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    HAPLN2 hyaluronan and proteoglycan link protein 2 [ Homo sapiens (human) ]

    Gene ID: 60484, updated on 3-Apr-2024

    Summary

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    Official Symbol
    HAPLN2provided by HGNC
    Official Full Name
    hyaluronan and proteoglycan link protein 2provided by HGNC
    Primary source
    HGNC:HGNC:17410
    See related
    Ensembl:ENSG00000132702 MIM:619726; AllianceGenome:HGNC:17410
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BRAL1
    Summary
    Predicted to enable hyaluronic acid binding activity. Predicted to be involved in central nervous system development and skeletal system development. Predicted to act upstream of or within establishment of blood-nerve barrier and extracellular matrix assembly. Predicted to be located in extracellular region. Predicted to be active in extracellular matrix. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in brain (RPKM 7.0), prostate (RPKM 0.6) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1q23.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (156601504..156625725)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (155737884..155762124)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (156589207..156595517)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156561722-156562568 Neighboring gene G-patch domain containing 4 (gene/pseudogene) Neighboring gene NAD(P)HX epimerase Neighboring gene uncharacterized LOC101928177 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1874 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156616142-156616665 Neighboring gene BCAN antisense RNA 2 Neighboring gene brevican Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156624901-156625401 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156626597-156627098 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156627099-156627599 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1432 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156628979-156629479 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1433 Neighboring gene VISTA enhancer hs1891 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156636725-156637298 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156642834-156643494 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156643495-156644156 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156645479-156646139 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:156646801-156647461 Neighboring gene nestin

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Reduced expression of the hyaluronan and proteoglycan link proteins in malignant gliomas. Sim H, et al. J Biol Chem, 2009 Sep 25. PMID 19633295, Free PMC Article
    2. Human BRAL1 and BCAN genes that belong to the link-module superfamily are tandemly arranged on chromosome 1q21-23. Nomoto H, et al. Acta Med Okayama, 2002 Feb. PMID 11873941
    3. Bral1, a brain-specific link protein, colocalizing with the versican V2 isoform at the nodes of Ranvier in developing and adult mouse central nervous systems. Oohashi T, et al. Mol Cell Neurosci, 2002 Jan. PMID 11817897
    4. The brain link protein-1 (BRAL1): cDNA cloning, genomic structure, and characterization as a novel link protein expressed in adult brain. Hirakawa S, et al. Biochem Biophys Res Commun, 2000 Oct 5. PMID 11027579
    5. A hyaluronan binding link protein gene family whose members are physically linked adjacent to chondroitin sulfate proteoglycan core protein genes: the missing links. Spicer AP, et al. J Biol Chem, 2003 Jun 6. PMID 12663660

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
      Title: Candidate gene analysis of the human natural killer-1 carbohydrate pathway and perineuronal nets in schizophrenia: B3GAT2 is associated with disease risk and cortical surface area.
    2. Results indicate that HAPLN4 and HAPLN2 are the predominant members of this family in the adult human brain but are strongly reduced in the tumor parenchyma.
      Title: Reduced expression of the hyaluronan and proteoglycan link proteins in malignant gliomas.
    3. This protein has been found differentially expressed in the temporal lobe from patients with schizophrenia.
      Title: Alterations in oligodendrocyte proteins, calcium homeostasis and new potential markers in schizophrenia anterior temporal lobe are revealed by shotgun proteome analysis.
    4. gene locus at chromosome 1q21-23.
      Title: Human BRAL1 and BCAN genes that belong to the link-module superfamily are tandemly arranged on chromosome 1q21-23.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of hyaluronan and proteoglycan link protein 2 (HAPLN2) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hyaluronic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in central nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in establishment of blood-nerve barrier IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in extracellular matrix assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glial cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of neuroblast proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in skeletal system development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in node of Ranvier IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in perineuronal net IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    hyaluronan and proteoglycan link protein 2
    Names
    brain link protein-1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_021817.3 → NP_068589.1  hyaluronan and proteoglycan link protein 2 precursor

      See identical proteins and their annotated locations for NP_068589.1

      Status: VALIDATED

      Source sequence(s)
      AB049054, BC029864
      Consensus CDS
      CCDS1148.1
      UniProtKB/Swiss-Prot
      Q5T3J0, Q9GZV7
      UniProtKB/TrEMBL
      B7Z1Z4
      Related
      ENSP00000255039.1, ENST00000255039.6
      Conserved Domains (3) summary
      cd03518
      Location:148 → 241
      Link_domain_HAPLN_module_1; this link domain is found in the first link module of proteins similar to the vertebrate HAPLN (hyaluronan/HA and proteoglycan binding link) protein family which includes cartilage link protein. The link domain is a HA-binding domain. HAPLNs contain two ...
      cd03519
      Location:250 → 337
      Link_domain_HAPLN_module_2; this link domain is found in the second link module of proteins similar to the vertebrate HAPLN (hyaluronan/HA and proteoglycan binding link) protein family which includes cartilage link protein. The link domain is a HA-binding domain. HAPLNs contain two ...
      cl11960
      Location:49 → 149
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      156601504..156625725
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017002020.2 → XP_016857509.1  hyaluronan and proteoglycan link protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q5T3J0, Q9GZV7
      UniProtKB/TrEMBL
      B7Z1Z4
      Conserved Domains (3) summary
      cd03518
      Location:148 → 241
      Link_domain_HAPLN_module_1; this link domain is found in the first link module of proteins similar to the vertebrate HAPLN (hyaluronan/HA and proteoglycan binding link) protein family which includes cartilage link protein. The link domain is a HA-binding domain. HAPLNs contain two ...
      cd03519
      Location:250 → 337
      Link_domain_HAPLN_module_2; this link domain is found in the second link module of proteins similar to the vertebrate HAPLN (hyaluronan/HA and proteoglycan binding link) protein family which includes cartilage link protein. The link domain is a HA-binding domain. HAPLNs contain two ...
      cl11960
      Location:49 → 149
      Ig; Immunoglobulin domain

    2. XM_047427123.1 → XP_047283079.1  hyaluronan and proteoglycan link protein 2 isoform X2

      UniProtKB/TrEMBL
      B7Z1R1

    3. XM_011509853.3 → XP_011508155.1  hyaluronan and proteoglycan link protein 2 isoform X1

      See identical proteins and their annotated locations for XP_011508155.1

      UniProtKB/Swiss-Prot
      Q5T3J0, Q9GZV7
      UniProtKB/TrEMBL
      B7Z1Z4
      Conserved Domains (3) summary
      cd03518
      Location:148 → 241
      Link_domain_HAPLN_module_1; this link domain is found in the first link module of proteins similar to the vertebrate HAPLN (hyaluronan/HA and proteoglycan binding link) protein family which includes cartilage link protein. The link domain is a HA-binding domain. HAPLNs contain two ...
      cd03519
      Location:250 → 337
      Link_domain_HAPLN_module_2; this link domain is found in the second link module of proteins similar to the vertebrate HAPLN (hyaluronan/HA and proteoglycan binding link) protein family which includes cartilage link protein. The link domain is a HA-binding domain. HAPLNs contain two ...
      cl11960
      Location:49 → 149
      Ig; Immunoglobulin domain

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791758.1 Reference GRCh38.p14 PATCHES

      Range
      160063..184284
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332854.1 → XP_054188829.1  hyaluronan and proteoglycan link protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q5T3J0, Q9GZV7

    2. XM_054332856.1 → XP_054188831.1  hyaluronan and proteoglycan link protein 2 isoform X2

      UniProtKB/TrEMBL
      B7Z1R1

    3. XM_054332855.1 → XP_054188830.1  hyaluronan and proteoglycan link protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q5T3J0, Q9GZV7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      155737884..155762124
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338073.1 → XP_054194048.1  hyaluronan and proteoglycan link protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q5T3J0, Q9GZV7

    2. XM_054338075.1 → XP_054194050.1  hyaluronan and proteoglycan link protein 2 isoform X2

      UniProtKB/TrEMBL
      B7Z1R1

    3. XM_054338074.1 → XP_054194049.1  hyaluronan and proteoglycan link protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q5T3J0, Q9GZV7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9GZV7.1 GenPept UniProtKB/Swiss-Prot:Q9GZV7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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