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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 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 Phospholipase-C Pathway and ERK Signaling. GO annotations related to this gene include extracellular matrix structural constituent and hyaluronic acid binding. An important paralog of this gene is HAPLN3.

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 , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HAPLN2 Gene

Genomics for HAPLN2 Gene

Regulatory Elements for HAPLN2 Gene

Enhancers for HAPLN2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G156456 1.8 FANTOM5 ENCODE dbSUPER 10.9 -161.4 -161425 2.7 MLX CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 ZNF263 KIAA0907 RRNAD1 ENSG00000271267 LOC246784 ARHGEF2 C1orf61 MIR9-1 SSR2 NAXE GPATCH4
GH01G156460 1.4 Ensembl ENCODE dbSUPER 10.9 -157.0 -157039 1.7 PKNOX1 ATF1 CBX3 TBL1XR1 ZNF133 CHAMP1 TCF12 ZNF766 EGR1 GATA2 C1orf61 MIR9-1 NAXE GPATCH4 HAPLN2 MRPL24 HDGF GC01M156440 GC01M156484 ENSG00000206651
GH01G156461 1.2 ENCODE dbSUPER 10.9 -158.0 -158044 0.0 PKNOX1 ATF1 ARNT TCF12 ZNF766 ELK1 GATA2 JUNB NCOA1 SMARCA4 C1orf61 MIR9-1 NAXE GPATCH4 HAPLN2 MRPL24 HDGF GC01M156440 GC01M156484 ENSG00000206651
GH01G156551 1.1 Ensembl ENCODE 11.2 -66.0 -66049 3.3 TBP HDAC1 CBX3 RAD21 RFX5 TCF12 GATA2 RCOR1 FOS SMARCC1 NAXE MEF2D HAPLN2 BCAN CCT3 C1orf61 MIR9-1 TSACC SMG5 IQGAP3
GH01G156450 1 ENCODE 11.2 -167.0 -166951 1.7 ATF1 CREB3L1 SIN3A YY1 GLIS2 ZNF548 KDM4B ZNF263 SP3 YY2 KIAA0907 RRNAD1 ENSG00000271267 BGLAP LOC246784 MIR9-1 ASH1L-AS1 HAPLN2 CCT3 RHBG
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HAPLN2 on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for HAPLN2 Gene

No Post-translational modifications

Other Protein References for HAPLN2 Gene

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 :
  • Belongs to the HAPLN family.
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 --
GO:0005540 hyaluronic acid binding IEA,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

CRISPR Products

miRNA for HAPLN2 Gene

miRTarBase miRNAs that target HAPLN2

Inhibitory RNA Products

Clone Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HAPLN2 gene
Compartment Confidence
extracellular 4
mitochondrion 1
peroxisome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for HAPLN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005578 proteinaceous extracellular matrix IBA,IEA --
genes like me logo Genes that share ontologies with HAPLN2: view

Pathways & Interactions for HAPLN2 Gene

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

Pathways by source for HAPLN2 Gene

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 --
GO:0007417 central nervous system development IBA --
GO:0008065 establishment of blood-nerve barrier IEA --
GO:0085029 extracellular matrix assembly IEA --
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
Hyaluronic acid Approved, Vet_approved Pharma 469
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for HAPLN2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HAPLN2 Gene:

HAPLN2

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.

Evidence on tissue expression from TISSUES for HAPLN2 Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with HAPLN2: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for HAPLN2 Gene

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 34
  • 93.39 (n)
cow
(Bos Taurus)
Mammalia HAPLN2 34 35
  • 91.25 (n)
dog
(Canis familiaris)
Mammalia HAPLN2 34 35
  • 90.36 (n)
rat
(Rattus norvegicus)
Mammalia Hapln2 34
  • 88.04 (n)
mouse
(Mus musculus)
Mammalia Hapln2 34 16 35
  • 87.45 (n)
oppossum
(Monodelphis domestica)
Mammalia HAPLN2 35
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HAPLN2 35
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves HAPLN2 34 35
  • 69.59 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia hapln2 34
  • 62.86 (n)
zebrafish
(Danio rerio)
Actinopterygii hapln2 34 35
  • 59.6 (n)
Species where no ortholog for HAPLN2 was found in the sources mined by GeneCards:
  • 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
rs1000010119 -- 156,619,469(+) GAAGT(A/C)CTGGA intron-variant, utr-variant-5-prime
rs1000113437 -- 156,611,642(+) AAAAA(A/C)CAGGT intron-variant
rs1000243219 -- 156,604,581(+) CGTGC(C/G)CGGCC intron-variant
rs1000300307 -- 156,602,292(+) TTGGT(A/G)CTGGG intron-variant, upstream-variant-2KB
rs1000333637 -- 156,619,104(+) TTAGA(A/G)CCCTG intron-variant, upstream-variant-2KB, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
nsv521401 CNV loss 19592680
nsv523181 CNV loss 19592680
nsv824853 CNV gain 20364138
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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 22 64
  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 22 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. 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 22 64

Products for HAPLN2 Gene

Sources for HAPLN2 Gene

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