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Aliases for ASB12 Gene

Aliases for ASB12 Gene

  • Ankyrin Repeat And SOCS Box Containing 12 2 3 5
  • Ankyrin Repeat And SOCS Box-Containing 12 2
  • ASB-12 4

External Ids for ASB12 Gene

Previous GeneCards Identifiers for ASB12 Gene

  • GC0XM059664
  • GC0XM060909
  • GC0XM061677
  • GC0XM062310
  • GC0XM063227
  • GC0XM063360
  • GC0XM063444
  • GC0XM057267

Summaries for ASB12 Gene

Entrez Gene Summary for ASB12 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, Jan 2011]

GeneCards Summary for ASB12 Gene

ASB12 (Ankyrin Repeat And SOCS Box Containing 12) 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 ASB1.

UniProtKB/Swiss-Prot for ASB12 Gene

  • Probable 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 ASB12 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASB12 Gene

Genomics for ASB12 Gene

GeneHancer (GH) Regulatory Elements for ASB12 Gene

Promoters and enhancers for ASB12 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
GH0XI064230 Promoter 0.5 EPDnew 550.8 +0.0 4 0.1 ASB12 RN7SL799P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ASB12 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ASB12 gene promoter:

Genomic Locations for ASB12 Gene

Genomic Locations for ASB12 Gene
chrX:64,224,192-64,230,631
(GRCh38/hg38)
Size:
6,440 bases
Orientation:
Minus strand
chrX:63,444,072-63,450,511
(GRCh37/hg19)

Genomic View for ASB12 Gene

Genes around ASB12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASB12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASB12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASB12 Gene

Proteins for ASB12 Gene

  • Protein details for ASB12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WXK4-ASB12_HUMAN
    Recommended name:
    Ankyrin repeat and SOCS box protein 12
    Protein Accession:
    Q8WXK4
    Secondary Accessions:
    • J3KP57
    • Q2M3D5
    • Q52LK4
    • Q6ISF9
    • Q8N8F5

    Protein attributes for ASB12 Gene

    Size:
    309 amino acids
    Molecular mass:
    33943 Da
    Quaternary structure:
    • Interacts with CUL5 and RNF7.

    Alternative splice isoforms for ASB12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASB12 Gene

Post-translational modifications for ASB12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ASB12 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ASB12 Gene

Domains & Families for ASB12 Gene

Gene Families for ASB12 Gene

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

Suggested Antigen Peptide Sequences for ASB12 Gene

Graphical View of Domain Structure for InterPro Entry

Q8WXK4

UniProtKB/Swiss-Prot:

ASB12_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 ASB12: view

Function for ASB12 Gene

Molecular function for ASB12 Gene

UniProtKB/Swiss-Prot Function:
Probable 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.

Gene Ontology (GO) - Molecular Function for ASB12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16325183
GO:0061630 contributes_to ubiquitin protein ligase activity IDA 16325183
genes like me logo Genes that share ontologies with ASB12: view
genes like me logo Genes that share phenotypes with ASB12: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ASB12 Gene

Localization for ASB12 Gene

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 ASB12 gene
Compartment Confidence
cytosol 5
cytoskeleton 2
extracellular 1

Gene Ontology (GO) - Cellular Components for ASB12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IDA 16325183
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ASB12: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for ASB12 Gene

Pathways & Interactions for ASB12 Gene

genes like me logo Genes that share pathways with ASB12: view

UniProtKB/Swiss-Prot Q8WXK4-ASB12_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for ASB12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with ASB12: view

No data available for SIGNOR curated interactions for ASB12 Gene

Drugs & Compounds for ASB12 Gene

No Compound Related Data Available

Transcripts for ASB12 Gene

mRNA/cDNA for ASB12 Gene

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

Unigene Clusters for ASB12 Gene

Ankyrin repeat and SOCS box containing 12:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ASB12 Gene

No ASD Table

Relevant External Links for ASB12 Gene

GeneLoc Exon Structure for
ASB12
ECgene alternative splicing isoforms for
ASB12

Expression for ASB12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ASB12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ASB12 Gene

This gene is overexpressed in Muscle - Skeletal (x49.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ASB12 Gene



NURSA nuclear receptor signaling pathways regulating expression of ASB12 Gene:

ASB12

SOURCE GeneReport for Unigene cluster for ASB12 Gene:

Hs.56281

Evidence on tissue expression from TISSUES for ASB12 Gene

  • Muscle(4.5)
  • Nervous system(4)
genes like me logo Genes that share expression patterns with ASB12: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ASB12 Gene

Orthologs for ASB12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ASB12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ASB12 33 34
  • 99.16 (n)
dog
(Canis familiaris)
Mammalia ASB12 33 34
  • 90.88 (n)
cow
(Bos Taurus)
Mammalia ASB12 33 34
  • 90.27 (n)
mouse
(Mus musculus)
Mammalia Asb12 33 16 34
  • 85.17 (n)
rat
(Rattus norvegicus)
Mammalia Asb12 33
  • 83.66 (n)
oppossum
(Monodelphis domestica)
Mammalia ASB12 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves ASB12 33 34
  • 65.17 (n)
lizard
(Anolis carolinensis)
Reptilia ASB12 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia asb12.2 33
  • 57.87 (n)
MGC75891 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.24697 33
zebrafish
(Danio rerio)
Actinopterygii asb12b 33 34
  • 58.93 (n)
asb12a 34
  • 56 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1268 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 31 (a)
OneToMany
Species where no ortholog for ASB12 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)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 ASB12 Gene

ENSEMBL:
Gene Tree for ASB12 (if available)
TreeFam:
Gene Tree for ASB12 (if available)

Paralogs for ASB12 Gene

Paralogs for ASB12 Gene

(2) SIMAP similar genes for ASB12 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ASB12: view

Variants for ASB12 Gene

Sequence variations from dbSNP and Humsavar for ASB12 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1000341377 -- 64,230,631(-) T/A 5_prime_UTR_variant
rs1000691889 -- 64,230,305(-) C/T intron_variant
rs1001027259 -- 64,228,446(-) C/T intron_variant
rs1001396249 -- 64,228,097(-) A/G intron_variant
rs1001499945 -- 64,225,828(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ASB12 Gene

Variant ID Type Subtype PubMed ID
esv1584074 OTHER inversion 17803354
nsv521560 CNV gain 19592680

Variation tolerance for ASB12 Gene

Residual Variation Intolerance Score: 93.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.26; 40.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASB12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASB12

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASB12 Gene

Disorders for ASB12 Gene

Additional Disease Information for ASB12

No disorders were found for ASB12 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ASB12 Gene

Publications for ASB12 Gene

  1. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 58
  2. ASB proteins interact with Cullin5 and Rbx2 to form E3 ubiquitin ligase complexes. (PMID: 16325183) Kohroki J … Masuho Y (FEBS letters 2005) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. 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
  5. The SOCS box: a tale of destruction and degradation. (PMID: 12076535) Kile BT … Hilton DJ (Trends in biochemical sciences 2002) 2 3 58

Products for ASB12 Gene

Sources for ASB12 Gene

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