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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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See HAPLN2 in Genome Data Viewer
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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