Aliases for HAPLN2 Gene

Aliases for HAPLN2 Gene

  • Hyaluronan And Proteoglycan Link Protein 2 2 3 4 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 ERK Signaling and Integrin Pathway. Gene Ontology (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 Summary 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

Additional gene information for HAPLN2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HAPLN2 Gene

Genomics for HAPLN2 Gene

GeneHancer (GH) Regulatory Elements for HAPLN2 Gene

Promoters and enhancers for HAPLN2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J156619 Promoter/Enhancer 1 EPDnew Ensembl 500.7 +0.6 581 0.8 CTCF CTBP1 SMC3 ZNF341 FOXA2 ZBTB17 REST IKZF3 RAD21 MAZ HAPLN2 NONHSAG003130.2 TTC24 LOC101928177
GH01J156456 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.2 -161.5 -161529 2.9 FOXK2 ZBTB40 ZNF217 EP300 CTCF NRF1 TCF12 POLR2G USF1 SP1 C1orf61 HSALNG0007590 lnc-C1orf61-2-003 GON4L KHDC4 RRNAD1 ENSG00000271267 ENSG00000237842 CCT3 ASH1L
GH01J156461 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.9 -155.0 -154999 7.2 CTCF PHB2 ZIC2 ZBTB11 TCF7 KLF4 HES1 MYC CTBP1 ZNF341 MIR9-1 NAXE GPATCH4 HAPLN2 MEF2D MRPL24 HDGF ENSG00000223356 RHBG HSALNG0007590
GH01J156551 Enhancer 0.9 Ensembl ENCODE 11.2 -65.6 -65600 5.6 FOS EP300 ESRRA CEBPB ZBTB17 USF1 SMARCC1 CEBPG SMARCA4 FOSL2 NAXE MEF2D HAPLN2 BCAN CCT3 C1orf61 MIR9-1 TSACC TTC24 SMG5
GH01J156616 Enhancer 1.3 FANTOM5 Ensembl ENCODE 6.8 -2.4 -2400 2 ZNF217 RBAK ZNF423 AFF1 TRIM28 TARDBP HES1 TOE1 MYC CTBP1 ENSG00000272971 TTC24 MSTO2P HAPLN2 PAQR6 BCAN C1orf61 LOC101928177
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HAPLN2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HAPLN2

Top Transcription factor binding sites by QIAGEN in the HAPLN2 gene promoter:
  • AML1a
  • AP-4
  • E2F
  • Evi-1
  • NRSF form 1
  • NRSF form 2
  • p53
  • YY1

Genomic Locations for HAPLN2 Gene

Genomic Locations for HAPLN2 Gene
chr1:156,618,801-156,625,725
(GRCh38/hg38)
Size:
6,925 bases
Orientation:
Plus strand
chr1:156,589,086-156,595,517
(GRCh37/hg19)
Size:
6,432 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

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for HAPLN2 Gene

Blocks:
  • Link domain
  • Immunoglobulin subtype
  • Immunoglobulin V-set
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HAPLN2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54346, highly similar to Hyaluronan and proteoglycan link protein 2 (B7Z1Z4_HUMAN)
  • Brain link protein 1 (HPLN2_HUMAN)
  • cDNA FLJ33393 fis, clone BRACE2006982, highly similar to Hyaluronan and proteoglycan link protein 2 (Q5T3J0_HUMAN)

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).

Phenotypes From GWAS Catalog for HAPLN2 Gene

Gene Ontology (GO) - Molecular Function for HAPLN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005540 hyaluronic acid binding IEA --
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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
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
plasma membrane 1
cytoskeleton 1
nucleus 1
mitochondrion 0
peroxisome 0
cytosol 0
lysosome 0

Gene Ontology (GO) - Cellular Components for HAPLN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0031012 extracellular matrix IEA,IBA 21873635
genes like me logo Genes that share ontologies with HAPLN2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HAPLN2 Gene

Pathways & Interactions for HAPLN2 Gene

PathCards logo

SuperPathways for HAPLN2 Gene

SuperPathway Contained pathways
1 Integrin Pathway
.67
.67
.56
.56
.50
.38
2 ERK Signaling
.61
.61
.58
.51
.49
3 Phospholipase-C Pathway
.56
.56
genes like me logo Genes that share pathways with HAPLN2: view

Pathways by source for HAPLN2 Gene

13 Qiagen pathways for HAPLN2 Gene
  • ERK Signaling
  • FAK1 Signaling
  • GnRH Signaling
  • ILK Signaling
  • Inhibition of Angiogenesis by TSP1

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 21873635
GO:0007155 cell adhesion IEA --
GO:0007417 central nervous system development IBA 21873635
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 730
genes like me logo Genes that share compounds with HAPLN2: view

Transcripts for HAPLN2 Gene

mRNA/cDNA for HAPLN2 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HAPLN2

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

Expression for HAPLN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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 and MOPED for HAPLN2 Gene



Protein tissue co-expression partners for HAPLN2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 30
  • 93.39 (n)
cow
(Bos Taurus)
Mammalia HAPLN2 31 30
  • 91.25 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HAPLN2 31 30
  • 90.36 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hapln2 30
  • 88.04 (n)
mouse
(Mus musculus)
Mammalia Hapln2 17 31 30
  • 87.45 (n)
oppossum
(Monodelphis domestica)
Mammalia HAPLN2 31
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HAPLN2 31
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves HAPLN2 31 30
  • 69.59 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hapln2 30
  • 62.86 (n)
zebrafish
(Danio rerio)
Actinopterygii hapln2 31 30
  • 59.6 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for HAPLN2: view image

Paralogs for HAPLN2 Gene

Paralogs for HAPLN2 Gene

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

  • HPLN2_HUMAN
  • Q5T3J0_HUMAN
  • Q5T3J1_HUMAN
genes like me logo Genes that share paralogs with HAPLN2: view

Variants for HAPLN2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HAPLN2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
718728 Benign: not provided 156,623,562(+) C/T SYNONYMOUS_VARIANT
782390 Benign: not provided 156,624,136(+) G/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for HAPLN2 Gene

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)

Additional Variant Information 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

Additional Disease Information for 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 (Biochemical and biophysical research communications 2000) 2 3 4 23 54
  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 medica Okayama 2002) 2 3 23 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  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 AP … Bowling RA (The Journal of biological chemistry 2003) 3 23 54

Products for HAPLN2 Gene

Sources for HAPLN2 Gene