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Aliases for ASB2 Gene

Aliases for ASB2 Gene

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

External Ids for ASB2 Gene

Previous GeneCards Identifiers for ASB2 Gene

  • GC14M091907
  • GC14M088217
  • GC14M092390
  • GC14M093470
  • GC14M094400
  • GC14M074580

Summaries for ASB2 Gene

Entrez Gene Summary for ASB2 Gene

  • This gene encodes a member of the ankyrin repeat and SOCS box-containing (ASB) protein family. These proteins play a role in protein degradation by coupling suppressor of cytokine signalling (SOCS) proteins with the elongin BC complex. The encoded protein is a subunit of a multimeric E3 ubiquitin ligase complex that mediates the degradation of actin-binding proteins. This gene plays a role in retinoic acid-induced growth inhibition and differentiation of myeloid leukemia cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]

GeneCards Summary for ASB2 Gene

ASB2 (Ankyrin Repeat And SOCS Box Containing 2) is a Protein Coding gene. Diseases associated with ASB2 include Leukemia, Acute Promyelocytic, Somatic. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include ubiquitin-protein transferase activity. An important paralog of this gene is ASB14.

UniProtKB/Swiss-Prot for ASB2 Gene

  • 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.

  • Isoform 1: Enhances adhesion of hematopoietic cells to fibronectin through targeting of filamins FLNA and FLNB for proteasomal degradation, it is transiantly expressed during hematopoietic cell differentiation.

  • Isoform 2: Involved in myogenic differentiation and targets filamin FLNB for proteasomal degradation but not filamin FLNA.

Gene Wiki entry for ASB2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASB2 Gene

Genomics for ASB2 Gene

Regulatory Elements for ASB2 Gene

Enhancers for ASB2 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
GH14G094025 1.1 ENCODE 15.3 -51.2 -51225 4.1 PKNOX1 FOXA2 ARID4B SIN3A ZNF2 ZBTB7B ZNF207 ZNF548 FOS PAF1 DDX24 C14orf48 ASB2 IFI27L2 IFI27L1 IFI27 OTUB2 GC14M094050 GC14M094051
GH14G093973 1.7 FANTOM5 Ensembl ENCODE dbSUPER 7.3 +0.4 356 5.9 HDGF PKNOX1 WRNIP1 SIN3A YBX1 ZNF143 PAF1 JUNB TBX21 SMARCA4 IFI27L2 ASB2 SERPINA1 MIR4506
GH14G094020 1.1 Ensembl ENCODE 11.2 -45.4 -45399 2.7 SOX13 CTCF SAP130 MLX ARID4B CEBPG DMAP1 ZIC2 HBP1 RARA IFI27L1 C14orf48 ASB2 DDX24 SERPINA2 OTUB2 GC14M094051 GC14M094050
GH14G093902 0.9 ENCODE 10.7 +74.0 73953 0.5 ELF3 FOXA2 MLX ARID4B DNMT3B THRB RAD21 RARA GATA4 CREM ASB2 C14orf48 ENSG00000279593 FAM181A
GH14G093953 2 FANTOM5 Ensembl ENCODE dbSUPER 4.2 +16.8 16791 13.2 HDGF PKNOX1 FOXA2 MLX WRNIP1 ZFP64 SIN3A ARID4B FEZF1 DMAP1 SERPINA1 C14orf48 UBR7 IFI27L2 IFI27 RPSAP4 FAM181A-AS1 ASB2 DDX24 MIR4506
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ASB2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ASB2 Gene

Chromosome:
14
Start:
93,934,153 bp from pter
End:
93,976,791 bp from pter
Size:
42,639 bases
Orientation:
Minus strand

Genomic View for ASB2 Gene

Genes around ASB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASB2 Gene

Proteins for ASB2 Gene

  • Protein details for ASB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96Q27-ASB2_HUMAN
    Recommended name:
    Ankyrin repeat and SOCS box protein 2
    Protein Accession:
    Q96Q27
    Secondary Accessions:
    • B2RDP9
    • B4E166
    • Q9NSU5
    • Q9Y567

    Protein attributes for ASB2 Gene

    Size:
    587 amino acids
    Molecular mass:
    65084 Da
    Quaternary structure:
    • Component of a probable ECS E3 ubiquitin-protein ligase complex which contains CUL5, either RBX1 or RNF7/RBX2, Elongin BC complex (ELOB and ELOC) and ASB2.

    Alternative splice isoforms for ASB2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASB2 Gene

Post-translational modifications for ASB2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ASB2 Gene

Domains & Families for ASB2 Gene

Gene Families for ASB2 Gene

Graphical View of Domain Structure for InterPro Entry

Q96Q27

UniProtKB/Swiss-Prot:

ASB2_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.
  • Both the N-terminus and ANK repeats 1 to 10 are necessary for interaction with filamins.
Family:
  • Belongs to the ankyrin SOCS box (ASB) family.
genes like me logo Genes that share domains with ASB2: view

Function for ASB2 Gene

Molecular function for ASB2 Gene

UniProtKB/Swiss-Prot Function:
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.
UniProtKB/Swiss-Prot Function:
Isoform 1: Enhances adhesion of hematopoietic cells to fibronectin through targeting of filamins FLNA and FLNB for proteasomal degradation, it is transiantly expressed during hematopoietic cell differentiation.
UniProtKB/Swiss-Prot Function:
Isoform 2: Involved in myogenic differentiation and targets filamin FLNB for proteasomal degradation but not filamin FLNA.
UniProtKB/Swiss-Prot Induction:
By all-trans retinoic acid (ATRA).

Gene Ontology (GO) - Molecular Function for ASB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16325183
GO:0061630 ubiquitin protein ligase activity IEA --
genes like me logo Genes that share ontologies with ASB2: view
genes like me logo Genes that share phenotypes with ASB2: view

Animal Model Products

CRISPR Products

miRNA for ASB2 Gene

miRTarBase miRNAs that target ASB2

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ASB2 Gene

Localization for ASB2 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 ASB2 gene
Compartment Confidence
mitochondrion 3
cytosol 3
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ASB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0031466 Cul5-RING ubiquitin ligase complex IEA --
genes like me logo Genes that share ontologies with ASB2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ASB2 Gene

Pathways & Interactions for ASB2 Gene

genes like me logo Genes that share pathways with ASB2: view

UniProtKB/Swiss-Prot Q96Q27-ASB2_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for ASB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IEA --
GO:0007165 signal transduction TAS 9419338
GO:0016567 protein ubiquitination IEA --
GO:0035556 intracellular signal transduction IEA --
GO:0035914 skeletal muscle cell differentiation IEA --
genes like me logo Genes that share ontologies with ASB2: view

No data available for SIGNOR curated interactions for ASB2 Gene

Drugs & Compounds for ASB2 Gene

(1) Additional Compounds for ASB2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ASB2: view

Transcripts for ASB2 Gene

Unigene Clusters for ASB2 Gene

Ankyrin repeat and SOCS box containing 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ASB2 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9
SP1: - - - -
SP2: - -
SP3: - - - - - -
SP4:
SP5: - - -
SP6: - -

Relevant External Links for ASB2 Gene

GeneLoc Exon Structure for
ASB2
ECgene alternative splicing isoforms for
ASB2

Expression for ASB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ASB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ASB2 Gene

This gene is overexpressed in Muscle - Skeletal (x21.0) and Heart - Left Ventricle (x4.8).

Protein differential expression in normal tissues from HIPED for ASB2 Gene

This gene is overexpressed in Ovary (64.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ASB2 Gene



Protein tissue co-expression partners for ASB2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ASB2 Gene:

ASB2

SOURCE GeneReport for Unigene cluster for ASB2 Gene:

Hs.510327

Evidence on tissue expression from TISSUES for ASB2 Gene

  • Blood(4.2)
  • Kidney(4.1)
  • Stomach(4.1)
  • Muscle(3.5)
  • Heart(2.2)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with ASB2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ASB2 Gene

Orthologs for ASB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ASB2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ASB2 34 35
  • 99.47 (n)
cow
(Bos Taurus)
Mammalia ASB2 34 35
  • 88.94 (n)
dog
(Canis familiaris)
Mammalia ASB2 34 35
  • 88.04 (n)
rat
(Rattus norvegicus)
Mammalia Asb2 34
  • 87.28 (n)
mouse
(Mus musculus)
Mammalia Asb2 34 16 35
  • 86.65 (n)
oppossum
(Monodelphis domestica)
Mammalia ASB2 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ASB2 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves ASB2 34 35
  • 68.3 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 72 (a)
OneToMany
-- 35
  • 67 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia asb2 34
  • 62.5 (n)
zebrafish
(Danio rerio)
Actinopterygii asb2a.1 34 35 35
  • 56.49 (n)
asb2b 35
  • 40 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea M60.7 35
  • 21 (a)
OneToMany
Species where no ortholog for ASB2 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)
  • 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)

Evolution for ASB2 Gene

ENSEMBL:
Gene Tree for ASB2 (if available)
TreeFam:
Gene Tree for ASB2 (if available)

Paralogs for ASB2 Gene

Paralogs for ASB2 Gene

genes like me logo Genes that share paralogs with ASB2: view

Variants for ASB2 Gene

Sequence variations from dbSNP and Humsavar for ASB2 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1000018661 -- 93,966,398(+) GGGGT(C/G)CTCCT intron-variant
rs1000030441 -- 93,959,910(+) GCTAA(C/T)AAAAT intron-variant
rs1000159675 -- 93,965,190(+) TTTCC(A/G)TTCCA intron-variant
rs1000218839 -- 93,956,244(+) GATTA(A/T)TTCTG intron-variant, upstream-variant-2KB
rs1000250185 -- 93,955,668(+) CTGCC(A/G)CCCAG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for ASB2 Gene

Variant ID Type Subtype PubMed ID
nsv1052048 CNV gain 25217958
nsv1405 CNV insertion 18451855
nsv832861 CNV loss 17160897

Variation tolerance for ASB2 Gene

Residual Variation Intolerance Score: 93.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.66; 65.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ASB2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASB2 Gene

Disorders for ASB2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ASB2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leukemia, acute promyelocytic, somatic
  • leukemia, acute promyelocytic
- elite association - COSMIC cancer census association via MalaCards
Search ASB2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ASB2

Genetic Association Database (GAD)
ASB2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ASB2
genes like me logo Genes that share disorders with ASB2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ASB2 Gene

Publications for ASB2 Gene

  1. ASB2 is an elongin BC-interacting protein that can assemble with cullin 5 and Rbx1 to reconstitute an E3 ubiquitin ligase complex. (PMID: 15590664) Heuze M.L. … Lutz P.G. (J. Biol. Chem. 2005) 3 4 22 64
  2. ASB-2 inhibits growth and promotes commitment in myeloid leukemia cells. (PMID: 11682484) Guibal F.C. … Cayre Y.E. (J. Biol. Chem. 2002) 3 4 22 64
  3. ATRA-regulated Asb-2 gene induced in differentiation of HL-60 leukemia cells. (PMID: 11566180) Kohroki J. … Tanaka K. (FEBS Lett. 2001) 3 4 22 64
  4. Cloning and characterization of the genes encoding the ankyrin repeat and SOCS box-containing proteins Asb-1, Asb-2, Asb-3 and Asb-4. (PMID: 11111040) Kile B.T. … Alexander W.S. (Gene 2000) 3 4 22 64
  5. ASB2I+, an E3 ubiquitin ligase specificity subunit, regulates cell spreading and triggers proteasomal degradation of filamins by targeting the filamin calponin homology 1 domain. (PMID: 24052262) Razinia Z. … Calderwood D.A. (J. Biol. Chem. 2013) 3 4 64

Products for ASB2 Gene

Sources for ASB2 Gene

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