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Aliases for HAPLN2 Gene

Aliases for HAPLN2 Gene

  • Hyaluronan And Proteoglycan Link Protein 2 2 3 5
  • Brain Link Protein 1 2 3 4
  • BRAL1 3 4
  • Brain Link Protein-1 3

External Ids for HAPLN2 Gene

Previous GeneCards Identifiers for HAPLN2 Gene

  • GC01P153806
  • GC01P153402
  • GC01P154855
  • GC01P156589
  • GC01P127946

Summaries for HAPLN2 Gene

GeneCards Summary for HAPLN2 Gene

HAPLN2 (Hyaluronan And Proteoglycan Link Protein 2) is a Protein Coding gene. Among its related pathways are ERK Signaling and Integrin Pathway. GO annotations related to this gene include extracellular matrix structural constituent and hyaluronic acid binding. An important paralog of this gene is HAPLN1.

UniProtKB/Swiss-Prot for HAPLN2 Gene

  • Mediates a firm binding of versican V2 to hyaluronic acid. May play a pivotal role in the formation of the hyaluronan-associated matrix in the central nervous system (CNS) which facilitates neuronal conduction and general structural stabilization. Binds to hyaluronic acid (By similarity).

Gene Wiki entry for HAPLN2 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HAPLN2 Gene

Genomics for HAPLN2 Gene

Regulatory Elements for HAPLN2 Gene

Genomic Location for HAPLN2 Gene

Chromosome:
1
Start:
156,618,801 bp from pter
End:
156,625,725 bp from pter
Size:
6,925 bases
Orientation:
Plus strand

Genomic View for HAPLN2 Gene

Genes around HAPLN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HAPLN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HAPLN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HAPLN2 Gene

Proteins for HAPLN2 Gene

  • Protein details for HAPLN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9GZV7-HPLN2_HUMAN
    Recommended name:
    Hyaluronan and proteoglycan link protein 2
    Protein Accession:
    Q9GZV7
    Secondary Accessions:
    • Q5T3J0

    Protein attributes for HAPLN2 Gene

    Size:
    340 amino acids
    Molecular mass:
    37775 Da
    Quaternary structure:
    No Data Available

neXtProt entry for HAPLN2 Gene

Proteomics data for HAPLN2 Gene at MOPED

Post-translational modifications for HAPLN2 Gene

No Post-translational modifications

Other Protein References for HAPLN2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for HAPLN2 Gene

Domains & Families for HAPLN2 Gene

Gene Families for HAPLN2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9GZV7

UniProtKB/Swiss-Prot:

HPLN2_HUMAN :
  • Contains 1 Ig-like V-type (immunoglobulin-like) domain.
  • Belongs to the HAPLN family.
Domain:
  • Contains 1 Ig-like V-type (immunoglobulin-like) domain.
  • Contains 2 Link domains.
Family:
  • Belongs to the HAPLN family.
genes like me logo Genes that share domains with HAPLN2: view

Function for HAPLN2 Gene

Molecular function for HAPLN2 Gene

UniProtKB/Swiss-Prot Function:
Mediates a firm binding of versican V2 to hyaluronic acid. May play a pivotal role in the formation of the hyaluronan-associated matrix in the central nervous system (CNS) which facilitates neuronal conduction and general structural stabilization. Binds to hyaluronic acid (By similarity).

Gene Ontology (GO) - Molecular Function for HAPLN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent IBA --
genes like me logo Genes that share ontologies with HAPLN2: view
genes like me logo Genes that share phenotypes with HAPLN2: view

Animal Models for HAPLN2 Gene

MGI Knock Outs for HAPLN2:

Animal Model Products

  • Taconic Biosciences Mouse Models for HAPLN2

miRNA for HAPLN2 Gene

miRTarBase miRNAs that target HAPLN2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HAPLN2 Gene

Localization for HAPLN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HAPLN2 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HAPLN2 Gene COMPARTMENTS Subcellular localization image for HAPLN2 gene
Compartment Confidence
extracellular 4
cytosol 1
lysosome 1
mitochondrion 1
peroxisome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for HAPLN2 Gene

Pathways & Interactions for HAPLN2 Gene

genes like me logo Genes that share pathways with HAPLN2: view

Interacting Proteins for HAPLN2 Gene

Gene Ontology (GO) - Biological Process for HAPLN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IBA --
GO:0007155 cell adhesion IEA,IBA --
GO:0007417 central nervous system development IBA --
genes like me logo Genes that share ontologies with HAPLN2: view

No data available for SIGNOR curated interactions for HAPLN2 Gene

Drugs & Compounds for HAPLN2 Gene

(1) Drugs for HAPLN2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hyaluronan Approved Pharma 362
genes like me logo Genes that share compounds with HAPLN2: view

Transcripts for HAPLN2 Gene

Unigene Clusters for HAPLN2 Gene

Hyaluronan and proteoglycan link protein 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HAPLN2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g · 1h · 1i ^ 2a · 2b · 2c · 2d · 2e · 2f · 2g · 2h ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c · 4d ^ 5a ·
SP1: - - - - -
SP2: - - - - -
SP3: - - -
SP4: - - - - - - - - - -
SP5: - - - - - - - - -
SP6: - - - - - - -
SP7: - - - - - -
SP8: - - -
SP9: - - - - - - - -
SP10: - -
SP11:
SP12: - - - - -
SP13: -
SP14: - - - - - - -
SP15: - - - - - -

ExUns: 5b · 5c · 5d · 5e · 5f ^ 6a · 6b ^ 7 ^ 8
SP1:
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for HAPLN2 Gene

GeneLoc Exon Structure for
HAPLN2
ECgene alternative splicing isoforms for
HAPLN2

Expression for HAPLN2 Gene

mRNA expression in normal human tissues for HAPLN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HAPLN2 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x18.9) and Brain - Substantia nigra (x8.8).

Protein differential expression in normal tissues from HIPED for HAPLN2 Gene

This gene is overexpressed in Spinal cord (43.6) and Frontal cortex (20.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HAPLN2 Gene



SOURCE GeneReport for Unigene cluster for HAPLN2 Gene Hs.410719

mRNA Expression by UniProt/SwissProt for HAPLN2 Gene

Q9GZV7-HPLN2_HUMAN
Tissue specificity: Expressed only in adult brain.
genes like me logo Genes that share expression patterns with HAPLN2: view

Protein tissue co-expression partners for HAPLN2 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for HAPLN2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HAPLN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HAPLN2 35
  • 93.39 (n)
  • 90.85 (a)
cow
(Bos Taurus)
Mammalia HAPLN2 36
  • 92 (a)
OneToOne
HAPLN2 35
  • 91.25 (n)
  • 92.33 (a)
dog
(Canis familiaris)
Mammalia HAPLN2 35
  • 90.36 (n)
  • 93.2 (a)
HAPLN2 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hapln2 36
  • 91 (a)
OneToOne
Hapln2 16
Hapln2 35
  • 87.45 (n)
  • 91.76 (a)
oppossum
(Monodelphis domestica)
Mammalia HAPLN2 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HAPLN2 36
  • 52 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hapln2 35
  • 88.04 (n)
  • 91.18 (a)
chicken
(Gallus gallus)
Aves HAPLN2 35
  • 69.59 (n)
  • 67.4 (a)
HAPLN2 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hapln2 35
  • 62.86 (n)
  • 64.2 (a)
zebrafish
(Danio rerio)
Actinopterygii hapln2 36
  • 53 (a)
OneToOne
hapln2 35
  • 59.6 (n)
  • 58.61 (a)
Species with no ortholog for HAPLN2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HAPLN2 Gene

ENSEMBL:
Gene Tree for HAPLN2 (if available)
TreeFam:
Gene Tree for HAPLN2 (if available)

Paralogs for HAPLN2 Gene

Paralogs for HAPLN2 Gene

(8) SIMAP similar genes for HAPLN2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with HAPLN2: view

Variants for HAPLN2 Gene

Sequence variations from dbSNP and Humsavar for HAPLN2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1135645 -- 156,625,595(+) ATGCA(A/G)AGGTG utr-variant-3-prime
rs4661206 -- 156,626,225(+) TTGCG(G/T)AAGGC downstream-variant-500B
rs12045494 -- 156,625,836(+) AGCAC(C/T)TAAGA downstream-variant-500B
rs12733091 -- 156,624,922(+) GCCCG(C/T)CCAGG intron-variant
rs34495789 -- 156,625,540(+) ACCCC(-/CG)GGCTG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for HAPLN2 Gene

Variant ID Type Subtype PubMed ID
nsv523181 CNV Loss 19592680
nsv872473 CNV Loss 21882294
nsv824853 CNV Gain 20364138
nsv521401 CNV Loss 19592680
nsv824864 CNV Gain 20364138

Variation tolerance for HAPLN2 Gene

Residual Variation Intolerance Score: 47.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.24; 40.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HAPLN2 Gene

HapMap Linkage Disequilibrium report
HAPLN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HAPLN2 Gene

Disorders for HAPLN2 Gene

Relevant External Links for HAPLN2

Human Genome Epidemiology (HuGE) Navigator
HAPLN2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HAPLN2

No disorders were found for HAPLN2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HAPLN2 Gene

Publications for HAPLN2 Gene

  1. The brain link protein-1 (BRAL1): cDNA cloning, genomic structure, and characterization as a novel link protein expressed in adult brain. (PMID: 11027579) Hirakawa S. … Ninomiya Y. (Biochem. Biophys. Res. Commun. 2000) 2 3 4 23 67
  2. Human BRAL1 and BCAN genes that belong to the link-module superfamily are tandemly arranged on chromosome 1q21-23. (PMID: 11873941) Nomoto H. … Ninomiya Y. (Acta Med. Okayama 2002) 2 3 23
  3. A hyaluronan binding link protein gene family whose members are physically linked adjacent to chondroitin sulfate proteoglycan core protein genes: the missing links. (PMID: 12663660) Spicer A.P. … Bowling R.A. Jr. (J. Biol. Chem. 2003) 3 23
  4. 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. (PMID: 20950796) KAohler A.K. … Andreassen O.A. (Biol. Psychiatry 2011) 3
  5. A whole genome screen for HIV restriction factors. (PMID: 22082156) Liu L. … McKnight A. (Retrovirology 2011) 3

Products for HAPLN2 Gene

Sources for HAPLN2 Gene

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