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HAPLN4 Gene

protein-coding   GIFtS: 53

GC19M019230
hyaluronan and proteoglycan link protein 4
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
BRAL2 1, 2, 3
KIAA1926 1, 2, 3
Descriptions
Brain link protein 2 2, 3
hyaluronan and proteoglycan link protein 4 2
External Ids
HGNC: 313571
Entrez Gene: 4040372
UniProtKB: Q86UW83
Ensembl: ENSG000001876647
Search outside databases for aliases for HAPLN4 gene

Previous GC identifers: GC19M019227 GC19M019229

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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UniProtKB/Swiss-Prot: HPLN4_HUMAN, Q86UW8
Function: Binds to hyaluronic acid and may be involved in formation of the extracellular matrix (By
similarity)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the HAPLN4 gene  

Entrez Gene cytogenetic band: 19p13.1   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p13.1

HAPLN4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M019230:     (about GC identifiers)

Start:
19,226,557 bp from pter
End:
19,245,178 bp from pter
Size:
18,622 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000019.8  NT_011295.10  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: HPLN4_HUMAN, Q86UW8 (See protein sequence)
Recommended Name: Hyaluronan and proteoglycan link protein 4 precursor  
Size: 402 amino acids; 42801 Da
Subcellular location: Secreted, extracellular space, extracellular matrix (By similarity)
Secondary accessions: Q96PW2

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_075378.1  

    ENSEMBL proteins: 
    ENSP00000291481 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (HAPLN4)
    Human Recombinant Proteins from Abnova (HAPLN4)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    2 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576 extracellular region IEA--
    GO:0005578 proteinaceous extracellular matrix IEA--
    About this table

    Antibodies for HAPLN4: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for HAPLN4
    R&D Systems Antibodies for HAPLN4
    Antibodies from Abcam (HAPLN4), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (HAPLN4)
    Novus Biologicals Antibodies for HAPLN4

    Assays for HAPLN4: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    5/6 InterPro domains/families (see all 6 ):
     IPR003598 Ig_sub2
     IPR007110 Ig-like
     IPR016186 C-type_lectin-like
     IPR013783 Ig-like_fold
     IPR013106 Ig_V-set


       GeneDecks  HAPLN4 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q86UW8

    ProtoNet protein and cluster: Q86UW8

    3 Blocks protein families:
    IPB000538 Link domain
    IPB003598 Immunoglobulin C-2 type
    IPB013106 Immunoglobulin V-set


    UniProtKB/Swiss-Prot: HPLN4_HUMAN, Q86UW8
    Similarity: Belongs to the HAPLN family
    Similarity: Contains 1 Ig-like C2-type (immunoglobulin-like) domain
    Similarity: Contains 2 Link domains

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (HAPLN4)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (HAPLN4)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_023002

                  Applied Biosystems Silencer® siRNAs for HAPLN4

                  Sigma-Aldrich siRNA for HAPLN4  
                         Sigma-Aldrich shRNA for HAPLN4  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_023002
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_023002
                                     untagged cDNA clone in CMV expression vector: NM_023002 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_023002

    UniProtKB/Swiss-Prot: HPLN4_HUMAN, Q86UW8
    Function: Binds to hyaluronic acid and may be involved in formation of the extracellular matrix (By
    similarity)

    2 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488 binding IEA--
    GO:0005540 hyaluronic acid binding IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section



    1 Interacting protein for HAPLN4 (ENSP000002914813) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TM6SF1ENSP000003686963STRING (score=.813)
    About this table

    1 Gene Ontology (GO) biological process term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155 cell adhesion IEA--
    About this table
    (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 drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for HAPLN4

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    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 Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (HAPLN4)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (HAPLN4)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_023002

                  Sigma-Aldrich siRNA for HAPLN4  
                         Sigma-Aldrich shRNA for HAPLN4  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_023002  

    REFSEQ mRNAs for HAPLN4 gene: 

    NM_023002.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_023002  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_023002
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_023002
                                     untagged cDNA clone in CMV expression vector: NM_023002 

    Additional cDNA sequence: 

    AB107883.1 AL389941.1 AY262756.1 BC142644.1 BC142698.1 

    3 DOTS entries:

    DT.91691895  DT.121493075  DT.407752 

    24/43 AceView cDNA sequences (see all 43 ):

    BX096239 AK026307 NM_023002 AB107883 AF255923 AY262756 NM_001001524 AA907902 
    NM_203510 AW450803 AB067513 BE047138 BM683825 CK300169 AK097070 BM930363 
    Z42718 BQ184042 BQ189795 AL389941 AW149841 BQ083418 BM682566 AA984368 

    highest scoring ESTs for HAPLN4:

    AY262756 N99350 CK300901 AA324682 AA984368 AB107883 AI826108 AL389941 AW149841 AW450803 

    Unigene Cluster for HAPLN4:

    Hyaluronan and proteoglycan link protein 4
    Hs.367829  [show with all ESTs]
    Unigene Representative Sequence: BC142698


    GeneLoc Exon Structure

    1 Ensembl transcript including schematic representation:
    ENST00000291481  
    (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 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    HAPLN4 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for HAPLN4

    1 / 2 / 3

    3 probe-sets matching HAPLN4 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    46493_at2, 3 U95-B 1 1.00 1.00 1.00 1.00 N99350 0.80 0.88 0.84 1

    235420_at2, 3 U133-B 1 1.00 1.00 -- -- W63783 0.60 0.83 0.73 1

    235420_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  HAPLN4 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: ACAACCAGAC

    SOURCE GeneReport for Unigene cluster: Hs.367829

    UniProtKB/Swiss-Prot: HPLN4_HUMAN, Q86UW8
    Tissue specificity: Expressed predominantly in brain

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for HAPLN4 gene from 5 species
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    chimpanzee
    (Pan troglodytes)
    HAPLN41   -- hyaluronan and proteoglycan link protein 4 99.33(n)
    100(a)
    468776  XM_524163.2  XP_524163.2 
    cow
    (Bos taurus)
    HAPLN41   -- hyaluronan and proteoglycan link protein 4 87.53(n)
    96.26(a)
    539254  XM_585944.3  XP_585944.3 
    rat
    (Rattus norvegicus)
    Hapln41   -- hyaluronan and proteoglycan link protein 4 83.63(n)
    91.23(a)
    361129  XM_341416.3  XP_341417.3 
    mouse
    (Mus musculus)
    Hapln41, 5 85
    hyaluronan and proteoglycan link protein 41, 5 83.96(n)1
    91.48(a)1
    3307901  NM_177900.41  NP_808568.11 
     AB1078825  AI8410645  (see all 12)
    zebrafish
    (Danio rerio)
    si:dkey-19f23.21   -- si:dkey-19f23.2 63.9(n)
    65.81(a)
    559818  NM_001044907.1  NP_001038372.1 
    About this table        Species with no ortholog for HAPLN4

    ENSEMBL Gene Tree for HAPLN4
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for HAPLN4 gene
    HAPLN12  HAPLN32  NCAN2  HAPLN22  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/35 NCBI SNPs in HAPLN4 are shown (see all 35 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 31)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 19 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs9883391,2
    A,C,F,H,O19227407(+) TTATCT/AACCAA 1 -- ng517Minor allele frequency- A:0.03NA EU EA WA 562
    rs20742961,2
    A,C,F,H19234689(+) GGTGTA/GTTAAA 1 -- ng314Minor allele frequency- G:0.39EU EA WA 410
    rs81050941,2
    A,C,F,H19235061(+) acaggC/Tcccaa 1 -- ng314Minor allele frequency- T:0.24EU EA WA 412
    rs81059841,2
    A,C,F,H19235068(+) ccaatT/Ccaagt 1 -- ng314Minor allele frequency- C:0.23EU EA WA 416
    rs172160411,2
    C,F,H19227643(+) GATAGG/ATTTCC 1 -- ut3111Minor allele frequency- A:0.14NA EU EA WA 970
    rs37521701,2
    F19228178(+) ATGGGG/ATGCAG 1 -- ut31 ese31Minor allele frequency- A:0.10EA 1502
    rs20742951,2
    A,C,F19230435(+) CCTGCA/GCTCCC 1 S/S syn1 ese31Minor allele frequency- G:0.23EA 1478
    --
    rs48089341,2
    A,C,F,H19231917(+) TGACAC/TGGTGT 1 -- int14Minor allele frequency- T:0.24EU EA WA 412
    --
    rs72578751,2
    A19233150(+) AGTGGC/TTGGGG 1 -- int10--------
    --
    rs104228931,2
    A19233185(+) TACCCC/GCTACC 1 -- int10--------
    About this table

    HapMap Linkage Disequilibrium images for HAPLN4 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, 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 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    4 PubMed articles for HAPLN4 gene:
    (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, and/or H-InvDB)
    About This Section

    Entrez Gene: 404037 HGNC: 31357 AceView: HAPLN4andTM6SF2 Ensembl:ENSG00000187664 euGenes: HUgn404037
    ECgene: HAPLN4 H-InvDB: HAPLN4
    (According to HUGE)
    About This Section

    HUGE: KIAA1926
    (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

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for HAPLN4:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Millipore Immunoassay Services
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     Predesigned and custom siRNAs for HAPLN4 Antibodies for HAPLN4
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for HAPLN4 Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Antibodies for HAPLN4

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