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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ASB12 Gene

protein-coding   GIFtS: 49
GCID: GC0XM063444

ankyrin repeat and SOCS box containing 12

(Previous name: ankyrin repeat and SOCS box-containing 12 )
  Search for ASB12
in
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our new
 Human Malady Compendium 
Biological research products
for ASB12    

Aliases
for ASB12 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Ankyrin Repeat And SOCS Box Containing 121 2
Ankyrin Repeat And SOCS Box-Containing 121 2
FLJ395771
Ankyrin Repeat And SOCS Box Protein 122
Ankyrin Repeat Domain-Containing SOCS Box Protein Asb-122
ASB-123

External Ids:    HGNC: 197631   Entrez Gene: 1426892   Ensembl: ENSG000001988817   OMIM: 3008915   UniProtKB: Q8WXK43   

Export aliases for ASB12 gene to outside databases

Previous GC identifers: GC0XM059664 GC0XM060909 GC0XM061677 GC0XM062310 GC0XM063227 GC0XM063360 GC0XM057267


Summaries
for ASB12 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ASB12:
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)

UniProtKB/Swiss-Prot: ASB12_HUMAN, Q8WXK4
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 (By similarity)




Genomic Views
for ASB12 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_011669.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ASB12 gene promoter:
         Bach1   LHX3b/Lhx3b   FOXF2   HSF1 (long)   CUTL1   STAT5A   Ik-3   PPAR-alpha   LHX3a/Lhx3a   HSF1short   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ASB12 promoter sequence
   Search SABiosciences Chromatin IP Primers for ASB12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ASB12


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq11.2   Ensembl cytogenetic band:  Xq11.2   HGNC cytogenetic band: Xq11.1

ASB12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ASB12 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM063444:  view genomic region     (about GC identifiers)

Start:
 63,444,076 bp from pter      End:
 63,450,511 bp from pter
Size:
 6,436 bases      Orientation:
 minus strand

Proteins
for ASB12 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: ASB12_HUMAN, Q8WXK4 (See protein sequence)
Recommended Name: Ankyrin repeat and SOCS box protein 12  
Size: 309 amino acids; 33943 Da
Subunit: Interacts with CUL5 and RNF7
Secondary accessions: J3KP57 Q2M3D5 Q52LK4 Q6ISF9 Q8N8F5
Alternative splicing: 2 isoforms:  Q8WXK4-1   Q8WXK4-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ASB12: NX_Q8WXK4

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8WXK4

    • ASB12 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_569059.3  
    ENSEMBL proteins: 
     ENSP00000355195   ENSP00000379435  
    Reactome Protein details: Q8WXK4
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    Uscn Proteins for ASB12

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----


    ASB12 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for ASB12 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ASB12 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR001496 SOCS_C
     IPR020683 Ankyrin_rpt-contain_dom
     IPR002110 Ankyrin_rpt

    Graphical View of Domain Structure for InterPro Entry Q8WXK4

    ProtoNet protein and cluster: Q8WXK4

    2 Blocks protein families:
    IPB001496 SOCS protein
    IPB002110 Ankyrin repeat signature


    UniProtKB/Swiss-Prot: ASB12_HUMAN, Q8WXK4
    Domain: The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3
    ubiquitin-protein ligase complexes (By similarity)
    Similarity: Contains 5 ANK repeats
    Similarity: Contains 1 SOCS box domain


    Function
    for ASB12 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: ASB12_HUMAN, Q8WXK4
    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 (By similarity)

    miRNA
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    hsa-miR-3679-5p hsa-miR-766 hsa-miR-1185 hsa-miR-646 hsa-miR-4267
    SwitchGear 3'UTR luciferase reporter plasmid: ASB12 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Pathways & Interactions
    for ASB12 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Antigen processing: Ubiquitination & Proteasome degradation
    		Antigen processing: Ubiquitination & Proteasome degradation1.00
    		Polyubiquitination of substrate0.75
    		Class I MHC mediated antigen processing & presentation0.83
    2Immune System
    		Immune System1.00
    		Adaptive Immune System0.59

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5        Reactome Pathways for ASB12
        Antigen processing: Ubiquitination & Proteasome degradation
    Polyubiquitination of substrate
    Adaptive Immune System
    Class I MHC mediated antigen processing & presentation
    Immune System


    UniProtKB/Swiss-Prot: ASB12_HUMAN, Q8WXK4
    Pathway: Protein modification; protein ubiquitination


    ASB12 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ASB12

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/8 Interacting proteins for ASB12 (Q8WXK42, 3 ENSP000003551954) via UniProtKB, MINT, STRING, and/or I2D (see all 8)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    RNF7Q9UBF62, 3, ENSP000002734804MINT-77975 I2D: score=2 STRING: ENSP00000273480
    CUL5Q930342, 3MINT-77976 I2D: score=2 
    LZTR1Q8N6533, ENSP000002157394I2D: score=1 STRING: ENSP00000215739
    HOXA2O433643I2D: score=1 
    MYOCDQ8IZQ83I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016567protein ubiquitination IEA--
    GO:0035556intracellular signal transduction IEA--


    ASB12 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ASB12 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ASB12
    Search CenterWatch for drugs/clinical trials and news about ASB12 

    Transcripts
    for ASB12 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for ASB12 gene: 
    NM_130388.3  

    Unigene Cluster for ASB12:

    Ankyrin repeat and SOCS box containing 12
    Hs.56281  [show with all ESTs]
    Unigene Representative Sequence: NM_130388
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000362002(uc004dvq.2 uc004dvr.2) ENST00000396130

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    hsa-miR-3679-5p hsa-miR-766 hsa-miR-1185 hsa-miR-646 hsa-miR-4267
    SwitchGear 3'UTR luciferase reporter plasmid: ASB12 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AF403030.1 AK096896.1 AK300684.1 BC069436.1 BC069555.1 BC093883.1 BC104946.1 

    1 DOTS entry:

    DT.410807 

    16 AceView cDNA sequences:

    BC069555 NM_130388 F34438 BC069436 AA633985 AK096896 BX107270 AA349954 
    AF403030 AA778891 W76256 W58499 W72063 F25532 F18362 W58534 

    GeneLoc Exon Structure


    Expression
    for ASB12 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ASB12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ASB12 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    PlacentaChorioallantoic PlacentaExtraembryonic AngioblastsEndothelium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ASB12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ASB12

    SOURCE GeneReport for Unigene cluster: Hs.56281
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    In Situ
    Assay Products:     
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    Orthologs
    for ASB12 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for ASB12 gene from 5/15 species (see all 15)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ASB121 ankyrin repeat and SOCS box containing 12 65.38(n)
    67.63(a)    		   422313  XM_420289.2  XP_420289.3 
    lizard
    (Anolis carolinensis)    		 Reptilia ASB126
    		 --
    		 64(a)
    		 1 ↔ 1
    		 GL343875.1(55620-57797)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.246972 Xenopus laevis transcribed sequence with weak similarity more 75.47(n)    CB198136.2 
    zebrafish
    (Danio rerio)    		 Actinopterygii asb12b1 ankyrin repeat and SOCS box-containing protein 12b 59.48(n)
    60.78(a)    		   445507  NM_001004009.1  NP_001004009.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG91216
    		 --
    		 11(a)
    		 1 → many
    		 2L(5047818-5050975)


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

    Paralogs
    for ASB12 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ASB12 gene
    ASB132  ASB12  ASB112  ASB52  ASB92  ASB72  
    2 SIMAP similar genes for ASB12 using alignment to 1 protein entry:     ASB12_HUMAN:
    MTMR8    ASB1

    ASB12 for paralogs           About GeneDecksing



    Genomic Variants
    for ASB12 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/116 NCBI SNPs in ASB12 are shown (see all 116)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1505271361,2
    		--63443578(+) TCACCA/TATGTA 1 -- ds50010--------
    rs1995302321,2
    		--63444185(+) CGGAGA/GCATCA 1 -- ut310--------
    rs1399283651,2
    		C,F,--63444245(+) ATCAAC/TATGGG 2 I M mis11Minor allele frequency- T:0.00NA 4550
    rs2017628661,2
    		--63444262(+) ATCCAG/TCTGGT 2 M L mis10--------
    rs1494249321,2
    		C,F,--63444271(+) GTTGAT/CGGCTT 2 /I /V mis11Minor allele frequency- C:0.00NA 4550
    rs2006547941,2
    		C,--63444309(+) TGCGGA/GCGACT 2 A V mis10--------
    rs1485895251,2
    		C,F--63444340(+) TGACCG/ATGGAG 2 /R /W mis11Minor allele frequency- A:0.00NA 4532
    rs1404120461,2
    		C,--63444382(+) AGCAAC/TTATCA 1 -- int10--------
    rs735164861,2
    		C,--63444500(+) AATTGT/GGCTAA 1 -- int12Minor allele frequency- G:0.33WA CSA 3
    rs412984901,2
    		C,--63444646(+) TACGTT/GATTTA 1 -- int11Minor allele frequency- G:0.00CSA 1

    HapMap Linkage Disequilibrium report for ASB12 (63444076 - 63450511 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ASB12: --
    Locus Specific Mutation Databases (LSDB): ASB12

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ASB12
    DNA2.0 Custom Variant and Variant Library Synthesis for ASB12

    Disorders / Diseases
    for ASB12 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ASB12 for disorders           About MalaCards

    ASB12 for disorders           About GeneDecksing

    OMIM gene information: 300891    OMIM disorders: --

    2 diseases from the University of Copenhagen DISEASES database for ASB12:
    Pyloric stenosis     Cleft palate

    Export disorders for ASB12 gene to outside databases

    Publications
    for ASB12 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ASB12 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with ASB12)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    2. ASB proteins interact with cullin5 and Rbx2 to form E3 ubiquitin ligase complexes. (PubMed id 16325183)1, 2 Kohroki J.... Masuho Y. (2005)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. The SOCS box: a tale of destruction and degradation. (PubMed id 12076535)1, 3 Kile B.T....Hilton D.J. (2002)
    6. An atlas of combinatorial transcriptional regulation in mouse and man. (PubMed id 20211142)1 Ravasi T....Hayashizaki Y. (2010)
    7. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    9. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)
    10. Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. (PubMed id 7566098)1 Adams M.D....White O. (1995)

    External Searches for ASB12 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing ASB12 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 142689 HGNC: 19763 AceView: ASB12 Ensembl:ENSG00000198881 euGenes: HUgn142689
    ECgene: ASB12 H-InvDB: ASB12

    Other Databases showing ASB12 gene

    (According to HUGE)
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    Specialized Databases showing ASB12 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ASB12 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for ASB12 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for ASB12 gene:
    Search GeneIP for patents involving ASB12

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