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 ... See more...

Aliases for ASB2 Gene

Aliases for ASB2 Gene

  • Ankyrin Repeat And SOCS Box Containing 2 2 3 5
  • ASB-2 2 3 4
  • Ankyrin Repeat And SOCS Box Protein 2 3 4
  • Ankyrin Repeat And SOCS Box-Containing Protein 2a 3
  • Ankyrin Repeat And SOCS Box-Containing 2 2
  • ASB2 5

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 Myeloid Leukemia and Acute Promyelocytic Leukemia. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include ubiquitin-protein transferase activity. An important paralog of this gene is UACA.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for ASB2 Gene

Genomics for ASB2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ASB2 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
GH14J093973 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 268.3 +0.3 349 6 SP1 BCL11A NR2C1 ZIC2 SIN3A TRIM22 IRF4 EBF1 SMARCA5 MAX ASB2 lnc-DDX24-1 IFI27L2 SERPINA1 HSALNG0103336-002 HSALNG0103337 FAM181A
GH14J094025 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 15.3 -51.2 -51203 4.3 ZBTB10 SP1 MNT MBD2 ZNF217 ZBTB7B ZIC2 HOMEZ ZNF610 THAP11 OTUB2 HSALNG0103342 BTBD7 DDX24 CCDC197 ASB2 IFI27L2 IFI27L1 IFI27 lnc-IFI27L2-3
GH14J094128 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 12.8 -152.8 -152762 2.2 IKZF1 CTCF ELF1 SIN3A VEZF1 ZNF341 KLF9 YY1 SP2 SRF IFI27L2 lnc-IFI27L2-1 ASB2 IFI27L1 HSALNG0103351 IFI27
GH14J093927 Promoter/Enhancer 1.1 EPDnew Ensembl CraniofacialAtlas 11.4 +49.7 49712 1.7 CEBPA CEBPG HLF RFX1 RBFOX2 FAM181A-AS1 FAM181A ASB2 CCDC197
GH14J094019 Enhancer 1 Ensembl ENCODE 12.1 -44.9 -44930 4.7 CEBPA ZNF217 ELF1 CTCF ZIC2 SAP130 CTBP1 RARA KLF9 BCL6 CCDC197 BTBD7 DDX24 IFI27L1 ASB2 SERPINA2 OTUB2 RF00017-1666
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ASB2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ASB2

Top Transcription factor binding sites by QIAGEN in the ASB2 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • GATA-2
  • GATA-3
  • YY1

Genomic Locations for ASB2 Gene

Latest Assembly
chr14:93,934,160-93,976,739
(GRCh38/hg38)
Size:
42,580 bases
Orientation:
Minus strand

Previous Assembly
chr14:94,400,512-94,442,916
(GRCh37/hg19 by Entrez Gene)
Size:
42,405 bases
Orientation:
Minus strand

chr14:94,400,499-94,443,137
(GRCh37/hg19 by Ensembl)
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

Protein Domains for ASB2 Gene

InterPro:
Blocks:
  • Ankyrin repeat signature
  • SOCS protein, C-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for ASB2 Gene

GenScript: Design optimal peptide antigens:
  • Ankyrin repeat and SOCS box protein 2 (ASB2_HUMAN)
  • cDNA FLJ32516 fis, clone SMINT1000103, highly similar to Ankyrin repeat and SOCS box protein 2 (B3KPZ6_HUMAN)
  • cDNA FLJ56197, highly similar to Ankyrin repeat and SOCS box protein 2 (ASB-2) (B4E166_HUMAN)

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).

Phenotypes From GWAS Catalog for ASB2 Gene

Gene Ontology (GO) - Molecular Function for ASB2 Gene

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

Animal Models for ASB2 Gene

MGI Knock Outs for ASB2:
  • Asb2 Asb2<tm2b(KOMP)Wtsi>

miRNA for ASB2 Gene

miRTarBase miRNAs that target ASB2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASB2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
cytosol 5
mitochondrion 3
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli fibrillar center (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ASB2 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 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:0006511 ubiquitin-dependent protein catabolic process IBA 21873635
GO:0007165 signal transduction TAS 9419338
GO:0016567 protein ubiquitination IBA,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

mRNA/cDNA for ASB2 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASB2

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

Expression for ASB2 Gene

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



Protein tissue co-expression partners for ASB2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ASB2

SOURCE GeneReport for Unigene cluster for ASB2 Gene:

Hs.510327

Evidence on tissue expression from TISSUES for ASB2 Gene

  • Kidney(4.3)
  • Blood(4.3)
  • Stomach(4.1)
  • Muscle(3.6)
  • Heart(2.8)
  • Intestine(2.5)
genes like me logo Genes that share expression patterns with ASB2: view

Primer products for research

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 30 31
  • 99.47 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ASB2 30 31
  • 88.94 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ASB2 30 31
  • 88.04 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Asb2 30
  • 87.28 (n)
Mouse
(Mus musculus)
Mammalia Asb2 30 17 31
  • 86.65 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ASB2 31
  • 77 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ASB2 31
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ASB2 30 31
  • 68.3 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 72 (a)
OneToMany
-- 31
  • 67 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia asb2 30
  • 62.5 (n)
Zebrafish
(Danio rerio)
Actinopterygii asb2a.1 30 31 31
  • 56.49 (n)
OneToMany
asb2b 31
  • 40 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea M60.7 31
  • 21 (a)
OneToMany
Species where no ortholog for ASB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for ASB2: view image

Paralogs for ASB2 Gene

Paralogs for ASB2 Gene

(16) SIMAP similar genes for ASB2 Gene using alignment to 5 proteins:

  • ASB2_HUMAN
  • G3V2Z2_HUMAN
  • G3V3P8_HUMAN
  • G3V484_HUMAN
  • G3V4B2_HUMAN
genes like me logo Genes that share paralogs with ASB2: view

Variants for ASB2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ASB2 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs2295213 - p.Pro160Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ASB2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for ASB2 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for ASB2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ASB2 Gene - From: COP and GCD

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

Additional Disease Information for ASB2

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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) Heuzé ML … Lutz PG (The Journal of biological chemistry 2005) 3 4 23
  2. ASB-2 inhibits growth and promotes commitment in myeloid leukemia cells. (PMID: 11682484) Guibal FC … Cayre YE (The Journal of biological chemistry 2002) 3 4 23
  3. ATRA-regulated Asb-2 gene induced in differentiation of HL-60 leukemia cells. (PMID: 11566180) Kohroki J … Tanaka K (FEBS letters 2001) 3 4 23
  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 BT … Alexander WS (Gene 2000) 3 4 23
  5. ASB2α, 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 DA (The Journal of biological chemistry 2013) 3 4

Products for ASB2 Gene

Sources for ASB2 Gene