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CLVS2 Gene

protein-coding   GIFtS: 38

GC06P120894
clavesin 2
(Previous names: chromosome 6 open reading frame 212, chromosome 6 open reading frame 213, retinaldehyde binding protein 1-like 2 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: C6orf212, C6orf213, RLBP1L2)
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
clavesin 21 2     RLBP1L22 3
bA160A10.41 2     chromosome 6 open reading frame 2121
retinaldehyde binding protein 1-like 21 2     chromosome 6 open reading frame 2131
Retinaldehyde-binding protein 1-like 22 3     OTTHUMP000000171222
C6orf2122 3     clavesin-22
C6orf2132 3     MGC1205722

External Ids:    HGNC: 230461   Entrez Gene: 1348292   Ensembl: ENSG000001463527   UniProtKB: Q5SYC13   

Export aliases for CLVS2 gene to outside databases

Previous GC identifer: GC06P123360


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

UniProtKB/Swiss-Prot: CLVS2_HUMAN, Q5SYC1
Function: Required for normal morphology of late endosomes and/or lysosomes in neurons (By similarity). Binds
phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2)


(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for CLVS2
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for CLVS2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for CLVS2 


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

Entrez Gene cytogenetic band: 6q22.31   Ensembl cytogenetic band:  6q22.31   HGNC cytogenetic band: 6q22.31

CLVS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CLVS2 gene location

GeneLoc gene densities for chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P120894:  view genomic region     (about GC identifiers)

Start:
120,894,951 bp from pter
End:
120,962,427 bp from pter
Size:
67,477 bases
Orientation:
plus strand

1 alternative location:
Chr6+ 123,317,116-123,385,612     
RefSeq DNA sequence:
NC_000006.11  NT_025741.15  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: CLVS2_HUMAN, Q5SYC1 (See protein sequence)
Recommended Name: Clavesin-2  
Size: 327 amino acids; 38000 Da
Subunit: Forms a complex with clathrin heavy chain and gamma-adaptin
Subcellular location: Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein (By similarity).
Cytoplasmic vesicle, clathrin-coated vesicle (By similarity). Early endosome membrane; Peripheral membrane protein
Miscellaneous: Binding to PtdIns(3,5)P2 is not required for localization (By similarity)
Secondary accessions: B3KTG5 B4DHL0 C8UZT4 Q5SYC0
Alternative splicing: 2 isoforms:  Q5SYC1-1   Q5SYC1-2   

Explore the universe of human proteins at neXtProt for CLVS2: NX_Q5SYC1 

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_001010852.2  

    ENSEMBL proteins: 
    ENSP00000275162 ENSP00000357423 ENSP00000357422 ENSP00000416047 


    Human Recombinant Proteins 
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    OriGene Protein Over-expression Lysate: CLVS2
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    5/8 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 8):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622 intracellular IEA--
    GO:0005768 endosome IDA19651769
    GO:0005794 Golgi apparatus IEA--
    GO:0005802 trans-Golgi network ISS--
    GO:0016020 membrane IEA--
    About this table

    CLVS2 for ontologies           About GeneDecksing



    Antibodies for CLVS2: 
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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CLVS2 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR001071 CRAL-bd_toc_tran
     IPR001251 CRAL-bd_TRIO_C
     IPR011074 Sec14p-like_N
     IPR008273 CRAL-bd_TRIO_N

    Graphical View of Domain Structure for InterPro Entry Q5SYC1

    ProtoNet protein and cluster: Q5SYC1

    2 Blocks protein families:
    IPB001071 Cellular retinaldehyde-binding protein signature
    IPB001251 Cellular retinaldehyde-binding (CRAL)/Triple function domain (TRIO)


    UniProtKB/Swiss-Prot: CLVS2_HUMAN, Q5SYC1
    Domain: The CRAL-TRIO domain is required for targeting to the membrane and for binding PtdIns(3,5)P2
    Similarity: Contains 1 CRAL-TRIO domain


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    UniProtKB/Swiss-Prot: CLVS2_HUMAN, Q5SYC1
    Function: Required for normal morphology of late endosomes and/or lysosomes in neurons (By similarity). Binds
    phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2)

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
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    Gene
    Editing:
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    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
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    OriGene GFP tagged cDNA clones in CMV expression vector: CLVS2
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: CLVS2
    OriGene untagged cDNA clones in CMV expression vector: CLVS2
    OriGene 3'-UTR clone: CLVS2 
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    Cell
    Lines:
      
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    3 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215 transporter activity IEA--
    GO:0008289 lipid binding IEA--
    GO:0080025 phosphatidylinositol-3,5-bisphosphate binding IDA19651769
    About this table

    CLVS2 for ontologies           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section

        SABiosciences Custom Pathway-Focused PCR Arrays for CLVS2 

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CLVS2

    3 Gene Ontology (GO) biological process terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810 transport ----
    GO:0007040 lysosome organization ISS--
    GO:0055085 transmembrane transport ----
    About this table

    CLVS2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section
    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CLVS2


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for CLVS2
    Sigma-Aldrich shRNA for CLVS2
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): CLVS2
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    OriGene basic RS shRNA (see all 2): CLVS2
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    miRNA: Sigma-Aldrich microRNA Mimics for CLVS2
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    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: CLVS2
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: CLVS2
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    Primers: OriGene genome-wide validated SYBR primer pairs: CLVS2
    Browse OriGene validated miRNA SYBR primer pairs 
    Search SABiosciences RT2 qPCR Primer Assays for CLVS2

    REFSEQ mRNAs for CLVS2 gene: 

    NM_001010852.2  

    Additional cDNA sequence: 

    AK095527.1 AK295158.1 BC101376.1 BC101377.2 

    1 DOTS entry:

    DT.99936993 

    3 AceView cDNA sequences:

    AK095527 BE796967 BG899217 

    Unigene Cluster for CLVS2:

    Clavesin 2
    Hs.486361  [show with all ESTs]
    Unigene Representative Sequence: AK095527


    GeneLoc Exon Structure

    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000275162(uc003pzi.1) ENST00000368438 ENST00000368437 ENST00000412300


    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    CLVS2 expression in normal and diseased human tissues

    1  / 2

    1 probe-set matching CLVS2 gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    1562443_at2 U133Plus2 2 1.00 0.64 -- -- -- -- -- -- --
    About this table
    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    CLVS2 gene expression
    CLVS2 gene electronic northern expression
    CLVS2 gene sage expression
    About these images

    CGAP SAGE TAG: TTAATGTAGC

    SOURCE GeneReport for Unigene cluster: Hs.486361
    Primers: OriGene genome-wide validated SYBR primer pairs: CLVS2
    Browse OriGene validated miRNA SYBR primer pairs 
    Search SABiosciences RT2 qPCR Primer Assays for CLVS2
        SABiosciences Custom PCR Arrays for CLVS2 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for CLVS2 gene from 5/8 species (see all 8)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    RLBP1L21   -- retinaldehyde binding protein 1-like 2 94.29(n)
    100(a)
    484109  XM_541226.2  XP_541226.2 
    chimpanzee
    (Pan troglodytes)
    RLBP1L21   -- retinaldehyde binding protein 1-like 2 99.8(n)
    100(a)
    472117  XM_527496.2  XP_527496.1 
    cow
    (Bos taurus)
    RLBP1L21   -- retinaldehyde binding protein 1-like 2 93.58(n)
    99.69(a)
    534359  XM_614107.3  XP_614107.3 
    rat
    (Rattus norvegicus)
    Rlbp1l21   -- retinaldehyde binding protein 1-like 2 91.13(n)
    98.78(a)
    361459  XM_341738.3  XP_341739.1 
    mouse
    (Mus musculus)
    Clvs25
    Rlbp1l21
    10 (18.62 cM)5
    clavesin 25
    retinaldehyde binding protein 1-like 21
    90.72(n)1
    97.86(a)1
    2158901  NM_175448.31  NP_780657.11 
     AK0393085  AK0498965  (see all 16)
    About this table        Species with no ortholog for CLVS2

    ENSEMBL Gene Tree for CLVS2 (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for CLVS2 gene
    TTPAL2  RLBP12  CLVS12  TTPA2  

    CLVS2 for paralogs           About GeneDecksing



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for CLVS2
         2 Indels: 81573 93994
    QIAGEN SeqTarget long-range PCR primers for resequencing CLVS2 

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
      --

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

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

    5 PubMed articles for CLVS2 gene integrated from 7 sources:
    (articles sorted by number of sources associating them with CLVS2)
    1. The clavesin family: neuron-specific lipid- and clathrin-binding Sec14 proteins regulating lysosomal morphology. (PubMed id 19651769)1, 2, 3 Katoh Y....McPherson P.S. (2009)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    4. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)2 Mungall A.J.... Beck S. (2003)
    5. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 134829 HGNC: 23046 AceView: C6orf213 Ensembl:ENSG00000146352 euGenes: HUgn134829
    ECgene: CLVS2 H-InvDB: CLVS2

    (According to HUGE)
    About This Section
      --

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
      --

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    Patent Information for CLVS2 gene:
    Search GeneIP for patents involving CLVS2

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



    (Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
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    About This Section

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