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CCBL2 Gene

protein-coding   GIFtS: 60
GCID: GC01M089401

Cysteine Conjugate-Beta Lyase 2

  Search for CCBL2
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cysteine Conjugate-Beta Lyase 21 2     RP11-82K18.32
KAT32 3 5     Kynurenine--Oxoglutarate Transaminase 32
Cysteine-S-Conjugate Beta-Lyase 22 3     Kynurenine-Oxoglutarate Transaminase 32
Kynurenine Aminotransferase III2 3     EC 2.6.1.633
Kynurenine--Glyoxylate Transaminase2 3     EC 2.6.1.73
Kynurenine--Oxoglutarate Transaminase III2 3     EC 4.4.1.133
KATIII2 3     

External Ids:    HGNC: 332381   Entrez Gene: 562672   Ensembl: ENSG000001379447   OMIM: 6106565   UniProtKB: Q6YP213   

Export aliases for CCBL2 gene to outside databases

Previous GC identifers: GC01M089174 GC01M087518


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CCBL2 Gene:
This gene encodes an aminotransferase that transaminates kynurenine to form kynurenic acid. Kynurenic acid is a
metabolite of tryptophan. Multiple alternatively spliced transcript variants that encode different proteins have
been described for this gene. This gene shares 5' exon structure with the RNA binding motif protein,
X-linked-like 1 locus on chromosome 1, but the coding sequences are non-overlapping. (provided by RefSeq, Jun
2009)

GeneCards Summary for CCBL2 Gene:
CCBL2 (cysteine conjugate-beta lyase 2) is a protein-coding gene. GO annotations related to this gene include protein homodimerization activity and kynurenine-oxoglutarate transaminase activity. An important paralog of this gene is CCBL1.

UniProtKB/Swiss-Prot: KAT3_HUMAN, Q6YP21
Function: Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic
acid (KA). May catalyze the beta-elimination of S-conjugates and Se-conjugates of L-(seleno)cysteine, resulting
in the cleavage of the C-S or C-Se bond (By similarity). Has transaminase activity towards L-kynurenine,
tryptophan, phenylalanine, serine, cysteine, methionine, histidine, glutamine and asparagine with glyoxylate as
an amino group acceptor (in vitro). Has lower activity with 2-oxoglutarate as amino group acceptor (in vitro) (By
similarity)




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the CCBL2 gene promoter:
         Nkx3-1 v2   Nkx3-1   MZF-1   N-Myc   Nkx3-1 v4   FOXJ2 (long isoform)   Nkx3-1 v3   Nkx3-1 v1   CUTL1   FOXL1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCBL2 promoter sequence
   Search Chromatin IP Primers for CCBL2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCBL2


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

Entrez Gene cytogenetic band: 1p22.2   Ensembl cytogenetic band:  1p22.2   HGNC cytogenetic band: 1p22.2

CCBL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCBL2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M089401:  view genomic region     (about GC identifiers)

Start:
89,401,456 bp from pter      End:
89,458,643 bp from pter
Size:
57,188 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: KAT3_HUMAN, Q6YP21 (See protein sequence)
Recommended Name: Kynurenine--oxoglutarate transaminase 3  
Size: 454 amino acids; 51400 Da
Cofactor: Pyridoxal phosphate (By similarity)
Subunit: Homodimer (By similarity)
Caution: The first non-coding exon of CCBL2 is in common with that of RBMXL1
Sequence caution: Sequence=AAC72959.1; Type=Frameshift; Positions=336; Sequence=AAH00819.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=CAG29278.1; Type=Frameshift; Positions=336;
Sequence=CAI21695.1; Type=Erroneous gene model prediction; Sequence=CAI21696.1; Type=Erroneous gene model
prediction; Sequence=CAI41339.1; Type=Erroneous gene model prediction; Sequence=CAI41340.1; Type=Erroneous gene
model prediction;
Secondary accessions: B3KQ13 O95335 Q5JS27 Q5T9T7 Q5T9T8 Q6AI27 Q6ICW1 Q9BVY5
Alternative splicing: 3 isoforms:  Q6YP21-1   Q6YP21-2   Q6YP21-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CCBL2: NX_Q6YP21

Explore proteomics data for CCBL2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys108, Lys447
  • Modification sites at PhosphoSitePlus

  • See CCBL2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001008661.1  NP_001008662.1  

    ENSEMBL proteins: 
     ENSP00000359522   ENSP00000260508   ENSP00000359517   ENSP00000359516  
    Reactome Protein details: Q6YP21

    CCBL2 Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for CCBL2 

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    LSBio Antibodies in human, mouse, rat for CCBL2

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    Browse ELISAs at Cloud-Clone Corp.
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    Search eBioscience for ELISAs for CCBL2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR015422 PyrdxlP-dep_Trfase_major_sub2
     IPR004839 Aminotransferase_I/II
     IPR015424 PyrdxlP-dep_Trfase
     IPR015421 PyrdxlP-dep_Trfase_major_sub1

    Graphical View of Domain Structure for InterPro Entry Q6YP21

    ProtoNet protein and cluster: Q6YP21

    1 Blocks protein domain: IPB004839 Aminotransferase

    UniProtKB/Swiss-Prot: KAT3_HUMAN, Q6YP21
    Similarity: Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family


    Find genes that share domains with CCBL2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KAT3_HUMAN, Q6YP21
    Function: Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic
    acid (KA). May catalyze the beta-elimination of S-conjugates and Se-conjugates of L-(seleno)cysteine, resulting
    in the cleavage of the C-S or C-Se bond (By similarity). Has transaminase activity towards L-kynurenine,
    tryptophan, phenylalanine, serine, cysteine, methionine, histidine, glutamine and asparagine with glyoxylate as
    an amino group acceptor (in vitro). Has lower activity with 2-oxoglutarate as amino group acceptor (in vitro) (By
    similarity)
    Catalytic activity: L-kynurenine + 2-oxoglutarate = 4-(2-aminophenyl)-2,4-dioxobutanoate + L-glutamate
    Catalytic activity: RS-CH(2)-CH(NH(3)(+))COO(-) + H(2)O = RSH + NH(3) + pyruvate
    Catalytic activity: L-kynurenine + glyoxylate = 4-(2-aminophenyl)-2,4-dioxobutanoate + glycine

         Enzyme Numbers (IUBMB): EC 4.4.1.131 EC 2.6.1.71 EC 2.6.1.631

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016212kynurenine-oxoglutarate transaminase activity ISS--
    GO:0030170pyridoxal phosphate binding IEA--
    GO:0042803protein homodimerization activity IEA--
    GO:0044822poly(A) RNA binding IDA--
    GO:0047315kynurenine-glyoxylate transaminase activity ISS--
         
    Find genes that share ontologies with CCBL2           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for CCBL2:
     Increased G2M DNA content  Increased number of mitotic ce 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCBL2
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CCBL2

    miRNA
    Products:
        
    miRTarBase miRNAs that target CCBL2:
    hsa-let-7b-5p (MIRT005220), hsa-mir-124-3p (MIRT022902), hsa-mir-340-5p (MIRT019587)

    Block miRNA regulation of human, mouse, rat CCBL2 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate CCBL2:
    hsa-miR-3659 hsa-miR-214 hsa-miR-885-3p hsa-miR-1258 hsa-miR-3148 hsa-miR-761
    SwitchGear 3'UTR luciferase reporter plasmidCCBL2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for CCBL2
    Predesigned siRNA for gene silencing in human, mouse, rat CCBL2

    Gene Editing
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    OriGene ORF clones in mouse, rat for CCBL2
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    GenScript: all cDNA clones in your preferred vector (see all 2): CCBL2 (NM_001008661)
    Sino Biological Human cDNA Clone for CCBL2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCBL2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCBL2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCBL2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion3
    cytosol2
    nucleus1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--

    Find genes that share ontologies with CCBL2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for CCBL2 About    
    See pathways by source

    SuperPathContained pathways About
    1Tryptophan metabolism
    Tryptophan metabolism0.46
    Tryptophan catabolism0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    tryptophan degradation via kynurenine0.00
    4Chemical carcinogenesis
    Chemical carcinogenesis0.71
    5Selenocompound metabolism
    Selenocompound metabolism


    Find genes that share SuperPaths with CCBL2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for CCBL2
        tryptophan degradation via kynurenine


    1 Reactome Pathway for CCBL2
        Tryptophan catabolism


    4 Kegg Pathways  (Kegg details for CCBL2):
        Tryptophan metabolism
    Selenocompound metabolism
    Metabolic pathways
    Chemical carcinogenesis

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CCBL2
    Interactions:

        Search GeneGlobe Interaction Network for CCBL2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for CCBL2 (Q6YP212, 3 ENSP000002605084) via UniProtKB, MINT, STRING, and/or I2D (see all 56)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RABIFP472242, 3, ENSP000003562314MINT-64701 I2D: score=5 STRING: ENSP00000356231
    GNB2L1P632443, ENSP000003660134I2D: score=5 STRING: ENSP00000366013
    MAP1LC3BQ9GZQ83, ENSP000002686074I2D: score=2 STRING: ENSP00000268607
    GIGYF1O754203I2D: score=5 
    RPS20P608663I2D: score=5 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00061032-oxoglutarate metabolic process IEA--
    GO:0006520cellular amino acid metabolic process ISS--
    GO:0006569tryptophan catabolic process TAS--
    GO:0009058biosynthetic process IEA--
    GO:0034641cellular nitrogen compound metabolic process TAS--

    Find genes that share ontologies with CCBL2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CCBL2 (KAT3)

    3 HMDB Compounds for CCBL2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Kynurenic acid4-hydroxy-2-Quinolinecarboxylic acid (see all 13)492-27-3--
    L-Kynurenine(S)-alpha,2-diamino-3-hydroxy-gamma-oxo-Benzenebutanoate (see all 15)343-65-7--
    Pyridoxal 5'-phosphateApolon B6 (see all 27)54-47-7--

    2 DrugBank Compounds for CCBL2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Glutamic Acid(2S)-2-Aminopentanedioic acid (see all 15)56-86-0target--17139284 17016423
    Pyridoxal PhosphateCodecarboxylase (see all 9)54-47-7targetcofactor17139284 17016423



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CCBL2 gene (2 alternative transcripts): 
    NM_001008661.2  NM_001008662.2  

    Unigene Cluster for CCBL2:

    Cysteine conjugate-beta lyase 2
    Hs.481898  [show with all ESTs]
    Unigene Representative Sequence: NM_001162536
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000446900 ENST00000370491 ENST00000260508(uc001dmp.2 uc001dmq.2 uc001dmr.2)
    ENST00000370486 ENST00000370485
    miRNA
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    6 qRT-PCR Assays for microRNAs that regulate CCBL2:
    hsa-miR-3659 hsa-miR-214 hsa-miR-885-3p hsa-miR-1258 hsa-miR-3148 hsa-miR-761
    SwitchGear 3'UTR luciferase reporter plasmidCCBL2 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat CCBL2
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    Additional mRNA sequence: 

    AF091090.1 AK057176.1 AK301326.1 AK315917.1 AL832554.1 AL832785.1 AL833593.1 AY028624.1 
    BC000819.1 BC012942.1 CR450282.1 

    19 DOTS entries:

    DT.451810  DT.100890982  DT.99951103  DT.100890948  DT.121403113  DT.100792133  DT.95111677  DT.453763 
    DT.117400  DT.91729054  DT.100792129  DT.100792132  DT.121402999  DT.40295134  DT.97865264  DT.100890975 
    DT.100891007  DT.121322206  DT.87016183 

    Selected AceView cDNA sequences (see all 309):

    W21563 AA311510 BI819474 BQ435441 AA313907 AL709359 AA999952 F10770 
    AI095897 AI492160 AI348507 AW181890 AI652463 CR615627 AI674994 AA453280 
    BQ027052 AI024158 AI538911 AI218489 AY028624 NM_019610 AW877722 BX501587 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CCBL2 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b · 17c
    SP1:                          -     -                       -                                   -     -                                       
    SP2:                          -     -                                                           -     -                                       
    SP3:                    -     -     -                       -                                   -     -                                       
    SP4:                                                                                                                                          
    SP5:                                                                                                                                          


    ECgene alternative splicing isoforms for CCBL2

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CCBL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CCBL2 Expression
    About this image


    CCBL2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Pre-Granulosa Cells Primordial Follicle
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    CCBL2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCBL2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.481898
        Custom PCR Arrays for CCBL2
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCBL2

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CCBL2 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccbl21 , 5 cysteine conjugate-beta lyase 21, 5 84.21(n)1
    85(a)1
      3 (66.69 cM)5
    2299051  NM_173763.31  NP_776124.11 
     1427010515 
    chicken
    (Gallus gallus)
    Aves CCBL21 cysteine conjugate-beta lyase 2 73.44(n)
    72.41(a)
      424517  XM_004936630.1  XP_004936687.1 
    lizard
    (Anolis carolinensis)
    Reptilia CCBL26
    cysteine conjugate-beta lyase 2
    61(a)
    1 ↔ 1
    4(95849642-95876842)
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch73-97h19.21 si:ch73-97h19.2 66.75(n)
    67.47(a)
      571201  XM_694768.4  XP_699860.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG69501 CG6950 53.53(n)
    55.05(a)
      41433  NM_176463.2  NP_788640.1 
    worm
    (Caenorhabditis elegans)
    Secernentea nkat-11 nkat-1 53.08(n)
    47.09(a)
      185086  NM_077954.1  NP_510355.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes BNA31 BNA3 48.94(n)
    34.84(a)
      853386   NP_012475.3 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G776701 AT1G77670 50.62(n)
    41.71(a)
      844103  NM_106416.1  NP_177890.1 
    rice
    (Oryza sativa)
    Liliopsida Os09g04538001 Os09g0453800 51.6(n)
    40.91(a)
      4347242  NM_001069882.1  NP_001063347.1 


    ENSEMBL Gene Tree for CCBL2 (if available)
    TreeFam Gene Tree for CCBL2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CCBL2 gene
    CCBL12  TAT2  
    1 SIMAP similar gene for CCBL2 using alignment to 2 protein entries:     KAT3_HUMAN (see all proteins):
    CCBL1

    Find genes that share paralogs with CCBL2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for CCBL2 (see all 900)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2007218801,2
    C--89401058(+) GAGAG-/GAAAAA 2 -- ds50010--------
    rs113076241,2
    C--89401059(+) AGAGAG/-AAAAA 2 -- ds50012Minor allele frequency- -:0.25NA 4
    rs1881737811,2
    --89401092(+) AGACAC/GCAACA 2 -- ds50010--------
    rs1137957131,2
    F--89401096(+) AGCAAT/CAATGA 2 -- ds50011Minor allele frequency- C:0.00CSA 1
    rs1113834581,2
    F--89401119(+) GGTCAC/TTATAG 2 -- ds50011Minor allele frequency- T:0.00CSA 1
    rs2018460681,2
    C--89401163(+) AAGCCA/GACTTG 2 -- ds50010--------
    rs729635341,2
    C,F--89401190(+) GGGAGC/TGACCA 2 -- ds50012Minor allele frequency- T:0.15WA 120
    rs1925872021,2
    --89401234(+) CATCAC/TCAGAG 2 -- ds50010--------
    rs1397048321,2
    --89401240(+) CAGAGA/GTGAGG 2 -- ds50010--------
    rs799429251,2
    C,F--89401268(+) GCCTGG/ACTAAT 2 -- ds50011Minor allele frequency- A:0.03WA 118

    HapMap Linkage Disequilibrium report for CCBL2 (89401456 - 89458643 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for CCBL2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv830525CNV Loss17160897
    nsv462472CNV Loss19166990
    esv7403CNV Gain19470904
    nsv830537CNV Gain17160897
    dgv68e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CCBL2
    DNA2.0 Custom Variant and Variant Library Synthesis for CCBL2

    (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.)
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    OMIM gene information: 610656    OMIM disorders: --


    Find genes that share disorders with CCBL2           About GenesLikeMe

    Genetic Association Database (GAD): CCBL2
    Human Genome Epidemiology (HuGE) Navigator: CCBL2 (2 documents)

    Export disorders for CCBL2 gene to outside databases

    (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)
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    PubMed articles for CCBL2 gene, integrated from 10 sources (see all 26):
    (articles sorted by number of sources associating them with CCBL2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of kynurenine aminotransferase III, a novel member of a phylogenetically conserved KAT family. (PubMed id 16376499)1, 2, 3, 9 Yu P.... Cai T. (Gene 2006)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    6. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    7. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. (PubMed id 22001757)1 Chambers J.C....Kooner J.S. (Nat. Genet. 2011)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    9. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    10. The kynurenine pathway in major depression: haplotype analysis of three related functional candidate genes. (PubMed id 21492941)1 Claes S....Rothermundt M. (Psychiatry Res 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 56267 HGNC: 33238 AceView: KAT3 Ensembl:ENSG00000137944 euGenes: HUgn56267
    ECgene: CCBL2 Kegg: 56267 H-InvDB: CCBL2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CCBL2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for CCBL2 gene:
    Search GeneIP for patents involving CCBL2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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