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CLTB Gene

protein-coding   GIFtS: 64
GCID: GC05M175819

Clathrin, Light Chain B

(Previous names: clathrin, light polypeptide (Lcb))
Microbiology & Infectious Diseases Congress
  See related diseases
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
Clathrin, Light Chain B1 2
Clathrin, Light Polypeptide (Lcb)1 2
LCB2
Clathrin Light Chain B2
Clathrin, Light Chain (Lcb)2
Lcb3

External Ids:    HGNC: 20911   Entrez Gene: 12122   Ensembl: ENSG000001754167   OMIM: 1189705   UniProtKB: P094973   

Export aliases for CLTB gene to outside databases

Previous GC identifers: GC05M176168 GC05M176638 GC05M175754 GC05M175800 GC05M175752 GC05M170744


(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 CLTB Gene:
Clathrin is a large, soluble protein composed of heavy and light chains. It functions as the main structural
component of the lattice-type cytoplasmic face of coated pits and vesicles which entrap specific macromolecules
during receptor-mediated endocytosis. This gene encodes one of two clathrin light chain proteins which are
believed to function as regulatory elements. Alternative splicing results in multiple transcript variants.
(provided by RefSeq, Jul 2008)

GeneCards Summary for CLTB Gene:
CLTB (clathrin, light chain B) is a protein-coding gene. Diseases associated with CLTB include acrodermatitis, and huntington's disease. GO annotations related to this gene include peptide binding and structural molecule activity. An important paralog of this gene is CLTA.

UniProtKB/Swiss-Prot: CLCB_HUMAN, P09497
Function: Clathrin is the major protein of the polyhedral coat of coated pits and vesicles




(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_000005.10  NT_023133.14  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CLTB gene promoter:
         C/EBPbeta   CUTL1   NF-E2 p45   C/EBPalpha   Arnt   E47   CREB   deltaCREB   Hand1   NF-E2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCLTB promoter sequence
   Search Chromatin IP Primers for CLTB

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


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

Entrez Gene cytogenetic band: 5q35   Ensembl cytogenetic band:  5q35.2   HGNC cytogenetic band: 5q35.2

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

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M175819:  view genomic region     (about GC identifiers)

Start:
175,819,456 bp from pter      End:
175,843,570 bp from pter
Size:
24,115 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CLCB_HUMAN, P09497 (See protein sequence)
Recommended Name: Clathrin light chain B  
Size: 229 amino acids; 25190 Da
Subunit: Clathrin coats are formed from molecules containing 3 heavy chains and 3 light chains. Interacts (via
N-terminus) with HIP1. Interacts with HIP1R
Secondary accessions: Q53Y37 Q6FHW1
Alternative splicing: 2 isoforms:  P09497-1   P09497-2   

Explore the universe of human proteins at neXtProt for CLTB: NX_P09497

Explore proteomics data for CLTB at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys204, Lys223
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_001825.1  NP_009028.1  

    ENSEMBL proteins: 
     ENSP00000309415   ENSP00000310812   ENSP00000424739   ENSP00000422978   ENSP00000427229  
    Reactome Protein details: P09497

    CLTB Human Recombinant Protein Products:

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    Abcam antibodies for CLTB (P09496, P09497)
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    CLTB Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for CLTB
    Cloud-Clone Corp. CLIAs for CLTB


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR000996 Clathrin_L-chain

    Graphical View of Domain Structure for InterPro Entry P09497

    ProtoNet protein and cluster: P09497

    1 Blocks protein domain: IPB000996 Clathrin light chain

    UniProtKB/Swiss-Prot: CLCB_HUMAN, P09497
    Similarity: Belongs to the clathrin light chain family


    CLTB for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CLCB_HUMAN, P09497
    Function: Clathrin is the major protein of the polyhedral coat of coated pits and vesicles

         Genatlas biochemistry entry for CLTB:
    clathrin,light chain B (Lcb),component of coated vesicles and coated pits,translocated to plasma membrane through
    AP2 binding,also expressed in synaptic vesicles

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding ----
    GO:0005198structural molecule activity IEA--
    GO:0005515protein binding IPI11889126
    GO:0042277peptide binding IEA--
         
    CLTB for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CLTB:
     Decreased POU5F1-GFP protein e  Decreased homologous recombina 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CLTB
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CLTB
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CLTB

    miRNA
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    miRTarBase miRNAs that target CLTB:
    hsa-mir-34a-5p (MIRT025306)

    Block miRNA regulation of human, mouse, rat CLTB using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate CLTB:
    hsa-miR-595 hsa-miR-362-3p hsa-miR-3184 hsa-miR-520a-5p hsa-miR-329 hsa-miR-423-5p hsa-miR-525-5p hsa-miR-2115
    SwitchGear 3'UTR luciferase reporter plasmidCLTB 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CLTB

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    GenScript: all cDNA clones in your preferred vector (see all 2): CLTB (NM_007097)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CLTB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CLTB

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLTB


    (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 UniProtKB/Swiss-Prot
    CLCB_HUMAN, P09497: Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Membrane,
    coated pit; Peripheral membrane protein; Cytoplasmic side. Note=Cytoplasmic face of coated pits and vesicles
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    golgi apparatus2
    nucleus2
    plasma membrane2
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005802trans-Golgi network IEA--
    GO:0005886plasma membrane ----
    GO:0030118clathrin coat NAS3267234
    GO:0030130clathrin coat of trans-Golgi network vesicle IEA--
    GO:0030132clathrin coat of coated pit IEA--

    CLTB for ontologies           About GeneDecksing


    (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 CLTB About   (see all 17)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Clathrin dependent protein traffic
    Clathrin dependent protein traffic0.66
    wtCFTR and delta508 CFTR traffic Generic schema norm and CF 0.37
    Transport Clathrin coated vesicle cycle0.66
    wtCFTR and delta508 traffic Clathrin coated vesicles formation norm and CF 0.35
    2Endocytic Trafficking of EGFR
    Endocytic Trafficking of EGFR0.36
    Cholesterol and Sphingolipids transport Influx to the early endosome in lung normal and CF 0.35
    3Gap junction trafficking
    Gap junction trafficking0.93
    Formation of annular gap junctions0.00
    Gap junction trafficking and regulation0.93
    Gap junction degradation0.00
    4CDK-mediated phosphorylation and removal of Cdc6
    PCP/CE pathway0.70
    WNT5A-dependent internalization of FZD2, FZD5 and ROR20.00
    WNT5A-dependent internalization of FZD40.00
    5beta-catenin independent WNT signaling
    beta-catenin independent WNT signaling0.79
    Signaling by Wnt0.79

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CLTB
        CTLA4 Signaling
    Endocytic Trafficking of EGFR
    Remodeling of Adherens Junctions

    5 GeneGo (Thomson Reuters) Pathways for CLTB
        wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
    Development Angiotensin signaling via beta-Arrestin
    Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)
    wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
    Transport Clathrin-coated vesicle cycle

    1 BioSystems Pathway for CLTB
        Arf1 pathway

    3 Reactome Pathways for CLTB
        Gap junction degradation
    Formation of annular gap junctions
    WNT5A-dependent internalization of FZD4


    Selected Kegg Pathways  (Kegg details for CLTB) (see all 6):
        Lysosome
    Endocytosis
    Synaptic vesicle cycle
    Endocrine and other factor-regulated calcium reabsorption
    Huntington's disease


    CLTB for pathways           About GeneDecksing

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

        GeneGlobe Interaction Network for CLTB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CLTB (P094972, 3 ENSP000003094154) via UniProtKB, MINT, STRING, and/or I2D (see all 100)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583, ENSP000003494674I2D: score=2 STRING: ENSP00000349467
    CALM2P621583I2D: score=2 
    CALM3P621583I2D: score=2 
    PQBP1O608282, 3, ENSP000003657474MINT-63179 I2D: score=4 STRING: ENSP00000365747
    CSNK2A2P197843, ENSP000002625064I2D: score=2 STRING: ENSP00000262506
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport IEA--
    GO:0016192vesicle-mediated transport IEA--

    CLTB for ontologies           About GeneDecksing



    (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 CLTB (CLCB)



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CLTB gene (2 alternative transcripts): 
    NM_001834.3  NM_007097.3  

    Unigene Cluster for CLTB:

    Clathrin, light chain B
    Hs.484241  [show with all ESTs]
    Unigene Representative Sequence: NR_045724
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000310418(uc003meh.3) ENST00000345807(uc003mei.3) ENST00000508425
    ENST00000510734(uc011dfn.2) ENST00000502877 ENST00000507821 ENST00000509319

    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Block miRNA regulation of human, mouse, rat CLTB using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate CLTB:
    hsa-miR-595 hsa-miR-362-3p hsa-miR-3184 hsa-miR-520a-5p hsa-miR-329 hsa-miR-423-5p hsa-miR-525-5p hsa-miR-2115
    SwitchGear 3'UTR luciferase reporter plasmidCLTB 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CLTB
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    GenScript: all cDNA clones in your preferred vector (see all 2): CLTB (NM_007097)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CLTB
    Primer
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    OriGene qPCR primer pairs and template standards for CLTB
    OriGene qSTAR qPCR primer pairs in human, mouse for CLTB
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CLTB
      QuantiTect SYBR Green Assays in human, mouse, rat CLTB
      QuantiFast Probe-based Assays in human, mouse, rat CLTB

    Additional mRNA sequence: 

    AK300200.1 BC006332.2 BC006457.1 BT007028.1 CR536577.1 M20470.1 NR_045724.1 

    14 DOTS entries:

    DT.115757  DT.100037858  DT.120886628  DT.120886599  DT.100745225  DT.100790255  DT.120886670  DT.97854602 
    DT.91688345  DT.100745226  DT.86793375  DT.97854597  DT.120886720  DT.95087046 

    Selected AceView cDNA sequences (see all 182):

    BM563208 F08079 BU944727 BI194540 CB163616 AI355725 T63830 T27985 
    BQ271549 AI186474 NM_001834 AW575961 BG054969 AW950247 AW170546 BE676639 
    AI088421 AA587195 BM713601 BT007028 BU077493 AI128183 BU859703 AW182887 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CLTB (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d · 7e · 7f
    SP1:                                      -                                                                     
    SP2:                                      -                             -                                       
    SP3:                                      -                       -     -     -     -                           
    SP4:                                      -           -     -     -     -     -                                 
    SP5:                                                                                                            


    ECgene alternative splicing isoforms for CLTB

    (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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    CLTB expression in normal human tissues (normalized intensities)      CLTB embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCTGGGCCT
    CLTB Expression
    About this image


    CLTB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)
             Metencephalon
     
     Eye (Sensory Organs)
             Mature Rod Bipolar Cells Inner Nuclear Layer
     
     Neurons
             Mature Rod Bipolar Cells Inner Nuclear Layer
    CLTB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CLTB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.484241
        Custom PCR Arrays for CLTB
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat CLTB
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLTB

    (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 animals.

    Orthologs for CLTB gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cltb1 , 5 clathrin, light polypeptide (Lcb)1, 5 89.73(n)1
    95.26(a)1
      13 (28.84 cM)5
    743251  NM_028870.31  NP_083146.11 
     545924015 
    chicken
    (Gallus gallus)
    Aves CLTB1 clathrin, light chain B 79.39(n)
    80.19(a)
      416226  NM_001030609.1  NP_001025780.1 
    lizard
    (Anolis carolinensis)
    Reptilia CLTB6
    clathrin, light chain B
    72(a)
    1 ↔ 1
    GL343548.1(302366-325127)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC687042 hypothetical protein MGC68704 76.64(n)    BC060412.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003298791 clathrin light chain B-like 68.91(n)
    64.9(a)
      100329879  XM_002666797.3  XP_002666843.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Clc6
    Clathrin light chain
    35(a)
    1 → many
    3L(20234153-20236835)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CLTB gene
    CLTA2  
    1 SIMAP similar gene for CLTB using alignment to 4 protein entries:     CLCB_HUMAN (see all proteins):
    CLTA

    CLTB for paralogs           About GeneDecksing



    (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)
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    Selected SNPs for CLTB (see all 513)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs131621111,2
    C,F,H--170743642(+) GATGAG/TCCCAG 3 -- ds500116Minor allele frequency- T:0.10NS EA NA CSA WA 1872
    rs1897148631,2
    --170743692(+) CACATC/TCAGAA 3 -- ds50010--------
    rs1403229531,2
    --170743720(+) AGGAGA/GGGAGT 3 -- ds50010--------
    rs1503836781,2
    --170743980(+) CTTGGA/CTGGGA 3 -- ds50010--------
    rs1812289091,2
    --170744048(+) AAACCA/GAGCCC 3 -- ds50010--------
    rs1154707761,2
    C,F--170744088(+) AGAATG/AATAAT 3 -- ut31 nc-transcript-variant2Minor allele frequency- A:0.03WA NA 238
    rs1848887061,2
    --170744094(+) ATAATA/TAATAA 3 -- ut31 nc-transcript-variant0--------
    rs759705121,2
    --170744222(+) GGAGCA/GAGGCG 3 -- ut31 nc-transcript-variant0--------
    rs58661,2
    C,F,A,H--170744231(+) CGTGAT/CGGGGT 3 -- ut31 nc-transcript-variantese326Minor allele frequency- C:0.30EA MN NS NA WA CSA 3885
    rs799224291,2
    F--170744403(+) GGCGTC/TTGCTT 5 Q syn11Minor allele frequency- T:0.01WA 118

    HapMap Linkage Disequilibrium report for CLTB (175819456 - 175843570 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CLTB: --
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing CLTB
    DNA2.0 Custom Variant and Variant Library Synthesis for CLTB

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 118970    OMIM disorders: --

    6 diseases for CLTB:    About MalaCards
    acrodermatitis    huntington's disease    hiv-1    schizophrenia
    obesity    neuronitis


    CLTB for disorders           About GeneDecksing

    Genetic Association Database (GAD): CLTB
    Human Genome Epidemiology (HuGE) Navigator: CLTB (3 documents)

    Export disorders for CLTB 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 CLTB gene, integrated from 10 sources (see all 43):
    (articles sorted by number of sources associating them with CLTB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Chromosomal location and some structural features of human clathrin light-chain genes (CLTA and CLTB). (PubMed id 7713494)1, 3, 9 Ponnambalam S....Parham P. (Genomics 1994)
    2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    3. Huntingtin-interacting protein 1 (Hip1) and Hip1-related protein (Hip1R) bind the conserved sequence of clathrin light chains and thereby influence clathrin assembly in vitro and actin distribution in vivo. (PubMed id 15533940)1, 2 Chen C.-Y. and Brodsky F.M. (J. Biol. Chem. 2005)
    4. 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. (Genome Res. 2004)
    5. HIP1 and HIP12 display differential binding to F-actin, AP2, and clathrin. Identification of a novel interaction with clathrin light chain. (PubMed id 11889126)1, 2 Legendre-Guillemin V.... McPherson P.S. (J. Biol. Chem. 2002)
    6. Structure of human clathrin light chains. Conservation of light chain polymorphism in three mammalian species. (PubMed id 3267234)1, 2 Jackson A.P. and Parham P. (J. Biol. Chem. 1988)
    7. The P-body component USP52/PAN2 is a novel regulator of HIF1A mRNA stability. (PubMed id 23398456)1 Bett J.S....Hay R.T. (Biochem. J. 2013)
    8. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    9. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (PLoS ONE 2012)
    10. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)

    (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: 1212 HGNC: 2091 AceView: CLTB Ensembl:ENSG00000175416 euGenes: HUgn1212
    ECgene: CLTB Kegg: 1212 H-InvDB: CLTB

    (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 CLTB Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CLTB Genetics and Cytogenetics in Oncology and Haematology

    (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 CLTB gene:
    Search GeneIP for patents involving CLTB

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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