 8
    Protein Accession:
    Q9H765
    Secondary Accessions:
    • A8K1P2
    • Q547Q2

    Protein attributes for ASB8 Gene

    Size:
    288 amino acids
    Molecular mass:
    31642 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ASB8 Gene

Post-translational modifications for ASB8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ASB8 Gene

Domains & Families for ASB8 Gene

Gene Families for ASB8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

Q9H765

UniProtKB/Swiss-Prot:

ASB8_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.
genes like me logo Genes that share domains with ASB8: view

Function for ASB8 Gene

Molecular function for ASB8 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.

Phenotypes From GWAS Catalog for ASB8 Gene

genes like me logo Genes that share phenotypes with ASB8: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ASB8 Gene

Localization for ASB8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASB8 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ASB8 gene
Compartment Confidence
cytosol 5
nucleus 2
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ASB8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ASB8: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ASB8 Gene

Pathways & Interactions for ASB8 Gene

genes like me logo Genes that share pathways with ASB8: view

UniProtKB/Swiss-Prot Q9H765-ASB8_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for ASB8 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 --
genes like me logo Genes that share ontologies with ASB8: view

No data available for SIGNOR curated interactions for ASB8 Gene

Drugs & Compounds for ASB8 Gene

No Compound Related Data Available

Transcripts for ASB8 Gene

mRNA/cDNA for ASB8 Gene

(15) Selected AceView cDNA sequences:
(6) Additional mRNA sequences :
(7) REFSEQ mRNAs :
(18) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ASB8 Gene

Ankyrin repeat and SOCS box containing 8:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ASB8 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e · 7f · 7g · 7h
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - - - -
SP5: - - - - -
SP6: - - - -
SP7: - - - - - - -
SP8: - - - - - - -
SP9: - - - - - -
SP10: - - - - - -
SP11: - - - - -
SP12: - - -
SP13: - - -

Relevant External Links for ASB8 Gene

GeneLoc Exon Structure for
ASB8
ECgene alternative splicing isoforms for
ASB8

Expression for ASB8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ASB8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ASB8 Gene

This gene is overexpressed in Muscle - Skeletal (x8.8).

Protein differential expression in normal tissues from HIPED for ASB8 Gene

This gene is overexpressed in Spinal cord (54.0) and Retina (15.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ASB8 Gene



Protein tissue co-expression partners for ASB8 Gene

NURSA nuclear receptor signaling pathways regulating expression of ASB8 Gene:

ASB8

SOURCE GeneReport for Unigene cluster for ASB8 Gene:

Hs.432699

mRNA Expression by UniProt/SwissProt for ASB8 Gene:

Q9H765-ASB8_HUMAN
Tissue specificity: Highest level of expression in skeletal muscle. Also expressed in heart, brain, placenta, liver, kidney and pancreas.

Evidence on tissue expression from TISSUES for ASB8 Gene

  • Nervous system(4.8)
  • Intestine(4.2)
genes like me logo Genes that share expression patterns with ASB8: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ASB8 Gene

Orthologs for ASB8 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ASB8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ASB8 34 33
  • 99.65 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ASB8 34 33
  • 93.17 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ASB8 34 33
  • 93.06 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Asb8 33
  • 90.62 (n)
mouse
(Mus musculus)
Mammalia Asb8 16 34 33
  • 90.16 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ASB8 34
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves ASB8 34 33
  • 69.14 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ASB8 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486931 33
  • 62.98 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16250 33
zebrafish
(Danio rerio)
Actinopterygii asb8 34 33
  • 71.21 (n)
OneToOne
wufd16d08 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2183 33
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NAS6 34
  • 22 (a)
OneToMany
Species where no ortholog for ASB8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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)

Evolution for ASB8 Gene

ENSEMBL:
Gene Tree for ASB8 (if available)
TreeFam:
Gene Tree for ASB8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ASB8: view image

Paralogs for ASB8 Gene

Paralogs for ASB8 Gene

(7) SIMAP similar genes for ASB8 Gene using alignment to 11 proteins:

  • ASB8_HUMAN
  • F5GYF0_HUMAN
  • F5GZZ3_HUMAN
  • F5H023_HUMAN
  • F5H243_HUMAN
  • F5H5S9_HUMAN
  • F5H6A7_HUMAN
  • F5H772_HUMAN
  • F5H7B4_HUMAN
  • F8VS92_HUMAN
  • Q6IA19_HUMAN
genes like me logo Genes that share paralogs with ASB8: view

Variants for ASB8 Gene

Sequence variations from dbSNP and Humsavar for ASB8 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000098926 -- 48,152,277(-) T/C intron_variant
rs1000163306 -- 48,150,419(-) T/C intron_variant
rs1000552689 -- 48,152,561(-) A/C intron_variant
rs1000763870 -- 48,152,116(-) C/G/T intron_variant
rs1000867697 -- 48,158,797(-) C/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ASB8 Gene

Variant ID Type Subtype PubMed ID
esv2759898 CNV gain+loss 17122850
esv34439 CNV gain 17911159
esv3629429 CNV gain 21293372
nsv508673 CNV deletion 20534489
nsv8971 CNV gain+loss 18304495

Variation tolerance for ASB8 Gene

Residual Variation Intolerance Score: 38.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.63; 45.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASB8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASB8

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASB8 Gene

Disorders for ASB8 Gene

Additional Disease Information for ASB8

No disorders were found for ASB8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ASB8 Gene

Publications for ASB8 Gene

  1. Molecular cloning and characterization of the human ASB-8 gene encoding a novel member of ankyrin repeat and SOCS box containing protein family. (PMID: 12559969) Liu Y … Gu J (Biochemical and biophysical research communications 2003) 3 4 22 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. The SOCS box: a tale of destruction and degradation. (PMID: 12076535) Kile BT … Hilton DJ (Trends in biochemical sciences 2002) 2 3 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for ASB8 Gene

Sources for ASB8 Gene

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